ORPHA:317
Erythrokeratodermia variabilis
Synonyms: EKV · Erythrokeratodermia variabilis, Mendes da Costa type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under Erythrokeratoderma variabilis progressiva
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Erythrokeratodermia variabilis | EKV · Erythrokeratodermia variabilis, Mendes da Costa type |
| fr | Erythrokératodermie variable | EKV · Erythrokératodermie variable type Mendes da Costa |
| de | Erythrokeratodermia variabilis | EKV · Erythrokeratoderma variabilis Typ Mendes da Costa |
| es | Eritroqueratodermia variable | EKV · Eritroqueratodermia variable tipo Mendes da Costa |
| it | Eritrocheratodermia variabilis | EKV · Eritrocheratodermia variabilis, tipo Mendes da Costa |
| nl | Erythrokeratodermia variabilis | EKV · Erythrokeratodermia variabilis, Mendes da Costa-type |
| pt | Eritroqueratodermia variável tipo Mendes da Costa | |
| pl | Erytrokeratodermia zmiennopostaciowa | EKV · Erythrokeratodermia zmienna, typ Mendes da Costa |
| cs | Erythrokeratodermia variabilis | EKV · Erythrokeratodermia variabilis, Mendes da Costa typ |
| uk | Еритрокератодермія варіабельна | EKV · Еритрокератодермія варіабельна, тип Мендеса да Коста |
| zh | 变异性红角皮病 | 变异性红角皮病Mendes da Costa型 |
| tr | Eritrokeratodermi variabilis | EKV · Eritrokeratodermi variabilis, Mendes da Costa tipi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 133200 | NTBT | validated | |
| OMIM | 617524 | BTNT | validated | |
| OMIM | 617525 | BTNT | validated | |
| OMIM | 617526 | BTNT | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.0Y | NTBT | index | validated |
| MONDO | 0017851 | E | validated | |
| MeSH | D056266 | E | validated | |
| UMLS | C0265961 | E | validated | |
| MedDRA | 10049048 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:308166Erythrokeratoderma variabilis progressiva
rare genetic diseases; rare skin diseases - ORPHA:281082Inherited non-syndromic ichthyosis
rare genetic diseases; rare skin diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KDSR | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4021 | ENSG00000119537 | 136440 | 18q21.33 | 3-ketodihydrosphingosine reductase | 28575652[PMID] |
| GJA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4274 | ENSG00000152661 | 121014 | 6q22.31 | gap junction protein alpha 1 | 25398053[PMID] |
| GJB3 | Disease-causing germline mutation(s) in | Assessed | HGNC:4285 | ENSG00000188910 | 603324 | 1p34.3 | gap junction protein beta 3 | 21564177[PMID] |
| GJB4 | Disease-causing germline mutation(s) in | Assessed | HGNC:4286 | ENSG00000189433 | 605425 | 1p34.3 | gap junction protein beta 4 | 23037955[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0010783 | Erythema | |
| HP:0000962 | Hyperkeratosis | |
| HP:0001034 | Hypermelanotic macule | |
| HP:0012733 | Macule | |
| HP:0000252 | Microcephaly | |
| HP:0004322 | Short stature | |
| HP:0000988 | Skin rash | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0001595 | Abnormality of the hair | |
| HP:0001596 | Alopecia | |
| HP:0000518 | Cataract | |
| HP:0000819 | Diabetes mellitus | |
| HP:0000958 | Dry skin | |
| HP:0000501 | Glaucoma | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0005588 | Patchy palmoplantar keratoderma | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001597 | Abnormal nail morphology | |
| HP:0000035 | Abnormal testis morphology | |
| HP:0001156 | Brachydactyly | |
| HP:0007957 | Corneal opacity | |
| HP:0002230 | Generalized hirsutism | |
| HP:0000365 | Hearing impairment | |
| HP:0001249 | Intellectual disability | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0000411 | Protruding ear | |
| HP:0001182 | Tapered finger | |
Run the differential on the 10 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/317
- This record as JSON: /data/d/317.json