ORPHA:85112
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
Synonyms: Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome | Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome |
| fr | Syndrome de kératodermie palmoplantaire-ambiguïté sexuelle XX-prédisposition au carcinome spinocellulaire | Syndrome d'hyperkératose palmoplantaire-ambiguïté sexuelle XX-prédisposition au carcinome spinocellulaire |
| de | Palmoplantarkeratose-XX-Geschlechtsumkehr-Prädisposition für Plattenepithelkarzinom-Syndrom | |
| es | Síndrome de queratodermia palmoplantar-reversión sexual XX-predisposición a carcinoma de células escamosas | Hiperqueratosis palmoplantar-cambio de sexo XX-predisposición a carcinoma de células escamosas |
| it | Cheratoderma palmoplantare - inversione sessuale XX - predisposizione al carcinoma a cellule squamose | Ipercheratosi palmoplantare - inversione sessuale XX - predisposizione al carcinoma a cellule squamose |
| nl | Palmoplantaire keratodermie - XX-geslachtsomkering - predispositie voor plaveiselcelcarcinoom-syndroom | Palmoplantaire hyperkeratose - XX-geslachtsomkering - predispositie voor plaveiselcelcarcinoom-syndroom |
| pt | Síndrome de queratodermia palmoplantar-reversão sexual XX-predisposição a carcinoma de células escamosas | |
| pl | Rogowiec dłoni i stóp - odwrócenie płci XX - predyspozycja do raka kolczystokomórkowego | Hiperkeratoza dłoni i stóp - odwrócenie płci XX - predyspozycja do raka kolczystokomórkowego |
| cs | Syndrom zahrnující palmoplantární keratoderma, XX reverzi pohlaví a predispozici ke spinocelulárnímu karcinomu | Syndrom zahrnující palmoplantární hyperkeratózu, XX reverzi pohlaví a predispozici ke spinocelulárnímu karcinomu |
| uk | Синдром долонно-підошовної кератодермії-XX зміни статі-схильності до плоскоклітинного раку | Синдром долонно-підошовного гіперкератозу - ХХ зміни статі - схильності до плоскоклітинного раку |
| zh | 掌跖角化病-XX性别逆转-鳞状细胞癌易感综合征 | 掌跖角化过度-XX性别逆转-鳞状细胞癌易感综合征 |
| tr | Palmoplantar keratoderma-XX cinsiyet değiştirme-skuamöz hücreli karsinom sendromuna yatkınlık | Palmoplantar hiperkeratoz-XX cinsiyet tersine çevrilmesi-skuamöz hücreli karsinom sendromuna yatkınlık |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610644 | E | validated | |
| ICD-10 | Q56.0 | NTBT | attributed | validated |
| MONDO | 0012530 | E | validated | |
| UMLS | C4302748 | 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 (3):
- ORPHA:307804Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases - ORPHA:325109Syndrome with 46,XX difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases - ORPHA:325638Syndrome with difference of sex development of gynecological interest
rare genetic diseases; rare gynecological and obstetric diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RSPO1 | Disease-causing germline mutation(s) in | Assessed | HGNC:21679 | ENSG00000169218 | 609595 | 1p34.3 | R-spondin 1 | 17041600[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 16227098[PMID]_10733237[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16227098[PMID]_10733237[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
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0012245 | Sex reversal | |
| HP:0006739 | Squamous cell carcinoma of the skin | |
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/85112
- This record as JSON: /data/d/85112.json