Pseudovaginal Perineoscrotal Hypospadias disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PSD021 MIFTS: 34	Pseudovaginal Perineoscrotal Hypospadias Categories: Genetic diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Rare diseases
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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Reproductive diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of genital organs

Indeterminate sex and pseudohermaphroditism

Male pseudohermaphroditism, not elsewhere classified

Orphanet: ⁵⁹

Rare infertility disorders

Rare gynaecological and obstetric diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 264600

Orphanet ⁵⁹ ORPHA753

UMLS via Orphanet ⁷⁴ C3669122 C0268297

ICD10 via Orphanet ³⁴ Q56.1

MedGen ⁴² C0268297 C0266435 CN000054

MeSH ⁴⁴ D058490

SNOMED-CT via HPO ⁶⁹ 258211005 204878001 204912007 more

UMLS ⁷³ C0268297 C3669122

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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...

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Related Diseases for Pseudovaginal Perineoscrotal Hypospadias

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

(show all 26)

#	Related Disease	Score
1	mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome	12.4
2	isolated micropenis	12.0
3	5-alpha reductase deficiency	12.0
4	microcephaly micropenis convulsions	11.9
5	male pseudohermaphroditism intellectual disability syndrome, verloes type	11.3
6	penis agenesis	11.2
7	androgen insensitivity syndrome	11.2
8	androgen insensitivity, partial	11.2
9	leydig cell hypoplasia, type i	11.0
10	spinal muscular atrophy, x-linked 2	10.9
11	testicular anomalies with or without congenital heart disease	10.9
12	solitary median maxillary central incisor	10.8
13	ritscher-schinzel syndrome 1	10.8
14	mental retardation, x-linked, syndromic, nascimento type	10.8
15	disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency	10.8
16	intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies	10.8
17	kleefstra syndrome	10.8
18	hypogonadotropic hypogonadism	10.8
19	leydig cell hypoplasia	10.8
20	pituitary stalk interruption syndrome	10.8
21	x-linked lissencephaly with abnormal genitalia	10.8
22	hypospadias	10.7
23	pseudohermaphroditism	10.3
24	pallister-hall syndrome	9.9
25	holoprosencephaly	9.9
26	hypopituitarism	9.9

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

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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

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Drugs & Therapeutics for Pseudovaginal Perineoscrotal Hypospadias

Search Clinical Trials , NIH Clinical Center for Pseudovaginal Perineoscrotal Hypospadias

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Genetic Tests for Pseudovaginal Perineoscrotal Hypospadias

Genetic tests related to Pseudovaginal Perineoscrotal Hypospadias:

#	Genetic test	Affiliating Genes
1	Microphallus ²⁹

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Anatomical Context for Pseudovaginal Perineoscrotal Hypospadias

MalaCards organs/tissues related to Pseudovaginal Perineoscrotal Hypospadias:

⁴¹

Prostate

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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 )	Bartsch G....Schweikert U.	1987
2	Pseudovaginal perineoscrotal hypospadias: genetic heterogeneity. ( 6105737 )	Keenan B.S.	1980
3	Mechanical genital maldevelopment presenting as pseudovaginal perineoscrotal hypospadias. ( 571482 )	Lockhart J.L....Glenn J.F.	1979
4	Familial incomplete male pseudohermaphroditism, type 2. Decreased dihydrotestosterone formation in pseudovaginal perineoscrotal hypospadias. ( 4413434 )	Walsh P.C....Wilson J.D.	1974
5	Pseudovaginal perineoscrotal hypospadias. ( 5013863 )	Opitz J.M....German J.	1972
6	Pseudovaginal perineoscrotal hypospadias (PPSH) in sibs. ( 5173156 )	Simpson J.L....German J.	1971

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Genes for Pseudovaginal Perineoscrotal Hypospadias

Genes related to Pseudovaginal Perineoscrotal Hypospadias (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SRD5A2	Steroid 5 Alpha-Reductase 2	Protein Coding	1615.51	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁵ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Summaries Variants (show sections)
2	SMCHD1	Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing 1	Protein Coding	400	Pathogenic ⁶

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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

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Expression for Pseudovaginal Perineoscrotal Hypospadias

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

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Pathways for Pseudovaginal Perineoscrotal Hypospadias

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GO Terms for Pseudovaginal Perineoscrotal Hypospadias

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Sources for Pseudovaginal Perineoscrotal Hypospadias

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