Abstract
The progress of molecular genetics helps clinicians to prove or exclude a suspected diagnosis for a vast and yet increasing number of genodermatoses. This leads to precise genetic counselling, prenatal diagnosis and preimplantation genetic haplotyping for many inherited skin conditions. It is also helpful in such occasions as phenocopy, late onset and incomplete penetrance, uniparental disomy, mitochondrial inheritance and pigmentary mosaicism. Molecular methods of two genodermatoses are explained in detail, i.e. genodermatoses with skin fragility and neurofibromatosis type 1.
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Appendix: Genodermatoses with Currently Known Gene Defect
Appendix: Genodermatoses with Currently Known Gene Defect
-
1.
Genodermatoses with keratin abnormalities and keratinisation disorders
Diseases
Gene
Mode of inheritance
MIM
Adermatoglyphia
SMARCAD1
AD
136000
Arthrogryposis, renal dysfunction and cholestasis 1 (54)
VPS33B
AR
208085
Benign chronic pemphigus (55)
ATP2C1
AD
169600
KRAS, BRAF, MEK1, MEK2
AD
115150
Cardiomyopathy, dilated, with woolly hair and keratoderma (58)
DSP
AR
605676
Cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma syndrome (59)
SNAP29
AR
609528
Chanarin–Dorfman syndrome (60)
CGI58
AR
275630
Chondrodysplasia punctata 2, X-linked dominant (61)
EBP
XD
302960
Congenital disorder of glycosylation, type Im (62)
TMEM15
AR
610768
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (63)
NSDHL
XD
308050
Darier–White disease (64)
ATP2A2
AD
124200
Deafness, congenital, with keratopachydermia and constriction of fingers and toes (65)
GJB2
AD
124500
Deafness, non-syndromic sensorineural, mitochondrial (17)
MTTS1
mt
500008
Dermatopathia pigmentosa reticularis (66)
KRT14
AD
125595
Dowling–Degos disease (67)
KRT5
AD
179850
Epidermolytic hyperkeratosis (68)
KRT1
AD
113800
KRT10
AD>>AR
GJB3, GJB4
AD
133200
Haim–Munk syndrome (71)
CTSC
AR
245010
Ichthyosis hystrix, Curth–Macklin type (10)
KRT1
AD
146590
Ichthyosis with confetti (72)
KRT10, LOH in chr17q
AD
609165
Ichthyosis, cyclic, with epidermolytic hyperkeratosis (73)
KRT1, KRT10
AD
607602
Ichthyosis, congenital, autosomal recessive, NIPAL4-related (74)
ARCI
AR
612281
Ichthyosis congenital, Harlequin foetus type (75)
ABCA12
AR
242500
Ichthyosis, bullous type (76)
KRT2
AD
146800
Ichthyosis vulgaris (77)
FLG
AD
146700
Ichthyosis prematurity syndrome (78)
FATP4
AR
608649
Ichthyosis, hystrix-like, with deafness (79)
GJB2
AD
602540
Ichthyosis, lamellar, 1 (80)
TGM1
AR
242300
Ichthyosis, lamellar, 2 (81)
ABCA12
AR
601277
Ichthyosis, lamellar, 3 (82)
CYP4F22
AR
604777
Ichthyosis, leucocyte vacuoles, alopecia and sclerosing cholangitis (83)
CLDN1
AR
607626
Ichthyosiform erythroderma, congenital, non-bullous 1 (84, 85)
TGM1, ALOXE3, ALOX12B
AR
242100
Ichthyosis with hypotrichosis, autosomal recessive (86)
ST14
AR
610765
Keratitis–Ichthyosis–Deafness syndrome, autosomal dominant (87)
GJB2
AD
148210
Keratosis follicularis spinulosa decalvans, X-linked (88)
MBTPS2
XR
308800
Keratosis palmoplantaris striata 1 (89)
DSG1
AD
148700
Keratosis palmoplantaris striata 2 (90)
DSP
AD
612908
Keratosis palmoplantaris striata 3 (91)
KRT1
AD
607654
Knuckle pads, leuconychia and sensorineural deafness (92)
GJB2
AD
149200
Mal de Meleda (93)
SLURP1
AR
248300
SUMF1
AR
272200
Naegeli syndrome (66)
KRT14
AD
161000
Noonan syndrome 1 (96)
PTPN11
AD
163950
Noonan syndrome 3 (97)
KRAS
AD
609942
SOS1
AD
610733
Noonan syndrome 5 (100)
RAF1
AD
611553
Noonan syndrome 6 (101)
NRAS
AD
613224
Noonan syndrome 7 (102)
BRAF
AD
613706
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia (103)
CBL
AD
613563
Noonan syndrome-like disorder with loose anagen hair (104)
SHOC2
AD
607721
Naxos disease (105)
JUP
AR
601214
Netherton syndrome (106)
SPINK5
AR
256500
Oculo-dento-digital dysplasia (107)
GJA1
AD
164200
KRT6A, KRT16
AD
167200
KRT6B, KRT17
AD
167210
KRT1, KRT9
AD
144200
Palmoplantar keratoderma, non-epidermolytic (114)
KRT1
AD
600962
Palmoplantar keratoderma, non-epidermolytic, focal (115)
KRT16
AD
613000
Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal (116)
RSPO1
AR
610644
Papillon–Lefèvre syndrome (117)
CTSC
AR
245000
Porokeratosis, disseminated superficial actinic, 1 (118)
SART3
AD
175900
Peeling skin syndrome (119)
CDSN
AR
270300
Peeling skin syndrome, acral type (120)
TGM5
AR
609796
Refsum disease, adult, 1 (121)
PHYH
AR
266500
Pseudofolliculitis barbae
KRT75
AD
612318
Refsum disease, adult, 2 (122)
PEX7
AR
266500
PEX7
AR
215100
Seborrhoea-like dermatitis with psoriasiform elements (126)
ZNF750
AD
610227
Steatocystoma multiplex (127)
KRT17
AD
184500
Tyrosinaemia, type II (128)
TAT
AR
276600
Vohwinkel syndrome, variant form (129)
LCR
AD
604117
White sponge naevus (130)
KRT4, KRT13
AD
193900
-
2.
Genodermatoses with skin fragility
Diseases
Gene
Mode of inheritance
MIM
Ectodermal dysplasia, skin fragility syndrome (131)
PKP1
AR
604536
Epidermolysis bullosa simplex, Dowling–Meara type (132, 133)
KRT5, KRT14
AD
131760
KRT5, KRT14
AD
131900
KRT5, KRT14
AD
131800
Epidermolysis bullosa simplex with mottled pigmentation (138)
KRT5
AD
131960
Epidermolysis bullosa simplex with migratory circinate erythema (139)
KRT5
AD
609352
Epidermolysis bullosa simplex, autosomal recessive (140)
KRT5, KRT14
AR
601001
Epidermolysis bullosa simplex, Ogna type (141)
PLEC1
AD
131950
Epidermolysis bullosa simplex with muscular dystrophy (142)
PLEC1
AR
226670
Epidermolysis bullosa simplex with pyloric atresia (143)
PLEC1
AR
612138
LAMA3, LAMB3, LAMC2
AR
226700
Epidermolysis bullosa, junctional, non-Herlitz type (147–150)
COL17A1, LAMA3, LAMB3, LAMC2, ITGB4
AR
226650
Epidermolysis bullosa junctionalis with pyloric atresia (151, 152)
ITGA6, ITGB4
AR
226730
Epidermolysis bullosa dystrophica, autosomal dominant (153)
COL7A1
AD
131750
Epidermolysis bullosa dystrophica, pretibial (154)
COL7A1
AD
131850
Epidermolysis bullosa dystrophica, pruriginosa (11)
COL7A1
AD
604129
Epidermolysis bullosa simplex superficialis (155)
COL7A1
AD
607600
Epidermolysis bullosa with congenital localised absence of skin and deformity of nails (156)
COL7A1
AD
132000
Epidermolysis bullosa dystrophica, autosomal recessive (157)
COL7A1
AR
226600
Epidermolysis bullosa, lethal acantholytic (8)
DSP
AR
609638
Hypotrichosis and recurrent skin vesicles (158)
DSC3
AR
613102
Kindler syndrome (159)
FERMT1
AR
173650
Laryngo-oculo-cutaneous syndrome (160)
LAMA3
AR
245660
Nephropathy with pretibial epidermolysis bullosa and deafness (161)
CD151
AR
609057
Skin fragility-woolly hair syndrome (162)
DSP
AR
607655
Transient bullous dermolysis of the newborn (163)
COL7A1
AD>>AR
131705
Epidermolysis bullosa, lethal congenital
JUP
AR
-
3.
Connective tissue genodermatoses
Diseases
Gene
Mode of inheritance
MIM
APOA1, FGA, LYZ
AD
105200
Amyloidosis, Finnish type (166)
GSN
AD
105120
Amyloidosis, hereditary, transthyretin-related (167)
TTR
AD
105210
Amyloidosis, primary cutaneous (168)
OSMR
AD
105250
Arterial tortuosity syndrome (169)
GLUT10
AR
208050
Buschke–Ollendorff syndrome (170)
LEMD3
AD
166700
Costello syndrome (171)
HRAS
AD
218040
ELN, FBLN5
AD
123700
FBLN4, FBLN5
AR
219100
Cutis laxa, autosomal recessive, type IIA (176)
ATP6V0A2
AR
219200
Cutis laxa, autosomal recessive, type IIB (177)
PYCR1
AR
612940
COL1A1, COL5A1, COL5A2
AD
130000
COL5A1, COL5A2
AD
130010
TNXB, COL3A1
AD
130020
Ehlers–Danlos syndrome, type IV, autosomal dominant (185)
COL3A1
AD
130050
Ehlers–Danlos syndrome, type VI (186)
PLOD1
AR
225400
Ehlers–Danlos syndrome, type VII, autosomal dominant (187, 188)
COL1A1, COL1A2
AD
130060
Ehlers–Danlos syndrome, type VII, autosomal recessive (189)
ADAMTS2
AR
225410
Ehlers–Danlos syndrome, autosomal recessive, cardiac valvular form (190)
COL1A2
AR
225320
Ehlers–Danlos syndrome, musculocontractural type (191)
CHST14
AR
601776
B4GALT7
AR
130070
Ehlers–Danlos-like syndrome due to tenascin-X deficiency (194, 195)
TNXB
AR
606408
CMG2
AR
228600
Focal dermal hypoplasia (198)
PORCN
XD
305600
Heterotopia, periventricular, Ehlers–Danlos variant (199)
FLNA
XD
300537
CMG2
AR
236490
Lipoid proteinosis of Urbach and Wiethe (200)
ECM1
AR
247100
Loeys–Dietz syndrome, type 1A (201)
TGFBR1
AD
609192
Loeys–Dietz syndrome, type 1B (201)
TGFBR2
AD
610168
Loeys–Dietz syndrome, type 2A (202)
TGFBR1
AD
608967
Loeys–Dietz syndrome, type 2B (203)
TGFBR2
AD
610380
Marfan syndrome (204)
FBN1
AD
154700
Microphthalmia, syndromic 7 (205)
HCCS
XD
309801
CHRNG, CHRNA1, CHRND
AR
253290
CHRNG
AD
265000
Neonatal cutis laxa with marfanoid phenotype (209)
LAMB1
AD
150240
Nevo syndrome (210)
PLOD1
AR
601451
Occipital horn syndrome (211)
ATP7A
XR
304150
Popliteal pterygium syndrome (212)
IRF6
AR
119500
ABCC6
AR
264800
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (216)
GGCX
AR
610842
Restrictive dermopathy, lethal (217)
LMNA
AD
275210
ZMPSTE24
AR
Shprintzen–Goldberg craniostosis syndrome (218)
FBN1
AD
182212
Spondylocheirodysplasia, Ehlers–Danlos-like (219)
SLC39A13
AR
612350
Stiff skin syndrome (220)
FBN1
AD
184900
Torg–Winchester syndrome (221)
MMP2
AR
259600
Ullrich congenital muscular dystrophy (222)
COL6A1, COL6A2, COL6A3
AD, AR
254090
van der Woude syndrome (212)
IRF6
AD
119300
Weill–Marchesani syndrome, autosomal dominant (223)
FBN1
AD
608328
Weill–Marchesani syndrome, autosomal recessive (224)
ADAMTS10
AR
277600
Weill–Marchesani-like syndrome (225)
FBN1, ADAMTS10
AR
613195
Wrinkly skin syndrome (176)
ATP6V0A2
AR
278250
-
4.
Ectodermal dysplasias
Diseases
Gene
Mode of inheritance
MIM
ADULT syndrome (226)
TP63
AD
103285
Ankyloblepharon-ectodermal defects-cleft lip/palate (227)
TP63
AD
106260
Cleft lip/palate-ectodermal dysplasia syndrome (228)
PVRL1
AR
225060
EEM syndrome (229)
CDH3
AR
225280
Ectodermal dysplasia, hidrotic, autosomal dominant (230)
GJB6
AD
129500
Ectodermal dysplasia, hypohidrotic, autosomal dominant (231, 232)
EDAR, EDARADD
AD
129490
Ectodermal dysplasia, hypohidrotic, autosomal recessive (231, 233)
EDAR, EDARADD
AR
224900
Ectodermal dysplasia, hypohidrotic, X-linked (234)
EDA
XR
305100
Ectodermal dysplasia, hypohidrotic, with immune deficiency (235)
IKBKG
XR
300291
Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant (236)
NFKBIA
AD
612132
Ectodermal dysplasia, “pure” hair-nail type (237)
KRTHB5
AR
602032
Ectrodactyly, ectodermal dysplasias, and cleft lip/palate syndrome 3 (238)
TP63
AD
604292
Ellis–van Creveld syndrome (239)
EVC, EVC2
AR
225500
Kabuki syndrome (240)
MLL2
Sporadic>>AD
147920
Limb-mammary syndrome (241)
TP63
AD
603543
Lymphoedema-distichiasis syndrome (with yellow nails)(242)
FOXC2
AD
153400
Odonto-onycho-dermal dysplasia (243)
WNT10A
AR
257980
Orofaciodigital syndrome I (244)
CXORF5
XD
311200
Rapp–Hodgkin syndrome (245)
TP63
AD
129400
Split-hand/foot malformation 4 (246)
TP63
AD
605289
Split-hand/foot malformation 6 (247)
WNT10B
AR
225300
Tricho-dento-osseous syndrome (248)
DLX3
AD
190320
Tricho-rhino-phalangeal syndrome, type I (249)
TRPS1
AD
190350
TRPS1 & EXT1
AD, contiguous gene syndrome
150230
Tricho-rhino-phalangeal syndrome, type III (252)
TRPS1
AD
190351
Witkop syndrome (253)
MSX1
AD
189500
-
5.
Hereditary disorders of hair and nails
Diseases
Gene
Mode of inheritance
MIM
Arginosuccinic aciduria (254)
ASL
AR
207900
Alopecia universalis congenital (255)
HR
AR
203655
Anonychia congenita (256)
RSPO4
AR
206800
Atrichia with popular lesions (257)
HR
AR
209500
Björnstad syndrome (258)
BCS1L
AR
262000
Cartilage-hair hypoplasia (259)
RMRP
AR
250250
Giant axonal neuropathy 1 (260)
GAN
AR
256850
Hypotrichosis, congenital, with juvenile macular dystrophy (261)
CDH3
AR
601553
Hypotrichosis, localised, autosomal recessive 1 (262)
DSG1
AR
607903
Hypotrichosis, localised, autosomal recessive 2 (263)
LIPH
AR
604379
Hypotrichosis, localised, autosomal recessive 3 (264)
P2RY5
AR
611452
Hypotrichosis-lymphoedema-telangiectasia syndrome (265)
SOX18
AD, AR
607823
Hypotrichosis simplex of scalp (266)
CDSN
AD
146520
Hypotrichosis simplex, hereditary (267)
APCDD1
AD, AR
605389
Laron syndrome (268)
GHR
AR
262500
MTND2, MTND3, MTND5, MTND6
mt
256000
NDUFV1, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFA2, C8ORF38, C20ORF7, NDUFAF2, FOXRED1
AR
Leigh syndrome, with complex II deficiency (284)
SDHA
AR
Leigh syndrome, with complex III deficiency (285)
BCS1L
AR
Leigh syndrome, with complex IV deficiency (286)
MTCO3
mt
COX10, COX15, SCO2, SURF1, TACO1
AR
Leigh syndrome, with complex V deficiency (287)
MTATP6
mt
Leigh syndrome, with mutations in genes encoding mitochondrial tRNA proteins (288–292)
MTTV, MTTK, MTTW, MTTL1
mt
Leigh syndrome, with mutations in components of pyruvate dehydrogenase complex (293)
DLD, PDHA1
AR
Leigh syndrome, French-Canadian type (294)
LRPPRC
AR
220111
Leigh syndrome, X-linked (295)
PDHA1
XR
308930
Leigh syndrome with growth retardation, co-enzyme Q10 deficiency (296–301)
COQ2, APTX, PDSS1, PDSS2, CABC1, COQ9
AR
607426
Marie Unna hereditary hypotrichosis 1 (302)
HR
AD
146550
ATP7A
XR
309400
KRTHB1, KRTHB3, KRTHB6
AD
158000
Nail-patella syndrome (309)
LMX1B
AD
161200
T-cell immunodeficiency, congenital alopecia and nail dystrophy (310)
FOXN1
AR
601705
Toenail dystrophy, isolated (9)
COL7A1
AD
607523
Trichothiodystrophy, non-photosensitive 1 (311)
C7ORF11
AR
234050
ERCC2, ERCC3, GTF2H5
AR
601675
Vitamin D-dependent rickets, type 2A (315)
VDR
AR
277440
Woolly hair, autosomal dominant (316)
KRT74
AD
194300
Woolly hair, autosomal recessive 1 (317)
P2RY5
AR
278150
-
6.
Genodermatoses with abnormal pigmentation
Diseases
Gene
Mode of inheritance
MIM
Albinism, ocular, with sensorineural deafness (318)
MITF and TYR (digenic)
AD
103470
Albinism, oculocutaneous, type IA (319)
TYR
AR
203100
Albinism, oculocutaneous, type IB (320)
TYR
AR
606952
Albinism, oculocutaneous, type II (321)
OCA2
AR
203200
Albinism, oculocutaneous, type III (322)
TYRP1
AR
203290
Albinism, oculocutaneous, type IV (323)
SLC45A2
AR
606574
Chédiak–Higashi syndrome (324)
LYST
AR
214500
Dyschromatosis symmetrica hereditaria 1 (325)
ADAR
AD
127400
Griscelli syndrome, type 1 (326)
MYO5A
AR
214450
Griscelli syndrome, type 2 (327)
RAB27A
AR
607624
Griscelli syndrome, type 3 (328)
MLPH, MYO5A
AR
609227
Hermansky–Pudlak syndrome (329)
HPS1
AR
203300
Hermansky–Pudlak syndrome, type 2 (330)
AP3B1
AR
608233
Hermansky–Pudlak syndrome, type 3 (331)
HPS3
AR
614072
Hermansky–Pudlak syndrome, type 4 (332)
HPS4
AR
606682
Hermansky–Pudlak syndrome, type 5 (333)
HPS5
AR
614074
Hermansky–Pudlak syndrome, type 6 (333)
HPS6
AR
614075
Hermansky–Pudlak syndrome, type 7 (334)
DTNBP1
AR
614076
Hermansky–Pudlak syndrome, type 8 (335)
BLOC1S3
AR
614077
Incontinentia pigmenti (336)
IKBKG
XD
308300
Legius syndrome (337)
SPRED1
AD
611431
LEOPARD syndrome 1 (338)
PTPN11
AD
151100
LEOPARD syndrome 2 (100)
RAF1
AD
611554
LEOPARD syndrome 3 (102)
BRAF
AD
613707
McCune–Albright syndrome (339)
GNAS1
AD lethal
174800
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome and Hirschsprung disease (340)
SOX10
AD
609136
Piebald trait (341)
KIT, SNAI2
AD
172800
Poikiloderma with neutropenia (342)
C16ORF57
AR
604173
Tietz syndrome (343)
MITF
AD
103500
Waardenburg syndrome, type 1 (344)
PAX3
AD
193500
Waardenburg syndrome, type 2A (345)
MITF
AD
193510
Waardenburg syndrome, type 2D (346)
SNAI2
AR
608890
Waardenburg syndrome, type 2E (347)
SOX10
AD
611584
Waardenburg syndrome, type 3 (348)
PAX3
AD
148820
Waardenburg syndrome, type 4A (349)
EDNRB
AD, AR
277580
Waardenburg syndrome, type 4B (350)
EDN3
AD, AR
613265
Waardenburg syndrome, type 4C (351)
SOX10
AD
613266
-
7.
Metabolic genodermatoses
Diseases
Gene
Mode of inheritance
MIM
Acrodermatitis enteropathica, zinc-deficiency type (352)
SLC39A4
AR
201100
Alkaptonuria (353)
HGD
AR
203500
APOA1, FGA, LYZ
AD
105200
C1NH
AD
106100
Angiooedema, hereditary, type III (356)
F12
AD (female only)
610618
Apolipoprotein C-II deficiency (357)
APOC2
AR
207750
Biotinidase deficiency (358)
BTD
AR
253260
Cerebrotendinous xanthomatosis (359)
CYP27A1
AR
213700
Coproporphyria, hereditary (360)
CPOX
AD
121300
Fabry disease (361)
GLA
XR
301500
Farber lipogranulomatosis (362)
ASAH
AR
228000
FUCA1
AR
230000
Fumarase deficiency (365)
FH
AR
606812
Gaucher disease type I, II and III (366)
GBA
AR
230800, 230900, 231000
Hartnup disorder (367)
SLC6A19
AR
234500
HFE
AR
235200
Haemochromatosis type 2A (370)
HJV
AR
602390
Haemochromatosis type 2B (371)
HAMP
AR
613313
Haemochromatosis type 3 (372)
TFR2
AR
604250
Haemochromatosis type 4 (373)
SLC40A1
AD
606069
Holocarboxydase synthetase deficiency (374)
HLCS
AR
253270
Homocystinuria due to cystathionine beta-synthase deficiency (375)
CBS
AR
236200
Hypercholesterolaemia, autosomal dominant (376)
LDLR
AD
143890
Hypercholesterolaemia, autosomal dominant, type B (377)
APOB
AD
144010
Hypercholesterolaemia, autosomal dominant, 3 (378)
PCSK9
AD
603776
LPL
AR
238600
Hyperlipoproteinaemia, type III (381)
APOE
AD
107741
Hyperphenylalaninemia, BH4-deficient (382)
QDPR
AR
261630
Hyperphenylalaninemia, BH4-deficient, A (383)
PTS
AR
261640
APOA5, LIPI, RP1
AD
145750
ABCA1, APOA1
604091
Niemann–Pick disease, type A (389)
SMPD1
AR
257200
Phenylketonuria (390)
PAH
AR
261600
Porphyria, congenital erythropoietic (391)
UROS
AR
263700
Porphyria cutanea tarda (392)
UROD
AD
176100
Porphyria, hepatoerythropoietic (393)
AR
Porphyria, variegate (394)
PPOX
AD
176200
Prolidase deficiency (395)
PEPD
AR
170100
Protoporphyria, erythropoietic (396)
FECH
AD
177000
ABCG5, ABCG8
AR
210250
Tangier disease (387)
ABCA1
AR
205400
Wilson disease (399)
ATP7B
AR
277900
-
8.
Autoinflammatory genodermatoses
Diseases
Gene
Mode of inheritance
MIM
Blau syndrome (400)
NOD2
AD
186580
CINCA syndrome (401)
CIAS1
AD
607115
Cold urticaria, immunodeficiency and autoimmunity related to PCLG2 deletions
PMID: 22236196
PCLG2
600220
Cyclic haematopoiesis (402)
ELA2
AD
162800
Familial cold autoinflammatory syndrome 1 (403)
CIAS1
AD
120100
Familial cold autoinflammatory syndrome 2 (157)
NLRP12
AD
611762
Familial Mediterranean fever (404)
MEFV
AR
249100
Familial Mediterranean fever, autosomal dominant (405)
MEFV
AD
134610
Hyper-IgD syndrome (406)
MVK
AR
260920
Majeed syndrome (407)
LPIN2
AR
609628
Muckle–Wells syndrome (403)
CIAS1
AD
191900
Periodic fever, familial, autosomal dominant (408)
TNFRSF1A
AD
142680
Pyogenic sterile arthritis, pyoderma gangrenosum and acne (409)
PSTPIP1
AD
604416
-
9.
Genodermatoses with lipodystrophy
Diseases
Gene
Mode of inheritance
MIM
Donohue syndrome (410)
INSR
AR
246200
Lipodystrophy, congenital generalised, type 1 (411)
AGPAT2
AR
608594
Lipodystrophy, congenital generalised, type 2 (412)
BSCL2
AR
269700
Lipodystrophy, familial partial, type 2 (413)
LMNA
AD
151660
Lipodystrophy, familial partial, type 3 (414)
PPARG
AD
604367
Lipodystrophy, partial, acquired (415)
LMNB2
AD
608709
-
10.
Genodermatoses with premature ageing
Diseases
Gene
Mode of inheritance
MIM
Cockayne syndrome, type A (416)
ERCC8
AR
216400
Cockayne syndrome, type B (417)
ERCC6
AR
133540
Ehlers–Danlos syndrome, progeroid form (193)
B4GALT7
AR
130070
Hutchinson–Gilford progeria syndrome (418)
LMNA
AD
176670
Mandibuloacral dysplasia with type A lipodystrophy (419)
LMNA
AD
248370
Mandibuloacral dysplasia with type B lipodystrophy (420)
ZMPSTE24
AR
608612
Werner syndrome (421)
LMNA, HGPS
AR
277700
-
11.
Genodermatoses with abnormal vascular system
Diseases
Gene
Mode of inheritance
MIM
Capillary malformation, arteriovenous malformation (422)
RASA1
AD
608354
Cerebral cavernous malformations (423)
KRIT1
AD
116860
Cerebral cavernous malformations 2 (424)
CCM2
AD
603284
Cerebral cavernous malformations 3 (425)
PDCD10
AD
603285
Erythermalgia, primary (426)
SCN9A
AD
133020
Glomuvenous malformations (427)
GLMN
AD
138000
Haemangioma, capillary infantile (428)
TEM8, VEGFR2
AD
602089
Juvenile polyposis/hereditary haemorrhagic telangiectasia syndrome (429)
SMAD4
AD
175050
Lymphoedema, hereditary, IA (430)
FLT4
AD
153100
Lymphoedema, hereditary, IC (431)
GJC2
AD
613480
Lymphoedema-distichiasis syndrome (242)
FOXC2
AD
153400
Parkes–Weber syndrome (422)
RASA1
AD
608355
Telangiectasia, hereditary haemorrhagic, of Rendu, Osler and Weber (432)
ENG
AD
187300
Telangiectasia, hereditary haemorrhagic, type 2 (433)
ACVRL1
AD
600376
-
12.
Genodermatoses with abnormal immune system
Diseases
Gene
Mode of inheritance
MIM
Autoimmune polyendocrine syndrome, type I (434)
AIRE
AR
240300
Candidiasis, familial, 2 (435)
CARD9
AR
212050
Candidiasis, familial, 4 (436)
DEC1
AR
613108
Congenital disorder of glycosylation, type Ia (437)
PMM2
AR
212065
Congenital disorder of glycosylation, type Id (438)
ALG3
AR
601110
Congenital disorder of glycosylation, type Ie (439)
DPM1
AR
608799
Congenital disorder of glycosylation, type If (440)
MPDU1
AR
609180
Congenital disorder of glycosylation, type Ij (441)
DPAGT1
AR
608093
Congenital disorder of glycosylation, type IIa (442)
MGAT2
AR
212066
Congenital disorder of glycosylation, type IIb (443)
GCS1
AR
606056
SLC35C1
AR
266265
Congenital disorder of glycosylation, type IIe (446)
COG7
AR
608779
Congenital disorder of glycosylation, type IIg (447)
COG1
AR
611209
Congenital disorder of glycosylation, type IIj (448)
COG4
AR
613489
Congenital disorder of glycosylation, type IIk (449)
ALG1
AR
608540
Congenital disorder of glycosylation, type IIm (62)
TMEM15
AR
610768
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I (450)
NCF1
AR
233700
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II (450, 451)
NCF2
AR
233710
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative (450)
CYBA
AR
233690
Granulomatous disease, chronic, X-linked (452)
CYBB
XR
306400
Hyper-IgE recurrent infection syndrome, autosomal dominant (453)
STAT3
AD
147060
Hyper-IgE recurrent infection syndrome, autosomal recessive (454)
DOCK8
AR
243700
Immunodysregulation, polyendocrinopathy and enteropathy, X-linked (455)
FOXP3
XR
304790
Kawasaki disease (456)
ITPKC
AD
611775
Leucocyte adhesion deficiency, type I (457)
ITGB2
AR
116920
Leucocyte adhesion deficiency, type III (458)
FERMT3
AR
612840
RAG1, RAG2, DCLRE1C
AR
603554
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency (461)
ADA
AR
102700
Tyrosine kinase 2 deficiency (462)
TYK2
AR
611521
WHIM syndrome (463)
CXCR4
AR
193670
Wiskott–Aldrich syndrome (464)
WAS
XR
301000
-
13.
Genodermatoses with abnormal coagulation
Diseases
Gene
Mode of inheritance
MIM
Antithrombin III deficiency (465)
SERPINC1
AD
613118
Haemolytic uraemic syndrome, atypical, susceptibility to, 1 (466, 467)
CFH, CFHR1, CFHR3
AD > AR
235400
Thrombophilia due to activated protein C resistance (468)
F5
AD
188055
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant (469)
PROC
AD
176860
Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive (470)
PROC
AR
612304
Thrombophilia, hereditary, due to protein S deficiency, autosomal dominant (471)
PROS1
AD, AR more severe
612336
Thrombosis, susceptibility to (472)
AT3, PROC, PROS, F5, HRG, PLG, PAI1, FGA, FGB, FGG, HCF2, THBD, MTHFR, HABP2
AD
188050
Thrombotic, thrombocytopenic purpura, congenital (473)
ADAMTS13
AR
274150
-
14.
Genodermatoses with tumours/risk for tumour formation
Diseases
Gene
Mode of inheritance
MIM
Adenomatous polyposis of the colon (474)
APC
AD
175100
Ataxia-telangiectasia (475)
ATM
AR
208900
Bannayan–Riley–Ruvalcaba syndrome (476)
PTEN
AD
153480
PTCH1, PTCH2, SUFU
AD
109400
Birt–Hogg–Dubé syndrome (481)
FLCN
AD
135150
RECQL
AR
210900
Brooke–Spiegler syndrome (484)
CYLD
AD
605041
Carney complex, type 1 (485)
PRKAR1A
AD
160980
Cowden disease (486)
PTEN
AD
158350
Cowden-like syndrome (487)
SDHB, SDHD
AD
612359
Cylindromatosis, familial (488)
CYLD
AD
132700
Dyskeratosis congenita, X-linked (489)
DKC1
XR
305000
TERC, TERT, TINF2
AD
127550
NOLA2, NOLA3
AR
224230
Epidermodysplasia verruciformis (495)
TMC6, TMC8
AR
226400
Leiomyomatosis, hereditary multiple, of skin (496)
FH
AD
150800
Leiomyomatosis and renal cell cancer (496)
FH
AD
605839
Lipomatosis, multiple symmetric (497)
Multiple deletions
mt
151800
Mast cell disease (498)
KIT, TET2
AD
154800
Melanoma, cutaneous malignant, susceptibility to, 2 (499)
CDKN2A
AD
155601
Melanoma, cutaneous malignant, susceptibility to, 3 (500)
CDK4
AD
609048
Melanoma, cutaneous malignant, susceptibility to, 5 (501)
MC1R
AD
613099
Melanoma-pancreatic cancer syndrome (502)
CDKN2A
AD
606719
Metachondromatosis (503)
PTPN11
AD
156250
MLH1, MSH2, MSH6, PMS2
AR
276300
Muir–Torre syndrome (508)
MSH2, MLH1
AD
158320
Multiple endocrine neoplasia, type I (509)
MEN1
AD
131100
Multiple endocrine neoplasia, type IIA (510)
RET
AD
171400
Multiple endocrine neoplasia, type IIB (511)
RET
AD
162300
Multiple endocrine neoplasia, type IV (512)
CDKN1B
AD
610755
Multiple self-healing squamous epithelioma (513)
TGFBR1
AD
132800
Neurofibromatosis type 1 (39)
NF1
AD
162200
Neurofibromatosis type 2 (514)
NF2
AD
101000
Neurofibromatosis-Noonan syndrome (515)
NF1
AD
601321
Peutz–Jeghers syndrome (516)
STK11
AD
175200
Proteus syndrome
Pubmed ID: 21793738
AKT1
Somatic mosaicism
176920
Proteus-like syndrome (517)
PTEN
AR
601728
Rothmund–Thomson syndrome (518)
RECQL4
AR
268400
Trichoepithelioma, multiple familial, 1 (519)
CYLD
AD
601606
Tuberous sclerosis 1 (520)
TSC1
AD
191100
Tuberous sclerosis 2 (521)
TSC2
AD
613254
Venous malformations, multiple cutaneous and mucosal (522)
TEK
AD
600195
Watson syndrome (523)
NF1
AD
193520
Xeroderma pigmentosum, complementation group A (524)
XPA
AR
278700
Xeroderma pigmentosum, complementation group B (525)
ERCC3
AR
610651
Xeroderma pigmentosum, complementation group C (526)
XPC
AR
278720
Xeroderma pigmentosum, complementation group D (527)
ERCC2
AR
278730
Xeroderma pigmentosum, complementation group E (528)
DDB2
AR
278740
Xeroderma pigmentosum, complementation group F (529)
ERCC4
AR
278760
Xeroderma pigmentosum, complementation group G (530)
ERCC5
AR
278780
Xeroderma pigmentosum, variant type (531)
POLH
AR
278750
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Cite this protocol
Wessagowit, V. (2013). Molecular Diagnosis of Genodermatoses. In: Has, C., Sitaru, C. (eds) Molecular Dermatology. Methods in Molecular Biology, vol 961. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-62703-227-8_3
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DOI: https://doi.org/10.1007/978-1-62703-227-8_3
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Publisher Name: Humana Press, Totowa, NJ
Print ISBN: 978-1-62703-226-1
Online ISBN: 978-1-62703-227-8
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