KEGG   DISEASE: Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
Entry
H02966                      Disease                                
Name
Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
Description
Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism (CDIDHH) is a novel recessive syndrome associated with PRDM13 mutation. Patients exhibit intellectual disability, ataxia with cerebellar hypoplasia, scoliosis, and delayed puberty with congenital hypogonadotropic hypogonadism. PRDM13 belongs to the PRDM family of transcriptional regulators, and functions as an essential GABAergic cell-fate determinant in the spinal cord and the retina.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD20  Syndromes with central nervous system anomalies as a major feature
    H02966  Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
Gene
PRDM13 [HSA:59336] [KO:K24645]
Other DBs
ICD-11: LD20.Y
OMIM: 619761
Reference
PMID:34730112
  Authors
Whittaker DE, Oleari R, Gregory LC, Le Quesne-Stabej P, Williams HJ, Torpiano JG, Formosa N, Cachia MJ, Field D, Lettieri A, Ocaka LA, Paganoni AJ, Rajabali SH, Riegman KL, De Martini LB, Chaya T, Robinson IC, Furukawa T, Cariboni A, Basson MA, Dattani MT
  Title
A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia.
  Journal
J Clin Invest 131:141587 (2021)
DOI:10.1172/JCI141587
LinkDB

» Japanese version

DBGET integrated database retrieval system