Microcephaly, amish type

Preferred Label : Microcephaly, amish type;

Symbol : MCPHA;

CISMeF acronym : MCPHA; THMD3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thiamine metabolism dysfunction syndrome 3 (microcephaly type); Amish lethal microcephaly; THMD3;

Description : Amish type microcephaly is a severe autosomal recessive metabolic disorder characterized by severe microcephaly apparent at birth, profoundly delayed psychomotor development, brain malformations, and episodic encephalopathy associated with lactic acidosis and alpha-ketoglutaric aciduria (summary by Kelley et al., 2002). For a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 (249270).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 25, member 19 gene (mitochondrial thiamine pyrophosphate carrier) (SLC25A19, 606521.0001);

Laboratory abnormalities : Increased urinary 2-ketoglutarate (variable); Increased urinary lactate;

Prefixed ID : #607196;

Details

Origin ID

607196;

UMLS CUI

C1846648;

Automatic exact mappings (from CISMeF team)
- Microcephaly, Amish type [ICD-11 More detail]
- symbol withdrawn MCPHA [HGNC gene]
CISMeF manual mappings
- Amish lethal microcephaly (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Amish lethal microcephaly [MeSH concept]
- Amish lethal microcephaly [ORDO Disease]
- amish lethal microcephaly [MeSH Supplementary Concept]
Genes related to phenotype
- Solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Congenital onset [HPO term]
- Flexion contracture [HPO term]
- Hepatomegaly [HPO term]
- Irritability [HPO term]
- Lactic acidosis [HPO term]
- Limb hypertonia [HPO term]
- Micrognathia [HPO term]
- Partial agenesis of the corpus callosum [HPO term]
- Progressive microcephaly [HPO term]
ORDO concept(s)
- Amish lethal microcephaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amish lethal microcephaly [MeSH concept]
- Amish lethal microcephaly [ORDO Disease]
- Amish lethal microcephaly (disorder) [SNOMED CT concept]
- amish lethal microcephaly [MeSH Supplementary Concept]

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