ORPHA:352723
Attenuated Chédiak-Higashi syndrome
Synonyms: Atypical Chédiak-Higashi syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Attenuated Chédiak-Higashi syndrome | Atypical Chédiak-Higashi syndrome |
| fr | Syndrome de Chédiak-Higashi atténué | Syndrome de Chédiak-Higashi atypique |
| de | Chédiak-Higashi-Syndrom, attenuiertes | Chédiak-Higashi-Syndrom, atypisches |
| es | Síndrome de Chédiak-Higashi atenuado | Síndrome de Chédiak-Higashi atípico |
| it | Sindrome di Chédiak-Higashi attenuata | Sindrome di Chédiak-Higashi atipica |
| nl | Verzwakt syndroom van Chédiak-Higashi | Atypisch syndroom van Chédiak-Higashi |
| pt | Síndrome Chédiak-Higashi ligeiro | Síndrome Chédiak-Higashi atípico |
| pl | Atenuowany zespół Chédiaka i Higashiego | Atypowy zespół Chédiaka i Higashiego |
| cs | Atenuovaný Chédiakův-Higashiho syndrom | Atypický Chédiakův-Higashiho syndrom · Atenuovaný Chédiak-Higashiho syndrom · Atypický Chédiak-Higashiho syndrom |
| uk | Полегшений синдром Чедіака-Хігаші | Атиповий синдром Чедіака-Хігаші |
| zh | 轻型ChÚdiak-Higashi综合征 | 非典型ChÚdiak-Higashi综合征 |
| tr | Zayıflatılmış Chèdiak-Higashi sendromu | Atipik Chédiak-Higashi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E70.3 | NTBT | attributed | validated |
| MONDO | 0018133 | E | validated | |
| UMLS | C4304022 | 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:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:207015Rare hereditary disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LYST | Disease-causing germline mutation(s) in | Assessed | HGNC:1968 | ENSG00000143669 | 606897 | 1q42.3 | lysosomal trafficking regulator | 23521865[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet 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.
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HPO phenotypes
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001928 | Abnormality of coagulation | |
| HP:0000978 | Bruising susceptibility | |
| HP:0000421 | Epistaxis | |
| HP:0007513 | Generalized hypopigmentation | |
| HP:0000225 | Gingival bleeding | |
| HP:0002721 | Immunodeficiency | |
| HP:0001249 | Intellectual disability | |
| HP:0001107 | Ocular albinism | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0200042 | Skin ulcer | |
| Occasional (29-5%) | ||
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0100022 | Abnormality of movement | |
| HP:0001276 | Hypertonia | |
| HP:0002311 | Incoordination | |
Run the differential on the 11 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/352723
- This record as JSON: /data/d/352723.json