Dermatology
The symptoms and severity of dermatological diseases are extremely broad and highly variable. Most skin diseases are polygenic, meaning that — many different genes are involved. By identifying disease-causing variants through our comprehensive genetic tests, you can provide your patients with a more precise medical prognosis.
CentoSkin
CentoSkin is our diagnostic test for patients displaying skin disorders. Our panel includes genes for hypotricosis, epidermoly- sis bullosa, and congenital ichthyosis, among others. In addition, CentoSkin tests for albinism and other conditions with similar pigmentation abnormalities such as Hermasky-Pudlak syndrome, Griscelli snydrome and Waardenburg syndrome. For melanoma, please check our oncology section
| No. of genes: | 160 |
|---|---|
| TAT: | 25 business days |
| Coverage: | ≥99.00% ≥20x |
| Details: |
NGS including CNV analysis
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ABCA12 | 607800 | Ichthyosis, congenital, autosomal recessive 4A | AR |
| Ichthyosis, congenital, autosomal recessive 4B (harlequin) | AR | ||
| ABHD5 | 604780 | Chanarin-Dorfman syndrome | AR |
| ACD | 609377 | ?Dyskeratosis congenita, autosomal dominant 6 | AD, AR |
| ?Dyskeratosis congenita, autosomal recessive 7 | AD, AR | ||
| ALAD | 125270 | Porphyria, acute hepatic | AR |
| Lead poisoning, susceptibility to | AR | ||
| ALAS2 | 301300 | Protoporphyria, erythropoietic, X-linked | XL |
| Anemia, sideroblastic, 1 | XLR | ||
| ALDH18A1 | 138250 | Cutis laxa, autosomal dominant 3 | AD |
| Cutis laxa, autosomal recessive, type IIIA | AR | ||
| Spastic paraplegia 9B, autosomal recessive | AR | ||
| Spastic paraplegia 9A, autosomal dominant | AD | ||
| ALDH3A2 | 609523 | Sjogren-Larsson syndrome | AR |
| ALOX12B | 603741 | Ichthyosis, congenital, autosomal recessive 2 | AR |
| ALOXE3 | 607206 | Ichthyosis, congenital, autosomal recessive 3 | AR |
| AP1S1 | 603531 | MEDNIK syndrome | AR |
| AP3B1 | 603401 | Hermansky-Pudlak syndrome 2 | AR |
| AP3D1 | 607246 | ?Hermansky-Pudlak syndrome 10 | AR |
| APCDD1 | 607479 | Hypotrichosis 1 | AD |
| ARHGAP31 | 610911 | Adams-Oliver syndrome 1 | AD |
| ARSL | 300180 | Chondrodysplasia punctata, X-linked recessive | XLR |
| ATP6V0A2 | 611716 | Cutis laxa, autosomal recessive, type IIA | AR |
| Wrinkly skin syndrome | AR | ||
| ATP7A | 300011 | Menkes disease | XLR |
| Occipital horn syndrome | XLR | ||
| Spinal muscular atrophy, distal, X-linked 3 | XLR | ||
| BLOC1S3 | 609762 | Hermansky-Pudlak syndrome 8 | AR |
| BLOC1S6 | 604310 | ?Hermansky-pudlak syndrome 9 | AR |
| CASP14 | 605848 | Ichthyosis, congenital, autosomal recessive 12 | AR |
| CDSN | 602593 | Peeling skin syndrome 1 | AR |
| Hypotrichosis 2 | AD | ||
| CERS3 | 615276 | Ichthyosis, congenital, autosomal recessive 9 | AR |
| CHST8 | 610190 | ?Peeling skin syndrome 3 | AR |
| CLDN1 | 603718 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | AR |
| COL17A1 | 113811 | Epithelial recurrent erosion dystrophy | AD |
| Epidermolysis bullosa, junctional, localisata variant | AR | ||
| Epidermolysis bullosa, junctional, non-Herlitz type | AR | ||
| Epidermolysis bullosa, junctional 4, intermediate | - | ||
| COL5A1 | 120215 | Fibromuscular dysplasia, multifocal | AD |
| Ehlers-Danlos syndrome, classic type, 1 | AD | ||
| COL7A1 | 120120 | Epidermolysis bullosa dystrophica, AR | AR |
| Epidermolysis bullosa dystrophica, AD | AD | ||
| Epidermolysis bullosa pruriginosa | AD, AR | ||
| Transient bullous of the newborn | AD, AR | ||
| Epidermolysis bullosa, pretibial | AD, AR | ||
| Toenail dystrophy, isolated | AD | ||
| EBD, Bart type | AD | ||
| EBD inversa | AR | ||
| CPOX | 612732 | Harderoporphyria | AR |
| Coproporphyria | AD, AR | ||
| CSTA | 184600 | Peeling skin syndrome 4 | AR |
| CTC1 | 613129 | Cerebroretinal microangiopathy with calcifications and cysts | AR |
| CYP4F22 | 611495 | Ichthyosis, congenital, autosomal recessive 5 | AR |
| DDB2 | 600811 | Xeroderma pigmentosum, group E, DDB-negative subtype | AR |
| DKC1 | 300126 | Dyskeratosis congenita, X-linked | XLR |
| DLL4 | 605185 | Adams-Oliver syndrome 6 | AD |
| DOCK6 | 614194 | Adams-Oliver syndrome 2 | AR |
| DSG1 | 125670 | Keratosis palmoplantaris striata I, AD | AD |
| Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE | AR | ||
| DSG4 | 607892 | Hypotrichosis 6 | AR |
| DSP | 125647 | Cardiomyopathy, dilated, with woolly hair and keratoderma | AR |
| Arrhythmogenic right ventricular dysplasia 8 | AD | ||
| Keratosis palmoplantaris striata II | AD | ||
| Skin fragility-woolly hair syndrome | AR | ||
| Epidermolysis bullosa, lethal acantholytic | AR | ||
| Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis | AD | ||
| DST | 113810 | ?Neuropathy, hereditary sensory and autonomic, type VI | AR |
| Epidermolysis bullosa simplex, autosomal recessive 2 | AR | ||
| DTNBP1 | 607145 | Hermansky-Pudlak syndrome 7 | AR |
| EBP | 300205 | MEND syndrome | XLR |
| Chondrodysplasia punctata, X-linked dominant | XLD | ||
| EDA | 300451 | Tooth agenesis, selective, X-linked 1 | XLD |
| Ectodermal dysplasia 1, hypohidrotic, X-linked | XLR | ||
| EDAR | 604095 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | AR |
| Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | AD | ||
| [Hair morphology 1, hair thickness] | - | ||
| EDARADD | 606603 | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | AD |
| Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | AR | ||
| EDN3 | 131242 | Waardenburg syndrome, type 4B | AD, AR |
| Hirschsprung disease, susceptibility to, 4 | AD | ||
| Central hypoventilation syndrome, congenital | AD | ||
| EDNRB | 131244 | Waardenburg syndrome, type 4A | AD, AR |
| Hirschsprung disease, susceptibility to, 2 | AD | ||
| ABCD syndrome | AR | ||
| EFEMP2 | 604633 | Cutis laxa, autosomal recessive, type IB | AR |
| ELN | 130160 | Cutis laxa, autosomal dominant | AD |
| Supravalvar aortic stenosis | AD | ||
| ELOVL4 | 605512 | Ichthyosis, spastic quadriplegia, and mental retardation | AR |
| Stargardt disease 3 | AD | ||
| Spinocerebellar ataxia 34 | AD | ||
| EOGT | 614789 | Adams-Oliver syndrome 4 | AR |
| EPG5 | 615068 | Vici syndrome | AR |
| ERCC1 | 126380 | Cerebrooculofacioskeletal syndrome 4 | AR |
| ERCC2 | 126340 | ?Cerebrooculofacioskeletal syndrome 2 | AR |
| Xeroderma pigmentosum, group D | AR | ||
| Trichothiodystrophy 1, photosensitive | AR | ||
| ERCC3 | 133510 | Xeroderma pigmentosum, group B | AR |
| Trichothiodystrophy 2, photosensitive | AR | ||
| ERCC4 | 133520 | XFE progeroid syndrome | AR |
| Xeroderma pigmentosum, type F/Cockayne syndrome | AR | ||
| Xeroderma pigmentosum, group F | AR | ||
| Fanconi anemia, complementation group Q | AR | ||
| ERCC5 | 133530 | Xeroderma pigmentosum, group G | AR |
| Cerebrooculofacioskeletal syndrome 3 | AR | ||
| Xeroderma pigmentosum, group G/Cockayne syndrome | AR | ||
| EXPH5 | 612878 | Epidermolysis bullosa, nonspecific, autosomal recessive | AR |
| FBLN5 | 604580 | Cutis laxa, autosomal recessive, type IA | AR |
| Neuropathy, hereditary, with or without age-related macular degeneration | AD | ||
| Charcot-Marie-Tooth disease, demyelinating, type 1H | AD | ||
| Macular degeneration, age-related, 3 | AD | ||
| ?Cutis laxa, autosomal dominant 2 | AD | ||
| FECH | 612386 | Protoporphyria, erythropoietic, 1 | AR |
| FERMT1 | 607900 | Kindler syndrome | AR |
| FLG | 135940 | Ichthyosis vulgaris | AD, AR |
| Dermatitis, atopic, susceptibility to, 2 | - | ||
| FLG2 | 616284 | Peeling skin syndrome 6 | AR |
| GJB2 | 121011 | Keratoderma, palmoplantar, with deafness | AD |
| Keratitis-ichthyosis-deafness syndrome | AD | ||
| Deafness, autosomal dominant 3A | AD | ||
| Hystrix-like ichthyosis with deafness | AD | ||
| Bart-Pumphrey syndrome | AD | ||
| Vohwinkel syndrome | AD | ||
| Deafness, autosomal recessive 1A | AR, DD | ||
| GJB3 | 603324 | Deafness, autosomal dominant 2B | AD |
| Erythrokeratodermia variabilis et progressiva 1 | AD, AR | ||
| Deafness, digenic, GJB2/GJB3 | AR, DD | ||
| GJB4 | 605425 | Erythrokeratodermia variabilis et progressiva 2 | AD |
| GJB6 | 604418 | Deafness, autosomal recessive 1B | AR |
| Deafness, digenic GJB2/GJB6 | AR, DD | ||
| Ectodermal dysplasia 2, Clouston type | AD | ||
| Deafness, autosomal dominant 3B | AD | ||
| GPR143 | 300808 | Nystagmus 6, congenital, X-linked | XLR |
| Ocular albinism, type I, Nettleship-Falls type | XL | ||
| GTF2H5 | 608780 | Trichothiodystrophy 3, photosensitive | AR |
| HMBS | 609806 | Porphyria, acute intermittent | AD |
| Porphyria, acute intermittent, nonerythroid variant | AD | ||
| HPS1 | 604982 | Hermansky-Pudlak syndrome 1 | AR |
| HPS3 | 606118 | Hermansky-Pudlak syndrome 3 | AR |
| HPS4 | 606682 | Hermansky-Pudlak syndrome 4 | AR |
| HPS5 | 607521 | Hermansky-Pudlak syndrome 5 | AR |
| HPS6 | 607522 | Hermansky-Pudlak syndrome 6 | AR |
| HR | 602302 | Alopecia universalis | AR |
| Atrichia with papular lesions | AR | ||
| Hypotrichosis 4 | AD | ||
| ITGA3 | 605025 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | AR |
| ITGA6 | 147556 | Epidermolysis bullosa, junctional, with pyloric stenosis | AR |
| Epidermolysis bullosa, junctional 6, with pyloric atresia | - | ||
| ITGB4 | 147557 | Epidermolysis bullosa, junctional, non-Herlitz type | AR |
| Epidermolysis bullosa, junctional 5A, intermediate | - | ||
| Epidermolysis bullosa of hands and feet | AD | ||
| Epidermolysis bullosa, junctional, with pyloric atresia | AR | ||
| JUP | 173325 | Arrhythmogenic right ventricular dysplasia 12 | AD |
| Naxos disease | AR | ||
| KCTD1 | 613420 | Scalp-ear-nipple syndrome | AD |
| KDSR | 136440 | Erythrokeratodermia variabilis et progressiva 4 | AR |
| KITLG | 184745 | [Skin/hair/eye pigmentation 7, blond/brown hair] | - |
| Deafness, autosomal dominant 69, unilateral or asymmetric | AD | ||
| Hyperpigmentation with or without hypopigmentation | AD | ||
| Waardenburg syndrome, type 2F | - | ||
| KRT1 | 139350 | Ichthyosis histrix, Curth-Macklin type | AD |
| Epidermolytic hyperkeratosis | AD, AR | ||
| Keratosis palmoplantaris striata III | - | ||
| Ichthyosis, cyclic, with epidermolytic hyperkeratosis | AD | ||
| Palmoplantar keratoderma, epidermolytic | AD | ||
| Palmoplantar keratoderma, nonepidermolytic | AD | ||
| Ichthyosis, annular epidermolytic 2 | - | ||
| KRT10 | 148080 | Ichthyosis, cyclic, with epidermolytic hyperkeratosis | AD |
| Epidermolytic hyperkeratosis | AD, AR | ||
| Ichthyosis with confetti | AD | ||
| ?Ichthyosis histrix, Lambert type | - | ||
| KRT14 | 148066 | Epidermolysis bullosa simplex, Weber-Cockayne type | AD |
| Epidermolysis bullosa simplex, recessive 1 | AR | ||
| Dermatopathia pigmentosa reticularis | AD | ||
| Epidermolysis bullosa simplex, Dowling-Meara type | AD | ||
| Naegeli-Franceschetti-Jadassohn syndrome | AD | ||
| Epidermolysis bullosa simplex, Koebner type | AD | ||
| KRT2 | 600194 | Ichthyosis bullosa of Siemens | AD |
| KRT5 | 148040 | Epidermolysis bullosa simplex-MP | AD |
| Epidermolysis bullosa simplex, Koebner type | AD | ||
| Epidermolysis bullosa simplex, recessive 1 | AR | ||
| Epidermolysis bullosa simplex, Weber-Cockayne type | AD | ||
| Epidermolysis bullosa simplex 2B, generalized intermediate | AD | ||
| Epidermolysis bullosa simplex 2A, generalized severe | AD | ||
| Epidermolysis bullosa simplex-MCR | - | ||
| Dowling-Degos disease 1 | AD | ||
| Epidermolysis bullosa simplex 2C, localized | AD | ||
| Epidermolysis bullosa simplex, Dowling-Meara type | AD | ||
| Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive | AR | ||
| KRT74 | 608248 | Woolly hair, autosomal dominant | AD |
| ?Ectodermal dysplasia 7, hair/nail type | AR | ||
| ?Hypotrichosis 3 | AD | ||
| KRT85 | 602767 | Ectodermal dysplasia 4, hair/nail type | AR |
| KRT9 | 607606 | Palmoplantar keratoderma, epidermolytic | AD |
| LAMA3 | 600805 | Laryngoonychocutaneous syndrome | AR |
| Epidermolysis bullosa, junctional, Herlitz type | AR | ||
| Epidermolysis bullosa, junctional 2B, severe | - | ||
| Epidermolysis bullosa, generalized atrophic benign | AR | ||
| Epidermolysis bullosa, junctional 2A, intermediate | - | ||
| LAMB3 | 150310 | Epidermolysis bullosa, junctional, non-Herlitz type | AR |
| Amelogenesis imperfecta, type IA | AD | ||
| Epidermolysis bullosa, junctional, Herlitz type | AR | ||
| LAMC2 | 150292 | Epidermolysis bullosa, junctional, non-Herlitz type | AR |
| Epidermolysis bullosa, junctional, Herlitz type | AR | ||
| Epidermolysis bullosa, junctional 3B, severe | - | ||
| Epidermolysis bullosa, junctional 3A, intermediate | - | ||
| LIPH | 607365 | Woolly hair, autosomal recessive 2 with or without hypotrichosis | AR |
| Hypotrichosis 7 | AR | ||
| LIPN | 613924 | Ichthyosis, congenital, autosomal recessive 8 | AR |
| LORICRIN | 152445 | Vohwinkel syndrome with ichthyosis | AD |
| LPAR6 | 609239 | Woolly hair, autosomal recessive 1, with or without hypotrichosis | AR |
| Hypotrichosis 8 | AR | ||
| LRMDA | 614537 | Albinism, oculocutaneous, type VII | AR |
| LYST | 606897 | Chediak-Higashi syndrome | AR |
| MBTPS2 | 300294 | Osteogenesis imperfecta, type XIX | XLR |
| ?Olmsted syndrome, X-linked | XLR | ||
| Keratosis follicularis spinulosa decalvans, X-linked | XLR | ||
| IFAP syndrome with or without BRESHECK syndrome | XLR | ||
| MC1R | 155555 | [Skin/hair/eye pigmentation 2, blond hair/fair skin] | AR |
| [Skin/hair/eye pigmentation 2, red hair/fair skin] | AR | ||
| Melanoma, cutaneous malignant, 5 | - | ||
| UV-induced skin damage | AR | ||
| [Analgesia from kappa-opioid receptor agonist, female-specific] | - | ||
| Albinism, oculocutaneous, type II, modifier of | AR | ||
| MITF | 156845 | Melanoma, cutaneous malignant, susceptibility to, 8 | - |
| Waardenburg syndrome, type 2A | AD | ||
| Waardenburg syndrome/ocular albinism, digenic | - | ||
| Tietz albinism-deafness syndrome | AD | ||
| COMMAD syndrome | AR | ||
| MLPH | 606526 | Griscelli syndrome, type 3 | AR |
| MMP1 | 120353 | COPD, rate of decline of lung function in | - |
| Epidermolysis bullosa dystrophica, autosomal recessive, modifier of | AR | ||
| MPLKIP | 609188 | Trichothiodystrophy 4, nonphotosensitive | AR |
| MYH9 | 160775 | Deafness, autosomal dominant 17 | AD |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | AD | ||
| MYO5A | 160777 | Griscelli syndrome, type 1 | AR |
| NECTIN1 | 600644 | Orofacial cleft 7 | AR |
| Cleft lip/palate-ectodermal dysplasia syndrome | AR | ||
| NHP2 | 606470 | Dyskeratosis congenita, autosomal recessive 2 | AR |
| NIPAL4 | 609383 | Ichthyosis, congenital, autosomal recessive 6 | AR |
| NOP10 | 606471 | Dyskeratosis congenita, autosomal recessive 1 | AR |
| NOTCH1 | 190198 | Adams-Oliver syndrome 5 | AD |
| Aortic valve disease 1 | AD | ||
| NSDHL | 300275 | CK syndrome | XLR |
| CHILD syndrome | XLD | ||
| OCA2 | 611409 | Albinism, oculocutaneous, type II | AR |
| [Skin/hair/eye pigmentation 1, blue/nonblue eyes] | AR | ||
| [Skin/hair/eye pigmentation 1, blond/brown hair] | AR | ||
| Albinism, brown oculocutaneous | AR | ||
| PARN | 604212 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 | AD |
| Dyskeratosis congenita, autosomal recessive 6 | AR | ||
| PAX3 | 606597 | Waardenburg syndrome, type 3 | AD, AR |
| Rhabdomyosarcoma 2, alveolar | SM | ||
| Craniofacial-deafness-hand syndrome | AD | ||
| Waardenburg syndrome, type 1 | AD | ||
| PEX7 | 601757 | Peroxisome biogenesis disorder 9B | AR |
| Rhizomelic chondrodysplasia punctata, type 1 | AR | ||
| PHGDH | 606879 | Phosphoglycerate dehydrogenase deficiency | AR |
| Neu-Laxova syndrome 1 | AR | ||
| PHYH | 602026 | Refsum disease | AR |
| PKP1 | 601975 | Ectodermal dysplasia/skin fragility syndrome | AR |
| PLEC | 601282 | Epidermolysis bullosa simplex, Ogna type | AD |
| Epidermolysis bullosa simplex with muscular dystrophy | AR | ||
| ?Epidermolysis bullosa simplex with nail dystrophy | AR | ||
| Epidermolysis bullosa simplex with pyloric atresia | AR | ||
| Muscular dystrophy, limb-girdle, autosomal recessive 17 | AR | ||
| PNPLA1 | 612121 | Ichthyosis, congenital, autosomal recessive 10 | AR |
| POLH | 603968 | Xeroderma pigmentosum, variant type | AR |
| POMP | 613386 | Proteasome-associated autoinflammatory syndrome 2 | AD |
| Keratosis linearis with ichthyosis congenita and sclerosing keratoderma | AR | ||
| PPOX | 600923 | Porphyria variegata | AD |
| PSAT1 | 610936 | Neu-Laxova syndrome 2 | AR |
| ?Phosphoserine aminotransferase deficiency | AR | ||
| PYCR1 | 179035 | Cutis laxa, autosomal recessive, type IIB | AR |
| Cutis laxa, autosomal recessive, type IIIB | AR | ||
| RAB27A | 603868 | Griscelli syndrome, type 2 | AR |
| RBPJ | 147183 | Adams-Oliver syndrome 3 | AD |
| RPL21 | 603636 | Hypotrichosis 12 | AD |
| RTEL1 | 608833 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 | AD |
| Dyskeratosis congenita, autosomal dominant 4 | AD, AR | ||
| Dyskeratosis congenita, autosomal recessive 5 | AD, AR | ||
| SDR9C7 | 609769 | Ichthyosis, congenital, autosomal recessive 13 | AR |
| SERPINB8 | 601697 | Peeling skin syndrome 5 | AR |
| SLC24A5 | 609802 | Albinism, oculocutaneous, type VI | AR |
| [Skin/hair/eye pigmentation 4, fair/dark skin] | AR | ||
| SLC27A4 | 604194 | Ichthyosis prematurity syndrome | AR |
| SLC38A8 | 615585 | Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis | AR |
| SLC45A2 | 606202 | [Skin/hair/eye pigmentation 5, black/nonblack hair] | AR |
| [Skin/hair/eye pigmentation 5, dark/fair skin] | AR | ||
| Albinism, oculocutaneous, type IV | AR | ||
| [Skin/hair/eye pigmentation 5, dark/light eyes] | AR | ||
| SNAI2 | 602150 | Waardenburg syndrome, type 2D | AR |
| Piebaldism | AD | ||
| SNAP29 | 604202 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | AR |
| SNRPE | 128260 | Hypotrichosis 11 | AD |
| SOX10 | 602229 | Waardenburg syndrome, type 4C | AD |
| PCWH syndrome | AD | ||
| Waardenburg syndrome, type 2E, with or without neurologic involvement | AD | ||
| SPINK5 | 605010 | Netherton syndrome | AR |
| ST14 | 606797 | Ichthyosis, congenital, autosomal recessive 11 | AR |
| STS | 300747 | Ichthyosis, X-linked | XLR |
| SUMF1 | 607939 | Multiple sulfatase deficiency | AR |
| TERT | 187270 | Melanoma, cutaneous malignant, 9 | - |
| Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 | AD | ||
| Dyskeratosis congenita, autosomal dominant 2 | AD, AR | ||
| Leukemia, acute myeloid | AD, SM | ||
| Dyskeratosis congenita, autosomal recessive 4 | AD, AR | ||
| TGM1 | 190195 | Ichthyosis, congenital, autosomal recessive 1 | AR |
| TGM5 | 603805 | Peeling skin syndrome 2 | AR |
| TINF2 | 604319 | Revesz syndrome | AD |
| Dyskeratosis congenita, autosomal dominant 3 | AD | ||
| TYR | 606933 | [Skin/hair/eye pigmentation 3, light/dark/freckling skin] | AD |
| Waardenburg syndrome/albinism, digenic | - | ||
| [Skin/hair/eye pigmentation 3, blue/green eyes] | AD | ||
| Melanoma, cutaneous malignant, susceptibility to, 8 | AD | ||
| Albinism, oculocutaneous, type IA | AR | ||
| Albinism, oculocutaneous, type IB | AR | ||
| TYRP1 | 115501 | [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)] | - |
| Albinism, oculocutaneous, type III | AR | ||
| UROD | 613521 | Porphyria, hepatoerythropoietic | AD, AR |
| Porphyria cutanea tarda | AD, AR | ||
| UROS | 606938 | Porphyria, congenital erythropoietic | AR |
| USB1 | 613276 | Poikiloderma with neutropenia | AR |
| VPS33B | 608552 | Arthrogryposis, renal dysfunction, and cholestasis 1 | AR |
| Cholestasis, progressive familial intrahepatic, 12 | - | ||
| Keratoderma-ichthyosis-deafness syndrome, autosomal recessive | - | ||
| WNT10A | 606268 | Odontoonychodermal dysplasia | AR |
| Tooth agenesis, selective, 4 | AD, AR | ||
| Schopf-Schulz-Passarge syndrome | AR | ||
| WRAP53 | 612661 | Dyskeratosis congenita, autosomal recessive 3 | AR |
| XPA | 611153 | Xeroderma pigmentosum, group A | AR |
| XPC | 613208 | Xeroderma pigmentosum, group C | AR |
| ZMPSTE24 | 606480 | Restrictive dermopathy, lethal | AR |
| Mandibuloacral dysplasia with type B lipodystrophy | AR |
COMMON SYNDROMES AND DISORDERS COVERED
- Albinism oculocutaneous
- Chediak-Higashi syndrome
- Congenital ichthyosis
- Cutis laxa
- Epidermolysis bullosa
- Griscelli syndrome
- Hermasky-Pudlak syndrome
- Ichthyosis extended
- Non-syndromic hypotrichosis
- Waardenburg syndrome
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