Mammalian disorder of sexual development (Homo sapiens)

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3OvaryBipotential ridgeMale External GenetaliaSertoli CellRegression of Müllarian DuctsGenital RidgeTestisGranulosa CellMale Internal GenetaliaDHTPBX1FOXL2CBX2FGF9SRD5A1GATA4EMX2PTGDSSOX8PGD2AMHR2WT1SOX9GATA4WNT4NR5A1RSPO1FGFR2NR5A1INSL3FSTSRYTestosteroneMAPK11NR5A1CTNNB1DHHSOX9WT1WT1NR5A1DMRT1AMHRBFOX21, 221111


Description

This pathway summarizes differential sex development in the human fetus. Disorders in sex development can derive from dysfunction of one or more genes.

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Quality Tags

Ontology Terms

 

Bibliography

  1. Ostrer H; ''Disorders of sex development (DSDs): an update.''; J Clin Endocrinol Metab, 2014 PubMed Europe PMC Scholia
  2. Bashamboo A, McElreavey K; ''Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development.''; Sex Dev, 2016 PubMed Europe PMC Scholia
  3. Kyriakou, A, Lucas-Herald, A, McGowan, R, Tobias, E, Ahmed, F; ''Disorders of sex development: advances in genetic diagnosis and challenges in management ''; Dovepress, 10.2147/AGG.S53226, 2015 DOI Scholia

History

View all...
CompareRevisionActionTimeUserComment
119114view15:15, 17 June 2021FinterlyAdded DOI to PublicationXref
110324view14:12, 4 May 2020FehrhartModified description
110294view14:21, 2 May 2020EgonwReplaced a secondary ChEBI identifiers with a primary identifier.
110283view07:55, 2 May 2020EgonwNot a mim-conversion
110279view07:12, 2 May 2020EgonwNot a mim-conversion
110262view15:31, 30 April 2020EgonwNot a mim-conversion
110076view09:02, 16 April 2020FehrhartOntology Term : 'sex differentiation disease' added !
110075view09:02, 16 April 2020FehrhartOntology Term : 'signaling pathway' added !
110074view09:02, 16 April 2020FehrhartOntology Term : 'sexual dysfunction' added !
110073view09:01, 16 April 2020FehrhartOntology Term : 'ovarian dysfunction' added !
110072view08:56, 16 April 2020FehrhartModified description
110071view08:55, 16 April 2020FehrhartCorrected format of reference, detangled graphics
109504view12:32, 20 March 2020FehrhartModified title
109310view14:18, 10 March 2020WoltersAAT1804Modified description
109309view14:18, 10 March 2020WoltersAAT1804New pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
AMHGeneProductENSG00000104899 (Ensembl)
AMHR2GeneProductENSG00000135409 (Ensembl)
CBX2GeneProductENSG00000173894 (Ensembl)
CTNNB1GeneProductENSG00000168036 (Ensembl)
DHHGeneProductENSG00000139549 (Ensembl)
DHTMetaboliteHMDB0006770 (HMDB)
DMRT1GeneProductENSG00000137090 (Ensembl)
EMX2GeneProductENSG00000170370 (Ensembl)
FGF9GeneProductENSG00000102678 (Ensembl)
FGFR2GeneProductENSG00000066468 (Ensembl)
FOXL2GeneProductENSG00000183770 (Ensembl)
FSTGeneProductFST (HGNC)
GATA4GeneProductENSG00000136574 (Ensembl)
INSL3GeneProductENSG00000248099 (Ensembl)
MAPK11GeneProductENSG00000185386 (Ensembl)
NR5A1GeneProductENSG00000136931 (Ensembl)
PBX1GeneProductENSG00000185630 (Ensembl)
PGD2MetaboliteCHEBI:15555 (ChEBI)
PTGDSGeneProductENSG00000107317 (Ensembl)
RBFOX2GeneProductENSG00000100320 (Ensembl)
RSPO1GeneProductENSG00000169218 (Ensembl)
SOX8GeneProductENSG00000005513 (Ensembl)
SOX9GeneProductENSG00000125398 (Ensembl)
SRD5A1GeneProductENSG00000145545 (Ensembl)
SRYGeneProductENSG00000184895 (Ensembl)
TestosteroneMetaboliteCHEBI:9461 (ChEBI)
WNT4GeneProductENSG00000162552 (Ensembl)
WT1GeneProductENSG00000184937 (Ensembl)

Annotated Interactions

No annotated interactions

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