KEGG   DISEASE: Genitourinary and/or brain malformation syndrome
Entry
H02523                      Disease                                
Name
Genitourinary and/or brain malformation syndrome
Description
Genitourinary and/or brain malformation syndrome (GUBS) is caused by mutations in PPP1R12A. The brain abnormalities are variable. PPP1R12A encodes a component of myosin phosphatase, a key enzyme instrumental in the regulation of cell morphology and motility.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2Y  Other specified multiple developmental anomalies or syndromes
    H02523  Genitourinary and/or brain malformation syndrome
Pathway
hsa04510  Focal adhesion
hsa04270  Vascular smooth muscle contraction
hsa04921  Oxytocin signaling pathway
Gene
PPP1R12A [HSA:4659] [KO:K06270]
Other DBs
ICD-11: LD2Y
OMIM: 618820
Reference
PMID:34499436
  Authors
Alkhunaizi E, Chitayat D
  Title
PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome
  Journal
GeneReviews (1993)
Reference
PMID:31883643
  Authors
Hughes JJ, Alkhunaizi E, Kruszka P, Pyle LC, Grange DK, Berger SI, Payne KK, Masser-Frye D, Hu T, Christie MR, Clegg NJ, Everson JL, Martinez AF, Walsh LE, Bedoukian E, Jones MC, Harris CJ, Riedhammer KM, Choukair D, Fechner PY, Rutter MM, Hufnagel SB, Roifman M, Kletter GB, Delot E, Vilain E, Lipinski RJ, Vezina CM, Muenke M, Chitayat D
  Title
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.
  Journal
Am J Hum Genet 106:121-128 (2020)
DOI:10.1016/j.ajhg.2019.12.004
LinkDB

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