Hemolytic anemia due to adenylate kinase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr: 86817
OMIM Id: 612631
ICD-10: D55.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 12 cases [Orphanet]
Inheritance: Autosomal recessive
10233365 [IBIS]
Age of onset:

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: Sort by abundance 

1
(HPO:0100543) Cognitive impairment 10233365 IBIS 230 / 7739
2
(HPO:0002463) Language impairment 10233365 IBIS 15 / 7739
3
(HPO:0001263) Global developmental delay 10233365 IBIS 853 / 7739
4
(HPO:0004870) Chronic hemolytic anemia 10233365 IBIS 6 / 7739
5
(HPO:0001878) Hemolytic anemia 83 / 7739
6
(OMIM) Red cell adenylate kinase deficiency 1 / 7739

Associated genes:

AK1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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 ...