MCID: 5LP001
MIFTS: 27

5-Alpha Reductase Deficiency

Categories: Rare diseases, Genetic 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 hypospadias and pseudovaginal perineoscrotal 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.

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 hypospadias 28.7 SRD5A1 SRD5A2
2 pseudovaginal perineoscrotal hypospadias 11.5
3 pseudohermaphroditism 10.3
4 smith-lemli-opitz syndrome 9.9
5 opitz gbbb syndrome, type i 9.9
6 vaginitis 9.9
7 penis agenesis 9.6 SRD5A1 SRD5A2
8 alopecia, androgenetic, 1 9.5 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

Publications for 5-Alpha Reductase Deficiency

Articles related to 5-Alpha Reductase Deficiency:

(show all 25)
# Title Authors Year
1
5-Alpha reductase deficiency: a 40-year retrospective review. ( 25321150 )
2014
2
Pelvic MRI in a 17-year-old XY girl with 5-alpha reductase deficiency and a homozygous Gly115Asp mutation in SRD5A2. ( 21835392 )
2011
3
Two novel mutations of SRD5A2 gene in Indonesian siblings with clinical 5-alpha-reductase deficiency. ( 21714467 )
2010
4
A late sex reassignment in 5-alpha reductase deficiency: case report. ( 12968833 )
2003
5
Homozygous mutation (A228T) in the 5-alpha-reductase type 2 gene in a boy with 5-alpha-reductase deficiency: genotype-phenotype correlations. ( 9843052 )
1998
6
Sex reversal in an infant with Smith-Lemli-Opitz syndrome, type II: evidence for 5-alpha reductase deficiency. ( 8887136 )
1996
7
Male pseudohermaphroditism with 5-alpha-reductase deficiency: report of two new familial cases. The importance of early diagnosis. ( 7584701 )
1995
8
A new deletion of the 5-alpha-reductase type 2 gene in a Turkish family with 5-alpha-reductase deficiency. ( 7554313 )
1995
9
5-Alpha-reductase deficiency in a Saudi "girl". ( 7494782 )
1995
10
5-alpha-reductase deficiency. ( 7704752 )
1994
11
Luteinizing hormone pulsatility in subjects with 5-alpha-reductase deficiency and decreased dihydrotestosterone production. ( 8157721 )
1994
12
[The importance of DNA analysis in the diagnosis of steroid 5-alpha-reductase deficiency]. ( 8001864 )
1994
13
Aspects of 5-alpha reductase deficiency, a review. ( 8396301 )
1993
14
[A case of pseudo-vaginal, perineoscrotal hypospadia with 5-alpha reductase deficiency]. ( 1568634 )
1992
15
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
16
Pseudovaginal perineoscrotal hypospadias. Clinical, endocrinological and biochemical characterization of a patient. ( 3428322 )
1987
17
Male pseudohermaphroditism due to 5-alpha-reductase deficiency. Clinical and endocrinological data in a 17-year-old patient. ( 3747981 )
1986
18
Familial male pseudohermaphroditism due to 5-alpha-reductase deficiency in a Turkish village. ( 3740084 )
1986
19
Pseudovaginal perineoscrotal hypospadias: genetic heterogeneity. ( 6105737 )
1980
20
Mechanical genital maldevelopment presenting as pseudovaginal perineoscrotal hypospadias. ( 571482 )
1979
21
5-alpha-Reductase deficiency causing male pseudohermaphroditism. ( 718244 )
1978
22
Male pseudohermaphroditism due to steroid 5-alpha-reductase deficiency. ( 835597 )
1977
23
Familial incomplete male pseudohermaphroditism, type 2. Decreased dihydrotestosterone formation in pseudovaginal perineoscrotal hypospadias. ( 4413434 )
1974
24
Pseudovaginal perineoscrotal hypospadias. ( 5013863 )
1972
25
Pseudovaginal perineoscrotal hypospadias (PPSH) in sibs. ( 5173156 )
1971

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 9.7 HSD17B13 SRD5A1 SRD5A2
2 response to drug GO:0042493 9.57 SRD5A1 SRD5A2
3 response to organic cyclic compound GO:0014070 9.56 SRD5A1 SRD5A2
4 steroid metabolic process GO:0008202 9.55 SRD5A1 SRD5A2
5 male gonad development GO:0008584 9.54 SRD5A1 SRD5A2
6 hippocampus development GO:0021766 9.51 SRD5A1 SRD5A2
7 steroid biosynthetic process GO:0006694 9.49 SRD5A1 SRD5A2
8 bone development GO:0060348 9.48 SRD5A1 SRD5A2
9 response to testosterone GO:0033574 9.46 SRD5A1 SRD5A2
10 sex differentiation GO:0007548 9.43 SRD5A1 SRD5A2
11 male genitalia development GO:0030539 9.4 SRD5A1 SRD5A2
12 androgen metabolic process GO:0008209 9.37 SRD5A1 SRD5A2
13 hypothalamus development GO:0021854 9.32 SRD5A1 SRD5A2
14 androgen biosynthetic process GO:0006702 9.26 SRD5A1 SRD5A2
15 progesterone metabolic process GO:0042448 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 cholestenone 5-alpha-reductase activity GO:0047751 8.96 SRD5A1 SRD5A2
5 amide binding GO:0033218 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
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40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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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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