MCID: PNS014
MIFTS: 36

Penis Agenesis

Categories: Rare diseases, Reproductive diseases

Aliases & Classifications for Penis Agenesis

MalaCards integrated aliases for Penis Agenesis:

Name: Penis Agenesis 20
Micropenis 20 29 54 6
Agenesis of the Penis 20
Penis Agenesia 20

Classifications:



Summaries for Penis Agenesis

MalaCards based summary : Penis Agenesis, also known as micropenis, is related to leydig cell hypoplasia and androgen insensitivity, partial. 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 Translation Non-genomic (rapid) action of Androgen Receptor. Affiliated tissues include pituitary, testes and testis, and related phenotypes are behavior/neurological 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 153)
# Related Disease Score Top Affiliating Genes
1 leydig cell hypoplasia 31.5 LHCGR CGA
2 androgen insensitivity, partial 31.3 SRD5A1 AR
3 hypogonadotropic hypogonadism 31.1 LHCGR GNRH1 AR
4 kallmann syndrome 30.7 SRD5A2 GNRH1 CGA
5 hypogonadism 30.4 LHCGR GNRH1 AR
6 androgen insensitivity syndrome 29.9 SRD5A2 SRD5A1 IGFBP3 CYP17A1 CGA AR
7 hypospadias 29.7 SRD5A2 SRD5A1 LHCGR CYP17A1 AR
8 infertility 29.5 LHCGR GNRH1 AR
9 pseudohermaphroditism 29.4 SRD5A2 SRD5A1 LHCGR CYP17A1 AR
10 complete androgen insensitivity syndrome 29.3 IGFBP3 CGA AR
11 gynecomastia 28.9 SRD5A2 SRD5A1 GNRH1 CGA AR
12 cryptorchidism, unilateral or bilateral 28.8 SRD5A2 SRD5A1 LHCGR GNRH1 CYP17A1 CGA
13 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.5
14 pseudovaginal perineoscrotal hypospadias 11.3
15 penile agenesis 11.2
16 microcephaly micropenis convulsions 11.1
17 46,xy sex reversal 11 11.0
18 leydig cell hypoplasia, type i 11.0
19 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 11.0
20 x-linked lissencephaly with abnormal genitalia 11.0
21 idiopathic isolated micropenis 10.9
22 charge syndrome 10.9
23 robinow syndrome 10.9
24 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency 10.8
25 microphthalmia, syndromic 3 10.8
26 ritscher-schinzel syndrome 1 10.8
27 17-beta hydroxysteroid dehydrogenase iii deficiency 10.8
28 mental retardation, x-linked, syndromic, nascimento type 10.8
29 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 10.8
30 congenital disorder of glycosylation, type ig 10.8
31 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 10.8
32 orofaciodigital syndrome xiv 10.8
33 hydrops, lactic acidosis, and sideroblastic anemia 10.8
34 chromosome 15q24 deletion syndrome 10.8
35 syndromic x-linked intellectual disability nascimento type 10.8
36 kleefstra syndrome 10.8
37 rab18 deficiency 10.8
38 pituitary stalk interruption syndrome 10.8
39 ring chromosome 7 10.8
40 10q26 deletion syndrome 10.8
41 anorchia 10.2
42 hypopituitarism 10.1
43 cortisone reductase deficiency 10.1 SRD5A2 SRD5A1
44 gender identity disorder 10.1 CYP17A1 AR
45 microcephaly 10.1
46 precocious puberty 10.1 LHCGR GNRH1
47 prostatic adenoma 10.1 SRD5A1 AR
48 steroid inherited metabolic disorder 10.0 GNRH1 CYP17A1
49 hypogonadotropic hypogonadism 7 with or without anosmia 10.0 GNRH1 BBIP1
50 testicular germ cell cancer 10.0 LHCGR AR

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 behavior/neurological MP:0005386 9.97 AHR AR BBIP1 CYP17A1 FIG4 IGFBP3
2 growth/size/body region MP:0005378 9.96 AHR AR BBIP1 CGA CYP17A1 FIG4
3 endocrine/exocrine gland MP:0005379 9.92 AHR AR CGA GNRH1 IGFBP3 LHCGR
4 integument MP:0010771 9.63 AHR AR FIG4 GNRH1 IGFBP3 SRD5A2
5 nervous system MP:0003631 9.56 AHR AR BBIP1 CGA FIG4 GNRH1
6 reproductive system MP:0005389 9.28 AHR AR BBIP1 CGA CYP17A1 GNRH1

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 - A Prospective Descriptive Study. 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

MalaCards organs/tissues related to Penis Agenesis:

40
Pituitary, Testes, Testis, Prostate, Olfactory Bulb, Hypothalamus, Tongue

Publications for Penis Agenesis

Articles related to Penis Agenesis:

(show top 50) (show all 666)
# Title Authors PMID Year
1
Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients. 61 54 6
12843198 2003
2
Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II. 6
10898110 2000
3
GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. 61 54
19567835 2009
4
Association of micropenis with Pro185Ala polymorphism of the gene for aryl hydrocarbon receptor repressor involved in dioxin signaling. 61 54
15758562 2005
5
Insulin-like growth factor I (IGF-I) and IGF-binding protein 3 as diagnostic markers of growth hormone deficiency in infancy. 61 54
15583470 2005
6
[Study of genic mutations of androgen receptor in hypospadias]. 61 54
15835798 2004
7
Mutation analysis of five candidate genes in Chinese patients with hypospadias. 54 61
15266301 2004
8
Testosterone enanthate therapy is effective and independent of SRD5A2 and AR gene polymorphisms in boys with micropenis. 61 54
15201804 2004
9
CYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding. 61 54
14504283 2003
10
Micropenis with testicular regression, low LH levels, and poor androgen and HCG responses: a distinct syndrome? 61 54
11992480 2002
11
Micropenis and the AR Gene: mutation and CAG repeat-length analysis. 61 54
11701709 2001
12
Recessive Robinow syndrome: with emphasis on endocrine functions. 54 61
9826209 1998
13
Luteinizing hormone resistance syndromes. 54 61
9238276 1997
14
5 alpha-reductase deficiency in patients with micropenis. 54 61
9061573 1997
15
5 alpha-reductase deficiency without hypospadias. 61 54
2248513 1990
16
Clinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi Syndrome. 61
33565750 2021
17
How Far Should We Explore Hypospadias? Next-generation Sequencing Applied to a Large Cohort of Hypospadiac Patients. 61
33468338 2021
18
Spectrum of external genital anomalies in disorders of Sex Development at Children Hospital & Institute of Child Health, Lahore, Pakistan. 61
33437285 2021
19
46,XY DSD and limb abnormalities in a female with a de novo LHX9 missense mutation. 61
32949097 2020
20
A nonsense variant in FGFR1: a rare cause of combined pituitary hormone deficiency. 61
32853167 2020
21
Reproduction Function in Male Patients With Bardet Biedl Syndrome. 61
32835378 2020
22
Stretched penile length and anogenital distance in Egyptian boys aged one month to five years. 61
33221178 2020
23
Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability. 61
32715656 2020
24
Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome. 61
32783357 2020
25
Eight rare urinary disorders in a patient with Kallmann syndrome: A case report. 61
33120852 2020
26
Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the GLI2 Gene 61
31782289 2020
27
Sonographic measure techniques of fetal penile length. 61
32810976 2020
28
Surgical creation of microphallus for cis-gender female desire for intersex condition. 61
32864090 2020
29
Total Phallic Reconstruction in the Genetic Male. 61
32800729 2020
30
[Microsurgical penile reconstruction in case of intersexuality and after penis carcinoma]. 61
32428939 2020
31
Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature. 61
32690052 2020
32
[Aphallia - report of two cases]. 61
32472223 2020
33
Sexual and developmental aspects of 49, XXXXY Syndrome: A case report. 61
32725928 2020
34
Renpenning Syndrome in a Turkish Patient: de novo Variant c.607C>T in PACS1 and Hypogammaglobulinemia Phenotype. 61
32903913 2020
35
Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1. 61
32381089 2020
36
Review of penile reconstructive techniques. 61
32152468 2020
37
Pituitary stalk interruption syndrome is characterized by genetic heterogeneity. 61
33270637 2020
38
Prenatal diagnosis and neonatal phenotype of a de novo microdeletion of 17p11.2p12 associated with Smith-Magenis syndrome and external genital defects. 61
32661203 2020
39
Posttranslational Modification Defects in Fibroblast Growth Factor Receptor 1 as a Reason for Normosmic Isolated Hypogonadotropic Hypogonadism. 61
33299522 2020
40
A Comparison Between Hyaluronic Acid and Polylactic Acid Filler Injections for Temporary Penile Augmentation in Patients with Small Penis Syndrome: A Multicenter, Patient/Evaluator-Blind, Comparative, Randomized Trial. 61
31735613 2020
41
Primary Partial Empty Sella presenting with Prepubertal Hypogonadotropic Hypogonadism: A Case Report. 61
33442193 2020
42
Undervirilized male infant with in utero exposure to maternal use of high dose antifungal therapy. 61
32944019 2020
43
Stretched penile length and total serum testosterone in term male neonates. 61
33244324 2020
44
[Association between karyotype 47XYY and 5-alpha reductase deficiency revealed by micropenis: about a case and literature review]. 61
32774624 2020
45
Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability. 61
31687266 2019
46
Prenatal imaging of genital defects: clinical spectrum and predictive factors for severe forms. 61
30776193 2019
47
Normative data on penile and anogenital measurements of term male infants in Sagamu, Nigeria. 61
31162733 2019
48
Fate of the micropenis and constitutional small penis: do they grow to normalcy in puberty? 61
31447312 2019
49
Laurence-Moon-Bardet-Biedl Syndrome: A Case Report. 61
31696011 2019
50
Case report of 49,XXXXY syndrome with cleft palate, diabetes, hypothyroidism, and cataracts. 61
31574874 2019

Variations for Penis Agenesis

ClinVar genetic disease variations for Penis Agenesis:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SRD5A2 NM_000348.4(SRD5A2):c.78C>G (p.Tyr26Ter) SNV Pathogenic 3350 rs104893667 2:31805892-31805892 2:31580823-31580823
2 BBIP1 NM_001195307.1(BBIP1):c.38-1015C>T SNV Pathogenic 626905 rs1590746439 10:112661299-112661299 10:110901541-110901541
3 SRD5A2 NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) SNV Pathogenic 3351 rs9332964 2:31754395-31754395 2:31529325-31529325
4 FIG4 NM_014845.6(FIG4):c.2432C>G (p.Ser811Ter) SNV Likely pathogenic 978468 6:110113840-110113840 6:109792637-109792637

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 organelle membrane GO:0031090 8.8 SRD5A2 SRD5A1 CYP17A1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.69 SRD5A2 GNRH1 AR
2 steroid metabolic process GO:0008202 9.63 SRD5A2 SRD5A1 CYP17A1
3 intracellular receptor signaling pathway GO:0030522 9.52 AR AHR
4 steroid biosynthetic process GO:0006694 9.5 SRD5A2 SRD5A1 CYP17A1
5 response to testosterone GO:0033574 9.49 SRD5A1 GNRH1
6 androgen metabolic process GO:0008209 9.48 SRD5A2 SRD5A1
7 male gonad development GO:0008584 9.46 SRD5A2 SRD5A1 LHCGR AR
8 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.43 IGFBP3 AR
9 sex differentiation GO:0007548 9.43 SRD5A2 SRD5A1 CYP17A1
10 progesterone metabolic process GO:0042448 9.4 SRD5A1 CYP17A1
11 cellular response to testosterone stimulus GO:0071394 9.37 SRD5A1 AR
12 male genitalia development GO:0030539 9.13 SRD5A2 SRD5A1 LHCGR
13 androgen biosynthetic process GO:0006702 8.8 SRD5A2 SRD5A1 CYP17A1

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 9.26 AR AHR
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.16 SRD5A2 SRD5A1
3 3-oxo-5-alpha-steroid 4-dehydrogenase activity GO:0003865 8.96 SRD5A2 SRD5A1
4 cholestenone 5-alpha-reductase activity GO:0047751 8.62 SRD5A2 SRD5A1

Sources for Penis Agenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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