MPH
MCID: 17B003
MIFTS: 37

17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency (MPH)

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

Aliases & Classifications for 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency

MalaCards integrated aliases for 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency:

Name: 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 57 43 72
Neutral 17-Beta-Hydroxysteroid Oxidoreductase Deficiency 57 12 43 72
Pseudohermaphroditism, Male, with Gynecomastia 57 43 72 13
Testosterone 17-Beta-Dehydrogenase Deficiency 43 29 6 39
17-Ksr Deficiency 57 12 43 72
17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency 12 20 43
17-Ketosteroid Reductase Deficiency of Testis 57 43 72
46,xy Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency 12 58
17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency 12 58
Pseudohermaphroditism Male with Gynecomastia 29 6
17-Ketosteroidreductase Deficiency 12 58
17-Ketoreductase Deficiency 12 58
Neutral 17 Beta Hydroxysteroid Oxidoreductase Deficiency 20
17 Alpha Ketosteroid Reductase Deficiency of Testis 20
17 Beta Hydroxysteroid Dehydrogenase Iii Deficiency 20
17-Beta-Hydroxysteroid Dehydrogenase Iii Deficiency 6
Male Pseudoherma-Phroditism with Gynecomastia 20
Male Pseudohermaphroditism with Gynecomastia 12
Male Pseudohermaphrodism with Gynecomastia 72
17-Hydroxysteroid Dehydrogenase Deficiency 70
17 Alpha Ksr Deficiency 20
Mph 72

Characteristics:

Orphanet epidemiological data:

58
46,xy disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Netherlands),>1/1000; Age of onset: Adolescent,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
17-beta hydroxysteroid dehydrogenase iii deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0112248
OMIM® 57 264300
MeSH 44 D058490
ICD10 via Orphanet 33 E29.1
UMLS via Orphanet 71 C0268296
Orphanet 58 ORPHA752
UMLS 70 C0268296

Summaries for 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency

MedlinePlus Genetics : 43 17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. 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 male sex hormone (androgen) called testosterone. Testosterone has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth.Most people with 17-beta hydroxysteroid dehydrogenase 3 deficiency are born with external genitalia that appear female. In some cases, the external genitalia do not look clearly male or clearly female (sometimes called ambiguous genitalia). Still other affected infants have genitalia that appear predominantly male, often with an unusually small penis (micropenis) or the urethra opening on the underside of the penis (hypospadias).During puberty, people with this condition develop some male secondary sex characteristics, such as increased muscle mass, deepening of the voice, and development of male pattern facial and body hair. In addition to these changes typical of adolescent boys, some affected individuals may also experience breast enlargement (gynecomastia). Despite having testes, people with this disorder are generally unable to father children (infertile).Children with 17-beta hydroxysteroid dehydrogenase 3 deficiency are often raised as girls. About half of these individuals adopt a male gender role in adolescence or early adulthood.

MalaCards based summary : 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency, also known as neutral 17-beta-hydroxysteroid oxidoreductase deficiency, is related to attention deficit-hyperactivity disorder and autosomal recessive disease. An important gene associated with 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency is HSD17B3 (Hydroxysteroid 17-Beta Dehydrogenase 3). Affiliated tissues include prostate, testes and testis, and related phenotypes are cryptorchidism and gynecomastia

Disease Ontology : 12 A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has material basis in homozygous or compound heterozygous mutation of HSD17B3 on chromosome 9q22.

GARD : 20 17-beta hydroxysteroid dehydrogenase 3 deficiency is an inherited condition that affects male sexual development. People with this condition are genetically male and have testes, but do not produce enough testosterone. Most people with this condition are born with external genitalia that appear female. In some cases, the external genitalia are ambiguous or appear male but are abnormal in size and/or appearance. During puberty, people with this condition typically go on to develop male secondary sex characteristics, such as increased muscle mass, deepening of the voice, and development of male pattern body hair. 17-beta hydroxysteroid dehydrogenase 3 deficiency is caused by mutations in the HSD17B3 gene and is inherited in an autosomal recessive pattern.

OMIM® : 57 HSD17B3 deficiency is an autosomal recessive disorder that manifests, in males, as undermasculinization characterized by hypoplastic-to-normal internal genitalia (epididymis, vas deferens, seminal vesicles, and ejaculatory ducts) but female external genitalia and the absence of a prostate. This phenotype is caused by inadequate testicular synthesis of testosterone, which, in turn, results in insufficient formation of dihydrotestosterone in the anlage of the external genitalia and prostate during fetal development. At the expected time of puberty, there is a marked increase in plasma leuteinizing hormone and, consequently, in testicular secretion of androstenedione. Hence, a diagnostic hallmark of this disorder is a decreased plasma testosterone-to-androstenedione ratio. Significant amounts of the circulating androstenedione are, however, converted to testosterone, in peripheral tissues, thereby causing virilization (summary by Lindqvist et al., 2001). (264300) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Male pseudohermaphrodism with gynecomastia: An autosomal recessive disorder that manifests, in males, as undermasculinization characterized by hypoplastic-to-normal internal genitalia (epididymis, vas deferens, seminal vesicles, and ejaculatory ducts) but female external genitalia and the absence of a prostate. This phenotype is caused by inadequate testicular synthesis of testosterone, which, in turn, results in insufficient formation of dihydrotestosterone in the anlage of the external genitalia and prostate during fetal development. At the expected time of puberty, there is a marked increase in plasma leuteinizing hormone and, consequently, in testicular secretion of androstenedione. Hence, a diagnostic hallmark of this disorder is a decreased plasma testosterone-to-androstenedione ratio. Significant amounts of the circulating androstenedione are, however, converted to testosterone, in peripheral tissues, thereby causing virilization.

Related Diseases for 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency

Diseases related to 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 attention deficit-hyperactivity disorder 10.5
2 autosomal recessive disease 10.2
3 hypospadias 10.2
4 cryptorchidism, unilateral or bilateral 10.1
5 congenital hypothyroidism 10.1
6 infant gynecomastia 10.1
7 gynecomastia 10.1
8 hypothyroidism 10.1
9 pseudohermaphroditism 10.1
10 arthritis 10.0
11 galactorrhea 10.0
12 arts syndrome 10.0
13 tic disorder 10.0
14 osteoarthritis 10.0
15 scoliosis, isolated 1 9.8
16 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.8
17 body mass index quantitative trait locus 11 9.8
18 body mass index quantitative trait locus 9 9.8
19 body mass index quantitative trait locus 8 9.8
20 body mass index quantitative trait locus 4 9.8
21 body mass index quantitative trait locus 10 9.8
22 myopathy, myosin storage, autosomal dominant 9.8
23 body mass index quantitative trait locus 7 9.8
24 major affective disorder 8 9.8
25 body mass index quantitative trait locus 12 9.8
26 major affective disorder 9 9.8
27 body mass index quantitative trait locus 14 9.8
28 microvascular complications of diabetes 5 9.8
29 body mass index quantitative trait locus 18 9.8
30 helix syndrome 9.8
31 body mass index quantitative trait locus 19 9.8
32 disease by infectious agent 9.8
33 korean hemorrhagic fever 9.8
34 oppositional defiant disorder 9.8
35 autism spectrum disorder 9.8
36 sexual disorder 9.8
37 pain agnosia 9.8
38 scoliosis 9.8
39 idiopathic scoliosis 9.8
40 mucositis 9.8
41 igg4-related disease 9.8
42 covid-19 9.8
43 rabies 9.8
44 hantavirus hemorrhagic fever with renal syndrome 9.8
45 diphtheria 9.8
46 lyme disease 9.8
47 conduct disorder 9.8
48 cholera 9.8
49 thrombocytosis 9.8
50 substance abuse 9.8

Graphical network of the top 20 diseases related to 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency:



Diseases related to 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency

Symptoms & Phenotypes for 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency

Human phenotypes related to 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
2 gynecomastia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000771
3 male pseudohermaphroditism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000037
4 ambiguous genitalia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000062
5 infertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000789
6 abnormality of the urethra 58 31 hallmark (90%) Very frequent (99-80%) HP:0000795
7 hypogonadotropic hypogonadism 31 hallmark (90%) HP:0000044
8 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
9 female external genitalia in individual with 46,xy karyotype 31 very rare (1%) HP:0008730
10 hypogonadotrophic hypogonadism 58 Very frequent (99-80%)
11 abnormality of metabolism/homeostasis 31 HP:0001939

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Endocrine Features:
hypothyroidism
infertility

Genitourinary External Genitalia Male:
female-appearing genitalia at birth
normal virilization at puberty

Laboratory Abnormalities:
17-ketosteroid reductase defect
thyroid dyshormogenesis
abnormally high delta(4)-a to t ratio in plasma
46,xy karyotype

Chest Breasts:
gynecomastia (in some patients)

Genitourinary Internal Genitalia Male:
inguinal testes

Clinical features from OMIM®:

264300 (Updated 05-Apr-2021)

Drugs & Therapeutics for 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency

Search Clinical Trials , NIH Clinical Center for 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency

Genetic Tests for 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency

Genetic tests related to 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency:

# Genetic test Affiliating Genes
1 Testosterone 17-Beta-Dehydrogenase Deficiency 29 HSD17B3
2 Pseudohermaphroditism Male with Gynecomastia 29

Anatomical Context for 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency

MalaCards organs/tissues related to 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency:

40
Prostate, Testes, Testis, Thyroid

Publications for 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency

Articles related to 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency:

(show all 27)
# Title Authors PMID Year
1
Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. 57 6
11158067 2001
2
17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations. 57 6
10599740 1999
3
Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. 57 6
8550739 1996
4
Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3. 6 57
8075637 1994
5
The nature of the defect in familial male pseudohermaphroditism in Arabs of Gaza. 6 57
2918056 1989
6
Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy? 6
24025597 2013
7
Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency. 6
23295294 2012
8
Isolated mild clitoral hypertrophy may reveal 46,XY disorders of sex development in infancy due to 17βHSD-3 defect confirmed by molecular analysis. 6
21214500 2011
9
17-β-hydroxysteroid dehydrogenase type 3 deficiency in three adult Iranian siblings. 6
22212252 2011
10
17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence. 6
19498320 2009
11
17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite. 6
17509588 2008
12
A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism. 6
9758445 1998
13
Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3). 6
9709959 1998
14
The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred. 6
9467575 1998
15
A (R80Q) mutation in 17 beta-hydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females. 6
8626842 1996
16
Male hypogonadism with gynecomastia caused by late-onset deficiency of testicular 17-ketosteroid reductase. 57
8469252 1993
17
Ovarian 17-ketosteroid reductase deficiency as a possible cause of polycystic ovarian disease. 57
2166066 1990
18
Hirsutism, polycystic ovarian disease, and ovarian 17-ketosteroid reductase deficiency. 57
3472077 1987
19
Familial male pseudohermaphroditism with gynaecomastia due to 17 beta-hydroxysteroid dehydrogenase deficiency. A report of 3 cases. 57
2998649 1985
20
Sibship with 17-ketosteroid reductase (17-KSR) deficiency and hypothyroidism. Lack of linkage of histocompatibility leucocyte antigen and 17-KSR loci. 57
6574136 1983
21
Male pseudohermaphroditism secondary to 17 beta-hydroxysteroid dehydrogenase deficiency: gender role change with puberty. 57
468973 1979
22
Male pseudohermaphroditism with gynaecomastia due to testicular 17-ketosteroid reductase deficiency. 6
598011 1977
23
Familial male pseudohermaphroditism without gynecomastia due to deficient testicular 17-ketosteroid reductase activity. 57
4278097 1974
24
Male pseudohermaphroditism due to testicular 17 -hydroxysteroid dehydrogenase deficiency. 57
4349047 1973
25
Further in vivo studies in male pseudohermaphroditism with gynecomastia due to a testicular 17-ketosteroid reductase defect (compared to a case of testicular feminization). 57
4258797 1972
26
Familial male pseudohermaphroditism with gynecomastia due to a testicular 17-ketosteroid reductase defect. I. Studies in vivo. 57
4252809 1971
27
Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency. 61
25536660 2015

Variations for 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency

ClinVar genetic disease variations for 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency:

6 (show all 41)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HSD17B3 HSD17B3, IVS3AS, G-C, -1 SNV Pathogenic 4876 GRCh37:
GRCh38:
2 HSD17B3 NM_000197.2(HSD17B3):c.695C>T (p.Ser232Leu) SNV Pathogenic 4872 rs28939085 GRCh37: 9:99003167-99003167
GRCh38: 9:96240885-96240885
3 HSD17B3 NM_000197.2(HSD17B3):c.703A>G (p.Met235Val) SNV Pathogenic 4873 rs119481074 GRCh37: 9:99003159-99003159
GRCh38: 9:96240877-96240877
4 HSD17B3 NM_000197.2(HSD17B3):c.608C>T (p.Ala203Val) SNV Pathogenic 4875 rs119481076 GRCh37: 9:99006675-99006675
GRCh38: 9:96244393-96244393
5 HSD17B3 NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp) SNV Pathogenic 4877 rs119481077 GRCh37: 9:99017189-99017189
GRCh38: 9:96254907-96254907
6 HSD17B3 NM_000197.2(HSD17B3):c.607-1G>A SNV Pathogenic 4878 rs730880305 GRCh37: 9:99006677-99006677
GRCh38: 9:96244395-96244395
7 HSD17B3 NM_000197.2(HSD17B3):c.166G>A (p.Ala56Thr) SNV Pathogenic 4879 rs119481078 GRCh37: 9:99060733-99060733
GRCh38: 9:96298451-96298451
8 HSD17B3 NM_000197.2(HSD17B3):c.389A>G (p.Asn130Ser) SNV Pathogenic 4880 rs119481079 GRCh37: 9:99013764-99013764
GRCh38: 9:96251482-96251482
9 HSD17B3 NM_000197.2(HSD17B3):c.803G>A (p.Cys268Tyr) SNV Pathogenic 4881 rs119481080 GRCh37: 9:99003059-99003059
GRCh38: 9:96240777-96240777
10 HSD17B3 NM_000197.2(HSD17B3):c.239G>A (p.Arg80Gln) SNV Pathogenic 4874 rs119481075 GRCh37: 9:99017188-99017188
GRCh38: 9:96254906-96254906
11 HSD17B3 NM_000197.2(HSD17B3):c.277+4A>T SNV Pathogenic 208587 rs201115371 GRCh37: 9:99017146-99017146
GRCh38: 9:96254864-96254864
12 HSD17B3 NM_000197.2(HSD17B3):c.192C>G (p.Tyr64Ter) SNV Pathogenic 1032252 GRCh37: 9:99060707-99060707
GRCh38: 9:96298425-96298425
13 HSD17B3 NM_000197.2(HSD17B3):c.239G>A (p.Arg80Gln) SNV Likely pathogenic 4874 rs119481075 GRCh37: 9:99017188-99017188
GRCh38: 9:96254906-96254906
14 HSD17B3 NM_000197.2(HSD17B3):c.221A>C (p.Asn74Thr) SNV Likely pathogenic 435473 rs780178733 GRCh37: 9:99017206-99017206
GRCh38: 9:96254924-96254924
15 HSD17B3 NM_000197.2(HSD17B3):c.599C>T (p.Ala200Val) SNV Likely pathogenic 435472 rs142236065 GRCh37: 9:99007634-99007634
GRCh38: 9:96245352-96245352
16 HSD17B3 NM_000197.2(HSD17B3):c.*148C>A SNV Uncertain significance 912335 GRCh37: 9:98997594-98997594
GRCh38: 9:96235312-96235312
17 HSD17B3 NM_000197.2(HSD17B3):c.*1C>T SNV Uncertain significance 912336 GRCh37: 9:98997741-98997741
GRCh38: 9:96235459-96235459
18 HSD17B3 NM_000197.2(HSD17B3):c.9C>T (p.Asp3=) SNV Uncertain significance 367685 rs139582148 GRCh37: 9:99064378-99064378
GRCh38: 9:96302096-96302096
19 HSD17B3-AS1 , HSD17B3 NM_000197.2(HSD17B3):c.489+9T>C SNV Uncertain significance 367680 rs370307178 GRCh37: 9:99012024-99012024
GRCh38: 9:96249742-96249742
20 HSD17B3 NM_000197.2(HSD17B3):c.663C>T (p.Val221=) SNV Uncertain significance 913467 GRCh37: 9:99006620-99006620
GRCh38: 9:96244338-96244338
21 HSD17B3 NM_000197.2(HSD17B3):c.641A>G (p.Glu214Gly) SNV Uncertain significance 913468 GRCh37: 9:99006642-99006642
GRCh38: 9:96244360-96244360
22 HSD17B3 NM_000197.2(HSD17B3):c.540C>T (p.Ile180=) SNV Uncertain significance 913469 GRCh37: 9:99007693-99007693
GRCh38: 9:96245411-96245411
23 HSD17B3-AS1 , HSD17B3 NM_000197.2(HSD17B3):c.490-4G>T SNV Uncertain significance 913470 GRCh37: 9:99008876-99008876
GRCh38: 9:96246594-96246594
24 HSD17B3 NM_000197.2(HSD17B3):c.441G>A (p.Pro147=) SNV Uncertain significance 913471 GRCh37: 9:99013712-99013712
GRCh38: 9:96251430-96251430
25 HSD17B3 NM_000197.2(HSD17B3):c.435C>T (p.Asn145=) SNV Uncertain significance 913472 GRCh37: 9:99013718-99013718
GRCh38: 9:96251436-96251436
26 HSD17B3 NM_000197.2(HSD17B3):c.386-5G>A SNV Uncertain significance 913473 GRCh37: 9:99013772-99013772
GRCh38: 9:96251490-96251490
27 HSD17B3 NM_000197.2(HSD17B3):c.328G>T (p.Asp110Tyr) SNV Uncertain significance 913849 GRCh37: 9:99015142-99015142
GRCh38: 9:96252860-96252860
28 HSD17B3 NM_000197.2(HSD17B3):c.278-6G>C SNV Uncertain significance 913850 GRCh37: 9:99015198-99015198
GRCh38: 9:96252916-96252916
29 HSD17B3 NM_000197.2(HSD17B3):c.133C>T (p.Arg45Trp) SNV Uncertain significance 708567 rs139084702 GRCh37: 9:99064254-99064254
GRCh38: 9:96301972-96301972
30 HSD17B3 NM_000197.2(HSD17B3):c.880C>T (p.Leu294=) SNV Uncertain significance 367679 rs762619509 GRCh37: 9:98997795-98997795
GRCh38: 9:96235513-96235513
31 HSD17B3 NM_000197.2(HSD17B3):c.-6G>A SNV Uncertain significance 367686 rs200708778 GRCh37: 9:99064392-99064392
GRCh38: 9:96302110-96302110
32 HSD17B3 NM_000197.2(HSD17B3):c.-34C>T SNV Uncertain significance 367689 rs759418931 GRCh37: 9:99064420-99064420
GRCh38: 9:96302138-96302138
33 HSD17B3 NM_000197.2(HSD17B3):c.199G>A (p.Glu67Lys) SNV Uncertain significance 367682 rs1017003712 GRCh37: 9:99060700-99060700
GRCh38: 9:96298418-96298418
34 HSD17B3 NM_000197.2(HSD17B3):c.333C>T (p.Asp111=) SNV Likely benign 367681 rs35189151 GRCh37: 9:99015137-99015137
GRCh38: 9:96252855-96252855
35 HSD17B3 NM_000197.2(HSD17B3):c.195G>A (p.Ser65=) SNV Benign 367683 rs2066478 GRCh37: 9:99060704-99060704
GRCh38: 9:96298422-96298422
36 HSD17B3 NM_000197.2(HSD17B3):c.865G>A (p.Gly289Ser) SNV Benign 255511 rs2066479 GRCh37: 9:98997810-98997810
GRCh38: 9:96235528-96235528
37 HSD17B3 NM_000197.2(HSD17B3):c.-10G>C SNV Benign 367687 rs2066484 GRCh37: 9:99064396-99064396
GRCh38: 9:96302114-96302114
38 HSD17B3 NM_000197.2(HSD17B3):c.91G>A (p.Val31Ile) SNV Benign 367684 rs2066480 GRCh37: 9:99064296-99064296
GRCh38: 9:96302014-96302014
39 HSD17B3 NM_000197.2(HSD17B3):c.-39A>G SNV Benign 255507 rs2066474 GRCh37: 9:99064425-99064425
GRCh38: 9:96302143-96302143
40 HSD17B3 NM_000197.2(HSD17B3):c.-29A>G SNV Benign 367688 rs2066476 GRCh37: 9:99064415-99064415
GRCh38: 9:96302133-96302133
41 HSD17B3 NM_000197.2(HSD17B3):c.804C>T (p.Cys268=) SNV Benign 720400 rs8190555 GRCh37: 9:99003058-99003058
GRCh38: 9:96240776-96240776

UniProtKB/Swiss-Prot genetic disease variations for 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency:

72 (show all 15)
# Symbol AA change Variation ID SNP ID
1 HSD17B3 p.Arg80Gln VAR_006953 rs119481075
2 HSD17B3 p.Arg80Trp VAR_006954 rs119481077
3 HSD17B3 p.Ala203Val VAR_006955 rs119481076
4 HSD17B3 p.Ser232Leu VAR_006956 rs28939085
5 HSD17B3 p.Met235Val VAR_006957 rs119481074
6 HSD17B3 p.Ala56Thr VAR_016067 rs119481078
7 HSD17B3 p.Ser65Leu VAR_016068 rs747329682
8 HSD17B3 p.Asn130Ser VAR_016069 rs119481079
9 HSD17B3 p.Gln176Pro VAR_016070 rs767259718
10 HSD17B3 p.Val205Glu VAR_016071 rs372027264
11 HSD17B3 p.Phe208Ile VAR_016072
12 HSD17B3 p.Cys268Tyr VAR_016073 rs119481080
13 HSD17B3 p.Pro282Leu VAR_016074 rs144809928
14 HSD17B3 p.Glu215Asp VAR_016203 rs115063639
15 HSD17B3 p.Gly133Arg VAR_075369 rs747724352

Expression for 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency

Search GEO for disease gene expression data for 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency.

Pathways for 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency

GO Terms for 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency

Sources for 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
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69 Tocris
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71 UMLS via Orphanet
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