ORPHA:86817
Hemolytic anemia due to adenylate kinase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hemolytic anemia due to adenylate kinase deficiency | |
| fr | Anémie hémolytique par déficit en adénylate kinase | |
| de | Hämolytische Anämie durch Adenylat-Kinase-Mangel | |
| es | Anemia hemolítica por deficiencia de adenilato quinasa | |
| it | Anemia emolitica da deficit di adenilato chinasi | |
| nl | Hemolytische anemie door adenylaatkinasedeficiëntie | |
| pt | Anemia hemolítica por deficiência de adenilato cinase | |
| pl | Niedokrwistość hemolityczna z powodu niedoboru kinazy adenylanowej | |
| cs | Hemolytická anémie způsobená deficitem adenylátkinázy | |
| uk | Гемолітична анемія внаслідок дефіциту аденілаткінази | |
| zh | 腺苷酸激酶缺乏所致溶血性贫血 | |
| tr | Adenilat kinaz eksikliğine bağlı hemolitik anemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612631 | E | validated | |
| ICD-10 | D55.3 | NTBT | attributed | validated |
| ICD-11 | 3A10.Y | NTBT | index | validated |
| MONDO | 0012967 | E | validated | |
| MeSH | C567228 | E | validated | |
| UMLS | C2675459 | 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:98374Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
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 |
|---|---|---|---|---|---|---|---|---|
| AK1 | Disease-causing germline mutation(s) in | Assessed | HGNC:361 | ENSG00000106992 | 103000 | 9q34.11 | adenylate kinase 1 | 9432020[PMID]_10233365[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 families | Worldwide | Family(ies) | Validated | 10233365[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10233365[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.
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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/86817
- This record as JSON: /data/d/86817.json