MCID: PNS014
MIFTS: 10

Penis Agenesis malady

Category: Rare diseases

Aliases & Classifications for Penis Agenesis

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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 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 reproductive system.

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 75)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation, truncal obesity, retinal dystrophy, and micropenis12.6
2microcephaly micropenis convulsions12.3
3hypopituitarism micropenis cleft lip palate12.3
4isolated micropenis12.3
5penile agenesis11.4
6leydig cell hypoplasia with pseudohermaphroditism10.5
7hodgkin lymphoma10.3
8lymphoma10.3
9androgen insensitivity10.3
10mental retardation, x-linked syndromic, nascimento-type10.3
115-alpha reductase deficiency10.3
12renal adenoma10.3CYP17A1, LHCGR
135-nucleotidase syndrome10.2SRD5A1, SRD5A2
14mediastinal cancer10.2AR, LHCGR
15background diabetic retinopathy10.2AR, GNRH1
16precocious puberty, gonadotropin-dependent10.2GNRH1, LHCGR
17schizophrenia10.2
18malaria10.2
19child syndrome10.2
20hematopoietic stem cell transplantation10.2
21erysipelas10.2
22hiatus hernia10.2
23hairy tongue10.2
24plasmodium falciparum malaria10.2
25ankylosis10.2
26cystadenoma10.2
27dermatitis10.2
28cystadenocarcinoma10.2
29keratoacanthoma10.2
30atopic dermatitis10.2
31ganglioneuroblastoma10.2
32erdheim-chester disease10.2
33pancreatitis10.2
34neuronitis10.2
35candida glabrata10.2
36head injury10.2
37endotheliitis10.2
38craniofrontonasal dysplasia10.2AR, SRD5A1
39complete atrioventricular canal10.2AR, CGA
40leptospirosis10.1CYP17A1, GNRH1
41sex differentiation disease10.1AR, GNRH1
42dowling-degos disease10.1CGA, GNRH1
43siberian tick typhus10.1AR, CYP17A1, SRD5A2
44pigmented villonodular synovitis10.1
45synovitis10.1
46villonodular synovitis10.1
47prph2-related adult-onset vitelliform macular dystrophy10.1AR, CYP17A1
48external ear disease10.1CGA, GNRH1
49retroperitoneal lymphoma10.1CGA, GNRH1
50cetp-related hyperalphalipoproteinemia10.1GNRH1, IGFBP3

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:00053766.9AHR, AR, CGA, CYP17A1, GNRH1, IGFBP3
2MP:00053896.6AHR, AR, CGA, CYP17A1, GNRH1, LHCGR
3MP:00053796.6AHR, AR, CGA, GNRH1, IGFBP3, LHCGR

Publications for Penis Agenesis

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Articles related to Penis Agenesis:

idTitleAuthorsYear
1
Co-delivery of siRNA and paclitaxel into cancer cells by biodegradable cationic micelles based on PDMAEMA-PCL-PDMAEMA triblock copolymers. (19963269)
2010
2
Ki-67 immunoreactivity in the differential diagnosis of pulmonary neuroendocrine neoplasms in specimens with extensive crush artifact. (15899778)
2005

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 20)
idNameGO IDScoreTop Affiliating Genes
1phthalate metabolic processGO:001896310.3CYP17A1, SRD5A2
2response to follicle-stimulating hormoneGO:003235410.2SRD5A1, SRD5A2
3response to fungicideGO:006099210.1CYP17A1, SRD5A1
4Leydig cell differentiationGO:003332710.0AR, CYP17A1
5female genitalia developmentGO:003054010.0SRD5A1, SRD5A2
6bone developmentGO:006034810.0SRD5A1, SRD5A2
7hypothalamus developmentGO:00218549.8SRD5A1, SRD5A2
8androgen biosynthetic processGO:00067029.8CYP17A1, SRD5A1, SRD5A2
9positive regulation of insulin-like growth factor receptor signaling pathwayGO:00435689.8AR, IGFBP3
10positive regulation of MAPK cascadeGO:00434109.8AR, IGFBP3
11response to steroid hormoneGO:00485459.7CYP17A1, GNRH1, SRD5A2
12progesterone metabolic processGO:00424489.7CYP17A1, SRD5A1
13male gonad developmentGO:00085849.6CYP17A1, SRD5A1, SRD5A2
14intracellular receptor signaling pathwayGO:00305229.5AHR, AR
15sex differentiationGO:00075489.5AR, CYP17A1, SRD5A1
16male genitalia developmentGO:00305399.4LHCGR, SRD5A1, SRD5A2
17response to peptide hormoneGO:00434349.4GNRH1, SRD5A2
18steroid biosynthetic processGO:00066949.3CYP17A1, SRD5A1, SRD5A2
19cell-cell signalingGO:00072679.1AR, CGA, SRD5A2
20response to organic cyclic compoundGO:00140708.8AHR, SRD5A1, SRD5A2

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