Fumarase Deficiency

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OMIM 57 606812 Orphanet 59 ORPHA24 MESH via Orphanet 45 C538191 ICD10 via Orphanet 34 E88.8 UMLS via Orphanet 74 C0342770 C2936826

MedGen 42 C0342770 C2936826 MeSH 44 D008661 D009123 D011596 KEGG 37 H02004 SNOMED-CT via HPO 69 258211005 27272007 271611007 194021007 22006008 708670007 246635007 397540003 7973008 76976005 398979000 398151007 398152000 224958001 5102002 197446008 30144000 33688009 59927004 36440009 432788009 109992005 127062003 59455009 90145001 278849000 418143002 52522001 4945003 230456007 31216003 230790004 190882007 91273001 35912001 248316006 3961000119101 254767008 more UMLS 73 C0342770 C2936826

Genetics Home Reference : ²⁵ Fumarase deficiency is a condition that primarily affects the nervous system, especially the brain. Affected infants may have an abnormally small head size (microcephaly), abnormal brain structure, severe developmental delay, weak muscle tone (hypotonia), and failure to gain weight and grow at the expected rate (failure to thrive). They may also experience seizures. Some people with this disorder have unusual facial features, including a prominent forehead (frontal bossing), low-set ears, a small jaw (micrognathia), widely spaced eyes (ocular hypertelorism), and a depressed nasal bridge. An enlarged liver and spleen (hepatosplenomegaly) may also be associated with this disorder, as well as an excess of red blood cells (polycythemia) or deficiency of white blood cells (leukopenia) in infancy. Affected individuals usually survive only a few months, but a few have lived into early adulthood.

MalaCards based summary : Fumarase Deficiency, also known as fumaric aciduria, is related to fumarate hydratase deficiency and encephalopathy, and has symptoms including seizures An important gene associated with Fumarase Deficiency is FH (Fumarate Hydratase), and among its related pathways/superpathways is Citrate cycle (TCA cycle). Affiliated tissues include brain, liver and eye, and related phenotypes are hypertelorism and agenesis of corpus callosum

NIH Rare Diseases : ⁵³ Fumarase deficiency is an inherited condition that affects the brain and other parts of the nervous system. Signs and symptoms may include a small head (microcephaly), severe developmental delay, poor feeding, weak muscle tone (hypotonia), failure to thrive, seizures, and distinctive facial features. Most people with this deficiency are not able to speak or walk. A variety of brain abnormalities may be detected on MRI. Fumarase deficiency is caused by mutations in the FH gene and inheritance is autosomal recessive. Unfortunately, there is no effective treatment at this time. Management aims to improve symptoms and increase quality of life. Many children with fumarase deficiency do not survive past early childhood, but some are less severely affected, have mild cognitive impairment, and survive beyond this time.

OMIM : ⁵⁷ Fumarase deficiency is a severe autosomal recessive metabolic disorder characterized by early-onset hypotonia, profound psychomotor retardation, and brain abnormalities, such as agenesis of the corpus callosum, gyral defects, and ventriculomegaly. Many patients show neonatal distress, metabolic acidosis, and/or encephalopathy (summary by Kerrigan et al., 2000 and Mroch et al., 2012). (606812)

UniProtKB/Swiss-Prot : ⁷⁵ Fumarase deficiency: A severe autosomal recessive metabolic disorder characterized by early-onset hypotonia, profound psychomotor retardation, and brain abnormalities, such as agenesis of the corpus callosum, gyral defects, and ventriculomegaly. Many patients show neonatal distress, metabolic acidosis, and/or encephalopathy.

Wikipedia : ⁷⁶ Fumarase deficiency (or fumaric aciduria) is an exceedingly rare autosomal recessive metabolic disorder... more...

Clinical features from OMIM:

606812

Search Clinical Trials , NIH Clinical Center for Fumarase Deficiency

Search GEO for disease gene expression data for Fumarase Deficiency.