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PPSH
MCID: PSD021
MIFTS: 55

Pseudovaginal Perineoscrotal Hypospadias (PPSH)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Pseudovaginal Perineoscrotal Hypospadias

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MalaCards integrated aliases for Pseudovaginal Perineoscrotal Hypospadias:

Name: Pseudovaginal Perineoscrotal Hypospadias 56 74 52 25 58 73 13 71
Male Pseudohermaphroditism Due to 5-Alpha-Reductase Deficiency 56 52 25 73
Micropenis 73 29 54 6
Ppsh 56 52 25 73
Familial Incomplete Male Pseudohermaphroditism, Type 2 56 52 25
5-Alpha Reductase Deficiency 52 25 71
Steroid 5-Alpha-Reductase Deficiency 25 58
Microphallus 73 6
46,xy Disorder of Sex Development Due to 5-Alpha-Reductase 2 Deficiency 58
Familial Incomplete Male Pseudohermaphroditism Type 2 73
46,xy Dsd Due to 5-Alpha-Reductase 2 Deficiency 58
Hypospadias, Perineoscrotal, Pseudovaginal 39
5-Ard Deficiency 73
Mcrpens 73

Characteristics:

Orphanet epidemiological data:

58
46,xy disorder of sex development due to 5-alpha-reductase 2 deficiency
Inheritance: Autosomal recessive; Age of onset: Adolescent,Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

56
Miscellaneous:
uniparental disomy
xy karyotype
often reared as females until puberty
variable phenotype (range from completely female to males with mild undermasculinization)

Inheritance:
autosomal recessive


HPO:

31
pseudovaginal perineoscrotal hypospadias:
Inheritance autosomal recessive inheritance uniparental disomy


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Reproductive diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 264600
MeSH 43 D058490
ICD10 via Orphanet 33 E29.1
UMLS via Orphanet 72 C0268297 C3669122
Orphanet 58 ORPHA753
UMLS 71 C0268297 C3669122
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Summaries for Pseudovaginal Perineoscrotal Hypospadias

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Genetics Home Reference : 25 5-alpha reductase deficiency is a condition that affects male sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a hormone called dihydrotestosterone (DHT). DHT has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth. Many people with 5-alpha reductase deficiency are born with external genitalia that appear female. In other cases, the external genitalia do not look clearly male or clearly female (sometimes called ambiguous genitalia). Still other affected infants have genitalia that appear predominantly male, often with an unusually small penis (micropenis) and the urethra opening on the underside of the penis (hypospadias). During puberty, an increase in the levels of male sex hormones leads to the development of some secondary sex characteristics, such as increased muscle mass, deepening of the voice, development of pubic hair, and a growth spurt. The penis and scrotum (the sac of skin that holds the testes) grow larger. Unlike many men, people with 5-alpha reductase deficiency do not develop much facial or body hair. Most affected individuals are unable to have biological children without assisted reproduction. Children with 5-alpha reductase deficiency are often raised as girls. Some of these individuals adopt a male gender role in adolescence or early adulthood, while others adopt a female gender role.

MalaCards based summary : Pseudovaginal Perineoscrotal Hypospadias, also known as male pseudohermaphroditism due to 5-alpha-reductase deficiency, is related to androgen insensitivity, partial and hypogonadotropic hypogonadism. An important gene associated with Pseudovaginal Perineoscrotal Hypospadias 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 Methyltestosterone and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include testes, prostate and skin, and related phenotypes are cryptorchidism and abnormality of the endocrine system

NIH Rare Diseases : 52 5-alpha reductase deficiency is an inherited condition that primarily affects male sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome in each cell , and they have male gonads (testes ). Their bodies, however, do not produce enough of a hormone called dihydrotestosterone (DHT), which is critical for male sexual development. Most are born with external genitalia that appear female. In other cases, affected individuals may have ambiguous genitalia . Others may have genitalia that appear predominantly male, often with an unusually small penis (micropenis) and the urethra opening on the underside of the penis (hypospadias). This condition is caused by mutations in the SRD5A2 gene and is inherited in an autosomal recessive pattern.

OMIM : 56 Pseudovaginal perineoscrotal hypospadias is a form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty. The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum. (264600)

UniProtKB/Swiss-Prot : 73 Micropenis: A disease trait defined as a stretched penile length of less than 2.5 standard deviations below the mean for age. Traditionally, the term micropenis refers to a penis that is otherwise normally formed. The term microphallus is used when associated hypospadias is present. The mean stretched penile length in a full-term newborn male is 3.5 cm. Measurements of less than 2-2.5 cm in a full-term newborn male meet the definition of micropenis.
Pseudovaginal perineoscrotal hypospadias: A form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty. The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum.

Wikipedia : 74 Pseudovaginal perineoscrotal hypospadias (PPSH) refers to a configuration of the external genitalia of... more...

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Related Diseases for Pseudovaginal Perineoscrotal Hypospadias

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Diseases related to Pseudovaginal Perineoscrotal Hypospadias via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 160)
# Related Disease Score Top Affiliating Genes
1 androgen insensitivity, partial 32.3 SRD5A1 AR
2 hypogonadotropic hypogonadism 32.0 LHCGR GNRH1 AR
3 leydig cell hypoplasia 31.9 LHCGR CGA
4 kallmann syndrome 31.5 SRD5A2 GNRH1 CGA
5 hypospadias 30.5 SRD5A2 SRD5A1 LHCGR CYP17A1 AR
6 androgen insensitivity syndrome 30.0 SRD5A2 SRD5A1 CGA AR
7 hypogonadism 29.9 LHCGR GNRH1 CGA AR
8 amenorrhea 29.9 LHCGR GNRH1 CYP17A1
9 pseudohermaphroditism 29.9 SRD5A2 SRD5A1 LHCGR CYP17A1 AR
10 47, xxy 29.7 IGFBP3 AR
11 pituitary hormone deficiency, combined, 2 29.4 IGFBP3 GNRH1
12 complete androgen insensitivity syndrome 29.3 IGFBP3 CGA AR
13 gynecomastia 28.8 SRD5A2 SRD5A1 GNRH1 CGA AR
14 sex development disorder 28.7 SRD5A2 SRD5A1 LHCGR GNRH1 CYP17A1 AR
15 cryptorchidism, unilateral or bilateral 28.1 SRD5A2 SRD5A1 SMCHD1 LHCGR GNRH1 CYP17A1
16 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 12.7
17 microcephaly micropenis convulsions 12.3
18 idiopathic isolated micropenis 12.2
19 male pseudohermaphroditism intellectual disability syndrome, verloes type 11.7
20 charge syndrome 11.4
21 robinow syndrome 11.4
22 penis agenesis 11.2
23 spinal muscular atrophy, x-linked 2 11.2
24 testicular anomalies with or without congenital heart disease 11.2
25 leydig cell hypoplasia, type i 11.2
26 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 11.2
27 x-linked lissencephaly with abnormal genitalia 11.2
28 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency 11.1
29 microphthalmia, syndromic 3 11.1
30 ritscher-schinzel syndrome 1 11.1
31 17-beta hydroxysteroid dehydrogenase iii deficiency 11.1
32 mental retardation, x-linked, syndromic, nascimento type 11.1
33 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 11.1
34 congenital disorder of glycosylation, type ig 11.1
35 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 11.1
36 orofaciodigital syndrome xiv 11.1
37 chromosome 15q24 deletion syndrome 11.1
38 syndromic x-linked intellectual disability nascimento type 11.1
39 kleefstra syndrome 11.1
40 rab18 deficiency 11.1
41 pituitary stalk interruption syndrome 11.1
42 ring chromosome 7 11.1
43 10q26 deletion syndrome 11.1
44 hypogonadotropism 10.6
45 specific developmental disorder 10.5
46 anorchia 10.3
47 hypopituitarism 10.3
48 microcephaly 10.3
49 growth hormone deficiency 10.3
50 congenital hypogonadotropic hypogonadism 10.2

Graphical network of the top 20 diseases related to Pseudovaginal Perineoscrotal Hypospadias:



Diseases related to Pseudovaginal Perineoscrotal Hypospadias
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Symptoms & Phenotypes for Pseudovaginal Perineoscrotal Hypospadias

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Human phenotypes related to Pseudovaginal Perineoscrotal Hypospadias:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
2 abnormality of the endocrine system 58 31 hallmark (90%) Very frequent (99-80%) HP:0000818
3 bifid scrotum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000048
4 decreased fertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000144
5 scrotal hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000046
6 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
7 ambiguous genitalia, male 58 31 hallmark (90%) Very frequent (99-80%) HP:0000033
8 perineal hypospadias 58 31 hallmark (90%) Very frequent (99-80%) HP:0000051
9 urogenital sinus anomaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0100779
10 abnormality of metabolism/homeostasis 31 HP:0001939
11 micropenis 31 HP:0000054
12 abnormality of the voice 31 HP:0001608
13 ambiguous genitalia 58 Very frequent (99-80%)
14 abnormal hair morphology 31 HP:0001595

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Male:
cryptorchidism
wolffian differentiation
no mullerian structures
small prostate

Skin Nails Hair Hair:
scanty pubertal beard

Endocrine Features:
masculinization at puberty
no breast development or menstruation at puberty
plasma dihydrotestosterone (dht) is decreased
defective dht formation
plasma testosterone is normal or increased

Genitourinary External Genitalia Male:
bifid scrotum
ambiguous genitalia
perineal hypospadias
small penis
pseudohermaphroditism
more
Voice:
male pubertal voice change

Laboratory Abnormalities:
5-alpha-reductase-2 enzyme deficiency

Clinical features from OMIM:

264600

MGI Mouse Phenotypes related to Pseudovaginal Perineoscrotal Hypospadias:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.86 AHR AR CGA GNRH1 IGFBP3 LHCGR
2 growth/size/body region MP:0005378 9.76 AHR AR BBIP1 CGA CYP17A1 GNRH1
3 liver/biliary system MP:0005370 9.35 AHR AR GNRH1 IGFBP3 LHCGR
4 reproductive system MP:0005389 9.32 AHR AR BBIP1 CGA CYP17A1 GNRH1
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Drugs & Therapeutics for Pseudovaginal Perineoscrotal Hypospadias

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Drugs for Pseudovaginal Perineoscrotal Hypospadias (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methyltestosterone Approved 58-18-4 6010
2
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
3
Polyestradiol phosphate Approved 28014-46-2
4
Testosterone Approved, Experimental, Investigational 58-22-0, 481-30-1 6013 10204
5
Testosterone undecanoate Approved, Investigational 5949-44-0
6
Testosterone enanthate Approved 315-37-7 9416
7
Estrone Approved 53-16-7 5870
8 Estrogens
9 Estradiol 17 beta-cypionate
10 Contraceptive Agents
11 Hormone Antagonists
12 Anabolic Agents
13 Estradiol 3-benzoate
14 Hormones
15 Antineoplastic Agents, Hormonal
16 Testosterone 17 beta-cypionate
17 Androgens
18 Chorionic Gonadotropin
19 Estropipate 7280-37-7
20 Trisequens
21 Drospirenone and ethinyl estradiol combination

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Delayed Puberty in Boys; Clinical and Biochemical Characteristics and Effect of Testosterone Treatment - Retrospective Experience From a Single Tertiary Referral Centre 1990-2013 Completed NCT02034487
2 The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome) Recruiting NCT01601171
3 Using Anogenital Distance to Determinate Fetal Gender Beetween 18 et 41 Weeks of Gestation. Recruiting NCT03898440
4 Kallmann Syndrome in Finland Enrolling by invitation NCT00623116 Short withdrawal of testosterone, gonadotropins or estrogenic compounds (see below)
5 Establishing Nomograms of Penile Length and Width Throughout the Weeks of Pregnancy - A Prospective Descriptive Study. Withdrawn NCT01659528

Search NIH Clinical Center for Pseudovaginal Perineoscrotal Hypospadias

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Genetic Tests for Pseudovaginal Perineoscrotal Hypospadias

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Genetic tests related to Pseudovaginal Perineoscrotal Hypospadias:

# Genetic test Affiliating Genes
1 Micropenis 29
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Anatomical Context for Pseudovaginal Perineoscrotal Hypospadias

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MalaCards organs/tissues related to Pseudovaginal Perineoscrotal Hypospadias:

40
Testes, Prostate, Skin, Breast, Pituitary, Ovary, Heart
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Publications for Pseudovaginal Perineoscrotal Hypospadias

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Articles related to Pseudovaginal Perineoscrotal Hypospadias:

(show top 50) (show all 75)
# Title Authors PMID Year
1
Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients. 54 56 6
12843198 2003
2
Uniparental disomy in steroid 5alpha-reductase 2 deficiency. 56 6
10999800 2000
3
Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations. 56 6
9843052 1998
4
Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family. 56 6
9745434 1998
5
The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred. 56 6
9467575 1998
6
Molecular analysis of the 5 alpha-steroid reductase type 2 gene in a family with deficiency of the enzyme. 56 6
9066886 1997
7
Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2 deficiency. 56 6
8768837 1996
8
5 alpha-reductase-2 gene mutations in the Dominican Republic. 56 6
8626825 1996
9
Steroid 5 alpha-reductase 2 deficiency: virilization in early infancy may be due to partial function of mutant enzyme. 56 6
8706317 1996
10
A new deletion of the 5 alpha-reductase type 2 gene in a Turkish family with 5 alpha-reductase deficiency. 56 6
7554313 1995
11
Brief report: the molecular basis of steroid 5 alpha-reductase deficiency in a large Dominican kindred. 56 6
1406794 1992
12
Molecular genetics of steroid 5 alpha-reductase 2 deficiency. 56 6
1522235 1992
13
Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism. 56 6
1944596 1991
14
Androgens and the evolution of male-gender identity among male pseudohermaphrodites with 5alpha-reductase deficiency. 56 6
431680 1979
15
A cluster of male pseudohermaphrodites with 5 alpha-reductase deficiency in Papua New Guinea. 61 56
1831738 1991
16
Familial incomplete male pseudohermaphroditism, type 2. Decreased dihydrotestosterone formation in pseudovaginal perineoscrotal hypospadias. 61 56
4413434 1974
17
Pseudovaginal perineoscrotal hypospadias. 61 56
5013863 1972
18
Messenger ribonucleic acid levels of steroid 5 alpha-reductase 2 in human prostate predict the enzyme activity. 56
11158057 2001
19
Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II. 6
10898110 2000
20
Association of mis-sense substitution in SRD5A2 gene with prostate cancer in African-American and Hispanic men in Los Angeles, USA. 56
10501358 1999
21
5alpha-reductase activity in women with polycystic ovary syndrome. 56
10404813 1999
22
Paternity by intrauterine insemination with sperm from a man with 5alpha-reductase-2 deficiency. 56
9077378 1997
23
Tissue distribution and ontogeny of steroid 5 alpha-reductase isozyme expression. 56
7688765 1993
24
Genetic and pharmacological evidence for more than one human steroid 5 alpha-reductase. 56
1345916 1992
25
High dose androgen therapy in male pseudohermaphroditism due to 5 alpha-reductase deficiency and disorders of the androgen receptor. 56
6480833 1984
26
Familial male pseudohermaphroditism due to deficiency of 5 alpha-reductase. 56
7379320 1980
27
Steroid 5 alpha-reductase deficiency in a 65-year-old male pseudohermaphrodite: the natural history, ultrastructure of the testes, and evidence for inherited enzyme heterogeneity. 56
7350177 1980
28
Hereditary male pseudohermaphroditism associated with an unstable form of 5 alpha-reductase. 56
29056 1978
29
5-alpha-Reductase deficiency causing male pseudohermaphroditism. 56
718244 1978
30
5alpha-reductase activity of genital and nongenital skin fibroblasts from patients with 5alpha-reductase deficiency, androgen insensitivity, or unknown forms of male pseudohermaphroditism. 56
665726 1978
31
Male pseudohermaphroditism due to steroid 5-alpha-reductase deficiency. 56
835597 1977
32
Diminished 5alpha-reductase activity in extracts of fibroblasts cultured from patients with familial incomplete male pseudohermaphroditism, type 2. 56
240819 1975
33
Steroid 5alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism. 56
4432067 1974
34
Familial incomplete male pseudohermaphroditism, type 1. Evidence for androgen resistance and variable clinical manifestations in a family with the Reifenstein syndrome. 56
4821173 1974
35
Familial male hermaphroditism with delayed and partial masculinization. 56
4221283 1965
36
Genital intersexuality in three brothers, connected with consanguineous marriages in the three previous generations. 56
13292210 1955
37
Reduction-sensitive poly(ethylene glycol)-polypeptide conjugate micelles for highly efficient intracellular delivery and enhanced antitumor efficacy of hydroxycamptothecin. 61
31899896 2020
38
Implementing a Pediatric Perioperative Surgical Home Integrated Care Coordination Pathway for Laryngeal Cleft Repair. 61
30300182 2019
39
Implementation of a perioperative surgical home protocol for pediatric patients presenting for adenoidectomy. 61
28964298 2017
40
Making the pediatric perioperative surgical home come to life by leveraging existing health information technology. 61
28291130 2017
41
Late Diagnosis of 5-α-Reductase Type 2 Deficiency in an Adolescent Girl with Primary Amenorrhoea. 61
28690896 2017
42
Muscle Strength and Poststroke Hemiplegia: A Systematic Review of Muscle Strength Assessment and Muscle Strength Impairment. 61
27372002 2017
43
GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. 54
19567835 2009
44
A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family. 61
16098368 2005
45
Association of micropenis with Pro185Ala polymorphism of the gene for aryl hydrocarbon receptor repressor involved in dioxin signaling. 54
15758562 2005
46
Insulin-like growth factor I (IGF-I) and IGF-binding protein 3 as diagnostic markers of growth hormone deficiency in infancy. 54
15583470 2005
47
[Study of genic mutations of androgen receptor in hypospadias]. 54
15835798 2004
48
Mutation analysis of five candidate genes in Chinese patients with hypospadias. 54
15266301 2004
49
Testosterone enanthate therapy is effective and independent of SRD5A2 and AR gene polymorphisms in boys with micropenis. 54
15201804 2004
50
CYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding. 54
14504283 2003
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Variations for Pseudovaginal Perineoscrotal Hypospadias

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ClinVar genetic disease variations for Pseudovaginal Perineoscrotal Hypospadias:

6 (show top 50) (show all 82) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SRD5A2 NC_000002.12:g.(?_31524586)_(31580971_?)deldeletion Pathogenic 3336 2:31524586-31580971
2 SRD5A2 NM_000348.4(SRD5A2):c.736C>T (p.Arg246Trp)SNV Pathogenic 3337 rs121434244 2:31751295-31751295 2:31526225-31526225
3 SRD5A2 NM_000348.4(SRD5A2):c.468_470del (p.Met157del)deletion Pathogenic 3338 rs587776566 2:31756518-31756520 2:31531448-31531450
4 SRD5A2 NM_000348.4(SRD5A2):c.164T>A (p.Leu55Gln)SNV Pathogenic 3339 rs121434245 2:31805807-31805807 2:31580737-31580737
5 SRD5A2 NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp)SNV Pathogenic 3340 rs121434246 2:31758774-31758774 2:31533704-31533704
6 SRD5A2 NM_000348.4(SRD5A2):c.547G>A (p.Gly183Ser)SNV Pathogenic 3341 rs121434247 2:31756441-31756441 2:31531371-31531371
7 SRD5A2 NM_000348.4(SRD5A2):c.679C>T (p.Arg227Ter)SNV Pathogenic 3342 rs121434248 2:31754396-31754396 2:31529326-31529326
8 SRD5A2 NM_000348.4(SRD5A2):c.753del (p.Phe252fs)deletion Pathogenic 3343 rs587776567 2:31751278-31751278 2:31526208-31526208
9 SRD5A2 NM_000348.4(SRD5A2):c.635C>G (p.Pro212Arg)SNV Pathogenic 3348 rs121434252 2:31754440-31754440 2:31529370-31529370
10 SRD5A2 NM_000348.4(SRD5A2):c.591G>T (p.Glu197Asp)SNV Pathogenic 3349 rs121434253 2:31754484-31754484 2:31529414-31529414
11 SRD5A2 NM_000348.4(SRD5A2):c.78C>G (p.Tyr26Ter)SNV Pathogenic 3350 rs104893667 2:31805892-31805892 2:31580823-31580823
12 SRD5A2 NM_000348.4(SRD5A2):c.692A>G (p.His231Arg)SNV Pathogenic 3346 rs121434251 2:31754383-31754383 2:31529313-31529313
13 SRD5A2 NM_000348.4(SRD5A2):c.307C>T (p.Arg103Ter)SNV Pathogenic 74593 rs267599353 2:31758811-31758811 2:31533741-31533741
14 46;XY;inv(6)(p22q13)dninversion Pathogenic 267941
15 SRD5A2 NM_000348.4(SRD5A2):c.211C>T (p.Gln71Ter)SNV Pathogenic 403724 rs1060499834 2:31805760-31805760 2:31580690-31580690
16 SMCHD1 NM_015295.2(SMCHD1):c.511T>G (p.Phe171Val)SNV Pathogenic 431465 rs1135402740 18:2674017-2674017 18:2674018-2674018
17 SRD5A2 NM_000348.4(SRD5A2):c.16C>T (p.Gln6Ter)SNV Pathogenic 436859 rs9332960 2:31805954-31805954 2:31580885-31580885
18 SRD5A2 NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg)SNV Pathogenic 372519 rs368386747 2:31758741-31758741 2:31533671-31533671
19 SRD5A2 NM_000348.4(SRD5A2):c.704A>T (p.Tyr235Phe)SNV Pathogenic 459644 rs772283403 2:31751327-31751327 2:31526257-31526257
20 SRD5A2 NM_000348.4(SRD5A2):c.607G>A (p.Gly203Ser)SNV Pathogenic 459640 rs9332961 2:31754468-31754468 2:31529398-31529398
21 SRD5A2 NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln)SNV Pathogenic 459645 rs9332967 2:31751294-31751294 2:31526224-31526224
22 SRD5A2 NM_000348.4(SRD5A2):c.578A>G (p.Asn193Ser)SNV Pathogenic 459638 rs763296857 2:31754497-31754497 2:31529427-31529427
23 SRD5A2 NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys)SNV Pathogenic 492905 rs756853742 2:31754477-31754477 2:31529407-31529407
24 SRD5A2 NM_000348.4(SRD5A2):c.282-2A>GSNV Pathogenic 492900 rs1340425455 2:31758838-31758838 2:31533768-31533768
25 SRD5A2 NM_000348.4(SRD5A2):c.271T>G (p.Tyr91Asp)SNV Pathogenic 492898 rs201175894 2:31805700-31805700 2:31580630-31580630
26 SRD5A2 NM_000348.4(SRD5A2):c.271T>C (p.Tyr91His)SNV Pathogenic 492899 rs201175894 2:31805700-31805700 2:31580630-31580630
27 SRD5A2 NM_000348.4(SRD5A2):c.205G>T (p.Ala69Ser)SNV Pathogenic 492897 rs1553329443 2:31805766-31805766 2:31580696-31580696
28 SRD5A2 NM_000348.4(SRD5A2):c.169G>C (p.Glu57Gln)SNV Pathogenic 492896 rs750444774 2:31805802-31805802 2:31580732-31580732
29 SRD5A2 NM_000348.4(SRD5A2):c.59T>C (p.Leu20Pro)SNV Pathogenic 492895 rs761824859 2:31805911-31805911 2:31580842-31580842
30 SRD5A2 NM_000348.4(SRD5A2):c.620C>A (p.Ala207Asp)SNV Pathogenic 529238 rs767564684 2:31754455-31754455 2:31529385-31529385
31 SRD5A2 NM_000348.4(SRD5A2):c.218del (p.Leu73fs)deletion Pathogenic 548143 rs1553329427 2:31805753-31805753 2:31580683-31580683
32 SRD5A2 NM_000348.4(SRD5A2):c.586G>C (p.Gly196Arg)SNV Pathogenic 548153 rs121434250 2:31754489-31754489 2:31529419-31529419
33 SRD5A2 NM_000348.4(SRD5A2):c.729del (p.Lys244fs)deletion Pathogenic 549757 rs1553323033 2:31751302-31751302 2:31526232-31526232
34 SRD5A2 NM_000348.4(SRD5A2):c.534C>A (p.Tyr178Ter)SNV Pathogenic 492902 rs1200261940 2:31756454-31756454 2:31531384-31531384
35 SRD5A2 NC_000002.11:g.31757164_31770106del12943insCAindel Pathogenic 562141 2:31757164-31770106 2:31532094-31545036
36 SRD5A2 GRCh37/hg19 2p23.1(chr2:31758677-31805700)copy number loss Pathogenic 625673 2:31758677-31805700
37 BBIP1 NM_001195307.1(BBIP1):c.38-1015C>TSNV Pathogenic 626905 10:112661299-112661299 10:110901541-110901541
38 SRD5A2 NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)SNV Pathogenic/Likely pathogenic 3351 rs9332964 2:31754395-31754395 2:31529325-31529325
39 SRD5A2 NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr)SNV Pathogenic/Likely pathogenic 3344 rs121434249 2:31754393-31754393 2:31529323-31529323
40 46;XY;inv(2)(q11.2q33)dninversion Likely pathogenic 268014
41 SRD5A2 NM_000348.4(SRD5A2):c.548-2A>CSNV Likely pathogenic 97408 rs61750397 2:31754529-31754529 2:31529459-31529459
42 SRD5A2 NM_000348.4(SRD5A2):c.683C>T (p.Ala228Val)SNV Likely pathogenic 459642 rs1553323488 2:31754392-31754392 2:31529322-31529322
43 SRD5A2 NM_000348.4(SRD5A2):c.725A>G (p.Tyr242Cys)SNV Likely pathogenic 440485 rs1553323036 2:31751306-31751306 2:31526236-31526236
44 SRD5A2 NC_000002.11:g.(?_31756421)_(31756562_?)deldeletion Likely pathogenic 647477 2:31756421-31756562 2:31531351-31531492
45 SRD5A2 NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser)SNV Conflicting interpretations of pathogenicity 3345 rs121434250 2:31754489-31754489 2:31529419-31529419
46 SRD5A2 NM_000348.4(SRD5A2):c.*1356A>CSNV Uncertain significance 97418 rs28383087 2:31749910-31749910 2:31524840-31524840
47 KISS1R NM_032551.5(KISS1R):c.890G>T (p.Arg297Leu)SNV Uncertain significance 281944 rs144670595 19:920441-920441 19:920441-920441
48 SRD5A2 NM_000348.4(SRD5A2):c.*1151_*1152dupduplication Uncertain significance 335804 rs74702388 2:31750113-31750114 2:31525043-31525044
49 SRD5A2 NM_000348.4(SRD5A2):c.*686G>TSNV Uncertain significance 335808 rs886055950 2:31750580-31750580 2:31525510-31525510
50 SRD5A2 NM_000348.4(SRD5A2):c.*90_*91delinsATATATATATATATATATATATATATATATATATATindel Uncertain significance 335812 rs886055953 2:31751175-31751176 2:31526105-31526106

UniProtKB/Swiss-Prot genetic disease variations for Pseudovaginal Perineoscrotal Hypospadias:

73 (show all 21)
# Symbol AA change Variation ID SNP ID
1 SRD5A2 p.Arg246Trp VAR_005609 rs121434244
2 SRD5A2 p.Leu55Gln VAR_013105 rs121434245
3 SRD5A2 p.Gly115Asp VAR_013106 rs121434246
4 SRD5A2 p.Gly183Ser VAR_013108 rs121434247
5 SRD5A2 p.Gly196Ser VAR_013109 rs121434250
6 SRD5A2 p.Glu197Asp VAR_013110 rs121434253
7 SRD5A2 p.Pro212Arg VAR_013111 rs121434252
8 SRD5A2 p.Ala228Thr VAR_013112 rs121434249
9 SRD5A2 p.His231Arg VAR_013113 rs121434251
10 SRD5A2 p.Gly85Asp VAR_013130 rs135126939
11 SRD5A2 p.Glu200Lys VAR_013132 rs756853742
12 SRD5A2 p.Ser245Tyr VAR_013133 rs145712014
13 SRD5A2 p.Arg246Gln VAR_013134 rs9332967
14 SRD5A2 p.Arg145Trp VAR_025851 rs759561106
15 SRD5A2 p.Pro181Leu VAR_025852 rs105751782
16 SRD5A2 p.Tyr235Phe VAR_025853 rs772283403
17 SRD5A2 p.Gly123Arg VAR_025854 rs133124932
18 SRD5A2 p.Gln126Arg VAR_025855 rs368386747
19 SRD5A2 p.Gly158Arg VAR_025856
20 SRD5A2 p.Ala207Asp VAR_025857 rs767564684
21 SRD5A2 p.Arg227Gln VAR_037586 rs9332964

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Expression for Pseudovaginal Perineoscrotal Hypospadias

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Search GEO for disease gene expression data for Pseudovaginal Perineoscrotal Hypospadias.
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Pathways for Pseudovaginal Perineoscrotal Hypospadias

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Pathways related to Pseudovaginal Perineoscrotal Hypospadias according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Prolactin Signaling Pathway 1 36
Show member pathways
 12.08 LHCGR CYP17A1 CGA
2
Transcription Androgen Receptor nuclear signaling 22
Show member pathways
 11.74 SRD5A2 SRD5A1 AR
3
Steroid hormone biosynthesis 36
Show member pathways
 11.32 SRD5A2 SRD5A1 CYP17A1
4
Metabolism of steroid hormones 65
Show member pathways
 11.2 SRD5A2 SRD5A1 CYP17A1 CGA
5
Ovarian steroidogenesis 36
11.12 LHCGR CYP17A1 CGA
6
Transcription_Role of VDR in regulation of genes involved in osteoporosis 22
11.09 CGA AR
7
superpathway of steroid hormone biosynthesis 1
Show member pathways
 10.67 SRD5A2 SRD5A1 CYP17A1
8
Nongenotropic Androgen signaling 1
10.62 GNRH1 AR
9
Hormone ligand-binding receptors 65
9.91 LHCGR GNRH1 CGA
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GO Terms for Pseudovaginal Perineoscrotal Hypospadias

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Cellular components related to Pseudovaginal Perineoscrotal Hypospadias 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 Pseudovaginal Perineoscrotal Hypospadias according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 9.71 GNRH1 AR AHR
2 cell-cell signaling GO:0007267 9.69 SRD5A2 GNRH1 AR
3 steroid metabolic process GO:0008202 9.63 SRD5A2 SRD5A1 CYP17A1
4 male gonad development GO:0008584 9.56 SRD5A2 SRD5A1 LHCGR AR
5 intracellular receptor signaling pathway GO:0030522 9.52 AR AHR
6 steroid biosynthetic process GO:0006694 9.5 SRD5A2 SRD5A1 CYP17A1
7 response to testosterone GO:0033574 9.49 SRD5A1 GNRH1
8 androgen metabolic process GO:0008209 9.48 SRD5A2 SRD5A1
9 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.43 IGFBP3 AR
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 9.33 SRD5A2 SRD5A1 LHCGR
13 androgen biosynthetic process GO:0006702 9.13 SRD5A2 SRD5A1 CYP17A1
14 sex differentiation GO:0007548 8.92 SRD5A2 SRD5A1 CYP17A1 AR

Molecular functions related to Pseudovaginal Perineoscrotal Hypospadias 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 cholestenone 5-alpha-reductase activity GO:0047751 8.96 SRD5A2 SRD5A1
4 3-oxo-5-alpha-steroid 4-dehydrogenase activity GO:0003865 8.62 SRD5A2 SRD5A1
Sources

Sources for Pseudovaginal Perineoscrotal Hypospadias

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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