ORPHA:79503
Ichthyosis hystrix of Curth-Macklin
Synonyms: Ichthyosis hystrix, Curth-Macklin type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Childhood
- Status
- active
Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ichthyosis hystrix of Curth-Macklin | Ichthyosis hystrix, Curth-Macklin type |
| fr | Ichtyose hystrix de Curth-Macklin | |
| de | Ichthyosis hystrix Curth-Macklin | Ichthyosis hystrix Typ Curth-Macklin |
| es | Ictiosis histrix de Curth-Macklin | Ictiosis histrix tipo Curth-Macklin |
| it | Ittiosi a istrice di Curth-Macklin | Ittiosi a istrice, tipo Curth-Macklin |
| nl | Ichthyosis hystrix van Curth-Macklin | Ichthyosis hystrix, Curth-Macklin-type |
| pt | Ictiose hystrix tipo Curth-Macklin | |
| pl | Rybia łuska jeżasta typu Curtha i Macklina | Rybia łuska jeżasta, typ Curtha i Macklina |
| cs | Ichthyosis hystrix Curthové-Macklinové | Ichthyosis hystrix, typ Curthové-Macklinové · Ichthyosis hystrix Curth-Macklinové · Ichthyosis hystrix, typ Curth-Macklinové |
| uk | Іхтіоз голчастий Курта-Макліна | Ichthyosis hystrix, тип Curth-Macklin |
| zh | Curth-Macklin型高起性鱼鳞病 | 鱼鳞病，Curth-Macklin型 |
| tr | Curth-Macklin iktiyoz histriksi | İktiyoz histriksi, Curth-Macklin tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 146590 | E | validated | |
| ICD-10 | Q80.8 | NTBT | attributed | validated |
| ICD-11 | EC20.03 | NTBT | index | validated |
| MONDO | 0007808 | E | validated | |
| MeSH | C536088 | E | validated | |
| UMLS | C1840296 | E | validated | |
| GARD | 2954 | 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 (1):
- ORPHA:281103Keratinopathic ichthyosis
rare genetic diseases; rare skin diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:79504Ichthyosis hystrix gravior moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KRT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6412 | ENSG00000167768 | 139350 | 12q13.13 | keratin 1 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 28405559[PMID]_26538731[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28405559[PMID]_26538731[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
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007447 | Diffuse palmoplantar kyperkeratosis | |
| HP:0000962 | Hyperkeratosis | |
| HP:0008064 | Ichthyosis | |
| HP:0001581 | Recurrent skin infections | |
| Frequent (79-30%) | ||
| HP:0001371 | Flexion contracture | |
| HP:0008404 | Nail dystrophy | |
| Occasional (29-5%) | ||
| HP:0007460 | Autoamputation of digits | |
| HP:0011889 | Bleeding with minor or no trauma | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79503
- This record as JSON: /data/d/79503.json