Bleeding disorder due to CalDAG-GEFI deficiency
Synonyms: Bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bleeding disorder due to CalDAG-GEFI deficiency | Bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency |
| fr | Troubles hémorragiques par déficit en CalDAG-GEFI | Troubles hémorragiques par déficit en calcium- and DAG-regulated guanine exchange factor-1 |
| de | Blutungskrankheit durch CalDAG-GEFI-Mangel | Blutungskrankheit durch Kalzium- und DAG-regulierten Guanin-Nukleotid-Austausch-Faktor 1- Mangel |
| es | Trastorno de sangrado por deficiencia de CalDAG-GEFI | Trastorno de sangrado por deficiencia del factor 1 de intercambio de guanina regulada por DAG y calcio |
| it | Disturbo emorragico da deficit di CalDAG-GEFI | Disturbo emorragico da deficit del fattore 1 di scambio dei nucleotidi guaninici regolato da calcio e DAG |
| nl | Bloedingsstoornis door CalDAG-GEFI-deficiëntie | Bloedingsstoornis door calcium- en DAG-gereguleerde guanine-exchange-factor 1-deficiëntie |
| pt | Doença hemorrágica por deficiência de CalDAG-GEFI | Doença hemorrágica por deficiência de fator 1 de troca de guanina regulada por DAG e cálcio |
| pl | Skaza krwotoczna z powodu niedoboru CalDAG-GEFI | Skaza krwotoczna z powodu niedoboru czynnika wymiany nukleotydów guaninowych-1 regulowanego wapniem i DAG |
| cs | Krvácivá porucha způsobená deficitem CalDAG-GEFI | Krvácivá porucha způsobená deficitem vápníkového a DAG-regulovaným guaninem výměnného faktoru 1 |
| uk | Порушення згортання крові, зумовлене дефіцитом CalDAG-GEFI | Порушення кровотечі внаслідок дефіциту гуанінового обмінного фактора-1, регульованого кальцієм та DAG |
| zh | CalDAG-GEFI缺陷导致的出血障碍 | 钙和DAG调节的鸟嘌呤交换因子1缺乏引起的出血性疾病 |
| tr | CalDAG-GEFI eksikliğine bağlı kanama bozukluğu | Kalsiyum ve DAG ile düzenlenen guanin değişim faktör-1 eksikliğine bağlı kanama bozukluğu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615888 | E | validated | |
| ICD-10 | D69.1 | NTBT | attributed | validated |
| ICD-11 | 3B62.Y | NTBT | attributed | validated |
| MONDO | 0014386 | E | validated | |
| UMLS | C4510815 | 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 (1):
- ORPHA:275736Rare hemorrhagic disorder due to a qualitative platelet defect
rare genetic diseases; rare hematological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RASGRP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9879 | ENSG00000068831 | 605577 | 11q13.1 | RAS guanyl releasing protein 2 | 24958846[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 24958846[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24958846[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/420566
- This record as JSON: /data/d/420566.json