ORPHA:34217
Naxos disease
Synonyms: KWWH type I · Keratoderma with woolly hair type I · Keratosis palmoplantaris with arrythmogenic cardiomyopathy · Naxos syndrome · Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy · Palmoplantar keratoderma with arrythmogenic cardiomyopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar woolly hair and palmoplantar keratoderma.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Naxos disease | KWWH type I · Keratoderma with woolly hair type I · Keratosis palmoplantaris with arrythmogenic cardiomyopathy · Naxos syndrome · Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy · Palmoplantar keratoderma with arrythmogenic cardiomyopathy |
| fr | Maladie de Naxos | KWWH type I · Syndrome d'hyperkératose palmoplantaire-cardiomyopathie arythmogène · Syndrome de Naxos · Syndrome de kératodermie palmoplantaire-cardiomyopathie arythmogène |
| de | Naxos-Krankheit | KWWH Typ I · Keratoderm mit Wollhaaren Typ I · Naxos-Syndrom · Palmoplantare Hyperkeratose mit arrythmogener Kardiomyopathie · Palmoplantarkeratose mit arrhythmogener Kardiomyopathie |
| es | Enfermedad de Naxos | Hiperqueratosis palmoplantar con miocardiopatía arritmogénica · Queratodermia con cabello lanoso tipo I · Queratodermia palmoplantar con miocardiopatía arritmogénica · Queratosis palmoplantar con miocardiopatía arritmogénica · Síndrome de Naxos |
| it | Malattia di Naxos | Cheratoderma con capelli lanosi, tipo I · Cheratoderma palmoplantare con cardiomiopatia aritmogena · Cheratosi palmoplantare con cardiomiopatia aritmogena · Ipercheratosi palmoplantare con cardiomiopatia aritmogena · KWWH, tipo I · Sindrome di Naxos |
| nl | Ziekte van Naxos | Hyperkeratose van handpalm of voetzool met aritmogene cardiomyopathie · KWWH type I · Keratodermie met wollig haar type I · Keratodermie van handpalm of voetzool met aritmogene cardiomyopathie · Keratosis palmoplantaris met aritmogene cardiomyopathie · Palmoplantaire hyperkeratose met aritmogene cardiomyopathie · Palmoplantaire keratodermie met aritmogene cardiomyopathie · Syndroom van Naxos |
| pt | Doença Naxos | Hiperqueratose palmo-plantar com miocardiopatia arritmogénica · KWWH tipo I · Queratodermia com cabelo encaracolado tipo I · Queratodermia palmo-plantar com miocardiopatia arritmogénica · Queratose palmo-plantar com miocardiopatia arritmogénica · Síndrome Naxos |
| pl | Choroba Naxos | Hiperkeratoza dłoni i stóp z kardiomiopatią arytmogenną · KWWH typu I · Rogowiec dłoni i stóp z kardiomiopatią arytmogenną · Rogowiec dłoniowo-podeszwowy z kardiomiopatią arytmogenną · Rogowiec z włosami wełnistymi typu I |
| cs | Naxosská nemoc | KWWH typ I · Keratosis palmoplantaris s arytmogenní kardiomyopatií · Palmoplantární hyperkeratóza s arytmogenní kardiomyopatií · Palmoplantární keratoderma s arytmogenní kardiomyopatií · Keratoderma s vlněnými vlasy, typ I |
| uk | Хвороба Наксоса | Кератодермія з вовняним волоссям I типу · Кератоз долонь з аритмогенною кардіоміопатією · KWWH тип I · Синдром Наксоса · Долонно-підошовний гіперкератоз з аритмогенною кардіоміопатією · Долонно-підошовна кератодермія з аритмогенною кардіоміопатією |
| zh | Naxos病 | 掌跖角化过度伴心律失常性心肌病 |
| tr | Naxos hastalığı | KWWH türü I · Yünlü saç tipi I olan keratoderma · Aritmojenik kardiyomiyopatili keratoz palmoplantaris · Aritmojenik kardiyomiyopatili Palmoplantar keratoderma · Aritmojenik kardiyomiyopatili Palmoplantar hiperkeratoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601214 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | BC43.6 | NTBT | index | validated |
| MONDO | 0011017 | E | validated | |
| MeSH | C538346 | E | validated | |
| UMLS | C1832600 | E | validated | |
| GARD | 9795 | 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 (3):
- ORPHA:307804Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases - ORPHA:247Inherited arrhythmogenic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:434809Syndrome with woolly hair
rare genetic diseases; rare skin diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| JUP | Disease-causing germline mutation(s) in | Assessed | HGNC:6207 | ENSG00000173801 | 173325 | 17q21.2 | junction plakoglobin | 20301310[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 15210133[PMID]_34926342[PMID]_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.
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HPO phenotypes
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010719 | Abnormality of hair texture | |
| HP:0011675 | Arrhythmia | |
| HP:0001638 | Cardiomyopathy | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0004751 | Paroxysmal ventricular tachycardia | |
| HP:0002321 | Vertigo | |
| HP:0002224 | Woolly hair | |
| Frequent (79-30%) | ||
| HP:0000204 | Cleft upper lip | |
| HP:0001635 | Congestive heart failure | |
| HP:0002212 | Curly hair | |
| HP:0000975 | Hyperhidrosis | |
| HP:0002209 | Sparse scalp hair | |
| Occasional (29-5%) | ||
| HP:0000956 | Acanthosis nigricans | |
| HP:0001645 | Sudden cardiac death | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/34217
- This record as JSON: /data/d/34217.json