ZFIN Human Disease: combined malonic and methylmalonic acidemia

OBO ID: DOID:0111263

Term Name:	combined malonic and methylmalonic acidemia		Search Ontology:
Synonyms:	CMAMMA combined malonic and methylmalonic aciduria
Definition:	An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3. (2)
References:	GARD:10818 MESH:C580002 OMIM:614265 ORDO:289504 SNOMEDCT_US_2023_03_01:702365002 UMLS_CUI:C3280314
Ontology:	Human Disease ( DOID:0111263 )

Relationships

is a type of:	autosomal recessive disease organic acidemia autosomal recessive disease organic acidemia Show first 5 Terms

OTHER combined malonic and methylmalonic acidemia PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ACSF3	acsf3	Combined malonic and methylmalonic aciduria	614265

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None