MCID: PNS014
MIFTS: 29

Penis Agenesis malady

Category: Rare diseases

Aliases & Classifications for Penis Agenesis

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Aliases & Descriptions for Penis Agenesis:

Name: Penis Agenesis 48
Micropenis 48 27 50
 
Agenesis of the Penis 48
Penis Agenesia 48

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 isolated micropenis. An important gene associated with Penis Agenesis is SRD5A2 (Steroid 5 Alpha-Reductase 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 59)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation, truncal obesity, retinal dystrophy, and micropenis12.3
2isolated micropenis11.9
3microcephaly micropenis convulsions11.8
4pseudovaginal perineoscrotal hypospadias11.5
5androgen insensitivity11.1
6leydig cell hypoplasia with pseudohermaphroditism10.9
7mental retardation, x-linked syndromic, nascimento-type10.9
8penile agenesis10.9
9leukorrhea10.2AR, SRD5A2
10familial interstitial fibrosis10.2SRD5A1, SRD5A2
11right bundle branch block10.2AR, GNRH1
12lichen planus pemphigoides10.2CGA, LHCGR
13mediastinal mesenchymal tumor10.1AR, LHCGR
14primary biliary cholangitis10.1GNRH1, LHCGR
15dystonia-parkinsonism, x-linked10.1AR, SRD5A1
16gastrojejunal ulcer10.1AR, CYP17A1, SRD5A2
17benign paroxysmal positional nystagmus10.0GNRH1, LHCGR
18renal-hepatic-pancreatic dysplasia10.0CGA, GNRH1
19lateral sclerosis10.0CYP17A1, GNRH1, LHCGR
20hidradenitis10.0AR, GNRH1, LHCGR
21cetp-related hyperalphalipoproteinemia10.0GNRH1, IGFBP3
22epilepsy, idiopathic generalized 119.9AR, SRD5A1, SRD5A2
23candidiasis9.9AR, GNRH1, LHCGR
24hypospadias 1, x-linked9.9AR, CGA, SRD5A2
25dental pulp necrosis9.9CYP17A1, GNRH1
26anorchia9.9
27pleural empyema9.9CGA, GNRH1
28ovarian hyperstimulation syndrome9.8CGA, GNRH1, LHCGR
29ovary neuroendocrine neoplasm9.8AR, LHCGR
30cryptorchidism9.8
31hypospadias9.8
32pseudohermaphroditism9.8
33vaginal discharge9.8AR, CYP17A1, LHCGR, SRD5A2
34dysostosis9.7AR, CYP17A1, IGFBP3
35diabetes mellitus, insulin-resistant, with acanthosis nigricans9.7AR, CGA, GNRH1
36sideroblastic anemia pyridoxine-responsive autosomal recessive9.7AR, CGA, IGFBP3
37obesity9.6
38charge syndrome9.6
39acrocallosal syndrome9.6
40duodenal atresia9.6
41holoprosencephaly9.6
42thalassemia9.6
43inguinal hernia9.6
44imperforate anus9.6
45microcephaly9.6
46polydactyly9.6
47hypogonadism9.6
48cerebritis9.6
49retinitis9.6
50pancreatitis9.6

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



Diseases related to penis agenesis

Symptoms & Phenotypes for Penis Agenesis

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MGI Mouse Phenotypes related to Penis Agenesis according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.7AHR, AR, CGA, CYP17A1, GNRH1, IGFBP3
2MP:00053797.3AHR, AR, CGA, GNRH1, IGFBP3, LHCGR
3MP:00053896.7AHR, AR, CGA, CYP17A1, GNRH1, LHCGR

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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Genetic tests related to Penis Agenesis:

id Genetic test Affiliating Genes
1 Micropenis27

Anatomical Context for Penis Agenesis

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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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Clinvar genetic disease variations for Penis Agenesis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SRD5A2NM_000348.3(SRD5A2): c.680G> A (p.Arg227Gln)SNV, CompoundHeterozygotePathogenicrs9332964GRCh37Chr 2, 31754395: 31754395

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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Cellular components related to Penis Agenesis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell body fiberGO:00708529.6SRD5A1, SRD5A2

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

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1biphenyl metabolic processGO:001887910.5CYP17A1, SRD5A2
2dibenzo-p-dioxin metabolic processGO:001889410.5CYP17A1, SRD5A2
3phthalate metabolic processGO:001896310.5CYP17A1, SRD5A2
4cellular response to gonadotropin stimulusGO:007137110.5CYP17A1, LHCGR
5response to nutrient levelsGO:003166710.4CYP17A1, SRD5A2
6Leydig cell differentiationGO:003332710.4AR, CYP17A1
7androgen metabolic processGO:000820910.4SRD5A1, SRD5A2
8bone developmentGO:006034810.4SRD5A1, SRD5A2
9female genitalia developmentGO:003054010.3SRD5A1, SRD5A2
10hypothalamus developmentGO:002185410.3SRD5A1, SRD5A2
11progesterone metabolic processGO:004244810.3CYP17A1, SRD5A1
12response to follicle-stimulating hormoneGO:003235410.3SRD5A1, SRD5A2
13response to peptide hormoneGO:004343410.3GNRH1, SRD5A2
14response to fungicideGO:006099210.2CYP17A1, SRD5A1
15sex differentiationGO:000754810.2AR, CYP17A1
16positive regulation of insulin-like growth factor receptor signaling pathwayGO:004356810.1AR, IGFBP3
17male genitalia developmentGO:003053910.0LHCGR, SRD5A1, SRD5A2
18androgen biosynthetic processGO:000670210.0CYP17A1, SRD5A1, SRD5A2
19hippocampus developmentGO:002176610.0CYP17A1, SRD5A1, SRD5A2
20intracellular receptor signaling pathwayGO:00305229.9AHR, AR
21response to drugGO:00424939.9CYP17A1, SRD5A1, SRD5A2
22response to steroid hormoneGO:00485459.9CYP17A1, GNRH1, SRD5A2
23response to organic cyclic compoundGO:00140709.8GNRH1, SRD5A1, SRD5A2
24response to testosteroneGO:00335749.7GNRH1, SRD5A1, SRD5A2
25male gonad developmentGO:00085849.6AR, LHCGR, SRD5A1, SRD5A2
26cell-cell signalingGO:00072679.5AR, CGA, GNRH1, SRD5A2
27regulation of gene expressionGO:00104689.5AHR, AR, GNRH1
28steroid biosynthetic processGO:00066949.3CYP17A1, SRD5A1, SRD5A2

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

idNameGO IDScoreTop Affiliating Genes
13-oxo-5-alpha-steroid 4-dehydrogenase activityGO:000386510.1SRD5A1, SRD5A2
2amide bindingGO:003321810.1SRD5A1, SRD5A2
3cholestenone 5-alpha-reductase activityGO:004775110.1SRD5A1, 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet