Erythrokeratodermia-cardiomyopathy syndrome
Synonyms: EKC syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
Erythrokeratodermia-cardiomyopathy syndrome is a rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Erythrokeratodermia-cardiomyopathy syndrome | EKC syndrome |
| fr | Syndrome d'érythrokératodermie-cardiomyopathie | Syndrome EKC |
| de | Erythrokeratodermie-Kardiomyopathie-Syndrom | EKC-Syndrom |
| es | Síndrome de eritroqueratodermia-miocardiopatía | Síndrome EKC |
| it | Eritrocheratodermia con cardiomiopatia | |
| nl | Erytrokeratodermie - cardiomyopathie-syndroom | EKC-syndroom |
| pt | Síndrome de eritroqueratodermia-miocardiopatia | |
| pl | Zespół erytrokeratodermii i kardiomiopatii | Zespół EKC |
| cs | Syndrom zahrnující erytrokeratodermii a kardiomyopatii | EKC syndrome · EKC syndrom |
| uk | Синдром еритрокератодермії-кардіоміопатії | Синдром EKC |
| zh | 皮肤红色角化病-心肌病综合征 | EKC综合征 |
| tr | Eritrokeratodermi-kardiyomiyopati sendromu | EKC sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615821 | E | validated | |
| ICD-10 | I42.0 | NTBT | attributed | validated |
| ICD-11 | BC43.0 | NTBT | attributed | validated |
| MONDO | 0018774 | E | validated | |
| MONDO | 14355 | E | validated | |
| MONDO | 18774 | E | validated | |
| UMLS | C5568136 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:79355Erythrokeratoderma
rare skin diseases - ORPHA:183438Genetic erythrokeratoderma
rare genetic diseases - ORPHA:98027Rare disease with odontological manifestation
rare odontological diseases - ORPHA:77830Rare genetic odontologic disease
rare genetic diseases - ORPHA:217619Syndrome associated with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DSP | Disease-causing germline mutation(s) in | Assessed | HGNC:3052 | ENSG00000096696 | 125647 | 6p24.3 | desmoplakin | 26604139[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 26604139[PMID]_27408699[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26604139[PMID]_27408699[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/476096
- This record as JSON: /data/d/476096.json