MCID: PNS014
MIFTS: 30

Penis Agenesis malady

Categories: Rare diseases

Aliases & Classifications for Penis Agenesis

Aliases & Descriptions for Penis Agenesis:

Name: Penis Agenesis 50
Micropenis 50 29 52
Agenesis of the Penis 50
Penis Agenesia 50

Classifications:



Summaries for Penis Agenesis

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/superpathways are Prolactin Signaling Pathway and Transcription Androgen Receptor nuclear signaling. Related phenotypes are endocrine/exocrine gland and homeostasis/metabolism

Related Diseases for Penis Agenesis

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

(show top 50) (show all 74)
id Related Disease Score Top Affiliating Genes
1 mental retardation, truncal obesity, retinal dystrophy, and micropenis 12.3
2 isolated micropenis 11.9
3 microcephaly micropenis convulsions 11.8
4 pseudovaginal perineoscrotal hypospadias 11.5
5 androgen insensitivity 11.1
6 penile agenesis 10.9
7 leydig cell hypoplasia with pseudohermaphroditism 10.9
8 mental retardation, x-linked syndromic, nascimento-type 10.9
9 pituitary stalk interruption syndrome 10.8
10 5-alpha reductase deficiency 10.8
11 leydig cell hypoplasia 10.8
12 absence of fingerprints congenital milia 10.2 SRD5A1 SRD5A2
13 liver sarcoma 10.2 CYP17A1 LHCGR
14 limbic encephalitis 10.2 CGA LHCGR
15 mature teratoma 10.2 AR LHCGR
16 primary effusion lymphoma 10.1 GNRH1 LHCGR
17 hole retinal cyst 10.1 AR GNRH1
18 deafness, autosomal recessive 74 10.1 CYP17A1 GNRH1
19 dystonia-parkinsonism, x-linked 10.1 AR SRD5A1
20 malignant teratocarcinosarcoma 10.1 AR CGA
21 borderline personality disorder 10.1 AR CYP17A1 SRD5A2
22 capillary disease 10.1 AR CGA
23 gaucher's disease 10.0 AR GNRH1
24 renal-hepatic-pancreatic dysplasia 10.0 CGA GNRH1
25 acute gonococcal salpingitis 10.0 GNRH1 LHCGR
26 capillary lymphangioma 10.0 AR GNRH1 LHCGR
27 intraventricular meningioma 10.0 AR CGA SRD5A2
28 epidural spinal canal meningioma 10.0 CGA GNRH1
29 leukoencephalopathy with ataxia 10.0 AR SRD5A1 SRD5A2
30 avoidant personality disorder 10.0 AR GNRH1 LHCGR
31 hypospadias 1, x-linked 10.0 AR CGA SRD5A2
32 skin hemangioma 10.0 AR SRD5A1 SRD5A2
33 benign perivascular tumor 10.0 AR GNRH1 LHCGR
34 exocervical carcinoma 10.0 AR CYP17A1 SRD5A1
35 spinocerebellar ataxia 25 10.0 CGA GNRH1
36 primary biliary cirrhosis 10.0 CYP17A1 GNRH1 SRD5A1
37 third ventricle chordoid glioma 10.0 AR CYP17A1 LHCGR SRD5A2
38 diabetes mellitus, insulin-resistant, with acanthosis nigricans 9.9 AR CGA GNRH1
39 trachea carcinoma in situ 9.9 AHR CGA
40 retroperitoneal sarcoma 9.9 CGA GNRH1
41 pelvic muscle wasting 9.9 CYP17A1 GNRH1
42 congenital articular rigidity 9.9 AR CGA IGFBP3
43 sphingolipidosis 9.9 AR CYP17A1 GNRH1 LHCGR
44 benign essential hypertension 9.9 AR CYP17A1 SRD5A1 SRD5A2
45 anorchia 9.9
46 adult medulloblastoma 9.8 AR CYP17A1 GNRH1 IGFBP3
47 bardet-biedl syndrome 9.8 AR CYP17A1 GNRH1 IGFBP3
48 pseudohermaphroditism 9.8
49 cryptorchidism 9.8
50 hypospadias 9.8

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



Diseases related to Penis Agenesis

Symptoms & Phenotypes for Penis Agenesis

MGI Mouse Phenotypes related to Penis Agenesis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.76 AHR AR CGA GNRH1 IGFBP3 LHCGR
2 homeostasis/metabolism MP:0005376 9.5 AHR AR CGA CYP17A1 GNRH1 IGFBP3
3 reproductive system MP:0005389 9.23 SRD5A1 SRD5A2 AHR AR CGA CYP17A1

Drugs & Therapeutics for Penis Agenesis

Interventional clinical trials:


id Name Status NCT ID Phase
1 Establishing Nomograms of Penile Length and Width Throughout the Weeks of Pregnancy Withdrawn NCT01659528

Search NIH Clinical Center for Penis Agenesis

Genetic Tests for Penis Agenesis

Genetic tests related to Penis Agenesis:

id Genetic test Affiliating Genes
1 Micropenis 29

Anatomical Context for Penis Agenesis

Publications for Penis Agenesis

Articles related to Penis Agenesis:

id Title Authors Year
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

ClinVar genetic disease variations for Penis Agenesis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SRD5A2 NM_000348.3(SRD5A2): c.78C> G (p.Tyr26Ter) single nucleotide variant Pathogenic rs104893667 GRCh37 Chromosome 2, 31805892: 31805892
2 SRD5A2 NM_000348.3(SRD5A2): c.680G> A (p.Arg227Gln) single nucleotide variant Pathogenic rs9332964 GRCh37 Chromosome 2, 31754395: 31754395

Expression for Penis Agenesis

Search GEO for disease gene expression data for Penis Agenesis.

Pathways for Penis Agenesis

GO Terms for Penis Agenesis

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

id Name GO ID Score Top Affiliating Genes
1 cell body fiber GO:0070852 8.62 SRD5A1 SRD5A2

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

(show all 22)
id Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.78 AR CGA GNRH1 SRD5A2
2 regulation of gene expression GO:0010468 9.74 AHR AR GNRH1
3 response to organic cyclic compound GO:0014070 9.72 GNRH1 SRD5A1 SRD5A2
4 steroid metabolic process GO:0008202 9.69 CYP17A1 SRD5A1 SRD5A2
5 male gonad development GO:0008584 9.62 AR LHCGR SRD5A1 SRD5A2
6 hippocampus development GO:0021766 9.61 SRD5A1 SRD5A2
7 bone development GO:0060348 9.6 SRD5A1 SRD5A2
8 response to peptide hormone GO:0043434 9.59 GNRH1 SRD5A2
9 intracellular receptor signaling pathway GO:0030522 9.58 AHR AR
10 response to steroid hormone GO:0048545 9.58 GNRH1 SRD5A2
11 steroid biosynthetic process GO:0006694 9.58 CYP17A1 SRD5A1 SRD5A2
12 androgen metabolic process GO:0008209 9.56 SRD5A1 SRD5A2
13 hypothalamus development GO:0021854 9.54 SRD5A1 SRD5A2
14 response to testosterone GO:0033574 9.54 GNRH1 SRD5A1 SRD5A2
15 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.52 AR IGFBP3
16 cellular response to testosterone stimulus GO:0071394 9.49 AR SRD5A1
17 female genitalia development GO:0030540 9.46 SRD5A1 SRD5A2
18 response to follicle-stimulating hormone GO:0032354 9.43 SRD5A1 SRD5A2
19 male genitalia development GO:0030539 9.43 LHCGR SRD5A1 SRD5A2
20 androgen biosynthetic process GO:0006702 9.33 CYP17A1 SRD5A1 SRD5A2
21 progesterone metabolic process GO:0042448 9.13 CYP17A1 SRD5A1 SRD5A2
22 sex differentiation GO:0007548 8.92 AR CYP17A1 SRD5A1 SRD5A2

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

id Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding GO:0004879 9.32 AHR AR
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.26 SRD5A1 SRD5A2
3 amide binding GO:0033218 9.16 SRD5A1 SRD5A2
4 3-oxo-5-alpha-steroid 4-dehydrogenase activity GO:0003865 8.96 SRD5A1 SRD5A2
5 cholestenone 5-alpha-reductase activity GO:0047751 8.62 SRD5A1 SRD5A2

Sources for Penis Agenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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