Methylmalonate semialdehyde dehydrogenase deficiency

Preferred Label : Methylmalonate semialdehyde dehydrogenase deficiency;

Symbol : MMSDHD;

CISMeF acronym : MMSDHD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mmsdh deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the aldehyde dehydrogenase 6 family, member A1 gene (ALDH6A1, 603178.0001);

Laboratory abnormalities : Increased urinary beta-alanine; Increased urinary 3-aminoisobutyric acid; Increased urinary 3-hydroxyisobutyric acid; Increased lactate (in some patients); Increased urinary 3-hydroxypropionate (in some patients); Increased urinary methylmalonic acid (in some patients);

Prefixed ID : #614105;

Details

Origin ID

614105;

UMLS CUI

C3279840;

Currated CISMeF NLP mapping
- Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency [ORDO Disease]
- Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Methylmalonate semialdehyde dehydrogenase deficiency [ICD-11 More detail]
- methylmalonate semialdehyde dehydrogenase deficiency [MeSH concept]
- methylmalonate semialdehyde dehydrogenase deficiency [MeSH Supplementary Concept]
Genes related to phenotype
- Aldehyde dehydrogenase 6 family, member a1 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bulbous nose [HPO term]
- Cataract [HPO term]
- Delayed myelination [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dystonia [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Long philtrum [HPO term]
- Metabolic acidosis [HPO term]
- Microcephaly [HPO term]
- Microphthalmia [HPO term]
- Short nose [HPO term]
- Tented upper lip vermilion [HPO term]
ORDO concept(s)
- Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency [ORDO Disease]
- Methylmalonate semialdehyde dehydrogenase deficiency [ICD-11 More detail]
- methylmalonate semialdehyde dehydrogenase deficiency [MeSH Supplementary Concept]
- methylmalonate semialdehyde dehydrogenase deficiency [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients