ORPHA:90031
Non-spherocytic hemolytic anemia due to hexokinase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Nonspherocytic haemolytic anaemia due to hexokinase deficiency is characterised by severe hemolysis, appearing in infancy. Seventeen affected families have been reported so far. Transmission is autosomal recessive. Mutations have been described in <i>HK1</i>, the gene that encodes red blood cell-specific hexokinase-R.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-spherocytic hemolytic anemia due to hexokinase deficiency | |
| fr | Anémie hémolytique non sphérocytique par déficit en hexokinase | |
| de | Anämie, hämolytische, nicht-sphärozytäre durch Hexokinase-Mangel | |
| es | Anemia hemolítica no esferocítica por deficiencia de hexoquinasa | |
| it | Anemia emolitica non sferocitica da deficit di esochinasi | |
| nl | Niet-sferocytische hemolytische anemie door deficiëntie van hexokinase | |
| pt | Anemia hemolítica não-esferocítica por deficiência de hexocinase | |
| pl | Niedokrwistość hemolityczna niesferocytowa z powodu niedoboru heksokinazy | |
| cs | Nesferocytární hemolytická anémie způsobená deficitem hexokinázy | |
| uk | Несфероцитарна гемолітична анемія внаслідок дефіциту гексокінази | |
| zh | 己糖激酶缺乏型所致非球形细胞溶血性贫血症 | |
| tr | Hekzokinaz eksikliğine bağlı sferositik olmayan hemolitik anemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 235700 | E | validated | |
| ICD-10 | D55.2 | NTBT | inclusion | validated |
| ICD-11 | 3A10.Y | NTBT | index | validated |
| MONDO | 0009340 | E | validated | |
| UMLS | C0472792 | E | validated | |
| GARD | 3672 | 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 (1):
- ORPHA:98372Hemolytic anemia due to a disorder of glycolytic enzymes
rare genetic diseases; rare hematological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HK1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4922 | ENSG00000156515 | 142600 | 10q22.1 | hexokinase 1 | 12393545[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 families | Worldwide | Family(ies) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | 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.
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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/90031
- This record as JSON: /data/d/90031.json