ORPHA:65282
Carvajal syndrome
Synonyms: KWWH type II · Keratoderma with woolly hair type II · Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome · Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome · Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome · Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare genetic ectodermal dysplasia syndrome characterized by woolly hair (presenting at birth), palmoplantar keratoderma (developing in the first year of life) and dilated cardiomyopathy with predominant left ventricle involvement (developing in childhood) which can lead to life-threatening heart failure in childhood or adolescence.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Carvajal syndrome | KWWH type II · Keratoderma with woolly hair type II · Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome · Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome · Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome · Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome |
| fr | Syndrome de Carvajal | KWWH type II · Syndrome de cheveux laineux-hyperkératose palmoplantaire-cardiomyopathie dilatée · Syndrome de cheveux laineux-kératodermie palmoplantaire-cardiomyopathie dilatée |
| de | Carvajal-Syndrom | KWWH Typ II · Keratoderm mit Wollhaaren Typ II · Wollhaar-palmoplantare Hyperkeratose-dilatative Kardiomyopathie-Syndrom · Wollhaare-Palmoplantarkeratose-dilatative Kardiomyopathie-Syndrom |
| es | Síndrome de Carvajal | KWWH tipo II · Queratodermia con cabello lanoso tipo II · Síndrome de cabello lanoso-hiperqueratosis palmoplantar-miocardiopatía dilatada · Síndrome de cabello lanoso-queratodermia palmoplantar-miocardiopatía dilatada |
| it | Sindrome di Carvajal | Capelli lanosi - cheratoderma palmoplantare - cardiomiopatia dilatativa · Sindrome capelli lanosi-cheratoderma palmoplantare-cardiomiopatia dilatativa · Sindrome capelli lanosi-ipercheratosi palmoplantare-cardiomiopatia dilatativa |
| nl | Syndroom van Carvajal | KWWH type II · Keratodermie met wollig haar type II · Wollig haar - palmoplantaire hyperkeratose - gedilateerde cardiomyopathie-syndroom · Wollig haar - palmoplantaire keratodermie - gedilateerde cardiomyopathie-syndroom |
| pt | Síndrome Carvajal | Síndrome do cabelo lanoso-hiperqueratose palmo-plantar-miocardiopatia dilatada · Síndrome do cabelo lanoso-queratodermia palmo-plantar-miocardiopatia dilatada |
| pl | Zespół włosy wełniste-rogowiec dłoni i stóp-kardiomiopatia rozstrzeniowa | Włosy wełniste - hiperkeratoza dłoni i stóp - kardiomiopatia rozstrzeniowa · Włosy wełniste - rogowiec dłoni i stóp - kardiomiopatia rozstrzeniowa · Zespół Carvajala · Zespół włosy wełniste-hiperkeratoza dłoni i stóp-kardiomiopatia rozstrzeniowa |
| cs | Carvajalův syndrom | KWWH typ II · Keratoderma s vlnitými vlasy, typ II · Syndrom zahrnující vlnité vlasy, palmoplantární keratoderma a dilatační kardiomyopatii |
| uk | Синдром Карвахаля | Кератодермія з вовняним волоссям II типу · KWWH тип II · Синдром шерстяного волосся-долонно-підошовного гіперкератозу-дилатаційної кардіоміопатії · Синдром шерстяного волосся-пальмоплантарної кератодермії та дилатаційної кардіоміопатії · Синдром шерстяного волосся-пальмоплантарного гіперкератозу-дилатаційної кардіоміопатії · Синдром шерстяного волосся-пальмоплантарної кератодермії та дилатаційної кардіоміопатії |
| zh | Carvajal综合征 | 羊毛状发-掌跖角化过度-扩张性心肌病综合征 |
| tr | Carvajal sendromu | KWWH tip II · Yünlü saç tipi II ile keratoderma · Kıllı saç-palmoplantar keratoderma-dilate kardiyomiyopati sendromu · Kıllı saç-palmoplantar keratoderma-dilate kardiyomiyopati sendromu · Kıllı saç-palmoplantar hiperkeratoz-dilate kardiyomiyopati sendromu · Yünlü saç-palmoplantar hiperkeratoz-dilate kardiyomiyopati sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605676 | E | validated | |
| OMIM | 615821 | BTNT | validated | |
| ICD-10 | I42.0 | NTBT | attributed | validated |
| ICD-11 | BC43.6 | NTBT | index | validated |
| MONDO | 0011581 | E | validated | |
| MONDO | 11581 | E | validated | |
| MeSH | C535581 | E | validated | |
| UMLS | C1854063 | E | validated | |
| GARD | 5595 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:98357Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases - ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:98027Rare disease with odontological manifestation
rare odontological diseases - ORPHA:217619Syndrome associated with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:434809Syndrome with woolly hair
rare genetic diseases; rare skin diseases
No children.
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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 | 11063735[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 22795705[PMID]_20940358[PMID]_16628197[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22795705[PMID]_20940358[PMID]_16628197[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.
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HPO phenotypes
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0005588 | Patchy palmoplantar keratoderma | |
| HP:0002224 | Woolly hair | |
| Occasional (29-5%) | ||
| HP:0001635 | Congestive heart failure | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/65282
- This record as JSON: /data/d/65282.json