ORPHA:714
Hemolytic anemia due to diphosphoglycerate mutase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hemolytic anemia due to diphosphoglycerate mutase deficiency | |
| fr | Anémie hémolytique par déficit en phosphoglycéromutase | |
| de | Hämolytische Anämie durch Diphosphoglycerat-Mutase-Mangel | |
| es | Anemia hemolítica por deficiencia de difosfoglicerato mutasa | |
| it | Anemia emolitica da deficit di difosfoglicerato mutasi | |
| nl | Hemolytische anemie door deficiëntie van difosfoglyceraatmutase | |
| pt | Anemia hemolítica por deficiência de difosfosglicerato mutase | |
| pl | Niedokrwistość hemolityczna z powodu niedoboru mutazy difosfoglicerynowej | |
| cs | Hemolytická anémie způsobená deficitem difosfoglycerátmutázy | |
| uk | Гемолітична анемія внаслідок дефіциту дифосфогліцератмутази | |
| zh | 2，3二磷酸甘油酸变位酶缺乏所致溶血性贫血 | |
| tr | Difosfogliserat mutaz eksikliğine bağlı hemolitik anemi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 222800 | E | validated | |
| ICD-10 | D55.2 | NTBT | attributed | validated |
| ICD-11 | 3A10.Y | NTBT | index | validated |
| MONDO | 0009113 | E | validated | |
| UMLS | C0272069 | E | validated | |
| GARD | 1874 | 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:98372Hemolytic anemia due to a disorder of glycolytic enzymes
rare genetic diseases; rare hematological diseases - ORPHA:91088Other metabolic disease
rare inborn errors of metabolism; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BPGM | Disease-causing germline mutation(s) in | Assessed | HGNC:1093 | ENSG00000172331 | 613896 | 7q33 | bisphosphoglycerate mutase | 15054810[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/714
- This record as JSON: /data/d/714.json