Poikiloderma with neutropenia
Synonyms: Poikiloderma with neutropenia, Clericuzio type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Poikiloderma with neutropenia | Poikiloderma with neutropenia, Clericuzio type |
| fr | Poïkilodermie avec neutropénie | Poïkilodermie avec neutropénie type Clericuzio |
| de | Poikilodermie mit Neutropenie | Poikilodermie mit Neutropenie vom Typ Clericuzio |
| es | Poiquilodermia con neutropenia | Poiquilodermia con neutropenia tipo Clericuzio |
| it | Poichilodermia associata a neutropenia | Poichilodermia associata a neutropenia, tipo Clericuzio |
| nl | Poikilodermie met neutropenie | Poikilodermie met neutropenie, Clericuzio-type |
| pt | Poiquilodermia com neutropenia | |
| pl | Poikilodermia z neutropenią | Poikilodermia z neutropenią, typ Clericuzio |
| cs | Poikilodermie s neutropenií | Poikilodermie s neutropenií, typ Clericuziové |
| uk | Пойкилодермія з нейтропенією | Пойкилодермія з нейтропенією, тип Clericuzio |
| zh | 皮肤异色症伴中性粒细胞减少 | Clericuzio型皮肤异色症伴中性粒细胞减少 |
| tr | Nötropeni ile seyreden poikiloderma | Nötropenili Poikiloderma, Clericuzio tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604173 | E | validated | |
| ICD-10 | D82.8 | NTBT | attributed | validated |
| ICD-11 | EC10 | NTBT | index | validated |
| MONDO | 0011405 | E | validated | |
| MeSH | C565820 | E | validated | |
| UMLS | C1858723 | E | validated | |
| GARD | 4085 | 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 (2):
- ORPHA:222628Hereditary poikiloderma
rare genetic diseases; rare skin diseases - ORPHA:331184Syndrome with congenital neutropenia as a major feature
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| USB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:25792 | ENSG00000103005 | 613276 | 16q21 | U6 snRNA biogenesis phosphodiesterase 1 | 20004881[PMID]_20503306[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | 18925663[PMID]_20004881[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/221046
- This record as JSON: /data/d/221046.json