GeneAssociated phenotypesInheritanceClinVarHGMD
ARHGAP31Adams-Oliver syndromeAD36
DLL4Adams-Oliver syndromeAD1314
DOCK6Adams-Oliver syndromeAR2121
EOGTAdams-Oliver syndromeAR85
KCTD1*Scalp-ear-nipple syndromeAD1111
NOTCH1Aortic valve disease, Adams-Oliver syndromeAD5696
RBPJ*Adams-Oliver syndromeAD76
UBR1Johanson-Blizzard syndromeAR1171
GeneAssociated phenotypesInheritanceClinVarHGMD
AP3B1Hermansky-Pudlak syndromeAR1434
BLOC1S3Hermansky-Pudlak syndromeAR24
BLOC1S6Hermansky-Pudlak syndromeAR12
C10ORF11Albinism, oculocutaneous, type VIIAR511
DTNBP1Hermansky-Pudlak syndromeAR23
GPR143Nystagmus, congenital, Ocular albinismXL22181
HPS1*Hermansky-Pudlak syndromeAR2855
HPS3Hermansky-Pudlak syndromeAR1017
HPS4Hermansky-Pudlak syndromeAR1622
HPS5Hermansky-Pudlak syndromeAR2031
HPS6Hermansky-Pudlak syndromeAR1337
LYSTChediak-Higashi syndromeAR5097
MC1RIncreased analgesia from kappa-opioid receptor agonist, Skin/hair/eye pigmentation, variation in, 2AR486
MITFTietz albinism-deafness syndrome, Waardenburg syndrome, Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD)AD/AR3258
MLPHGriscelli syndrome, type 3AR46
MYO5AGriscelli syndromeAR79
OCA2Albinism, brown oculocutaneous, Albinism, oculocutaneous, Skin/hair/eye pigmentationAR43310
RAB27AGriscelli syndrome, Elejalde syndromeAR1854
SLC24A5Albinism, oculocutaneous, type VIAR825
SLC38A8Foveal hypoplasia 2AR1118
SLC45A2Skin/hair/eye pigmentation, Oculocutaneous albinismAD/AR16156
TYR*Albinism, oculocutaneousAR77441
TYRP1Albinism, oculocutaneousAR1055
GeneAssociated phenotypesInheritanceClinVarHGMD
ALDH18A1Spastic paraplegia, Cutis laxaAD/AR2230
ATP6V0A2Cutis laxa, Wrinkly skin syndromeAR1656
ATP7AMenkes disease, Occipital horn syndrome, Spinal muscular atrophy, distal, X-linked 3XL116354
EFEMP2Cutis laxaAR1416
ELNCutis laxa, Supravalvular aortic stenosisAD78113
FBLN5Cutis laxa, Macular degeneration, age-relatedAD/AR1322
GORABGeroderma osteodysplasticumAR815
LTBP4Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalitiesAR1017
PYCR1Cutis laxa AR type 2BAR1938
SLC2A10Arterial tortuosity syndromeAR2334
GeneAssociated phenotypesInheritanceClinVarHGMD
AK2Reticular dysgenesisAR1417
CTC1Cerebroretinal microangiopathy with calcifications and cystsAR2133
DKC1Hoyeraal-Hreidarsson syndrome, Dyskeratosis congenitaXL4874
NHP2Dyskeratosis congenitaAR53
NOP10Dyskeratosis congenitaAR11
PARN*Pulmonary fibrosis and/or bone marrow failure, Dyskeratosis congenitaAD/AR1529
RTEL1Pulmonary fibrosis and/or bone marrow failure, Dyskeratosis congenitaAD/AR5851
TERCAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD4273
TERTAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD/AR48156
TINF2Revesz syndrome, Dyskeratosis congenitaAD2542
USB1Poikiloderma with neutropeniaAR2422
WRAP53Dyskeratosis congenitaAR76
GeneAssociated phenotypesInheritanceClinVarHGMD
BCS1LBjornstad syndrome, GRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency, nuclear type 1AR4237
CDH3Hypotrichosis, congenital, with juvenile macular dystrophy, Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndromeAR730
DSPCardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis, Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Keratosis palmoplantaris striata II, Epidermolysis bullosa, lethal acantholyticAD/AR177296
EDAEctodermal dysplasia, hypohidrotic, Tooth agenesis, selectiveXL115326
EDAREctodermal dysplasia, anhidrotic, Hair morphologyAD/AR3861
EDARADDEctodermal dysplasia, anhidrotic, autosomal recessive, Ectodermal dysplasia, anhidrotic, autosomal dominant, Ectodermal dysplasia, hypohidrotic, autosomal dominant, Ectodermal dysplasia, hypohidrotic, autosomal recessiveAD/AR810
ERCC2Xeroderma pigmentosum, Trichothiodystrophy, photosensitive, Cerebrooculofacioskeletal syndrome 2AR2698
EVCWeyers acrofacial dysostosis, Ellis-van Creveld syndromeAD/AR5883
EVC2Ellis-van Creveld syndrome, Weyers acrodental dysostosisAD/AR7875
GJB2Deafness, Bart-Pumphrey syndrome, Keratoderma, palmoplantar, with deafness, Vohwinkel syndrome, Hystrix-like ichthyosis with deafness, Keratitis-icthyosis-deafness syndromeAD/AR/Digenic133405
GJB6Deafness, Deafness, autosomal dominant 3B, Ectodermal dysplasia, hidrotic (Clouston syndrome)AD/AR1033
HOXC13Ectodermal dysplasia 9AR310
HRHypotrichosis 4, Atrichia with papular lesions, Alopecia universalis congenitaAD/AR1552
IFT122*Sensenbrenner syndrome, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2AR1323
JUPArrhythmogenic right ventricular dysplasia, Naxos diseaseAD/AR846
LRP6Tooth agenesis, selective, 7AD1937
MPLKIPTrichothiodystrophy 4, nonphotosensitiveAR819
PAX9Tooth agenesis, selective, 3AD1957
PORCNFocal dermal hypoplasiaXL16121
PRKD1Congenital heart defects and ectodermal dysplasiaAD27
PVRL4Ectodermal dysplasia-syndactyly syndrome 1AR610
RMRPCartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasiaAR87123
TP63Rapp-Hodgkin syndrome, Orofacial cleft, ADULT syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Split-hand/foot malformation, Limb-mammary syndromeAD59122
WDR35Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5AR2831
WNT10AOdontoonychodermal dysplasia, Tooth agenesis, selective, Schopf-Schulz-Passarge syndromeAD/AR2381
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCC6*Pseudoxanthoma elasticumAR352377
ADAMTS2#Ehlers-Danlos syndromeAR811
ALDH18A1Spastic paraplegia, Cutis laxaAD/AR2230
ATP6V0A2Cutis laxa, Wrinkly skin syndromeAR1656
ATP7AMenkes disease, Occipital horn syndrome, Spinal muscular atrophy, distal, X-linked 3XL116354
B4GALT7Ehlers-Danlos syndrome, progeroid formAR89
BGNSpondyloepimetaphyseal dysplasia, X-linked, Meester-Loeys syndromeXL87
CBSHomocystinuria due to cystathionine beta-synthase deficiencyAR88205
CHST14Ehlers-Danlos syndrome, musculocontracturalAR1521
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler syndrome type 2AD/AR3494
COL1A1Ehlers-Danlos syndrome, Caffey disease, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4AD352962
COL1A2Ehlers-Danlos syndrome, cardiac valvular form, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4AD/AR186509
COL2A1Avascular necrosis of femoral head, Rhegmatogenous retinal detachment, Epiphyseal dysplasia, with myopia and deafness, Czech dysplasia, Achondrogenesis type 2, Platyspondylic dysplasia Torrance type, Hypochondrogenesis, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Kniest dysplasia, Spondyloperipheral dysplasia, Mild SED with premature onset arthrosis, SED with metatarsal shortening, Stickler syndrome type 1AD180561
COL3A1Ehlers-Danlos syndromeAD520631
COL5A1Ehlers-Danlos syndromeAD101154
COL5A2Ehlers-Danlos syndromeAD2435
DSE*Ehlers-Danlos syndrome, musculocontractural type 2AR43
EFEMP2Cutis laxaAR1416
ELNCutis laxa, Supravalvular aortic stenosisAD78113
FBLN5Cutis laxa, Macular degeneration, age-relatedAD/AR1322
FBN1MASS syndrome, Marfan syndrome, Acromicric dysplasia, Geleophysic dysplasia 3AD14652679
FBN2Congenital contractural arachnodactyly (Beals syndrome)AD5097
FKBP14Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing lossAR56
FLNAFrontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defectsXL133257
PLOD1Ehlers-Danlos syndromeAR3041
PYCR1Cutis laxa AR type 2BAR1938
SLC39A13Spondylodysplastic Ehlers-Danlos syndromeAR29
SMAD3Aneurysms-osteoarthritis syndrome, Loeys-Dietz syndromeAD4882
TGFB2Loeys-Dietz syndromeAD3638
TGFBR1Loeys-Dietz syndromeAD4069
TGFBR2Loeys-Dietz syndromeAD58139
ZNF469Brittle cornea syndromeAR3469
GeneAssociated phenotypesInheritanceClinVarHGMD
ATP2C1Benign chronic pemphigusAD17185
CDSNPeeling skin syndrome, HypotrichosisAD/AR614
COL17A1Epithelial recurrent erosion dystrophy (ERED), Epidermolysis bullosa, junctional, non-HerlitzAD/AR32112
COL7A1Nail disorder, nonsyndromic congenital, Transient bullous dermolysis of the newborn, Epidermolysis bullosa dystrophica, Epidermolysis bullosa, pretibial, Epidermolysis bullosa pruriginosaAD/AR159816
CSTAPeeling skin syndrome 4AR56
DSG1Severe dermatitis, multiple allergies, and metabolic wasting syndrome (SAM syndrome), Keratosis palmoplantaris striata IAD/AR1331
DSG2Arrhythmogenic right ventricular dysplasia, Dilated cardiomyopathy (DCM)AD44129
DSG4HypotrichosisAR818
DSPCardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis, Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Keratosis palmoplantaris striata II, Epidermolysis bullosa, lethal acantholyticAD/AR177296
DSTNeuropathy, hereditary sensory and autonomicAR137
EXPH5Epidermolysis bullosaAR210
FERMT1Kindler syndromeAR3283
GRIP1Fraser syndromeAR517
ITGA3Interstitial lung disease with nephrotic syndrome and epidermolysis bullosaAR611
ITGA6Epidermolysis bullosa, junctional, with pyloric stenosisAR28
ITGB4Epidermolysis bullosa simplex, Weber-Cockayne, Epidermolysis bullosa, junctional, with pyloric atresia, Epidermolysis bullosa, junctional, non-HerlitzAD/AR2499
KLHL24Epidermolysis bullosa simplex, generalized, with scarring and hair loss, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)AD/AR55
KRT1Palmoplantar keratoderma, nonepidermolytic, Ichthyosis, cyclic, with epidermolytic hyperkeratosis, Epidermolytic hyperkeratosis, Ichthyosis histrix, Curth-Macklin, Keratosis palmoplantaris striata, Palmoplantar keratoderma, epidermolyticAD2463
KRT14*Epidermolysis bullosa simplex, Dowling-Meara, Epidermolysis bullosa simplex, Dermatopathia pigmentosa reticularis, Epidermolysis bullosa simplex, Weber-Cockayne, Epidermolysis bullosa simplex, Koebner, Naegeli-Franceschetti-Jadassohn syndromeAD/AR30116
KRT5Epidermolysis bullosa simplex, Dowling-Meara, Dowling-Degos disease, Epidermolysis bullosa simplex with migratory circinate erythema, Epidermolysis bullosa simplex with mottled pigmentation, Epidermolysis bullosa simplex, Weber-Cockayne, Epidermolysis bullosa simplex, KoebnerAD38152
LAMA3Epidermolysis bullosa, junctional, Herlitz, Epidermolysis bullosa, generalized atrophic benign, Laryngoonychocutaneous syndromeAR8855
LAMB3Amelogenesis imperfecta, Epidermolysis bullosa, junctional, Herlitz, Epidermolysis bullosa, junctional, non-HerlitzAD/AR84118
LAMC2Epidermolysis bullosa, junctional, Herlitz, Epidermolysis bullosa, junctional, non-HerlitzAR5541
PKP1Ectodermal dysplasia/skin fragility syndromeAR518
PLECMuscular dystrophy, limb-girdle, Epidermolysis bullosaAR36103
TGM5Peeling skin syndromeAR1025
GeneAssociated phenotypesInheritanceClinVarHGMD
SLC30A2Zinc deficiency, transient neonataAD214
SLC39A4Acrodermatitis enteropathicaAR1350
GeneAssociated phenotypesInheritanceClinVarHGMD
BAP1Tumor predisposition syndromeAD74113
BRCA1*Pancreatic cancer, Breast-ovarian cancer, familialAD29972631
BRCA2Fanconi anemia, Medulloblastoma, Glioma susceptibility, Pancreatic cancer, Wilms tumor, Breast-ovarian cancer, familialAD/AR33692659
CDK4Melanoma, cutaneous malignantAD414
CDKN2AMelanoma, familial, Melanoma-pancreatic cancer syndromeAD87232
DDB2Xeroderma pigmentosumAR417
ERCC2Xeroderma pigmentosum, Trichothiodystrophy, photosensitive, Cerebrooculofacioskeletal syndrome 2AR2698
ERCC3Xeroderma pigmentosum, Trichothiodystrophy, photosensitiveAR1019
ERCC4Fanconi anemia, Xeroderma pigmentosum, XFE progeroid syndromeAR1370
ERCC5Xeroderma pigmentosum, Xeroderma pigmentosum/Cockayne syndromeAR2154
MITFTietz albinism-deafness syndrome, Waardenburg syndrome, Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD)AD/AR3258
POT1Glioma susceptibility 9, Melanoma, cutaneous malignant, susceptibility to 10AD234
PTCH1Basal cell nevus syndromeAD193522
PTEN*Bannayan-Riley-Ruvalcaba syndrome, Lhermitte-Duclos syndrome, Cowden syndromeAD435638
SUFUMedulloblastoma, Basal cell nevus syndromeAD2244
TP53Colorectal cancer, Li-Fraumeni syndrome, Ependymoma, intracranial, Choroid plexus papilloma, Breast cancer, familial, Adrenocortical carcinoma, Osteogenic sarcoma, Hepatoblastoma, Non-Hodgkin lymphomaAD393505
WRN*Werner syndromeAR64107
XPAXeroderma pigmentosumAR4947
XPCXeroderma pigmentosumAR6791
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCA3Interstitial lung disease, Surfactant metabolism dysfunction, pulmonaryAD/AR11287
AP3B1Hermansky-Pudlak syndromeAR1434
AP3D1Hermansky-Pudlak syndrome 10AR14
BLOC1S3Hermansky-Pudlak syndromeAR24
BLOC1S6Hermansky-Pudlak syndromeAR12
DKC1Hoyeraal-Hreidarsson syndrome, Dyskeratosis congenitaXL4874
DTNBP1Hermansky-Pudlak syndromeAR23
GPR143Nystagmus, congenital, Ocular albinismXL22181
HPS1*Hermansky-Pudlak syndromeAR2855
HPS3Hermansky-Pudlak syndromeAR1017
HPS4Hermansky-Pudlak syndromeAR1622
HPS5Hermansky-Pudlak syndromeAR2031
HPS6Hermansky-Pudlak syndromeAR1337
LYSTChediak-Higashi syndromeAR5097
OCA2Albinism, brown oculocutaneous, Albinism, oculocutaneous, Skin/hair/eye pigmentationAR43310
SFTPBSurfactant metabolism dysfunction, pulmonaryAR528
SFTPCSurfactant metabolism dysfunction, pulmonaryAD882
SLC45A2Skin/hair/eye pigmentation, Oculocutaneous albinismAD/AR16156
TERCAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD4273
TERTAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD/AR48156
TINF2Revesz syndrome, Dyskeratosis congenitaAD2542
TYR*Albinism, oculocutaneousAR77441
TYRP1Albinism, oculocutaneousAR1055
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCA12Ichthyosis, harlequin, Ichthyosis, lamellarAR37125
ABHD5Chanarin-Dorfman syndromeAR1139
ALDH3A2Sjogren-Larsson syndromeAR74111
ALOX12BIchthyosiform erythroderma, congenital, nonbullousAR2364
ALOXE3Ichthyosiform erythroderma, congenital, nonbullousAR1422
CASP14Ichthyosis, congenital, autosomal recessive 12AR11
CDSNPeeling skin syndrome, HypotrichosisAD/AR614
CERS3Ichthyosis, congenital, autosomal recessive 9AR28
CSTAPeeling skin syndrome 4AR56
CYP4F22Ichthyosis, congenitalAR4522
EBPChondrodysplasia punctata, Male EBP disorder with neurologic defects (MEND)XL4390
ERCC2Xeroderma pigmentosum, Trichothiodystrophy, photosensitive, Cerebrooculofacioskeletal syndrome 2AR2698
FLG*Icthyosis vulgarisAD/AR83109
GJA1*Oculodentodigital dysplasia mild type, Oculodentodigital dysplasia severe type, Syndactyly type 3AD/AR31107
GJB2Deafness, Bart-Pumphrey syndrome, Keratoderma, palmoplantar, with deafness, Vohwinkel syndrome, Hystrix-like ichthyosis with deafness, Keratitis-icthyosis-deafness syndromeAD/AR/Digenic133405
GJB3Deafness, Erythrokeratodermia variabilis et progressiva 1, Deafness, autosomal dominant 2BAD/AR1140
GJB4Erythrokeratodermia variabilis et progressiva, Erythrokeratodermia variabilis with erythema gyratum repensAD721
KDSRErythrokeratodermia variabilis et progressiva 4AR410
KRT1Palmoplantar keratoderma, nonepidermolytic, Ichthyosis, cyclic, with epidermolytic hyperkeratosis, Epidermolytic hyperkeratosis, Ichthyosis histrix, Curth-Macklin, Keratosis palmoplantaris striata, Palmoplantar keratoderma, epidermolyticAD2463
KRT10Erythroderma, ichthyosiform, congenital reticular, Aaru disease, Ichthyosis, cyclic, with epidermolytic hyperkeratosis, Epidermolytic hyperkeratosis, Ichthyosis with confettiAD/AR2565
KRT2Ichthyosis bullosa of Siemens, Ichthyosis exfoliativaAD918
KRT9Knuckle pads, Palmoplantar keratoderma, epidermolyticAD1231
LIPNIchthyosis, congenital, autosomal recessive 8AR11
LORVohwinkel syndrome, variant formAD310
MBTPS2Keratosis follicularis spinulosa decalvans, IFAP syndrome, Palmoplantar keratoderma, mutilating, with periorificial keratotic plaquesXL1225
MPLKIPTrichothiodystrophy 4, nonphotosensitiveAR819
NIPAL4Ichthyosis, congenital, autosomal recessiveAR618
OSMRAmyloidosis, primary localized cutaneous, 1AD514
PEX7Refsum disease, Rhizomelic CDP type 1AR4453
PHYHRefsum diseaseAR1236
PNPLA1Ichthyosis, congenital, autosomal recessive 10AR1146
SDR9C7Ichthyosis, congenital, autosomal recessive 13AR49
SLC27A4Ichthyosis prematurity syndromeAR922
SPINK5Netherton syndromeAR2985
ST14Ichthyosis, congenital, autosomal recessive 11AR49
STSSteroid sulfatase deficiencyXL1167
SUMF1Multiple sulfatase deficiencyAR2153
TGM1Ichthyosis, congenitalAR85188
TGM5Peeling skin syndromeAR1025
GeneAssociated phenotypesInheritanceClinVarHGMD
KITGastrointestinal stromal tumor, PiebaldismAD79116
KITLGHyperpigmentation with or without hypopigementation, familial progressive, Skin/hair/eye pigmentation, variation in, 7AD610
LZTR1Schwannomatosis, Noonan syndromeAD/AR3471
NF1*Watson syndrome, Neurofibromatosis, Neurofibromatosis-Noonan syndromeAD11572901
NF2Schwannomatosis, NeurofibromatosisAD66433
PTPN11Noonan syndrome, MetachondromatosisAD135140
RAF1LEOPARD syndrome, Noonan syndrome, Dilated cardiomyopathy (DCM)AD4553
SMARCB1Schwannomatosis, Rhabdoid tumor predisposition syndrome, Coffin-Siris syndrome 3AD36118
SPRED1Legius syndromeAD3871
GeneAssociated phenotypesInheritanceClinVarHGMD
AAGABKeratoderma, palmoplantar, punctateAD742
KRT16*Pachyonychia congenita, Palmoplantar keratoderma, nonepidermolytic, focalAD1831
KRT17*Pachyonychia congenita, Steatocystoma multiplexAD1529
KRT6A*Pachyonychia congenitaAD1947
KRT6B*Pachyonychia congenitaAD45
KRT6C*Palmoplantar keratoderma, nonepidermolytic, focal or diffuseAD34
TRPV3Olmsted syndrome, Palmoplantar keratoderma, nonepidermolytic focalAD1017
GeneAssociated phenotypesInheritanceClinVarHGMD
AAGABKeratoderma, palmoplantar, punctateAD742
AQP5Palmoplantar keratoderma, Bothnian typeAD56
CTSCPeriodontitis, juvenile, Haim-Munk syndrome, Papillon-Lefevre syndromeAR1992
DSG1Severe dermatitis, multiple allergies, and metabolic wasting syndrome (SAM syndrome), Keratosis palmoplantaris striata IAD/AR1331
DSPCardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis, Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Keratosis palmoplantaris striata II, Epidermolysis bullosa, lethal acantholyticAD/AR177296
ENPP1Arterial calcification, Hypophosphatemic ricketsAD/AR2272
GJB2Deafness, Bart-Pumphrey syndrome, Keratoderma, palmoplantar, with deafness, Vohwinkel syndrome, Hystrix-like ichthyosis with deafness, Keratitis-icthyosis-deafness syndromeAD/AR/Digenic133405
GJB4Erythrokeratodermia variabilis et progressiva, Erythrokeratodermia variabilis with erythema gyratum repensAD721
GJB6Deafness, Deafness, autosomal dominant 3B, Ectodermal dysplasia, hidrotic (Clouston syndrome)AD/AR1033
JUPArrhythmogenic right ventricular dysplasia, Naxos diseaseAD/AR846
KRT1Palmoplantar keratoderma, nonepidermolytic, Ichthyosis, cyclic, with epidermolytic hyperkeratosis, Epidermolytic hyperkeratosis, Ichthyosis histrix, Curth-Macklin, Keratosis palmoplantaris striata, Palmoplantar keratoderma, epidermolyticAD2463
KRT14*Epidermolysis bullosa simplex, Dowling-Meara, Epidermolysis bullosa simplex, Dermatopathia pigmentosa reticularis, Epidermolysis bullosa simplex, Weber-Cockayne, Epidermolysis bullosa simplex, Koebner, Naegeli-Franceschetti-Jadassohn syndromeAD/AR30116
KRT16*Pachyonychia congenita, Palmoplantar keratoderma, nonepidermolytic, focalAD1831
KRT17*Pachyonychia congenita, Steatocystoma multiplexAD1529
KRT6A*Pachyonychia congenitaAD1947
KRT6B*Pachyonychia congenitaAD45
KRT6C*Palmoplantar keratoderma, nonepidermolytic, focal or diffuseAD34
KRT9Knuckle pads, Palmoplantar keratoderma, epidermolyticAD1231
LORVohwinkel syndrome, variant formAD310
MBTPS2Keratosis follicularis spinulosa decalvans, IFAP syndrome, Palmoplantar keratoderma, mutilating, with periorificial keratotic plaquesXL1225
PKP1Ectodermal dysplasia/skin fragility syndromeAR518
SERPINB7Palmoplantar keratoderma, Nagashima typeAR512
SLURP1Mal de MeledaAD/AR1022
SMARCAD1Adermatoglyphia, Basan syndromeAD5
TRPV3Olmsted syndrome, Palmoplantar keratoderma, nonepidermolytic focalAD1017
WNT10AOdontoonychodermal dysplasia, Tooth agenesis, selective, Schopf-Schulz-Passarge syndromeAD/AR2381
GeneAssociated phenotypesInheritanceClinVarHGMD
AGPAT2Lipodystrophy, congenital generalizedAR2539
ALDH18A1Spastic paraplegia, Cutis laxaAD/AR2230
B4GALT7Ehlers-Danlos syndrome, progeroid formAR89
BLMBloom syndromeAR152119
BSCL2Lipodystrophy, congenital generalized, Encephalopathy, progressive, Neuropathy, distal hereditary motor, type VA, Charcot-Marie-Tooth disease type 2, Silver syndrome, Silver spastic paraplegia syndrome, Spastic paraplegia 17AR3450
COL3A1Ehlers-Danlos syndromeAD520631
ERCC2Xeroderma pigmentosum, Trichothiodystrophy, photosensitive, Cerebrooculofacioskeletal syndrome 2AR2698
ERCC4Fanconi anemia, Xeroderma pigmentosum, XFE progeroid syndromeAR1370
ERCC5Xeroderma pigmentosum, Xeroderma pigmentosum/Cockayne syndromeAR2154
ERCC6*Xeroderma Pigmentosum-Cockayne Syndrome, De Sanctis-Cacchione syndromeAD/AR87135
ERCC8UV-sensitive syndrome, Cockayne syndromeAR3464
GORABGeroderma osteodysplasticumAR815
LMNAHeart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Muscular dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford typeAD/AR250564
PYCR1Cutis laxa AR type 2BAR1938
RECQL4Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndromeAR82114
WRN*Werner syndromeAR64107
ZMPSTE24Restrictive dermopathy, lethal, Mandibuloacral dysplasia with B lipodystrophyAD/AR1333
GeneAssociated phenotypesInheritanceClinVarHGMD
TSC1Lymphangioleiomyomatosis, Tuberous sclerosisAD177372
TSC2Lymphangioleiomyomatosis, Tuberous sclerosisAD3961195
GeneAssociated phenotypesInheritanceClinVarHGMD
EDN3Hirschsprung disease, Central hypoventilation syndrome, congenital, Waardenburg syndromeAD/AR721
EDNRBHirschsprung disease, ABCD syndrome, Waardenburg syndromeAD/AR1266
KITGastrointestinal stromal tumor, PiebaldismAD79116
MITFTietz albinism-deafness syndrome, Waardenburg syndrome, Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD)AD/AR3258
PAX3Craniofacial-deafness-hand syndrome, Waardenburg syndromeAD/AR54149
SNAI2Waardenburg syndrome, PiebaldismAR24
SOX10Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease, Kallmann syndromeAD56148
GeneAssociated phenotypesInheritanceClinVarHGMD
DDB2Xeroderma pigmentosumAR417
ERCC1Cerebrooculofacioskeletal syndrome 4AR85
ERCC2Xeroderma pigmentosum, Trichothiodystrophy, photosensitive, Cerebrooculofacioskeletal syndrome 2AR2698
ERCC3Xeroderma pigmentosum, Trichothiodystrophy, photosensitiveAR1019
ERCC4Fanconi anemia, Xeroderma pigmentosum, XFE progeroid syndromeAR1370
ERCC5Xeroderma pigmentosum, Xeroderma pigmentosum/Cockayne syndromeAR2154
POLH*Xeroderma pigmentosum, variant typeAR2078
XPAXeroderma pigmentosumAR4947
XPCXeroderma pigmentosumAR6791