KEGG   DISEASE: SERKAL syndrome
Entry
H02317                      Disease                                
Name
SERKAL syndrome
  Supergrp
46,XX testicular disorder of sex development [DS:H00598]
Description
SERKAL syndrome is an autosomal recessive syndrome that consists of female to male sex reversal and renal, adrenal, and lung dysgenesis and is associated with additional developmental defects. It is caused by loss-of-function mutations in WNT4.
Category
Reproductive system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2A  Malformative disorders of sex development
    H02317  SERKAL syndrome
Pathway
hsa04150  mTOR signaling pathway
hsa04310  Wnt signaling pathway
hsa04360  Axon guidance
hsa04390  Hippo signaling pathway
Gene
WNT4 [HSA:54361] [KO:K00408]
Other DBs
ICD-11: LD2A.Y
MeSH: C567517
OMIM: 611812
Reference
PMID:15932923
  Authors
Heikkila M, Prunskaite R, Naillat F, Itaranta P, Vuoristo J, Leppaluoto J, Peltoketo H, Vainio S
  Title
The partial female to male sex reversal in Wnt-4-deficient females involves induced expression of testosterone biosynthetic genes and testosterone production, and depends on androgen action.
  Journal
Endocrinology 146:4016-23 (2005)
DOI:10.1210/en.2005-0463
Reference
PMID:18179883
  Authors
Mandel H, Shemer R, Borochowitz ZU, Okopnik M, Knopf C, Indelman M, Drugan A, Tiosano D, Gershoni-Baruch R, Choder M, Sprecher E
  Title
SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.
  Journal
Am J Hum Genet 82:39-47 (2008)
DOI:10.1016/j.ajhg.2007.08.005
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