ORPHA:79476
Griscelli syndrome type 1
Synonyms: Griscelli-Pruniéras syndrome type 1 · Hypopigmentation-neurologic impairment syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
This disease is described under Griscelli syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Griscelli syndrome type 1 | Griscelli-Pruniéras syndrome type 1 · Hypopigmentation-neurologic impairment syndrome |
| fr | Syndrome de Griscelli type 1 | Syndrome d'hypopigmentation-troubles neurologiques · Syndrome de Griscelli-Pruniéras type 1 |
| de | Griscelli-Syndrom Typ 1 | Griscelli-Pruniéras-Syndrom Typ 1 · Hypopigmentation - Neurologische Schädigung |
| es | Síndrome de Griscelli tipo 1 | Síndrome de Griscelli-Pruniéras tipo 1 · Síndrome de hipopigmentación-deterioro neurológico |
| it | Malattia di Griscelli, tipo 1 | Ipopigmentazione - danno neurologico · Sindrome di Griscelli-Pruniéras, tipo 1 |
| nl | Syndroom van Griscelli type 1 | Hypopigmentatie - neurologische aftakeling-syndroom · Syndroom van Griscelli-Pruniéras type 1 |
| pt | Síndrome de Griscelli tipo 1 (hipopigmentação - défice neurológico) | |
| pl | Choroba Griscelliego typu 1 | Hipopigmentacja - upośledzenie neurologiczne · Zespół Griscelliego i Pruniérasa typu 1 |
| cs | Griscelliho nemoc, typ 1 | Syndrom zahrnující hypopigmentaci a neurologické postižení · Griscelliho-Pruniérasův syndrom, typ 1 · Griscelli-Pruniérasův syndrom, typ 1 |
| uk | Синдром Гріселлі, тип 1 | Синдром Гріселлі-Пруньєраса, тип 1 · Синдром гіпопігментації з неврологічними порушеннями |
| zh | 格里塞利综合征1型 | 色素减退-神经损伤综合征 |
| tr | Griscelli sendromu tip 1 | Griscelli-Pruniéras sendromu tip 1 · Hipopigmentasyon-nörolojik bozukluk sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 214450 | E | validated | |
| ICD-10 | E70.3 | NTBT | attributed | validated |
| ICD-11 | EC23.2Y | NTBT | index | validated |
| MONDO | 0008962 | E | validated | |
| MeSH | C537301 | E | validated | |
| UMLS | C1859194 | E | validated | |
| GARD | 2566 | 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 (2):
- ORPHA:102005Brain inflammatory disease
rare neurological diseases - ORPHA:381Griscelli syndrome
rare genetic diseases; rare neurological diseases; rare skin diseases; rare ophthalmic disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYO5A | Disease-causing germline mutation(s) in | Assessed | HGNC:7602 | ENSG00000197535 | 160777 | 15q21.2 | myosin VA |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 22711375[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22711375[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.
6
HPO phenotypes
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0001251 | Ataxia | |
| HP:0000651 | Diplopia | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001276 | Hypertonia | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0000639 | Nystagmus | |
| HP:0007443 | Partial albinism | |
| HP:0002216 | Premature graying of hair | |
| HP:0000488 | Retinopathy | |
| HP:0001250 | Seizure | |
| HP:0011364 | White hair | |
| Frequent (79-30%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0003077 | Hyperlipidemia | |
| HP:0001249 | Intellectual disability | |
| Occasional (29-5%) | ||
| HP:0002514 | Cerebral calcification | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 22711375[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79476
- This record as JSON: /data/d/79476.json