Aliases & Classifications for Penis Agenesis

MalaCards integrated aliases for Penis Agenesis:

Name: Penis Agenesis 49
Micropenis 49 28 51
Agenesis of the Penis 49
Penis Agenesia 49

Classifications:



Summaries for Penis Agenesis

MalaCards based summary : Penis Agenesis, also known as micropenis, is related to androgen insensitivity syndrome and 5-alpha reductase deficiency. 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 growth/size/body region

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 85)
# Related Disease Score Top Affiliating Genes
1 androgen insensitivity syndrome 31.7 AR CGA SRD5A2
2 5-alpha reductase deficiency 31.6 SRD5A1 SRD5A2
3 leydig cell hypoplasia 31.5 CGA LHCGR
4 androgen insensitivity, partial 31.4 AR SRD5A1
5 cryptorchidism, unilateral or bilateral 29.6 AR CGA GNRH1
6 pseudohermaphroditism 29.5 AR CYP17A1 LHCGR SRD5A2
7 robinow syndrome 29.4 CGA GNRH1
8 complete androgen insensitivity syndrome 29.2 AR CGA IGFBP3
9 hypospadias 29.0 AR CYP17A1 LHCGR SRD5A1 SRD5A2
10 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 12.4
11 isolated micropenis 12.0
12 microcephaly micropenis convulsions 12.0
13 pseudovaginal perineoscrotal hypospadias 11.6
14 penile agenesis 11.0
15 leydig cell hypoplasia, type i 11.0
16 kleefstra syndrome 10.8
17 syndromic x-linked intellectual disability nascimento type 10.8
18 solitary median maxillary central incisor 10.8
19 hypogonadotropic hypogonadism 10.8
20 ulnar-mammary syndrome 10.8
21 pituitary stalk interruption syndrome 10.8
22 x-linked lissencephaly with abnormal genitalia 10.8
23 ritscher-schinzel syndrome 1 10.8
24 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.8
25 mental retardation, x-linked, syndromic, nascimento type 10.8
26 hermaphroditism 10.3 AR SRD5A2
27 prostatic hyperplasia, benign 10.3 AR SRD5A2
28 leydig cell tumor 10.3 CYP17A1 LHCGR
29 transsexualism 10.2 AR CYP17A1
30 testicular germ cell cancer 10.2 AR LHCGR
31 nodular prostate 10.2 AR GNRH1
32 precocious puberty 10.2 GNRH1 LHCGR
33 malignant germ cell tumor 10.1 AR CGA
34 prostatic adenoma 10.1 AR SRD5A1
35 47, xxy 10.1 AR IGFBP3
36 leiomyoma, uterine 10.1 CYP17A1 GNRH1
37 mammographic density 10.1 CYP17A1 IGFBP3
38 gonadal disease 10.1 AR GNRH1
39 gynecomastia 10.1 AR CGA
40 female reproductive system disease 10.1 CYP17A1 GNRH1
41 anovulation 10.0 CGA GNRH1
42 hyperandrogenism 10.0 CYP17A1 GNRH1
43 varicocele 10.0 CGA GNRH1
44 reproductive system disease 10.0 AR GNRH1 LHCGR
45 alopecia, androgenetic, 1 10.0 AR SRD5A1 SRD5A2
46 anorchia 10.0
47 prostate disease 10.0 AR SRD5A1 SRD5A2
48 amenorrhea 9.9 GNRH1 LHCGR
49 ovarian hyperstimulation syndrome 9.9 CGA GNRH1 LHCGR
50 polycystic ovary syndrome 9.8 CYP17A1 GNRH1 SRD5A1

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.01 AHR AR CGA GNRH1 IGFBP3 LHCGR
2 growth/size/body region MP:0005378 9.91 AHR AR CGA CYP17A1 GNRH1 IGFBP3
3 homeostasis/metabolism MP:0005376 9.87 AHR AR CGA CYP17A1 GNRH1 IGFBP3
4 adipose tissue MP:0005375 9.73 CYP17A1 IGFBP3 LHCGR AR
5 liver/biliary system MP:0005370 9.65 AHR AR GNRH1 IGFBP3 LHCGR
6 renal/urinary system MP:0005367 9.63 IGFBP3 LHCGR AHR AR CYP17A1 GNRH1
7 reproductive system MP:0005389 9.56 AHR AR CGA CYP17A1 GNRH1 LHCGR
8 skeleton MP:0005390 9.1 AHR AR CYP17A1 GNRH1 IGFBP3 LHCGR

Drugs & Therapeutics for Penis Agenesis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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:

# Genetic test Affiliating Genes
1 Micropenis 28

Anatomical Context for Penis Agenesis

Publications for Penis Agenesis

Articles related to Penis Agenesis:

# 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
# 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/Likely 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:

# 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)
# 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 response to follicle-stimulating hormone GO:0032354 9.46 SRD5A1 SRD5A2
18 female genitalia development GO:0030540 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:

# Name GO ID Score Top Affiliating Genes
1 nuclear receptor activity 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 cholestenone 5-alpha-reductase activity GO:0047751 8.96 SRD5A1 SRD5A2
5 3-oxo-5-alpha-steroid 4-dehydrogenase activity GO:0003865 8.62 SRD5A1 SRD5A2

Sources for Penis Agenesis

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