Aliases & Classifications for Penis Agenesis

MalaCards integrated aliases for Penis Agenesis:

Name: Penis Agenesis 53
Micropenis 53 29 55 6
Agenesis of the Penis 53
Penis Agenesia 53

Classifications:



Summaries for Penis Agenesis

MalaCards based summary : Penis Agenesis, also known as micropenis, is related to androgen insensitivity, partial 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. The drugs Testosterone undecanoate and Testosterone have been mentioned in the context of this disorder. 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 74)
# Related Disease Score Top Affiliating Genes
1 androgen insensitivity, partial 32.1 AR SRD5A1
2 5-alpha reductase deficiency 31.8 SRD5A1 SRD5A2
3 leydig cell hypoplasia 31.7 CGA LHCGR
4 androgen insensitivity syndrome 31.6 AR CGA SRD5A2
5 pseudohermaphroditism 29.4 AR CYP17A1 LHCGR SRD5A2
6 robinow syndrome 29.1 CGA GNRH1
7 complete androgen insensitivity syndrome 28.9 AR CGA IGFBP3
8 hypospadias 28.5 AR CYP17A1 LHCGR SRD5A1 SRD5A2
9 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 12.4
10 isolated micropenis 12.0
11 microcephaly micropenis convulsions 11.9
12 pseudovaginal perineoscrotal hypospadias 11.6
13 penile agenesis 11.0
14 leydig cell hypoplasia, type i 11.0
15 mental retardation, x-linked, syndromic, nascimento type 10.8
16 pituitary stalk interruption syndrome 10.8
17 x-linked lissencephaly with abnormal genitalia 10.8
18 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 10.8
19 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.8
20 solitary median maxillary central incisor 10.8
21 ritscher-schinzel syndrome 1 10.8
22 kleefstra syndrome 10.8
23 syndromic x-linked intellectual disability nascimento type 10.8
24 hypogonadotropic hypogonadism 10.8
25 leydig cell tumor 10.4 CYP17A1 LHCGR
26 prostatic hyperplasia, benign 10.4 AR SRD5A2
27 transsexualism 10.4 AR CYP17A1
28 precocious puberty 10.3 GNRH1 LHCGR
29 nodular prostate 10.3 AR GNRH1
30 prostatic adenoma 10.2 AR SRD5A1
31 stuttering 10.2 CYP17A1 GNRH1
32 47, xxy 10.1 AR IGFBP3
33 gynecomastia 10.1 AR CGA
34 mammographic density 10.1 CYP17A1 IGFBP3
35 gonadal disease 10.1 AR GNRH1
36 female reproductive system disease 10.1 CYP17A1 GNRH1
37 central precocious puberty 10.1 GNRH1 IGFBP3
38 anovulation 10.0 CGA GNRH1
39 anorchia 10.0
40 hyperandrogenism 10.0 CYP17A1 GNRH1
41 varicocele 10.0 CGA GNRH1
42 amenorrhea 10.0 GNRH1 LHCGR
43 ovarian hyperstimulation syndrome 10.0 CGA GNRH1
44 reproductive system disease 10.0 AR GNRH1 LHCGR
45 alopecia, androgenetic, 1 9.9 AR SRD5A1 SRD5A2
46 microcephaly 9.7
47 hypogonadism 9.7
48 cerebritis 9.7
49 polydactyly 9.7
50 retinitis 9.7

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:

46
# 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 LHCGR AR CYP17A1 IGFBP3
5 liver/biliary system MP:0005370 9.65 AHR AR GNRH1 IGFBP3 LHCGR
6 renal/urinary system MP:0005367 9.63 AHR AR CYP17A1 GNRH1 IGFBP3 LHCGR
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

Drugs for Penis Agenesis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Testosterone undecanoate Approved, Investigational 5949-44-0
2
Testosterone Approved, Investigational 58-22-0 6013
3
Methyltestosterone Approved 58-18-4 6010
4
Testosterone enanthate Approved 315-37-7 9416
5 Anabolic Agents
6 Testosterone 17 beta-cypionate
7 Androgens
8 Hormone Antagonists
9 Hormones
10 Hormones, Hormone Substitutes, and Hormone Antagonists
11 Antineoplastic Agents, Hormonal

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Delayed Puberty in Boys; Clinical and Biochemical Characteristics and Effect of Testosterone Treatment Completed NCT02034487
2 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 29

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.78C> G (p.Tyr26Ter) single nucleotide variant Pathogenic rs104893667 GRCh38 Chromosome 2, 31580823: 31580823
3 SRD5A2 NM_000348.3(SRD5A2): c.680G> A (p.Arg227Gln) single nucleotide variant Pathogenic/Likely pathogenic rs9332964 GRCh37 Chromosome 2, 31754395: 31754395
4 SRD5A2 NM_000348.3(SRD5A2): c.680G> A (p.Arg227Gln) single nucleotide variant Pathogenic/Likely pathogenic rs9332964 GRCh38 Chromosome 2, 31529325: 31529325
5 46;XY;inv(6)(p22q13)dn inversion Pathogenic
6 46;XY;inv(2)(q11.2q33)dn inversion Likely pathogenic

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 23)
# 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 9.71 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 response to peptide hormone GO:0043434 9.61 GNRH1 SRD5A2
8 bone development GO:0060348 9.6 SRD5A1 SRD5A2
9 cellular response to cAMP GO:0071320 9.59 AHR SRD5A1
10 intracellular receptor signaling pathway GO:0030522 9.58 AHR AR
11 response to steroid hormone GO:0048545 9.58 GNRH1 SRD5A2
12 steroid biosynthetic process GO:0006694 9.58 CYP17A1 SRD5A1 SRD5A2
13 androgen metabolic process GO:0008209 9.56 SRD5A1 SRD5A2
14 hypothalamus development GO:0021854 9.55 SRD5A1 SRD5A2
15 response to testosterone GO:0033574 9.54 GNRH1 SRD5A1 SRD5A2
16 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.52 AR IGFBP3
17 cellular response to testosterone stimulus GO:0071394 9.49 AR SRD5A1
18 female genitalia development GO:0030540 9.46 SRD5A1 SRD5A2
19 response to follicle-stimulating hormone GO:0032354 9.43 SRD5A1 SRD5A2
20 male genitalia development GO:0030539 9.43 LHCGR SRD5A1 SRD5A2
21 androgen biosynthetic process GO:0006702 9.33 CYP17A1 SRD5A1 SRD5A2
22 progesterone metabolic process GO:0042448 9.13 CYP17A1 SRD5A1 SRD5A2
23 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 3-oxo-5-alpha-steroid 4-dehydrogenase activity GO:0003865 9.16 SRD5A1 SRD5A2
4 cholestenone 5-alpha-reductase activity GO:0047751 8.96 SRD5A1 SRD5A2
5 amide binding GO:0033218 8.62 SRD5A1 SRD5A2

Sources for Penis Agenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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