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Summary
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 NBIA5 (WDR45)
BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION BPAN
300894
OMIM = Online Medalian Inheritance of Men
329284
Xp11.23
rare
X-linked dominant
mutation in the WDR45 gene
symptoms
behavior. aggressive
cerebellar atrophy or hypoplasia
cerebral atrophy
dementia
dystonia
encephalopathy
eye movements, abnormal
intellectual disability/intellectual developmental disorder (ID/ IDD)
lethargy, drowsiness, malaise or sleep disorder
onset, adolescent
onset, childhood
onset, infancy
Parkinsonism
psychomotor retardation
seizures
speech development, delayed, abnormal
tremor or twitching
laboratory finding
MRI, brain, abnormalities -
Neuron specific enolase (NSE) U/lserum
Literature
Chen YZ,et al.Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5Chin Med J (Engl)123223326-33332010
Byers HM,et al.Erratum to: Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb ContracturesJIMD Rep3001092016
Oishi K,Diaz GAThiamine-Responsive Megaloblastic Anemia SyndromeGeneReviews-« Internet002017
Uusimaa J,et al.Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial diseaseJ Med Genet4810660-6682011
Bianchi P,et al.Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B geneHum Mutat3031292-12982009
Uusimaa J,et al.Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial diseaseJ Med Genet4810660-6682011
Gaignard P,et al.Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New CasesJIMD Rep110117-1232013
Borowiec M,et al.Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunctionProc Natl Acad Sci U S A1033414460-52009
Lev D,et al.Reversible fulminant lactic acidosis and liver failure in an infant with hepatic cytochrome-c oxidase deficiencyJ Inherit Metab Dis255371-3772002
Zeharia A,et al.Acute infantile liver failure due to mutations in the TRMU geneAm J Hum Genet853401-4072009