PPSH
MCID: PSD021
MIFTS: 54

Pseudovaginal Perineoscrotal Hypospadias (PPSH)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Pseudovaginal Perineoscrotal Hypospadias

MalaCards integrated aliases for Pseudovaginal Perineoscrotal Hypospadias:

Name: Pseudovaginal Perineoscrotal Hypospadias 57 76 59 75 13 73
Microphallus 75 29 6
Male Pseudohermaphroditism Due to 5-Alpha-Reductase Deficiency 57 75
Ppsh 57 75
46,xy Disorder of Sex Development Due to 5-Alpha-Reductase 2 Deficiency 59
Familial Incomplete Male Pseudohermaphroditism, Type 2 57
Familial Incomplete Male Pseudohermaphroditism Type 2 75
46,xy Dsd Due to 5-Alpha-Reductase 2 Deficiency 59
Hypospadias, Perineoscrotal, Pseudovaginal 40
Steroid 5-Alpha-Reductase Deficiency 59
5-Alpha Reductase Deficiency 73
5-Ard Deficiency 75
Micropenis 75
Mcrpens 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

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


HPO:

32
pseudovaginal perineoscrotal hypospadias:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 264600
Orphanet 59 ORPHA753
UMLS via Orphanet 74 C3669122 C0268297
ICD10 via Orphanet 34 Q56.1
MeSH 44 D058490

Summaries for Pseudovaginal Perineoscrotal Hypospadias

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Pseudovaginal Perineoscrotal Hypospadias, also known as microphallus, is related to 5-alpha reductase deficiency and androgen insensitivity, partial. 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. Affiliated tissues include prostate, heart and pituitary, and related phenotypes are cryptorchidism and abnormality of the endocrine system

OMIM : 57 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)

Wikipedia : 76 Pseudovaginal perineoscrotal hypospadias (PPSH) refers to a configuration of the external genitalia of... more...

Related Diseases for Pseudovaginal Perineoscrotal Hypospadias

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

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 5-alpha reductase deficiency 33.4 SRD5A1 SRD5A2
2 androgen insensitivity, partial 32.1 AR SRD5A1
3 androgen insensitivity syndrome 31.9 AR CGA SRD5A2
4 leydig cell hypoplasia 31.6 CGA LHCGR
5 hypospadias 30.8 AR CYP17A1 LHCGR SRD5A1 SRD5A2
6 pseudohermaphroditism 30.5 AR CYP17A1 LHCGR SRD5A2
7 hypopituitarism 29.7 GNRH1 IGFBP3
8 robinow syndrome 29.6 CGA GNRH1
9 complete androgen insensitivity syndrome 29.6 AR CGA IGFBP3
10 cryptorchidism, unilateral or bilateral 29.5 AR CGA GNRH1 SMCHD1
11 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 12.6
12 isolated micropenis 12.2
13 microcephaly micropenis convulsions 12.1
14 penis agenesis 11.8
15 male pseudohermaphroditism intellectual disability syndrome, verloes type 11.5
16 hypogonadotropic hypogonadism 11.3
17 leydig cell hypoplasia, type i 11.1
18 spinal muscular atrophy, x-linked 2 11.1
19 testicular anomalies with or without congenital heart disease 11.1
20 solitary median maxillary central incisor 10.9
21 ritscher-schinzel syndrome 1 10.9
22 mental retardation, x-linked, syndromic, nascimento type 10.9
23 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 10.9
24 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.9
25 orofaciodigital syndrome xiv 10.9
26 kleefstra syndrome 10.9
27 syndromic x-linked intellectual disability nascimento type 10.9
28 pituitary stalk interruption syndrome 10.9
29 ring chromosome 7 10.9
30 x-linked lissencephaly with abnormal genitalia 10.9
31 hypogonadism 10.3
32 anorchia 10.2
33 growth hormone deficiency 10.2
34 leydig cell tumor 10.1 CYP17A1 LHCGR
35 transsexualism 10.1 AR CYP17A1
36 precocious puberty 10.1 GNRH1 LHCGR
37 nodular prostate 10.1 AR GNRH1
38 47, xxy 10.0 AR IGFBP3
39 gynecomastia 10.0 AR CGA
40 mammographic density 10.0 CYP17A1 IGFBP3
41 microcephaly 10.0
42 hyperandrogenism 10.0 CYP17A1 GNRH1
43 anovulation 10.0 CGA GNRH1
44 ectopic pregnancy 10.0 CGA GNRH1
45 amenorrhea 10.0 GNRH1 LHCGR
46 pallister-hall syndrome 10.0
47 silver-russell syndrome 10.0
48 spastic paraplegia 17, autosomal dominant 10.0
49 sickle cell disease 10.0
50 hermaphroditism 10.0 AR CGA SRD5A2

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



Diseases related to Pseudovaginal Perineoscrotal Hypospadias

Symptoms & Phenotypes for Pseudovaginal Perineoscrotal Hypospadias

Symptoms via clinical synopsis from OMIM:

57
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:
ambiguous genitalia
bifid scrotum
perineal hypospadias
small penis
pseudohermaphroditism
more
Voice:
male pubertal voice change

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


Clinical features from OMIM:

264600

Human phenotypes related to Pseudovaginal Perineoscrotal Hypospadias:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
2 abnormality of the endocrine system 59 32 hallmark (90%) Very frequent (99-80%) HP:0000818
3 decreased fertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000144
4 hypoplasia of penis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008736
5 bifid scrotum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000048
6 scrotal hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000046
7 ambiguous genitalia, male 59 32 hallmark (90%) Very frequent (99-80%) HP:0000033
8 perineal hypospadias 59 32 hallmark (90%) Very frequent (99-80%) HP:0000051
9 urogenital sinus anomaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0100779
10 abnormality of metabolism/homeostasis 32 HP:0001939
11 abnormality of the voice 32 HP:0001608
12 ambiguous genitalia 59 Very frequent (99-80%)
13 abnormality of the hair 32 HP:0001595
14 micropenis 32 HP:0000054

MGI Mouse Phenotypes related to Pseudovaginal Perineoscrotal Hypospadias:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.97 AHR AR CGA GNRH1 IGFBP3 LHCGR
2 growth/size/body region MP:0005378 9.87 AHR AR CGA CYP17A1 GNRH1 IGFBP3
3 liver/biliary system MP:0005370 9.65 AHR AR GNRH1 IGFBP3 LHCGR
4 renal/urinary system MP:0005367 9.63 AHR AR CYP17A1 GNRH1 IGFBP3 LHCGR
5 reproductive system MP:0005389 9.61 AHR AR CGA CYP17A1 GNRH1 LHCGR
6 skeleton MP:0005390 9.1 AHR AR CYP17A1 GNRH1 IGFBP3 LHCGR

Drugs & Therapeutics for Pseudovaginal Perineoscrotal Hypospadias

Search Clinical Trials , NIH Clinical Center for Pseudovaginal Perineoscrotal Hypospadias

Genetic Tests for Pseudovaginal Perineoscrotal Hypospadias

Genetic tests related to Pseudovaginal Perineoscrotal Hypospadias:

# Genetic test Affiliating Genes
1 Microphallus 29

Anatomical Context for Pseudovaginal Perineoscrotal Hypospadias

MalaCards organs/tissues related to Pseudovaginal Perineoscrotal Hypospadias:

41
Prostate, Heart, Pituitary, Brain, Testes, Cortex, Adrenal Cortex

Publications for Pseudovaginal Perineoscrotal Hypospadias

Articles related to Pseudovaginal Perineoscrotal Hypospadias:

(show top 50) (show all 75)
# Title Authors Year
1
Microphallus ochotensis sp. nov. (Digenea, Microphallidae) and relative merits of two-host microphallid life cycles. ( 29397437 )
2018
2
Behavioral analysis of Microphallus turgidus cercariae in relation to microhabitat of two host grass shrimp species (Palaemonetes spp.). ( 28117302 )
2017
3
De Novo Transcriptome Characterization of a Sterilizing Trematode Parasite (Microphallus sp.) from Two Species of New Zealand Snails. ( 28122948 )
2017
4
Influence of a Trematode Parasite (Microphallus turgidus) on Grass Shrimp ( Palaemonetes pugio ) Response to Refuge and Predator Presence. ( 27560362 )
2016
5
Morphological and molecular data for three species of the Microphallidae (Trematoda: Digenea) in Australia, including the first descriptions of the cercariae of Maritrema brevisacciferum Shimazu et Pearson, 1991 and Microphallus minutus Johnston, 1948. ( 26447840 )
2015
6
Optimization of culture conditions for in vitro fertilization and reproduction of Microphallus turgidus (Trematoda: Microphallidae). ( 21348599 )
2011
7
Morphological and molecular study of Microphallus primas (Digenea: Microphallidae) metacercaria, infecting the shore crab Carcinus maenas from northern Portugal. ( 21539138 )
2011
8
Index of suspicion. Case 1: round opacity on chest radiograph, cough, and fever in a child. Case 2: groin pain and limp in a 10-year-old. Case 3: focal neurologic signs in the presence of sickle cell disease. Case 4: hypoglycemia and microphallus in an infant. ( 21885663 )
2011
9
Surveys of Gynaecotyla squatarolae and Microphallus koreana (Digenea: Microphallidae) metacercariae in two species of estuarine crabs in western coastal areas, Korea. ( 20333292 )
2010
10
In vitro cultivation of Microphallus turgidus (Trematoda: Microphallidae) from metacercaria to ovigerous adult with continuation of the life cycle in the laboratory. ( 20049996 )
2009
11
Microphallus koreana n. sp. (Trematoda: Microphallidae) transmitted by a marine crab, Macrophthalmus dilatatus. ( 18830056 )
2008
12
New data on Microphallus breviatus Deblock & Maillard, 1975 (Microphallidae: Digenea) with emphasis on the evolution of dixenous life cycles of microphallids. ( 17120045 )
2007
13
A study of the mechanisms by which the cercariae of Microphallus primas (Jag, 1909) Stunkard, 1957 penetrate the shore crab, Carcinus maenas (L). ( 16174417 )
2005
14
Effects of Microphallus turgidus (Trematoda: Microphallidae) on the predation, behavior, and swimming stamina of the grass shrimp Palaemonetes pugio. ( 15270083 )
2004
15
A new species of Microphallus (Trematoda: Microphallidae) from Venezuela. ( 17354386 )
2004
16
In vitro excystation of metacercariae of Microphallus turgidus under different physicochemical conditions. ( 12733062 )
2003
17
Effects of Microphallus papillorobustus (Platyhelminthes: Trematoda) on serotonergic immunoreactivity and neuronal architecture in the brain of Gammarus insensibilis (Crustacea: Amphipoda). ( 12769454 )
2003
18
Field evidence for density-dependent effects in the trematode Microphallus papillorobustus in its manipulated host, Gammarus insensibilis. ( 14533671 )
2003
19
Effects of the trematode Microphallus turgidus on locomotion and prey capture in the grass shrimp Palaemonetes pugio. ( 14627449 )
2003
20
Prevalence, geographic distribution, and fitness effects of Microphallus turgidus (trematoda: Microphallidae) in grass shrimp (Palaemonetes spp.) from coastal Georgia. ( 12053986 )
2002
21
Negative influence of Gammarinema gammari (Nematoda) on the fecundity of Microphallus papillorobustus (Trematoda): field and experimental evidence. ( 12054032 )
2002
22
Egg production by metacercariae of Microphallus papillorobustus: a reproductive insurance? ( 12363383 )
2002
23
Interaction between Gammarinema gammari (Nematoda), Microphallus papillorobustus (Trematoda) and their common host Gammarus insensibilis (Amphipoda). ( 11780843 )
2001
24
Experimental exposure of juvenile snails (Potamopyrgus antipodarum ) to infection by trematode larvae (Microphallus sp.): infectivity, fecundity compensation and growth. ( 28307515 )
1998
25
Experimental exposure of juvenile snails (Potamopyrgus antipodarum ) to infection by trematode larvae (Microphallus sp.): infectivity, fecundity compensation and growth. ( 28307527 )
1998
26
Microphallus: eventual phallic size is dependent on the timing of androgen administration. ( 8022007 )
1994
27
Transdermal dihydrotestosterone therapy and its effects on patients with microphallus. ( 8326617 )
1993
28
Evidence for the presence of quinone methide isomerase in the metacercarial cyst of Microphallus sp. (Trematoda: Microphallidae). ( 1745555 )
1991
29
In ovo cultivation of Microphallus primas (Trematoda: Microphallidae) metacercariae to ovigerous adults and the establishment of the life-cycle in the laboratory. ( 1780184 )
1991
30
A light and electron microscope study on in vitro excystation of Microphallus abortivus (Digenea: Microphallidae) metacercariae. ( 1994373 )
1991
31
Ultrastructural study on the spermiogenesis and spermatozoon of the metacercariae of Microphallus primas (Digenea), a parasite of Carcinus maenas. ( 2310565 )
1990
32
Cultivation and development of Microphallus pygmaeus (Trematoda:Microphallidae) in fertile chick eggs. ( 3387412 )
1988
33
Pseudovaginal perineoscrotal hypospadias. Clinical, endocrinological and biochemical characterization of a patient. ( 3428322 )
1987
34
Site selection by Microphallus pygmaeus Levinsen, 1881 (Trematoda: Microphallidae) in the laboratory mouse. ( 3588583 )
1987
35
Retention and egg production of Microphallus pygmaeus in mice: the influence of the adrenal cortex. ( 3019031 )
1986
36
Effects of thyroxine and thiouracil on the retention, growth and egg production of Microphallus pygmaeus in mice. ( 3781735 )
1986
37
Human chorionic gonadotropin testing. Changing testicular response in infants with microphallus and gonadotropin deficiency. ( 6695875 )
1984
38
Pseudovaginal perineoscrotal hypospadias: genetic heterogeneity. ( 6105737 )
1980
39
Microphallus: distinction between anomalous and endocrine types. ( 7359646 )
1980
40
Topically applied testosterone and phallic growth. Its effects in male children with hypopituitarism and microphallus. ( 7361738 )
1980
41
Mechanical genital maldevelopment presenting as pseudovaginal perineoscrotal hypospadias. ( 571482 )
1979
42
Early determination of androgen-responsiveness is important in the management of microphallus. ( 91775 )
1979
43
Microphallus: distinction between anomalous and endocrine types. ( 545808 )
1979
44
Microphallus, growth hormone deficiency, and hypoglycemia in Russell-Silver syndrome. ( 717328 )
1978
45
Microphallus: clinical and endocrinological characteristics. ( 37629 )
1978
46
Microphallus: clinical and endocrinological characteristics. ( 660760 )
1978
47
Clinical and endocrinological evaluation of patients with congenital microphallus. ( 671617 )
1978
48
Congenital hypopituitarism associated with neonatal hypoglycemia and microphallus: effect of GH therapy. ( 856771 )
1977
49
Iatrogenic microphallus secondary to circumcision. ( 790749 )
1976
50
Pyruvate kinases and carbon dioxide fixating enzymes in the digestive gland of Littorina saxatilis rudis (Maton) and in the daughter sporocysts of Microphallus similis (Jäg.) (Digenea: Microphallidae). ( 237729 )
1975

Variations for Pseudovaginal Perineoscrotal Hypospadias

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

75 (show all 21)
# Symbol AA change Variation ID SNP ID
1 SRD5A2 p.Arg246Trp VAR_005609
2 SRD5A2 p.Leu55Gln VAR_013105
3 SRD5A2 p.Gly115Asp VAR_013106
4 SRD5A2 p.Gly183Ser VAR_013108
5 SRD5A2 p.Gly196Ser VAR_013109
6 SRD5A2 p.Glu197Asp VAR_013110
7 SRD5A2 p.Pro212Arg VAR_013111
8 SRD5A2 p.Ala228Thr VAR_013112
9 SRD5A2 p.His231Arg VAR_013113
10 SRD5A2 p.Gly85Asp VAR_013130
11 SRD5A2 p.Glu200Lys VAR_013132
12 SRD5A2 p.Ser245Tyr VAR_013133
13 SRD5A2 p.Arg246Gln VAR_013134 rs9332967
14 SRD5A2 p.Arg145Trp VAR_025851
15 SRD5A2 p.Pro181Leu VAR_025852
16 SRD5A2 p.Tyr235Phe VAR_025853
17 SRD5A2 p.Gly123Arg VAR_025854
18 SRD5A2 p.Gln126Arg VAR_025855
19 SRD5A2 p.Gly158Arg VAR_025856
20 SRD5A2 p.Ala207Asp VAR_025857
21 SRD5A2 p.Arg227Gln VAR_037586 rs9332964

ClinVar genetic disease variations for Pseudovaginal Perineoscrotal Hypospadias:

6 (show top 50) (show all 156)
# Gene Variation Type Significance SNP ID Assembly Location
1 SRD5A2 NC_000002.12: g.(?_31524586)_(31580971_?)del deletion Pathogenic GRCh38 Chromosome 2, 31524586: 31580971
2 SRD5A2 NM_000348.3(SRD5A2): c.736C> T (p.Arg246Trp) single nucleotide variant Pathogenic rs121434244 GRCh37 Chromosome 2, 31751295: 31751295
3 SRD5A2 NM_000348.3(SRD5A2): c.736C> T (p.Arg246Trp) single nucleotide variant Pathogenic rs121434244 GRCh38 Chromosome 2, 31526225: 31526225
4 SRD5A2 NM_000348.3(SRD5A2): c.468_470delAAT (p.Met157del) deletion Pathogenic rs587776566 GRCh37 Chromosome 2, 31756518: 31756520
5 SRD5A2 NM_000348.3(SRD5A2): c.468_470delAAT (p.Met157del) deletion Pathogenic rs587776566 GRCh38 Chromosome 2, 31531448: 31531450
6 SRD5A2 NM_000348.3(SRD5A2): c.164T> A (p.Leu55Gln) single nucleotide variant Pathogenic rs121434245 GRCh37 Chromosome 2, 31805807: 31805807
7 SRD5A2 NM_000348.3(SRD5A2): c.164T> A (p.Leu55Gln) single nucleotide variant Pathogenic rs121434245 GRCh38 Chromosome 2, 31580737: 31580737
8 SRD5A2 NM_000348.3(SRD5A2): c.344G> A (p.Gly115Asp) single nucleotide variant Pathogenic rs121434246 GRCh37 Chromosome 2, 31758774: 31758774
9 SRD5A2 NM_000348.3(SRD5A2): c.344G> A (p.Gly115Asp) single nucleotide variant Pathogenic rs121434246 GRCh38 Chromosome 2, 31533704: 31533704
10 SRD5A2 NM_000348.3(SRD5A2): c.547G> A (p.Gly183Ser) single nucleotide variant Pathogenic rs121434247 GRCh37 Chromosome 2, 31756441: 31756441
11 SRD5A2 NM_000348.3(SRD5A2): c.547G> A (p.Gly183Ser) single nucleotide variant Pathogenic rs121434247 GRCh38 Chromosome 2, 31531371: 31531371
12 SRD5A2 NM_000348.3(SRD5A2): c.679C> T (p.Arg227Ter) single nucleotide variant Pathogenic rs121434248 GRCh37 Chromosome 2, 31754396: 31754396
13 SRD5A2 NM_000348.3(SRD5A2): c.679C> T (p.Arg227Ter) single nucleotide variant Pathogenic rs121434248 GRCh38 Chromosome 2, 31529326: 31529326
14 SRD5A2 NM_000348.3(SRD5A2): c.753delA (p.Phe252Serfs) deletion Pathogenic rs587776567 GRCh37 Chromosome 2, 31751278: 31751278
15 SRD5A2 NM_000348.3(SRD5A2): c.753delA (p.Phe252Serfs) deletion Pathogenic rs587776567 GRCh38 Chromosome 2, 31526208: 31526208
16 SRD5A2 NM_000348.3(SRD5A2): c.682G> A (p.Ala228Thr) single nucleotide variant Pathogenic/Likely pathogenic rs121434249 GRCh37 Chromosome 2, 31754393: 31754393
17 SRD5A2 NM_000348.3(SRD5A2): c.682G> A (p.Ala228Thr) single nucleotide variant Pathogenic/Likely pathogenic rs121434249 GRCh38 Chromosome 2, 31529323: 31529323
18 SRD5A2 NM_000348.3(SRD5A2): c.586G> A (p.Gly196Ser) single nucleotide variant Pathogenic rs121434250 GRCh37 Chromosome 2, 31754489: 31754489
19 SRD5A2 NM_000348.3(SRD5A2): c.586G> A (p.Gly196Ser) single nucleotide variant Pathogenic rs121434250 GRCh38 Chromosome 2, 31529419: 31529419
20 SRD5A2 NM_000348.3(SRD5A2): c.692A> G (p.His231Arg) single nucleotide variant Pathogenic rs121434251 GRCh37 Chromosome 2, 31754383: 31754383
21 SRD5A2 NM_000348.3(SRD5A2): c.692A> G (p.His231Arg) single nucleotide variant Pathogenic rs121434251 GRCh38 Chromosome 2, 31529313: 31529313
22 SRD5A2 NM_000348.3(SRD5A2): c.145G> A (p.Ala49Thr) single nucleotide variant Benign rs9282858 GRCh37 Chromosome 2, 31805826: 31805826
23 SRD5A2 NM_000348.3(SRD5A2): c.145G> A (p.Ala49Thr) single nucleotide variant Benign rs9282858 GRCh38 Chromosome 2, 31580756: 31580756
24 SRD5A2 NM_000348.3(SRD5A2): c.635C> G (p.Pro212Arg) single nucleotide variant Pathogenic rs121434252 GRCh37 Chromosome 2, 31754440: 31754440
25 SRD5A2 NM_000348.3(SRD5A2): c.635C> G (p.Pro212Arg) single nucleotide variant Pathogenic rs121434252 GRCh38 Chromosome 2, 31529370: 31529370
26 SRD5A2 NM_000348.3(SRD5A2): c.591G> T (p.Glu197Asp) single nucleotide variant Pathogenic rs121434253 GRCh37 Chromosome 2, 31754484: 31754484
27 SRD5A2 NM_000348.3(SRD5A2): c.591G> T (p.Glu197Asp) single nucleotide variant Pathogenic rs121434253 GRCh38 Chromosome 2, 31529414: 31529414
28 SRD5A2 NM_000348.3(SRD5A2): c.78C> G (p.Tyr26Ter) single nucleotide variant Pathogenic rs104893667 GRCh37 Chromosome 2, 31805892: 31805892
29 SRD5A2 NM_000348.3(SRD5A2): c.78C> G (p.Tyr26Ter) single nucleotide variant Pathogenic rs104893667 GRCh38 Chromosome 2, 31580823: 31580823
30 SRD5A2 NM_000348.3(SRD5A2): c.680G> A (p.Arg227Gln) single nucleotide variant Pathogenic/Likely pathogenic rs9332964 GRCh37 Chromosome 2, 31754395: 31754395
31 SRD5A2 NM_000348.3(SRD5A2): c.680G> A (p.Arg227Gln) single nucleotide variant Pathogenic/Likely pathogenic rs9332964 GRCh38 Chromosome 2, 31529325: 31529325
32 SRD5A2 NM_000348.3(SRD5A2): c.307C> T (p.Arg103Ter) single nucleotide variant Pathogenic rs267599353 GRCh37 Chromosome 2, 31758811: 31758811
33 SRD5A2 NM_000348.3(SRD5A2): c.307C> T (p.Arg103Ter) single nucleotide variant Pathogenic rs267599353 GRCh38 Chromosome 2, 31533741: 31533741
34 SRD5A2 NM_000348.3(SRD5A2): c.307C> T (p.Arg103Ter) single nucleotide variant Pathogenic rs267599353 NCBI36 Chromosome 2, 31612315: 31612315
35 SRD5A2 NM_000348.3(SRD5A2): c.-62G> C single nucleotide variant Benign rs632148 GRCh37 Chromosome 2, 31806031: 31806031
36 SRD5A2 NM_000348.3(SRD5A2): c.-62G> C single nucleotide variant Benign rs632148 GRCh38 Chromosome 2, 31580962: 31580962
37 SRD5A2 NM_000348.3(SRD5A2): c.548-2A> C single nucleotide variant Likely pathogenic rs61750397 GRCh37 Chromosome 2, 31754529: 31754529
38 SRD5A2 NM_000348.3(SRD5A2): c.548-2A> C single nucleotide variant Likely pathogenic rs61750397 GRCh38 Chromosome 2, 31529459: 31529459
39 SRD5A2 NM_000348.3(SRD5A2): c.*849A> G single nucleotide variant Likely benign rs9332975 GRCh37 Chromosome 2, 31750417: 31750417
40 SRD5A2 NM_000348.3(SRD5A2): c.*849A> G single nucleotide variant Likely benign rs9332975 GRCh38 Chromosome 2, 31525347: 31525347
41 SRD5A2 NM_000348.3(SRD5A2): c.*1356A> C single nucleotide variant Uncertain significance rs28383087 GRCh37 Chromosome 2, 31749910: 31749910
42 SRD5A2 NM_000348.3(SRD5A2): c.*1356A> C single nucleotide variant Uncertain significance rs28383087 GRCh38 Chromosome 2, 31524840: 31524840
43 SRD5A2 NM_000348.3(SRD5A2): c.*1552G> A single nucleotide variant Benign rs1042578 GRCh37 Chromosome 2, 31749714: 31749714
44 SRD5A2 NM_000348.3(SRD5A2): c.*1552G> A single nucleotide variant Benign rs1042578 GRCh38 Chromosome 2, 31524644: 31524644
45 SRD5A2 NM_000348.3(SRD5A2): c.*1273A> G single nucleotide variant Likely benign rs28383086 GRCh37 Chromosome 2, 31749993: 31749993
46 SRD5A2 NM_000348.3(SRD5A2): c.*1273A> G single nucleotide variant Likely benign rs28383086 GRCh38 Chromosome 2, 31524923: 31524923
47 SRD5A2 NM_000348.3(SRD5A2): c.*1151_*1152dupTT duplication Uncertain significance rs111776930 GRCh37 Chromosome 2, 31750114: 31750115
48 SRD5A2 NM_000348.3(SRD5A2): c.*1151_*1152dupTT duplication Uncertain significance rs111776930 GRCh38 Chromosome 2, 31525044: 31525045
49 SRD5A2 NM_000348.3(SRD5A2): c.*1056G> C single nucleotide variant Likely benign rs28383085 GRCh38 Chromosome 2, 31525140: 31525140
50 SRD5A2 NM_000348.3(SRD5A2): c.*1056G> C single nucleotide variant Likely benign rs28383085 GRCh37 Chromosome 2, 31750210: 31750210

Expression for Pseudovaginal Perineoscrotal Hypospadias

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

Pathways for Pseudovaginal Perineoscrotal Hypospadias

GO Terms for Pseudovaginal Perineoscrotal Hypospadias

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.75 AR 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 9.7 CYP17A1 SRD5A1 SRD5A2
5 response to peptide hormone GO:0043434 9.61 GNRH1 SRD5A2
6 bone development GO:0060348 9.6 SRD5A1 SRD5A2
7 cellular response to cAMP GO:0071320 9.59 AHR SRD5A1
8 intracellular receptor signaling pathway GO:0030522 9.58 AHR AR
9 response to steroid hormone GO:0048545 9.56 GNRH1 SRD5A2
10 male gonad development GO:0008584 9.56 AR LHCGR SRD5A1 SRD5A2
11 androgen metabolic process GO:0008209 9.55 SRD5A1 SRD5A2
12 steroid biosynthetic process GO:0006694 9.54 CYP17A1 SRD5A1 SRD5A2
13 hypothalamus development GO:0021854 9.51 SRD5A1 SRD5A2
14 response to testosterone GO:0033574 9.5 GNRH1 SRD5A1 SRD5A2
15 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.49 AR IGFBP3
16 cellular response to testosterone stimulus GO:0071394 9.48 AR SRD5A1
17 progesterone metabolic process GO:0042448 9.46 CYP17A1 SRD5A1
18 female genitalia development GO:0030540 9.43 SRD5A1 SRD5A2
19 response to follicle-stimulating hormone GO:0032354 9.4 SRD5A1 SRD5A2
20 male genitalia development GO:0030539 9.33 LHCGR SRD5A1 SRD5A2
21 androgen biosynthetic process GO:0006702 9.13 CYP17A1 SRD5A1 SRD5A2
22 sex differentiation GO:0007548 8.92 AR CYP17A1 SRD5A1 SRD5A2

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 9.32 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 amide binding GO:0033218 8.96 SRD5A1 SRD5A2
5 cholestenone 5-alpha-reductase activity GO:0047751 8.62 SRD5A1 SRD5A2

Sources for Pseudovaginal Perineoscrotal Hypospadias

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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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