Ectodermal Dysplasia Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive, X-linked dominant mode(s) within the Skin disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive, X-linked dominant mode(s) within the Skin disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | NECTIN4/81607 | nectin cell adhesion molecule 4 | 1q23.3 | Chr1, NC_000001.11 (161070998..161089558, complement) |
18561 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | EDARADD/128178 | EDAR associated via death domain | 1q43 | Chr1, NC_000001.11 (236394286..236484930) |
90645 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | EDAR/10913 | ectodysplasin A receptor | 2q13 | Chr2, NC_000002.12 (108894471..108989220, complement) |
94750 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | IKBKG/8517 | inhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Xq28 | ChrX, NC_000023.11 (154541238..154565046) |
23809 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | NFKBIA/4792 | NFKB inhibitor alpha | 14q13.2 | Chr14, NC_000014.9 (35401513..35404749, complement) |
3237 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | HOXC13/3229 | homeobox C13 | 12q13.13 | Chr12, NC_000012.12 (53938831..53946544) |
7714 nt | 2 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | KRT85/3891 | keratin 85 | 12q13.13 | Chr12, NC_000012.12 (52360006..52367481, complement) |
7476 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | KDF1/126695 | keratinocyte differentiation factor 1 | 1p36.11 | Chr1, NC_000001.11 (26949562..26960468, complement) |
10907 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | KREMEN1/83999 | kringle containing transmembrane protein 1 | 22q12.1 | Chr22, NC_000022.11 (29073035..29168333) |
95299 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | TSPEAR/54084 | thrombospondin type laminin G domain and EAR repeats | 21q22.3 | Chr21, NC_000021.9 (44497893..44711572, complement) |
213680 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | CST6/1474 | cystatin E/M | 11q13.1 | Chr11, NC_000011.10 (66012008..66013505) |
1498 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | RHOA/387 | ras homolog family member A | 3p21.31 | Chr3, NC_000003.12 (49359145..49411976, complement) |
52832 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |