Mammalian disorder of sexual development (Homo sapiens)

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ArcPathVisio Brace Ellipse EndoplasmicReticulum GolgiApparatus HexagonPathVisio MimDegradation Mitochondria Octagon PentagonPathVisio Rectangle RoundedRectangle SarcoplasmicReticulum TriangleEquilateralEast TrianglePathVisio none Bipotential ridgeRegression of Müllarian DuctsMale External GenetaliaSertoli CellGenital RidgeTestisGranulosa CellOvaryMale Internal GenetaliaSOX9WT1AMHSOX8CBX2TestosteroneNR5A1INSL3PGD2SOX9DHHDMRT1DHTNR5A1NR5A1CTNNB1SRD5A1WT1PBX1PTGDSSRYFGFR2AMHR2GATA4NR5A1FGF9EMX2MAPK11RSPO1WNT4GATA4RBFOX2WT1FSTFOXL2Name: Mammalian disorder of sexual developmentOrganism: Homo sapiens


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

Image:Curated.pngReview changes for Approved
Image:PLoS_OpenAccess.pngOpen Access
Image:Wplogo_31.pngCommunity: Rare Diseases

Ontology Terms

Bibliography

  1. Bashamboo A, McElreavey K; ''Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development.''; Sex Dev, 2016 PubMed Europe PMC Scholia
  2. Ostrer H; ''Disorders of sex development (DSDs): an update.''; J Clin Endocrinol Metab, 2014 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
135854
Approved
RARE
view03:10, 19 November 2024EweitzClear cache for tailor board dimensions
135853view03:09, 19 November 2024EweitzEconomize layout
135852view03:06, 19 November 2024EweitzEconomize layout
135851view02:57, 19 November 2024EweitzEconomize layout
134660view11:09, 25 July 2024EweitzModified description
134636view11:36, 23 July 2024EweitzRefine padding
134635view11:34, 23 July 2024EweitzEconomize layout
134634view11:29, 23 July 2024EweitzFix typos, use more conventional term, standardize case
134633view11:24, 23 July 2024EweitzOntology Term : 'granulosa cell' added !
134632view11:24, 23 July 2024EweitzOntology Term : 'Sertoli cell' added !
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...
Name  ↓Type  ↓Database reference  ↓Comment  ↓
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:17347 (ChEBI)
WNT4GeneProductENSG00000162552 (Ensembl)
WT1GeneProductENSG00000184937 (Ensembl)

Annotated Interactions

No annotated interactions

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