PPSH
MCID: 5LP001
MIFTS: 30

5-Alpha Reductase Deficiency (PPSH)

Categories: Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for 5-Alpha Reductase Deficiency

MalaCards integrated aliases for 5-Alpha Reductase Deficiency:

Name: 5-Alpha Reductase Deficiency 53 25 73
Pseudovaginal Perineoscrotal Hypospadias 53 25 73
Male Pseudohermaphroditism Due to 5-Alpha-Reductase Deficiency 53 25
Familial Incomplete Male Pseudohermaphroditism, Type 2 53 25
Ppsh 53 25
Steroid 5-Alpha-Reductase Deficiency 25

Classifications:



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Summaries for 5-Alpha Reductase Deficiency

NIH Rare Diseases : 53 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.

MalaCards based summary : 5-Alpha Reductase Deficiency, also known as pseudovaginal perineoscrotal hypospadias, is related to pseudovaginal perineoscrotal hypospadias and hypospadias. An important gene associated with 5-Alpha Reductase Deficiency is SRD5A2 (Steroid 5 Alpha-Reductase 2), and among its related pathways/superpathways are Transcription Androgen Receptor nuclear signaling and Metabolism of steroid hormones. Affiliated tissues include testes, skin and prostate.

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.

Related Diseases for 5-Alpha Reductase Deficiency

Diseases related to 5-Alpha Reductase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pseudovaginal perineoscrotal hypospadias 32.3 SRD5A1 SRD5A2
2 hypospadias 31.0 SRD5A1 SRD5A2
3 male pseudohermaphroditism intellectual disability syndrome, verloes type 11.5
4 pseudohermaphroditism 10.4
5 smith-lemli-opitz syndrome 10.1
6 opitz gbbb syndrome, type i 10.1
7 alopecia, androgenetic, 1 9.9 SRD5A1 SRD5A2
8 prostatic hyperplasia, benign 9.8 SRD5A1 SRD5A2

Graphical network of the top 20 diseases related to 5-Alpha Reductase Deficiency:



Diseases related to 5-Alpha Reductase Deficiency

Symptoms & Phenotypes for 5-Alpha Reductase Deficiency

Drugs & Therapeutics for 5-Alpha Reductase Deficiency

Search Clinical Trials , NIH Clinical Center for 5-Alpha Reductase Deficiency

Genetic Tests for 5-Alpha Reductase Deficiency

Anatomical Context for 5-Alpha Reductase Deficiency

MalaCards organs/tissues related to 5-Alpha Reductase Deficiency:

41
Testes, Skin, Prostate

Publications for 5-Alpha Reductase Deficiency

Articles related to 5-Alpha Reductase Deficiency:

(show top 50) (show all 78)
# Title Authors Year
1
Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population. ( 30269266 )
2018
2
Gender identity in patients with 5-alpha reductase deficiency raised as females. ( 30297225 )
2018
3
5-Alpha reductase deficiency: a 40-year retrospective review. ( 25321150 )
2014
4
Pelvic MRI in a 17-year-old XY girl with 5-alpha reductase deficiency and a homozygous Gly115Asp mutation in SRD5A2. ( 21835392 )
2011
5
Two novel mutations of SRD5A2 gene in Indonesian siblings with clinical 5-alpha-reductase deficiency. ( 21714467 )
2010
6
A late sex reassignment in 5-alpha reductase deficiency: case report. ( 12968833 )
2003
7
Homozygous mutation (A228T) in the 5-alpha-reductase type 2 gene in a boy with 5-alpha-reductase deficiency: genotype-phenotype correlations. ( 9843052 )
1998
8
5 alpha-reductase deficiency in patients with micropenis. ( 9061573 )
1997
9
Molecular genetic analysis and human chorionic gonadotropin stimulation tests in the diagnosis of prepubertal patients with partial 5 alpha-reductase deficiency. ( 8789759 )
1996
10
Nonisotopic single strand conformation analysis of the 5 alpha-reductase type 2 gene for the diagnosis of 5 alpha-reductase deficiency. ( 8784107 )
1996
11
Sex reversal in an infant with Smith-Lemli-Opitz syndrome, type II: evidence for 5-alpha reductase deficiency. ( 8887136 )
1996
12
The metabolism of testosterone by dermal papilla cells cultured from human pubic and axillary hair follicles concurs with hair growth in 5 alpha-reductase deficiency. ( 8618032 )
1996
13
Male pseudohermaphroditism with 5-alpha-reductase deficiency: report of two new familial cases. The importance of early diagnosis. ( 7584701 )
1995
14
A new deletion of the 5-alpha-reductase type 2 gene in a Turkish family with 5-alpha-reductase deficiency. ( 7554313 )
1995
15
Molecular study of the 5 alpha-reductase type 2 gene in three European families with 5 alpha-reductase deficiency. ( 7608269 )
1995
16
5-Alpha-reductase deficiency in a Saudi "girl". ( 7494782 )
1995
17
Male pseudohermaphroditism due to primary 5 alpha-reductase deficiency: variation in gender identity reversal in seven Mexican patients from five different pedigrees. ( 7615906 )
1995
18
Acrodysostosis with 5 alpha reductase deficiency: an unusual association. ( 7960003 )
1994
19
5-alpha-reductase deficiency. ( 7704752 )
1994
20
Luteinizing hormone pulsatility in subjects with 5-alpha-reductase deficiency and decreased dihydrotestosterone production. ( 8157721 )
1994
21
5 alpha-reductase deficiency: human and animal models. ( 8287893 )
1994
22
[The importance of DNA analysis in the diagnosis of steroid 5-alpha-reductase deficiency]. ( 8001864 )
1994
23
Aspects of 5-alpha reductase deficiency, a review. ( 8396301 )
1993
24
Kinetic evidence for a unique testosterone-receptor complex in 5 alpha-reductase sufficient genital skin fibroblasts and the effects of 5 alpha-reductase deficiency on its formation. ( 8518203 )
1993
25
Brief report: the molecular basis of steroid 5 alpha-reductase deficiency in a large Dominican kindred. ( 1406794 )
1992
26
Prostate visualization studies in males homozygous and heterozygous for 5 alpha-reductase deficiency. ( 1400866 )
1992
27
[A case of pseudo-vaginal, perineoscrotal hypospadia with 5-alpha reductase deficiency]. ( 1568634 )
1992
28
Early diagnosis and management of 5 alpha-reductase deficiency. ( 1626992 )
1992
29
A cluster of male pseudohermaphrodites with 5 alpha-reductase deficiency in Papua New Guinea. ( 1831738 )
1991
30
5 alpha-metabolism in finasteride-treated subjects and male pseudohermaphrodites with inherited 5 alpha-reductase deficiency. A review. ( 1722167 )
1991
31
C19 and C21 5 beta/5 alpha metabolite ratios in subjects treated with the 5 alpha-reductase inhibitor finasteride: comparison of male pseudohermaphrodites with inherited 5 alpha-reductase deficiency. ( 1689740 )
1990
32
Variable expression of 5 alpha-reductase deficiency: presentation with male phenotype in a child of Greek origin. ( 2143199 )
1990
33
5 alpha-reductase deficiency without hypospadias. ( 2248513 )
1990
34
Congenital erythropoietic porphyria and congenital adrenal hyperplasia with evidence for hepatic delta-5 alpha-reductase deficiency. ( 2926755 )
1989
35
Decreased 3 alpha-androstanediol glucuronide levels in plasma and random urines in male pseudohermaphroditism caused by 5 alpha-reductase deficiency. ( 2770532 )
1989
36
The Sambia "turnim-man": sociocultural and clinical aspects of gender formation in male pseudohermaphrodites with 5-alpha-reductase deficiency in Papua New Guinea. ( 3358675 )
1988
37
Evidence for secondary 5 alpha-reductase deficiency in genital and supra-pubic skin of subjects with androgen insensitivity syndrome. ( 3164158 )
1988
38
Male pseudohermaphroditism due to 5 alpha-reductase deficiency in a Swedish family. ( 3409930 )
1988
39
Pseudovaginal perineoscrotal hypospadias. Clinical, endocrinological and biochemical characterization of a patient. ( 3428322 )
1987
40
Male pseudohermaphroditism due to 5 alpha reductase deficiency associated with gynecomastia. ( 3441728 )
1987
41
Comparison of two tests to recognize or exclude 5 alpha-reductase deficiency in prepubertal children. ( 2880442 )
1987
42
The coexistence of male pseudohermaphrodites with 17-ketosteroid reductase deficiency and 5 alpha-reductase deficiency within a Turkish kindred. ( 3477349 )
1987
43
Characterization of the testicular abnormality in 5 alpha-reductase deficiency. ( 3760113 )
1986
44
The diagnosis of 5 alpha-reductase deficiency in infancy. ( 3782419 )
1986
45
Pharmacological induction of 5 alpha-reductase deficiency in the rat: separation of testosterone-mediated and 5 alpha-dihydrotestosterone-mediated effects. ( 3732173 )
1986
46
5 alpha reductase deficiency causing male pseudohermaphroditism. ( 3744510 )
1986
47
Male pseudohermaphroditism due to 5-alpha-reductase deficiency. Clinical and endocrinological data in a 17-year-old patient. ( 3747981 )
1986
48
Steroid 5 alpha-reductase deficiency and posterior urethral valves. ( 3699693 )
1986
49
The prevalence of 5 alpha-reductase deficiency in children with ambiguous genitalia in the Dominican Republic. ( 3489839 )
1986
50
Familial male pseudohermaphroditism due to 5-alpha-reductase deficiency in a Turkish village. ( 3740084 )
1986

Variations for 5-Alpha Reductase Deficiency

Expression for 5-Alpha Reductase Deficiency

Search GEO for disease gene expression data for 5-Alpha Reductase Deficiency.

Pathways for 5-Alpha Reductase Deficiency

GO Terms for 5-Alpha Reductase Deficiency

Cellular components related to 5-Alpha Reductase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 organelle membrane GO:0031090 8.96 SRD5A1 SRD5A2
2 cell body fiber GO:0070852 8.62 SRD5A1 SRD5A2

Biological processes related to 5-Alpha Reductase Deficiency according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.69 HSD17B13 SRD5A1 SRD5A2
2 response to drug GO:0042493 9.57 SRD5A1 SRD5A2
3 cell-cell signaling GO:0007267 9.56 CGB5 SRD5A2
4 response to organic cyclic compound GO:0014070 9.55 SRD5A1 SRD5A2
5 steroid metabolic process GO:0008202 9.54 SRD5A1 SRD5A2
6 male gonad development GO:0008584 9.52 SRD5A1 SRD5A2
7 hippocampus development GO:0021766 9.49 SRD5A1 SRD5A2
8 steroid biosynthetic process GO:0006694 9.48 SRD5A1 SRD5A2
9 bone development GO:0060348 9.46 SRD5A1 SRD5A2
10 response to testosterone GO:0033574 9.43 SRD5A1 SRD5A2
11 sex differentiation GO:0007548 9.4 SRD5A1 SRD5A2
12 male genitalia development GO:0030539 9.37 SRD5A1 SRD5A2
13 androgen metabolic process GO:0008209 9.32 SRD5A1 SRD5A2
14 hypothalamus development GO:0021854 9.26 SRD5A1 SRD5A2
15 androgen biosynthetic process GO:0006702 9.16 SRD5A1 SRD5A2
16 female genitalia development GO:0030540 8.96 SRD5A1 SRD5A2
17 response to follicle-stimulating hormone GO:0032354 8.62 SRD5A1 SRD5A2

Molecular functions related to 5-Alpha Reductase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.5 HSD17B13 SRD5A1 SRD5A2
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 5-Alpha Reductase Deficiency

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
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