Fumarase Deficiency (FMRD)

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Disease Ontology 12 DOID:0111261 OMIM® 57 606812 KEGG 36 H02004 MeSH 44 C538191 D008661 D009123 D011596 more SNOMED-CT 67 237983002 MESH via Orphanet 45 C538191

ICD10 via Orphanet 33 E88.8 UMLS via Orphanet 71 C0342770 C2936826 Orphanet 58 ORPHA24 MedGen 41 C0342770 C2936826 SNOMED-CT via HPO 68 109992005 127062003 190882007 194021007 197446008 22006008 224958001 230456007 230790004 246635007 248316006 254767008 258211005 26165005 271611007 27272007 278849000 30144000 31216003 33688009 35912001 36440009 3961000119101 397540003 398151007 398152000 398979000 418143002 432788009 4945003 5102002 52522001 59455009 59927004 708670007 76976005 7973008 90145001 91273001 more UMLS 70 C0342770 C2936826

MedlinePlus Genetics : ⁴³ 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 organic acidemia and fumarate hydratase deficiency, and has symptoms including seizures An important gene associated with Fumarase Deficiency is FH (Fumarate Hydratase), and among its related pathways/superpathways are Citrate cycle (TCA cycle) and Metabolism. The drug Axitinib has been mentioned in the context of this disorder. Affiliated tissues include skin, spleen and liver, and related phenotypes are agenesis of corpus callosum and failure to thrive

Disease Ontology : ¹² An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has material basis in homozygous or compound heterozygous mutation in FH on 1q43.

GARD : ²⁰ 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) (Updated 05-Apr-2021)

KEGG : ³⁶ Fumarase deficiency (fumaric aciduria) is a rare autosomal recessive metabolic disorder caused by deficient activity of fumarate hydratase (FH, fumarase), one of the constituent enzymes of the Krebs tricarboxylic acid cycle. Patients usually present early in infancy with a severe encephalopathy, including hypotonia, developmental retardation, and seizures. Many of them have died during the first several years of life.

UniProtKB/Swiss-Prot : ⁷² 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 : ⁷³ Fumarase deficiency (or fumaric aciduria) is an exceedingly rare autosomal recessive metabolic disorder... more...

Clinical features from OMIM®:

606812 (Updated 05-Apr-2021)

Search NIH Clinical Center for Fumarase Deficiency

Search GEO for disease gene expression data for Fumarase Deficiency.