Details of Disease

Disease Name

Cryptorchidism

cryptorchidism, unilateral or bilateral; undescended testicle; undescended testis; undescended testicles; undescended testes; cryptorchidism (disease); cryptorchism; cryptorchidism

Definition

The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life.

Disease Hierarchy

DISOEQW8: Male reproductive system disorder

DISYKSRF: Genetic disease

DISYUD2P: Cryptorchidism

Disease Identifiers

MONDO ID

MONDO_0009047

MESH ID

D003456

UMLS CUI

C0010417

OMIM ID

219050

MedGen ID

8192

HPO ID

HP:0000028

SNOMED CT ID

204878001

General Information of Disease (ID: DISYUD2P)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 40 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AMHR2	TTZDCPK	Limited	Genetic Variation	[1]
ANXA5	TT2Z83I	Limited	Biomarker	[2]
AR	TTKPW01	Limited	Genetic Variation	[3]
FAS	TT7LTUJ	Limited	Biomarker	[4]
GART	TTEXB9Z	Limited	Genetic Variation	[5]
IGF1R	TTQFBMY	Limited	Biomarker	[6]
IL31	TT1RJXK	Limited	Genetic Variation	[7]
KDM5A	TTIG67W	Limited	Biomarker	[8]
KIR2DS2	TTV3CFI	Limited	Genetic Variation	[9]
MYH2	TTBIL13	Limited	Altered Expression	[10]
MYH7	TTNIMDP	Limited	Altered Expression	[10]
PLK4	TTGPNZQ	Limited	Biomarker	[11]
RAF1	TTAN5W2	Limited	Genetic Variation	[12]
WT1	TTZ8UT4	Limited	Genetic Variation	[13]
CASP3	TTPF2QI	Disputed	Biomarker	[4]
CBL	TT7QT13	moderate	Genetic Variation	[14]
FLNA	TTSTRZY	moderate	Genetic Variation	[15]
GATA4	TT1VDN2	moderate	Altered Expression	[16]
GNRHR	TT8R70G	moderate	Genetic Variation	[17]
KISS1R	TT3KBZY	moderate	Genetic Variation	[18]
MECP2	TTTAU9R	moderate	Biomarker	[19]
STAR	TTEI40H	moderate	Biomarker	[20]
TACR3	TTBPGLU	moderate	Biomarker	[21]
ABL1	TT6B75U	Strong	CausalMutation	[22]
BCL2L1	TTRE6AX	Strong	Biomarker	[23]
BRSK2	TTHZN4X	Strong	Genetic Variation	[24]
CHRM3	TTQ13Z5	Strong	Biomarker	[25]
CYP11A1	TTSYVO6	Strong	Biomarker	[26]
CYP17A1	TTRA5BZ	Strong	Biomarker	[27]
CYP19A1	TTSZLWK	Strong	Genetic Variation	[28]
EBP	TT4VQZX	Strong	Genetic Variation	[29]
EED	TTFNJ4R	Strong	Biomarker	[30]
FGF8	TTIUF3J	Strong	Genetic Variation	[31]
GPRC6A	TTI1PRE	Strong	Altered Expression	[32]
HSF1	TTN6STZ	Strong	Biomarker	[20]
KAT6B	TTH4VJL	Strong	CausalMutation	[33]
MMP11	TTZW4MV	Strong	Altered Expression	[34]
NR0B1	TTTK36V	Strong	Biomarker	[35]
OPHN1	TTU7HRD	Strong	Genetic Variation	[36]
PROKR2	TTM67AX	Strong	Genetic Variation	[37]
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⏷ Show the Full List of 40 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ATP2B1	DTJWQ1L	Limited	Altered Expression	[38]
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This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
GGCT	DEKW6PB	Strong	Genetic Variation	[39]
HSD3B2	DEN0GVQ	Strong	Biomarker	[23]
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This Disease Is Related to 44 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALPG	OTCIM29R	Limited	Biomarker	[40]
AMH	OT5FH4BD	Limited	Genetic Variation	[1]
ATP2A1	OT959A3A	Limited	Altered Expression	[38]
GFER	OTVK43OK	Limited	Biomarker	[41]
GTSF1	OTV7PQJF	Limited	Altered Expression	[42]
HOXD13	OTWSC8TF	Limited	Biomarker	[43]
HTRA2	OTC7616F	Limited	Biomarker	[44]
MIER1	OTT0UJAS	Limited	Genetic Variation	[45]
MKX	OT7H7Z50	Limited	Genetic Variation	[46]
MSX1	OT5U41ZP	Limited	Biomarker	[47]
NR5A1	OTOULYR4	Limited	Genetic Variation	[48]
NUMA1	OTTKAVG4	Limited	Altered Expression	[49]
PAICS	OTMZN747	Limited	Genetic Variation	[5]
PARPBP	OTPZDGW7	Limited	Genetic Variation	[50]
PGK2	OTMD662Q	Limited	Altered Expression	[51]
PIWIL4	OTDA9MY0	Limited	Altered Expression	[42]
PRDM9	OTWAHLUR	Limited	Biomarker	[11]
PTBP2	OTF4S7NE	Limited	Biomarker	[51]
RPL29	OTUFIBJL	Limited	Biomarker	[52]
RXFP2	OT7SAT9U	Limited	Autosomal recessive	[53]
SPAG5	OTCLJ56M	Limited	Altered Expression	[54]
STRA8	OT3DKIYB	Limited	Altered Expression	[55]
STRBP	OTU7XLZL	Limited	Altered Expression	[56]
SYCP3	OTKOF54H	Limited	Altered Expression	[55]
SYNE2	OTBUXGQ0	Limited	Biomarker	[57]
ACTB	OT1MCP2F	moderate	Biomarker	[58]
ANOS1	OTZJT4KN	moderate	Genetic Variation	[59]
CHD7	OTHNIZWZ	moderate	Genetic Variation	[60]
INSL3	OT7KUNTE	Moderate	Autosomal dominant	[53]
OCRL	OTQ3L42N	moderate	Altered Expression	[61]
RBMY1A1	OTM2F25H	moderate	Genetic Variation	[62]
TAC3	OTOJGM38	moderate	Biomarker	[21]
ARNT2	OTAQD3YV	Strong	Genetic Variation	[27]
ATRX	OT77RSQW	Strong	Biomarker	[63]
DHH	OT3B7721	Strong	Genetic Variation	[64]
DKKL1	OTWS7DED	Strong	Biomarker	[65]
EGR4	OT4R3ECK	Strong	Biomarker	[66]
GPX4	OTRAFFX2	Strong	Biomarker	[23]
NANOS2	OTFM2IDJ	Strong	Altered Expression	[67]
PUM1	OTTMWP8L	Strong	Biomarker	[68]
SMCHD1	OTBV52DR	Strong	CausalMutation	[69]
SOS1	OTTCWXC3	Strong	Altered Expression	[70]
SRY	OT516T6D	Strong	Biomarker	[71]
TCF4	OTB9ASTK	Strong	Genetic Variation	[72]
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⏷ Show the Full List of 44 DOT(s)

References

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23	Phospholipid hydroperoxide glutathione peroxidase is involved in the maintenance of male fertility under cryptorchidism in mice.Reprod Toxicol. 2015 Nov;57:73-80. doi: 10.1016/j.reprotox.2015.05.014. Epub 2015 Jun 4.
24	Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. Am J Hum Genet. 2019 Apr 4;104(4):701-708. doi: 10.1016/j.ajhg.2019.02.002. Epub 2019 Mar 14.
25	Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. Am J Hum Genet. 2011 Nov 11;89(5):668-74. doi: 10.1016/j.ajhg.2011.10.007.
26	A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient.J Clin Endocrinol Metab. 2009 Mar;94(3):936-9. doi: 10.1210/jc.2008-1118. Epub 2008 Dec 30.
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28	Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies.Mol Cell Endocrinol. 2014 Jun 5;390(1-2):8-17. doi: 10.1016/j.mce.2014.03.008. Epub 2014 Apr 4.
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31	Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies.Birth Defects Res A Clin Mol Teratol. 2014 Oct;100(10):750-9. doi: 10.1002/bdra.23278. Epub 2014 Aug 8.
32	Polymorphism rs2274911 of GPRC6A as a Novel Risk Factor for Testis Failure.J Clin Endocrinol Metab. 2016 Mar;101(3):953-61. doi: 10.1210/jc.2015-3967. Epub 2016 Jan 6.
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46	Interstitial 10p11.23-p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidism.Am J Med Genet A. 2014 Oct;164A(10):2623-6. doi: 10.1002/ajmg.a.36627. Epub 2014 Jul 29.
47	Altered expression of muscle- and cytoskeleton-related genes in a rat strain with inherited cryptorchidism.J Androl. 2008 May-Jun;29(3):352-66. doi: 10.2164/jandrol.107.003970. Epub 2008 Jan 24.
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