Hypermethioninemia due to adenosine kinase deficiency

Preferred Label : Hypermethioninemia due to adenosine kinase deficiency;

CISMeF acronym : MRT8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRT8; Mental retardation, autosomal recessive 8;

Description : Hypermethioninemia due to adenosine kinase deficiency is an autosomal recessive inborn error of metabolism characterized by global developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia with increased levels of S-adenosylmethionine (AdoMet) and S-adenosylhomocysteine (AdoHcy); homocysteine is typically normal (summary by Bjursell et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the adenosine kinase gene (ADK, 102750.0001);

Laboratory abnormalities : Abnormal liver enzymes; Hyperbilirubinemia; Hypermethioninemia; Increased serum S-adenosylhomocysteine; Increased serum S-adenosylmethionine; Normal serum homocysteine; Increased urinary adenosine;

Prefixed ID : #614300;

Details

Origin ID

614300;

UMLS CUI

C4706555;

Automatic exact mappings (from CISMeF team)
- mental retardation, autosomal recessive 8 [MeSH Supplementary Concept]
- mental retardation, autosomal recessive 8 [MeSH concept]
Currated CISMeF NLP mapping
- Hypermethioninemia encephalopathy due to adenosine kinase deficiency [ORDO Disease]
- Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder) [SNOMED CT concept]
- hypermethioninemia due to adenosine kinase deficiency [DO Concept]
DO Cross reference
- hypermethioninemia due to adenosine kinase deficiency [DO Concept]
Genes related to phenotype
- Adenosine kinase [OMIM gene]
HPO term(s)
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Cholestasis [HPO term]
- Coarctation of aorta [HPO term]
- Decreased liver function [HPO term]
- Delayed speech and language development [HPO term]
- Elevated hepatic transaminase [HPO term]
- Failure to thrive [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatic steatosis [HPO term]
- Hyperbilirubinemia [HPO term]
- Hypermethioninemia [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Macrocephaly [HPO term]
- Narrow foot [HPO term]
- Poor speech [HPO term]
- Portal fibrosis [HPO term]
- Progressive [HPO term]
- Pulmonic stenosis [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Severe global developmental delay [HPO term]
- Skeletal muscle atrophy [HPO term]
ORDO concept(s)
- Hypermethioninemia encephalopathy due to adenosine kinase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypermethioninemia encephalopathy due to adenosine kinase deficiency [ORDO Disease]
- Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder) [SNOMED CT concept]
- hypermethioninemia due to adenosine kinase deficiency [DO Concept]

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