MPH
MCID: 17B003
MIFTS: 34

17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency (MPH)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Skin 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 25 75
Pseudohermaphroditism, Male, with Gynecomastia 57 25 75 13
Testosterone 17-Beta-Dehydrogenase Deficiency 25 29 6 40
Neutral 17-Beta-Hydroxysteroid Oxidoreductase Deficiency 57 25 75
17-Ketosteroid Reductase Deficiency of Testis 57 25 75
17-Ksr Deficiency 57 25 75
17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency 53 25
Pseudohermaphroditism Male with Gynecomastia 29 6
46,xy Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency 59
Neutral 17 Beta Hydroxysteroid Oxidoreductase Deficiency 53
17 Alpha Ketosteroid Reductase Deficiency of Testis 53
17 Beta Hydroxysteroid Dehydrogenase Iii Deficiency 53
17-Beta-Hydroxysteroid Dehydrogenase Iii Deficiency 6
17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency 59
Male Pseudoherma-Phroditism with Gynecomastia 53
Male Pseudohermaphrodism with Gynecomastia 75
17-Hydroxysteroid Dehydrogenase Deficiency 73
17-Ketosteroidreductase Deficiency 59
17-Ketoreductase Deficiency 59
17 Alpha Ksr Deficiency 53
Mph 75

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive


HPO:

32
17-beta hydroxysteroid dehydrogenase iii deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 264300
Orphanet 59 ORPHA752
UMLS via Orphanet 74 C0268296
ICD10 via Orphanet 34 E29.1
MeSH 44 D058490
ICD10 33 Q56.1
UMLS 73 C0268296

Summaries for 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency

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)

MalaCards based summary : 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency, also known as pseudohermaphroditism, male, with gynecomastia, is related to attention deficit-hyperactivity disorder and gynecomastia. An important gene associated with 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency is HSD17B3 (Hydroxysteroid 17-Beta Dehydrogenase 3). Affiliated tissues include testes, prostate and testis, and related phenotypes are hypothyroidism and cryptorchidism

Genetics Home Reference : 25 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.

NIH Rare Diseases : 53 17-beta hydroxysteroid dehydrogenase 3 deficiencyis 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.

UniProtKB/Swiss-Prot : 75 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 all 24)
# Related Disease Score Top Affiliating Genes
1 attention deficit-hyperactivity disorder 10.2
2 gynecomastia 10.1
3 pseudohermaphroditism 10.1
4 galactorrhea 10.0
5 pseudomyxoma peritonei 10.0
6 multiple sclerosis 9.9
7 frasier syndrome 9.9
8 scoliosis, isolated 1 9.9
9 arts syndrome 9.9
10 myopathy, myosin storage, autosomal dominant 9.9
11 arthritis 9.9
12 scoliosis 9.9
13 idiopathic scoliosis 9.9
14 rabies 9.9
15 lyme disease 9.9
16 thrombocytosis 9.9
17 dystonia 9.9
18 septic arthritis 9.9
19 herpes simplex 9.9
20 developmental coordination disorder 9.9
21 eosinophilia-myalgia syndrome 9.9
22 brainstem auditory evoked responses 9.9
23 igg4-related disease 9.9
24 developmental dyspraxia 9.9

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
2 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
3 hypogonadotrophic hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000044
4 gynecomastia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000771
5 male pseudohermaphroditism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000037
6 ambiguous genitalia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000062
7 infertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000789
8 abnormality of the urethra 59 32 hallmark (90%) Very frequent (99-80%) HP:0000795
9 abnormality of metabolism/homeostasis 32 HP:0001939

Drugs & Therapeutics for 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Mutation Analysis of 17βhydroxysteroid Dehydrogenase 3 Deficiency Unknown status NCT00173654

Search 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:

41
Testes, Prostate, Testis, Skin, Thyroid

Publications for 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency

Articles related to 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency:

# Title Authors Year
1
Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency. ( 25536660 )
2015

Variations for 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency

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

75 (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

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

6 (show top 50) (show all 51)
# Gene Variation Type Significance SNP ID Assembly Location
1 HSD17B3 NM_000197.1(HSD17B3): c.695C> T (p.Ser232Leu) single nucleotide variant Pathogenic rs28939085 GRCh37 Chromosome 9, 99003167: 99003167
2 HSD17B3 NM_000197.1(HSD17B3): c.695C> T (p.Ser232Leu) single nucleotide variant Pathogenic rs28939085 GRCh38 Chromosome 9, 96240885: 96240885
3 HSD17B3 NM_000197.1(HSD17B3): c.703A> G (p.Met235Val) single nucleotide variant Pathogenic rs119481074 GRCh37 Chromosome 9, 99003159: 99003159
4 HSD17B3 NM_000197.1(HSD17B3): c.703A> G (p.Met235Val) single nucleotide variant Pathogenic rs119481074 GRCh38 Chromosome 9, 96240877: 96240877
5 HSD17B3 NM_000197.1(HSD17B3): c.239G> A (p.Arg80Gln) single nucleotide variant Pathogenic rs119481075 GRCh37 Chromosome 9, 99017188: 99017188
6 HSD17B3 NM_000197.1(HSD17B3): c.239G> A (p.Arg80Gln) single nucleotide variant Pathogenic rs119481075 GRCh38 Chromosome 9, 96254906: 96254906
7 HSD17B3 NM_000197.1(HSD17B3): c.608C> T (p.Ala203Val) single nucleotide variant Pathogenic rs119481076 GRCh37 Chromosome 9, 99006675: 99006675
8 HSD17B3 NM_000197.1(HSD17B3): c.608C> T (p.Ala203Val) single nucleotide variant Pathogenic rs119481076 GRCh38 Chromosome 9, 96244393: 96244393
9 HSD17B3 HSD17B3, IVS3AS, G-C, -1 single nucleotide variant Pathogenic
10 HSD17B3 NM_000197.1(HSD17B3): c.238C> T (p.Arg80Trp) single nucleotide variant Likely pathogenic rs119481077 GRCh37 Chromosome 9, 99017189: 99017189
11 HSD17B3 NM_000197.1(HSD17B3): c.238C> T (p.Arg80Trp) single nucleotide variant Likely pathogenic rs119481077 GRCh38 Chromosome 9, 96254907: 96254907
12 HSD17B3 NM_000197.1(HSD17B3): c.607-1G> A single nucleotide variant Pathogenic rs730880305 GRCh37 Chromosome 9, 99006677: 99006677
13 HSD17B3 NM_000197.1(HSD17B3): c.607-1G> A single nucleotide variant Pathogenic rs730880305 GRCh38 Chromosome 9, 96244395: 96244395
14 HSD17B3 NM_000197.1(HSD17B3): c.166G> A (p.Ala56Thr) single nucleotide variant Pathogenic rs119481078 GRCh37 Chromosome 9, 99060733: 99060733
15 HSD17B3 NM_000197.1(HSD17B3): c.166G> A (p.Ala56Thr) single nucleotide variant Pathogenic rs119481078 GRCh38 Chromosome 9, 96298451: 96298451
16 HSD17B3 NM_000197.1(HSD17B3): c.389A> G (p.Asn130Ser) single nucleotide variant Pathogenic rs119481079 GRCh37 Chromosome 9, 99013764: 99013764
17 HSD17B3 NM_000197.1(HSD17B3): c.389A> G (p.Asn130Ser) single nucleotide variant Pathogenic rs119481079 GRCh38 Chromosome 9, 96251482: 96251482
18 HSD17B3 NM_000197.1(HSD17B3): c.803G> A (p.Cys268Tyr) single nucleotide variant Pathogenic rs119481080 GRCh37 Chromosome 9, 99003059: 99003059
19 HSD17B3 NM_000197.1(HSD17B3): c.803G> A (p.Cys268Tyr) single nucleotide variant Pathogenic rs119481080 GRCh38 Chromosome 9, 96240777: 96240777
20 HSD17B3 NM_000197.1(HSD17B3): c.277+4A> T single nucleotide variant Pathogenic rs201115371 GRCh37 Chromosome 9, 99017146: 99017146
21 HSD17B3 NM_000197.1(HSD17B3): c.277+4A> T single nucleotide variant Pathogenic rs201115371 GRCh38 Chromosome 9, 96254864: 96254864
22 HSD17B3 NM_000197.1(HSD17B3): c.865G> A (p.Gly289Ser) single nucleotide variant Likely benign rs2066479 GRCh37 Chromosome 9, 98997810: 98997810
23 HSD17B3 NM_000197.1(HSD17B3): c.865G> A (p.Gly289Ser) single nucleotide variant Likely benign rs2066479 GRCh38 Chromosome 9, 96235528: 96235528
24 HSD17B3 NM_000197.1(HSD17B3): c.-39A> G single nucleotide variant Benign rs2066474 GRCh37 Chromosome 9, 99064425: 99064425
25 HSD17B3 NM_000197.1(HSD17B3): c.-39A> G single nucleotide variant Benign rs2066474 GRCh38 Chromosome 9, 96302143: 96302143
26 HSD17B3 NM_000197.1(HSD17B3): c.199G> A (p.Glu67Lys) single nucleotide variant Uncertain significance rs1017003712 GRCh37 Chromosome 9, 99060700: 99060700
27 HSD17B3 NM_000197.1(HSD17B3): c.199G> A (p.Glu67Lys) single nucleotide variant Uncertain significance rs1017003712 GRCh38 Chromosome 9, 96298418: 96298418
28 HSD17B3 NM_000197.1(HSD17B3): c.195G> A (p.Ser65=) single nucleotide variant Likely benign rs2066478 GRCh37 Chromosome 9, 99060704: 99060704
29 HSD17B3 NM_000197.1(HSD17B3): c.195G> A (p.Ser65=) single nucleotide variant Likely benign rs2066478 GRCh38 Chromosome 9, 96298422: 96298422
30 HSD17B3 NM_000197.1(HSD17B3): c.489+9T> C single nucleotide variant Uncertain significance rs370307178 GRCh37 Chromosome 9, 99012024: 99012024
31 HSD17B3 NM_000197.1(HSD17B3): c.489+9T> C single nucleotide variant Uncertain significance rs370307178 GRCh38 Chromosome 9, 96249742: 96249742
32 HSD17B3 NM_000197.1(HSD17B3): c.333C> T (p.Asp111=) single nucleotide variant Uncertain significance rs35189151 GRCh37 Chromosome 9, 99015137: 99015137
33 HSD17B3 NM_000197.1(HSD17B3): c.333C> T (p.Asp111=) single nucleotide variant Uncertain significance rs35189151 GRCh38 Chromosome 9, 96252855: 96252855
34 HSD17B3 NM_000197.1(HSD17B3): c.-34C> T single nucleotide variant Uncertain significance rs759418931 GRCh37 Chromosome 9, 99064420: 99064420
35 HSD17B3 NM_000197.1(HSD17B3): c.-34C> T single nucleotide variant Uncertain significance rs759418931 GRCh38 Chromosome 9, 96302138: 96302138
36 HSD17B3 NM_000197.1(HSD17B3): c.9C> T (p.Asp3=) single nucleotide variant Uncertain significance rs139582148 GRCh37 Chromosome 9, 99064378: 99064378
37 HSD17B3 NM_000197.1(HSD17B3): c.9C> T (p.Asp3=) single nucleotide variant Uncertain significance rs139582148 GRCh38 Chromosome 9, 96302096: 96302096
38 HSD17B3 NM_000197.1(HSD17B3): c.-10G> C single nucleotide variant Likely benign rs2066484 GRCh37 Chromosome 9, 99064396: 99064396
39 HSD17B3 NM_000197.1(HSD17B3): c.-10G> C single nucleotide variant Likely benign rs2066484 GRCh38 Chromosome 9, 96302114: 96302114
40 HSD17B3 NM_000197.1(HSD17B3): c.-29A> G single nucleotide variant Likely benign rs2066476 GRCh37 Chromosome 9, 99064415: 99064415
41 HSD17B3 NM_000197.1(HSD17B3): c.-29A> G single nucleotide variant Likely benign rs2066476 GRCh38 Chromosome 9, 96302133: 96302133
42 HSD17B3 NM_000197.1(HSD17B3): c.880C> T (p.Leu294=) single nucleotide variant Uncertain significance rs762619509 GRCh37 Chromosome 9, 98997795: 98997795
43 HSD17B3 NM_000197.1(HSD17B3): c.880C> T (p.Leu294=) single nucleotide variant Uncertain significance rs762619509 GRCh38 Chromosome 9, 96235513: 96235513
44 HSD17B3 NM_000197.1(HSD17B3): c.91G> A (p.Val31Ile) single nucleotide variant Likely benign rs2066480 GRCh37 Chromosome 9, 99064296: 99064296
45 HSD17B3 NM_000197.1(HSD17B3): c.91G> A (p.Val31Ile) single nucleotide variant Likely benign rs2066480 GRCh38 Chromosome 9, 96302014: 96302014
46 HSD17B3 NM_000197.1(HSD17B3): c.-6G> A single nucleotide variant Uncertain significance rs200708778 GRCh37 Chromosome 9, 99064392: 99064392
47 HSD17B3 NM_000197.1(HSD17B3): c.-6G> A single nucleotide variant Uncertain significance rs200708778 GRCh38 Chromosome 9, 96302110: 96302110
48 HSD17B3 NM_000197.1(HSD17B3): c.599C> T (p.Ala200Val) single nucleotide variant Likely pathogenic rs142236065 GRCh38 Chromosome 9, 96245352: 96245352
49 HSD17B3 NM_000197.1(HSD17B3): c.599C> T (p.Ala200Val) single nucleotide variant Likely pathogenic rs142236065 GRCh37 Chromosome 9, 99007634: 99007634
50 HSD17B3 NM_000197.1(HSD17B3): c.221A> C (p.Asn74Thr) single nucleotide variant Likely pathogenic rs780178733 GRCh38 Chromosome 9, 96254924: 96254924

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

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