FH, fumarate hydratase, 2271

N. diseases: 231; N. variants: 143
Disease: Pediatric failure to thrive ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.010 GeneticVariation disease BEFREE Mutations in the FH gene cause the deficiency of the enzyme fumarase (fumarate hydratase, EC 4.2.1.2) which result in autosomal recessive fumaric aciduria in early childhood with failure to thrive, seizures, developmental delay, mental retardation, hypotonia and sometimes with polycythemia, leukopenia, and neutropenia. 23612258 2013