MCID: PNS014
MIFTS: 24

Penis Agenesis malady

Rare diseases category

Aliases & Classifications for Penis Agenesis

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Sources:
45NIH Rare Diseases, 47Novoseek
See all sources

Aliases & Descriptions for Penis Agenesis:

Name: Penis Agenesis 45
Micropenis 45 47
 
Agenesis of the Penis 45
Penis Agenesia 45


Classifications:



Summaries for Penis Agenesis

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MalaCards based summary: Penis Agenesis, also known as micropenis, is related to mental retardation, truncal obesity, retinal dystrophy, and micropenis and microcephaly micropenis convulsions. An important gene associated with Penis Agenesis is SRD5A2 (Steroid-5-Alpha-Reductase, Alpha Polypeptide 2 (3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Alpha 2)), and among its related pathways are Nongenotropic Androgen signaling and Transcription_Role of VDR in regulation of genes involved in osteoporosis. Related mouse phenotypes are homeostasis/metabolism and endocrine/exocrine gland.

Related Diseases for Penis Agenesis

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Diseases related to Penis Agenesis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 278)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation, truncal obesity, retinal dystrophy, and micropenis10.4
2microcephaly micropenis convulsions10.3
3isolated micropenis10.3
4androgen insensitivity10.2
5hypopituitarism micropenis cleft lip palate10.2
6lice infestation10.2CYP17A1, LHCGR
75-nucleotidase syndrome10.1SRD5A1, SRD5A2
8right bundle branch block10.1AR, GNRH1
9precocious puberty, gonadotropin-dependent10.1GNRH1, LHCGR
10hypoglossal nerve neoplasm10.1AR, GNRH1
11craniofrontonasal dysplasia10.1AR, SRD5A1
12testicular granulosa cell tumor10.1AR, CGA
13reticular pattern testicular yolk sac tumor10.1AR, CYP17A1, SRD5A2
14prostatic urethral cancer10.1AR, SRD5A1
15meier-gorlin syndrome 110.1
16agnathia-otocephaly complex10.1
17hypoparathyroidism-retardation-dysmorphism syndrome10.1
18perlman syndrome10.1
19ablepharon-macrostomia syndrome10.1
20ulna and fibula, absence of, with severe limb deficiency10.1
21pierson syndrome10.1
22microphthalmia, syndromic 310.1
23laron dwarfism10.1
24treacher collins syndrome 110.1
25yunis-varon syndrome10.1
26sudden infant death with dysgenesis of the testes syndrome10.1
27williams-beuren syndrome10.1
28single median maxillary central incisor10.1
29ritscher-schinzel syndrome10.1
30robinow syndrome, autosomal recessive10.1
31kleefstra syndrome10.1
32meacham syndrome10.1
33smith-lemli-opitz syndrome10.1
34gracile bone dysplasia10.1
35lathosterolosis10.1
36kabuki syndrome 110.1
37ulnar-mammary syndrome10.1
38lig4 syndrome10.1
39prader-willi syndrome10.1
40johanson-blizzard syndrome10.1
41floating-harbor syndrome10.1
42townes-brocks syndrome10.1
43pitt-hopkins syndrome10.1
44laurence-moon syndrome10.1
45spinal muscular atrophy, x-linked 2, infantile10.1
46wilson-turner syndrome10.1
47borjeson-forssman-lehmann syndrome10.1
48androgen insensitivity, partial, with or without breast cancer10.1
49holoprosencephaly10.1
50retinitis pigmentosa10.1

Graphical network of the top 20 diseases related to Penis Agenesis:



Diseases related to penis agenesis

Symptoms for Penis Agenesis

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Drugs & Therapeutics for Penis Agenesis

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Establishing Nomograms of Penile Length and Width Throughout the Weeks of PregnancyWithdrawnNCT01659528

Search NIH Clinical Center for Penis Agenesis

Genetic Tests for Penis Agenesis

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Anatomical Context for Penis Agenesis

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Animal Models for Penis Agenesis or affiliated genes

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MGI Mouse Phenotypes related to Penis Agenesis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053766.8AHR, AR, CGA, CYP17A1, GNRH1, IGFBP3
2MP:00053796.5AHR, AR, CGA, GNRH1, IGFBP3, LHCGR
3MP:00053896.4AHR, AR, CGA, CYP17A1, GNRH1, LHCGR

Publications for Penis Agenesis

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Articles related to Penis Agenesis:

idTitleAuthorsYear
1
A rare case of penis agenesis (Aphallia) with associated multiple urogenital anomalies. (26298242)
2015
2
Penis agenesis associated with mental retardation: a case report. (12549651)
2002

Variations for Penis Agenesis

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Expression for genes affiliated with Penis Agenesis

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Search GEO for disease gene expression data for Penis Agenesis.

Pathways for genes affiliated with Penis Agenesis

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GO Terms for genes affiliated with Penis Agenesis

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Biological processes related to Penis Agenesis according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1response to steroid hormoneGO:004854510.1GNRH1, SRD5A2
2positive regulation of insulin-like growth factor receptor signaling pathwayGO:004356810.0AR, IGFBP3
3response to peptide hormoneGO:004343410.0GNRH1, SRD5A2
4steroid biosynthetic processGO:000669410.0CYP17A1, SRD5A2
5male genitalia developmentGO:003053910.0LHCGR, SRD5A2
6response to testosteroneGO:00335749.9GNRH1, SRD5A2
7reproductive structure developmentGO:00486089.8AHR, AR
8androgen biosynthetic processGO:00067029.8CYP17A1, SRD5A1, SRD5A2
9prostate gland developmentGO:00308509.8AHR, AR
10male gonad developmentGO:00085849.4AR, LHCGR, SRD5A2
11intracellular receptor signaling pathwayGO:00305229.4AHR, AR
12steroid metabolic processGO:00082029.4CYP17A1, SRD5A1, SRD5A2
13cell-cell signalingGO:00072679.1AR, CGA, GNRH1, SRD5A2
14sex differentiationGO:00075488.9AR, CYP17A1, SRD5A1
15regulation of gene expressionGO:00104688.7AHR, AR, GNRH1

Molecular functions related to Penis Agenesis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
13-oxo-5-alpha-steroid 4-dehydrogenase activityGO:00038659.7SRD5A1, SRD5A2
2cholestenone 5-alpha-reductase activityGO:00477519.5SRD5A1, SRD5A2
3oxidoreductase activity, acting on the CH-CH group of donorsGO:00166279.3SRD5A1, SRD5A2
4RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA bindingGO:00048799.2AHR, AR

Sources for Penis Agenesis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet