MCID: PSD021
MIFTS: 34

Pseudovaginal Perineoscrotal Hypospadias

Categories: Genetic diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Rare 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
Male Pseudohermaphroditism 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 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome and isolated micropenis. An important gene associated with Pseudovaginal Perineoscrotal Hypospadias is SRD5A2 (Steroid 5 Alpha-Reductase 2). Affiliated tissues include prostate, 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

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
GenitourinaryInternal GenitaliaMale:
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 reproductive system MP:0005389 8.62 SMCHD1 SRD5A2

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

Publications for Pseudovaginal Perineoscrotal Hypospadias

Articles related to Pseudovaginal Perineoscrotal Hypospadias:

# Title Authors Year
1
Pseudovaginal perineoscrotal hypospadias. Clinical, endocrinological and biochemical characterization of a patient. ( 3428322 )
1987
2
Pseudovaginal perineoscrotal hypospadias: genetic heterogeneity. ( 6105737 )
1980
3
Mechanical genital maldevelopment presenting as pseudovaginal perineoscrotal hypospadias. ( 571482 )
1979
4
Familial incomplete male pseudohermaphroditism, type 2. Decreased dihydrotestosterone formation in pseudovaginal perineoscrotal hypospadias. ( 4413434 )
1974
5
Pseudovaginal perineoscrotal hypospadias. ( 5013863 )
1972
6
Pseudovaginal perineoscrotal hypospadias (PPSH) in sibs. ( 5173156 )
1971

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 130)
# 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.635C> G (p.Pro212Arg) single nucleotide variant Pathogenic rs121434252 GRCh37 Chromosome 2, 31754440: 31754440
23 SRD5A2 NM_000348.3(SRD5A2): c.635C> G (p.Pro212Arg) single nucleotide variant Pathogenic rs121434252 GRCh38 Chromosome 2, 31529370: 31529370
24 SRD5A2 NM_000348.3(SRD5A2): c.591G> T (p.Glu197Asp) single nucleotide variant Pathogenic rs121434253 GRCh37 Chromosome 2, 31754484: 31754484
25 SRD5A2 NM_000348.3(SRD5A2): c.591G> T (p.Glu197Asp) single nucleotide variant Pathogenic rs121434253 GRCh38 Chromosome 2, 31529414: 31529414
26 SRD5A2 NM_000348.3(SRD5A2): c.680G> A (p.Arg227Gln) single nucleotide variant Pathogenic/Likely pathogenic rs9332964 GRCh37 Chromosome 2, 31754395: 31754395
27 SRD5A2 NM_000348.3(SRD5A2): c.680G> A (p.Arg227Gln) single nucleotide variant Pathogenic/Likely pathogenic rs9332964 GRCh38 Chromosome 2, 31529325: 31529325
28 SRD5A2 NM_000348.3(SRD5A2): c.307C> T (p.Arg103Ter) single nucleotide variant Pathogenic rs267599353 GRCh37 Chromosome 2, 31758811: 31758811
29 SRD5A2 NM_000348.3(SRD5A2): c.307C> T (p.Arg103Ter) single nucleotide variant Pathogenic rs267599353 GRCh38 Chromosome 2, 31533741: 31533741
30 SRD5A2 NM_000348.3(SRD5A2): c.307C> T (p.Arg103Ter) single nucleotide variant Pathogenic rs267599353 NCBI36 Chromosome 2, 31612315: 31612315
31 SRD5A2 NM_000348.3(SRD5A2): c.*1273A> G single nucleotide variant Likely benign rs28383086 GRCh37 Chromosome 2, 31749993: 31749993
32 SRD5A2 NM_000348.3(SRD5A2): c.*1273A> G single nucleotide variant Likely benign rs28383086 GRCh38 Chromosome 2, 31524923: 31524923
33 SRD5A2 NM_000348.3(SRD5A2): c.*1151_*1152dupTT duplication Uncertain significance rs111776930 GRCh37 Chromosome 2, 31750114: 31750115
34 SRD5A2 NM_000348.3(SRD5A2): c.*1151_*1152dupTT duplication Uncertain significance rs111776930 GRCh38 Chromosome 2, 31525044: 31525045
35 SRD5A2 NM_000348.3(SRD5A2): c.*1056G> C single nucleotide variant Likely benign rs28383085 GRCh38 Chromosome 2, 31525140: 31525140
36 SRD5A2 NM_000348.3(SRD5A2): c.*1056G> C single nucleotide variant Likely benign rs28383085 GRCh37 Chromosome 2, 31750210: 31750210
37 SRD5A2 NM_000348.3(SRD5A2): c.*686G> T single nucleotide variant Uncertain significance rs886055950 GRCh38 Chromosome 2, 31525510: 31525510
38 SRD5A2 NM_000348.3(SRD5A2): c.*686G> T single nucleotide variant Uncertain significance rs886055950 GRCh37 Chromosome 2, 31750580: 31750580
39 SRD5A2 NM_000348.3(SRD5A2): c.*224A> T single nucleotide variant Likely benign rs28383083 GRCh38 Chromosome 2, 31525972: 31525972
40 SRD5A2 NM_000348.3(SRD5A2): c.*224A> T single nucleotide variant Likely benign rs28383083 GRCh37 Chromosome 2, 31751042: 31751042
41 SRD5A2 NM_000348.3(SRD5A2) indel Uncertain significance rs886055953 GRCh38 Chromosome 2, 31526105: 31526106
42 SRD5A2 NM_000348.3(SRD5A2) indel Uncertain significance rs886055953 GRCh37 Chromosome 2, 31751175: 31751176
43 SRD5A2 NM_000348.3(SRD5A2) indel Uncertain significance rs886055954 GRCh38 Chromosome 2, 31526105: 31526108
44 SRD5A2 NM_000348.3(SRD5A2) indel Uncertain significance rs886055954 GRCh37 Chromosome 2, 31751175: 31751178
45 SRD5A2 NM_000348.3(SRD5A2): c.*88T> A single nucleotide variant Likely benign rs370989010 GRCh38 Chromosome 2, 31526108: 31526108
46 SRD5A2 NM_000348.3(SRD5A2): c.*88T> A single nucleotide variant Likely benign rs370989010 GRCh37 Chromosome 2, 31751178: 31751178
47 SRD5A2 NM_000348.3(SRD5A2): c.230G> A (p.Gly77Glu) single nucleotide variant Uncertain significance rs886055955 GRCh38 Chromosome 2, 31580671: 31580671
48 SRD5A2 NM_000348.3(SRD5A2): c.230G> A (p.Gly77Glu) single nucleotide variant Uncertain significance rs886055955 GRCh37 Chromosome 2, 31805741: 31805741
49 SRD5A2 NM_000348.3(SRD5A2): c.89dupC (p.Ser31Leufs) duplication Benign rs61748121 GRCh38 Chromosome 2, 31580812: 31580812
50 SRD5A2 NM_000348.3(SRD5A2): c.89dupC (p.Ser31Leufs) duplication Benign rs61748121 GRCh37 Chromosome 2, 31805881: 31805881

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

Sources for Pseudovaginal Perineoscrotal Hypospadias

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
Content
Loading form....