Hemolytic anemia due to adenylate kinase deficiency
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 6 |
OrphanetNr: | 86817 |
OMIM Id: |
612631
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ICD-10: |
D55.3 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | 12 cases [Orphanet] |
Inheritance: |
Autosomal recessive 10233365 [IBIS] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: |
AARSKOG SYNDROME, AUTOSOMAL DOMINANT
-AARSKOG SYNDROME, AUTOSOMAL DOMINANT Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder -Rare genetic disease -Rare hematologic disease |
Symptom Information:
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(HPO:0100543) | Cognitive impairment | 10233365 | IBIS | 230 / 7739 | ||
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(HPO:0002463) | Language impairment | 10233365 | IBIS | 15 / 7739 | ||
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(HPO:0001263) | Global developmental delay | 10233365 | IBIS | 853 / 7739 | ||
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(HPO:0004870) | Chronic hemolytic anemia | 10233365 | IBIS | 6 / 7739 | ||
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(HPO:0001878) | Hemolytic anemia | 83 / 7739 | ||||
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(OMIM) | Red cell adenylate kinase deficiency | 1 / 7739 |
Associated genes:
AK1; |
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Clinical Description OMIM |
In 2 offspring of second-cousin Arab parents, Szeinberg et al. (1969) found marked AK deficiency with intermediate levels in the presumed heterozygotes. Severe anemia was present in both. In the study of a black family, Beutler et ... |
Molecular genetics OMIM |
In a patient with hemolytic anemia, Matsuura et al. (1989) demonstrated a mutation in exon 6 of the AK1 gene, which resulted in an arg128-to-trp substitution (103000.0001). In an Italian child with hemolytic anemia and undetectable erythrocyte ... |