Griscelli syndrome type 2
Synonyms: Griscelli-Pruniéras syndrome type 2 · Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare subtype of Griscelli syndrome characterized by pigmentary dilution in skin and hair with irregular clumps of pigment in hair shafts resulting in silvery hair, in association with increased susceptibility to recurrent infections and immunological abnormalities, in particular impairment of T-cell and natural killer cytotoxic activity eventually leading to hemophagocytic lymphohistiocytosis. Patients may present neurological manifestations related to infiltration of the central nervous system in the context of the hemophagocytic syndrome. The disease is mostly fatal in the first decade of life.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Griscelli syndrome type 2 | Griscelli-Pruniéras syndrome type 2 · Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome |
| fr | Syndrome de Griscelli type 2 | Syndrome d'hypopigmentation-troubles immunologiques, avec ou sans troubles neurologiques · Syndrome de Griscelli-Pruniéras type 2 |
| de | Griscelli-Syndrom Typ 2 | Griscelli-Pruniéras-Syndrom Typ 2 · Hypopigmentation - Immundefekt mit oder ohne Neurologische Schädigung |
| es | Síndrome de Griscelli tipo 2 | Síndrome de Griscelli-Pruniéras tipo 2 · Síndrome de hipopigmentación-inmunodeficiencia con o sin deterioro neurológico |
| it | Malattia di Griscelli, tipo 2 | Ipopigmentazione - immunodeficienza con o senza danno neurologico · Sindrome di Griscelli-Pruniéras, tipo 2 |
| nl | Syndroom van Griscelli type 2 | Hypopigmentatie - immuundeficiëntie met of zonder neurologische aftakeling-syndroom · Syndroom van Griscelli-Pruniéras type 2 |
| pt | Síndrome de Griscelli tipo 2 (hipopigmentação - imunodeficiência com ou sem défice neurológico) | |
| pl | Choroba Griscelliego typu 2 | Hipopigmentacja - Niedobór odporności z lub bez upośledzenia neurologicznego · Zespół Griscelliego i Pruniérasa typu 2 |
| cs | Griscelliho nemoc, typ 2 | Syndrom zahrnující hypopigmentaci a imunodeficit s nebo bez neurologického postižení · Griscelliho-Pruniérasův syndrom, typ 2 · Griscelli-Pruniérasův syndrom, typ 2 |
| uk | Синдром Гріселлі, тип 2 | Синдром Гріселлі-Пруньєраса, тип 2 · Гіпопігментація-імунодефіцит з синдромом неврологічних порушень або без нього |
| zh | 格里塞利综合征2型 | 色素减退-免疫缺陷伴或不伴神经损伤综合征 |
| tr | Griscelli sendromu tip 2 | Griscelli-Pruniéras sendromu tip 2 · Nörolojik bozukluk sendromu olan veya olmayan hipopigmentasyon-immün yetmezlik |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607624 | E | validated | |
| ICD-10 | E70.3 | NTBT | attributed | validated |
| ICD-11 | 4A01.23 | NTBT | index | validated |
| MONDO | 0011872 | E | validated | |
| MeSH | C537302 | E | validated | |
| UMLS | C1868679 | E | validated | |
| GARD | 4483 | 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 (4):
- ORPHA:183494Genetic immune deficiency with skin involvement
rare genetic diseases - ORPHA:381Griscelli syndrome
rare genetic diseases; rare neurological diseases; rare skin diseases; rare ophthalmic disorders - ORPHA:79391Immune deficiency with skin involvement
rare skin diseases - ORPHA:331249Primary hemophagocytic lymphohistiocytosis with hypopigmentation
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 |
|---|---|---|---|---|---|---|---|---|
| RAB27A | Disease-causing germline mutation(s) in | Assessed | HGNC:9766 | ENSG00000069974 | 603868 | 15q21.3 | RAB27A, member RAS oncogene family |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 102 cases | Worldwide | Case(s) | Validated | 26960655[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26960655[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.
HPO phenotypes
19 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012156 | Hemophagocytosis | |
| HP:0002240 | Hepatomegaly | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0002721 | Immunodeficiency | |
| HP:0001876 | Pancytopenia | |
| HP:0007443 | Partial albinism | |
| HP:0002216 | Premature graying of hair | |
| HP:0001744 | Splenomegaly | |
| Frequent (79-30%) | ||
| HP:0001875 | Decreased total neutrophil count | |
| HP:0003077 | Hyperlipidemia | |
| HP:0000952 | Jaundice | |
| HP:0002716 | Lymphadenopathy | |
| Occasional (29-5%) | ||
| HP:0001945 | Fever | |
| HP:0001276 | Hypertonia | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0002017 | Nausea and vomiting | |
| HP:0000967 | Petechiae | |
| HP:0002113 | Pulmonary infiltrates | |
| HP:0001250 | Seizure | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 25315806[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79477
- This record as JSON: /data/d/79477.json