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LCH
MCID: LYD011
MIFTS: 45

Leydig Cell Hypoplasia (LCH)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Leydig Cell Hypoplasia

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MalaCards integrated aliases for Leydig Cell Hypoplasia:

Name: Leydig Cell Hypoplasia 11 19 42 58 43 14 71 75
46,xy Disorder of Sex Development Due to Luteinizing Hormone Resistance or Luteinizing Hormone Beta Subunit Deficiency 11 19 58
46,xy Dsd Due to Luteinizing Hormone Resistance or Luteinizing Hormone Beta Subunit Deficiency 11 19 58
46,xy Disorder of Sex Development Due to Lh Resistance or Lhb Deficiency 11 19 58
46,xy Dsd Due to Lh Resistance or Lhb Deficiency 11 19 58
Male Hypergonadotropic Hypogonadism Due to Lhcgr Defect 19 42
46,xy Disorder of Sex Development Due to Lh Defects 19 42
Lh Resistance Due to Lh Receptor Deactivation 19 42
Leydig Cell Agenesis 19 42
Male Pseudohermaphroditism Due to Luteinizing Hormone Resistance or Luteinizing Hormone Beta Subunit Deficiency 19
Male Pseudohermaphroditism Due to Lh Resistance or Lhb Deficiency 19
Hypoplasia, Leydig Cell 38
Lch 42

Characteristics:


Age Of Onset:

Neonatal 58

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Reproductive diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare infertility disorders
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0112259
MeSH 43 C562567
ICD10 via Orphanet 32 Q56.1
UMLS via Orphanet 72 C0860158
Orphanet 58 ORPHA755
UMLS 71 C0860158
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Summaries for Leydig Cell Hypoplasia

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GARD: 19 Leydig cell hypoplasia (LCH) is a disorder that impairs male sexual development. It causes incomplete development of Leydig cells, which are cells in the testicles (testes) that secrete male sex hormones (androgens). These hormones are needed for normal male sexual development as reproductive organs are forming (before birth), as well as during puberty. A genetic male with LCH has typical male chromosomes (46, XY), but due to low androgen levels, may have a range of genital differences. In a genetic male with LCH, the external genitalia may not look clearly male or female (ambiguous genitalia). Specific features of LCH may include a small penis (micropenis), a urethra opening (hole) on the underside of the penis rather than at the tip (hypospadias), and a scrotum that is divided into two halves (bifid scrotum). A person with a severe form of LCH may have only female external genitalia, and small undescended testes (located in the pelvis, abdomen, or groin). Males with severe LCH may not develop secondary sex characteristics during puberty, such as increased body hair, facial hair, and a deeper voice. LCH is caused by genetic changes in the LHCGR gene and inheritance is autosomal recessive. Of note: Genetic females (46, XX) can also inherit the genetic changes that cause LCH in males. Females with these genetic changes have normal female external genitalia and normal female development during puberty, but may have amenorrhea (absent periods) and infertility.

MalaCards based summary: Leydig Cell Hypoplasia, also known as 46,xy disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency, is related to leydig cell hypoplasia type ii and hypogonadotropic hypogonadism 23 with or without anosmia. An important gene associated with Leydig Cell Hypoplasia is LHCGR (Luteinizing Hormone/Choriogonadotropin Receptor), and among its related pathways/superpathways are Class A/1 (Rhodopsin-like receptors) and Metabolism of steroids. Affiliated tissues include testes, breast and uterus, and related phenotypes are delayed skeletal maturation and cryptorchidism

MedlinePlus Genetics: 42 Leydig cell hypoplasia is a condition that affects male sexual development. It is characterized by underdevelopment (hypoplasia) of Leydig cells in the testes. Leydig cells secrete male sex hormones (androgens) that are important for normal male sexual development before birth and during puberty.In Leydig cell hypoplasia, affected individuals with a typical male chromosomal pattern (46,XY) may have a range of genital abnormalities. Affected males may have a small penis (micropenis), the opening of the urethra on the underside of the penis (hypospadias), or a scrotum divided into two lobes (bifid scrotum). Because of these abnormalities, the external genitalia may not look clearly male or clearly female (ambiguous genitalia).In more severe cases of Leydig cell hypoplasia, people with a typical male chromosomal pattern (46,XY) have female external genitalia. They have small testes that are undescended, which means they are abnormally located in the pelvis, abdomen, or groin. People with this form of the disorder do not develop secondary sex characteristics, such as increased body hair, at puberty. Some researchers refer to this form of Leydig cell hypoplasia as type 1 and designate less severe cases as type 2.

Orphanet: 58 A rare, 46,XY disorder of sex development due to impaired androgen production characterized by impaired normal male sexual development. The severity of the disorder varies and can manifest in its severe form with complete 46,XY male pseudohermaphroditism, including low testosterone and high luteinizing hormone levels, absent development of secondary male sex characteristics and lack of breast development. Patients with the milder form can have a wider range of phenotypes, ranging from micropenis to severe hypospadias.

Disease Ontology: 11 A pseudohermaphroditism that has material basis in homozygous or compound heterozygous mutation in LHCGR on chromosome 2p16.3.

Wikipedia: 75 Leydig cell hypoplasia (or aplasia) (LCH), also known as Leydig cell agenesis, is a rare autosomal... more...
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Related Diseases for Leydig Cell Hypoplasia

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Diseases in the Leydig Cell Hypoplasia family:

Leydig Cell Hypoplasia, Type I Leydig Cell Hypoplasia Type Ii

Diseases related to Leydig Cell Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 189)
# Related Disease Score Top Affiliating Genes
1 leydig cell hypoplasia type ii 33.0 LHCGR GNRH1
2 hypogonadotropic hypogonadism 23 with or without anosmia 32.3 GNRHR GNRH1 EPPIN
3 penis agenesis 30.2 SRD5A2 LHCGR GNRH1 CYP17A1
4 amenorrhea 29.8 NR5A1 LHCGR GNRHR GNRH1 FSHR CYP17A1
5 hypogonadism 29.8 LHCGR KISS1R GNRHR GNRH1
6 hypogonadotropic hypogonadism 7 with or without anosmia 29.5 GNRHR GNRH1
7 inguinal hernia 29.0 SRD5A2 NR5A1 INSL3 HSD17B3 GNRH1 AMH
8 endometriosis 28.9 STAR NR5A1 GNRHR GNRH1 FSHR CYP17A1
9 ovarian disease 28.9 LHCGR HSD3B1 GNRH1 FSHR EPPIN CYP17A1
10 pseudohermaphroditism 27.7 STAR SRD5A2 NR5A1 LHCGR INSL3 HSD3B1
11 premature menopause 27.2 STAR SRD5A2 NR5A1 LHCGR KISS1R INSL3
12 hypogonadotropic hypogonadism 27.0 STAR SRD5A2 NR5A1 LHCGR KISS1R INSL3
13 disorder of sexual development 26.3 STAR SRD5A2 NR5A1 LHCGR KISS1R INSL3
14 cryptorchidism, unilateral or bilateral 26.1 STAR SRD5A2 NR5A1 LHCGR KISS1R INSL3
15 leydig cell hypoplasia, type i 12.1
16 langerhans cell histiocytosis 11.7
17 lissencephaly 2 11.6
18 histiocytosis 11.2
19 letterer-siwe disease 11.1
20 pseudovaginal perineoscrotal hypospadias 10.4
21 46, xy disorders of sexual development 10.3
22 central diabetes insipidus 10.3
23 diabetes insipidus 10.3
24 hermaphroditism 10.3 NR5A1 AMH
25 prostatic cyst 10.3 FSHR EPPIN
26 down syndrome 10.2
27 syndrome with 46,xy disorder of sex development 10.2
28 ovarian sex-cord stromal tumor 10.2 NR5A1 EPPIN
29 freemartinism 10.2 HSD17B3 AMH
30 45,x/46,xy mixed gonadal dysgenesis 10.2 NR5A1 AMH
31 mycetoma 10.2 HSD3B1 CYP17A1
32 juvenile type testicular granulosa cell tumor 10.2 NR5A1 AMH
33 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.1 CYP17A1 CYP11A1
34 46,xy sex reversal 9 10.1 NR5A1 AMH
35 46 xx gonadal dysgenesis 10.1 LHCGR FSHR AMH
36 gonadal dysgenesis 10.1 NR5A1 FSHR AMH
37 ovarian benign neoplasm 10.1 FSHR EPPIN AMH
38 testicular sex cord-stromal neoplasm 10.1 INSL3 HSD3B1
39 testicular leydig cell tumor 10.1 INSL3 HSD3B1
40 exanthem 10.1
41 adrenal adenoma 10.1 EPPIN CYP17A1 CYP11A1
42 genetic non-acquired premature ovarian failure 10.1 NR5A1 FSHR AMH
43 adrenal cortical adenoma 10.1 NR5A1 CYP17A1 CYP11A1
44 46,xx sex reversal 1 10.1 NR5A1 FSHR
45 bronchiectasis 3 10.1 GNRH1 CYP17A1
46 asperger syndrome 10.1 HSD17B3 CYP17A1 CYP11A1
47 corticosterone methyloxidase type i deficiency 10.1 STAR NR5A1 CYP11A1
48 adrenal cortical hypofunction 10.1 STAR NR5A1 CYP11A1
49 luteoma 10.1 STAR EPPIN AMH
50 postmenopausal atrophic vaginitis 10.1 GNRH1 AMH

Graphical network of the top 20 diseases related to Leydig Cell Hypoplasia:



Diseases related to Leydig Cell Hypoplasia
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Symptoms & Phenotypes for Leydig Cell Hypoplasia

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Human phenotypes related to Leydig Cell Hypoplasia:

58 30 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002750
2 cryptorchidism 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000028
3 increased circulating gonadotropin level 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000837
4 primary amenorrhea 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000786
5 micropenis 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000054
6 hypospadias 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000047
7 male pseudohermaphroditism 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000037
8 ambiguous genitalia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000062
9 hypergonadotropic hypogonadism 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000815
10 breast aplasia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0100783
11 aplasia of the uterus 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000151
12 male hypogonadism 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000026
13 primary gonadal insufficiency 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0008193
14 absence of secondary sex characteristics 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0008187
15 female hypogonadism 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000134
16 hyoplasia of the leydig cells 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0010790
17 decreased serum testosterone concentration 30 Hallmark (90%) HP:0040171
18 secondary amenorrhea 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000869
19 testicular gonadoblastoma 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000030
20 abnormal vas deferens morphology 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0012872
21 abnormal external genitalia 58 Very frequent (99-80%)
22 abnormal internal genitalia 58 Very frequent (99-80%)
23 decreased serum testosterone level 58 Very frequent (99-80%)
24 phenotypic abnormality 58 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Leydig Cell Hypoplasia according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.09 AMH CYP11A1 CYP17A1 DHRS11 EPPIN FSHR
2 no effect GR00402-S-2 10.09 AMH CYP11A1 CYP17A1 DHRS11 EPPIN FSHR

MGI Mouse Phenotypes related to Leydig Cell Hypoplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 AMH CYP11A1 CYP17A1 EPPIN FSHR GNRH1
2 growth/size/body region MP:0005378 9.97 AMH CYP11A1 CYP17A1 EPPIN FSHR GNRH1
3 endocrine/exocrine gland MP:0005379 9.77 AMH CYP11A1 EPPIN FSHR GNRH1 GNRHR
4 reproductive system MP:0005389 9.47 AMH CYP11A1 CYP17A1 EPPIN FSHR GNRH1
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Drugs & Therapeutics for Leydig Cell Hypoplasia

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Search Clinical Trials, NIH Clinical Center for Leydig Cell Hypoplasia

Cochrane evidence based reviews: leydig cell hypoplasia

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Genetic Tests for Leydig Cell Hypoplasia

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Anatomical Context for Leydig Cell Hypoplasia

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Organs/tissues related to Leydig Cell Hypoplasia:

MalaCards : Testes, Breast, Uterus, Testis
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Publications for Leydig Cell Hypoplasia

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Articles related to Leydig Cell Hypoplasia:

(show top 50) (show all 95)
# Title Authors PMID Year
1
Novel homozygous inactivating mutation in the luteinizing hormone receptor gene (LHCGR) associated with 46, XY DSD in a Moroccan family. 62
35670320 2022
2
Androgens and spermatogenesis. 62
35489414 2022
3
A rare cause of primary amenorrhea: LHCGR gene mutations. 62
35366614 2022
4
46 XY undervirulized male DSD: Reporting a patient with prenatally diagnosed disorder/difference of sex development (DSD) with heterozygous LHCGR mutations. 62
34950567 2022
5
Leydig cell hypoplasia type 1 diagnosed in early childhood with inactivating mutation in LHCGR gene. 62
33948188 2021
6
[46,XY DSD induced by a novel mutation c.458T>C (p.Leu153Pro) of the LHCGR gene: A case report and review of the literature]. 62
34898086 2020
7
A novel variant in LCHGR gene in 3 siblings with type 1 Leydig cell hypoplasia. 62
32654531 2020
8
Novel mutations of the LHCGR gene in two families with 46,XY DSD causing Leydig cell hypoplasia I. 62
32666356 2020
9
[Genetic diagnosis for a patient with Leydig cell hypoplasia caused by two novel variants of LHCGR gene]. 62
32761586 2020
10
LEYDIG CELL HYPOPLASIA: A UNIQUE PARADOX IN THE DIAGNOSIS OF 46,XY DISORDERS OF SEX DEVELOPMENT. 62
32524024 2020
11
Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia 62
30444213 2019
12
Diseases caused by mutations in luteinizing hormone/chorionic gonadotropin receptor. 62
30711030 2019
13
Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1. 62
29305568 2018
14
Misfolding Ectodomain Mutations of the Lutropin Receptor Increase Efficacy of Hormone Stimulation. 62
26554443 2016
15
A new variant in signal peptide of the human luteinizing hormone receptor (LHCGR) affects receptor biogenesis causing leydig cell hypoplasia. 62
26246498 2015
16
A novel inactivating mutation of the LH/chorionic gonadotrophin receptor with impaired membrane trafficking leading to Leydig cell hypoplasia type 1. 62
25795638 2015
17
Quality of Life and Psychological Adjustment of Women Living with 46,XY Differences of Sex Development. 62
25893774 2015
18
What lessons can be learned from testicular histology in undescended testes? 62
26816792 2014
19
Etiological diagnosis of undervirilized male/XY disorder of sex development. 62
25327912 2014
20
Successful testicular sperm recovery and IVF treatment in a man with Leydig cell hypoplasia. 62
24792890 2014
21
Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia. 62
25079470 2014
22
The ERK1/2 pathway regulates testosterone synthesis by coordinately regulating the expression of steroidogenic genes in Leydig cells. 62
23480967 2013
23
Aberrant transcription of the LHCGR gene caused by a mutation in exon 6A leads to Leydig cell hypoplasia type II. 62
23232123 2013
24
Gonadotropin resistance. 62
23392092 2013
25
Inactivating mutations of the human luteinizing hormone receptor in both sexes. 62
23044874 2012
26
Functional study of an aberrant splicing variant of the human luteinizing hormone (LH) receptor. 62
22002533 2012
27
The Leydig cell MEK/ERK pathway is critical for maintaining a functional population of adult Leydig cells and for fertility. 62
21527500 2011
28
Rescue of expression and signaling of human luteinizing hormone G protein-coupled receptor mutants with an allosterically binding small-molecule agonist. 62
21482767 2011
29
Leydig cell hypoplasia due to inactivating luteinizing hormone/chorionic gonadotropin receptor gene mutation presenting as a 46,XY DSD. 62
21691974 2011
30
46,XY DSD due to impaired androgen production. 62
20541150 2010
31
A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism. 62
19551906 2009
32
The undescended testis: diagnosis, treatment and long-term consequences. 62
19738919 2009
33
Diseases associated with mutations of the human lutropin receptor. 62
20374734 2009
34
Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism. 62
18433292 2008
35
Biological effect of a novel mutation in the third leucine-rich repeat of human luteinizing hormone receptor. 62
16709601 2006
36
Inactivating mutations of LH and FSH receptors--from genotype to phenotype. 62
17021580 2006
37
[Leydig cell hypoplasia (Leydig cell aplasia)]. 62
16817462 2006
38
Three new 46,XX male patients: a clinical, cytogenetic and molecular analysis. 62
15751609 2005
39
[Leydig cell hypoplasia]. 62
16544038 2005
40
Disorders of sexual development caused by luteinizing hormone receptor mutations. 62
15719037 2005
41
Novel insertion frameshift mutation of the LH receptor gene: problematic clinical distinction of Leydig cell hypoplasia from enzyme defects primarily affecting testosterone biosynthesis. 62
15745934 2005
42
Leydig cell hypoplasia due to inactivation of luteinizing hormone receptor by a novel homozygous nonsense truncation mutation in the seventh transmembrane domain. 62
15607529 2005
43
A novel double mutation in the luteinizing hormone receptor in a kindred with familial Leydig cell hypoplasia and male pseudohermaphroditism. 62
16433250 2005
44
Targeted disruption of luteinizing hormone beta-subunit leads to hypogonadism, defects in gonadal steroidogenesis, and infertility. 62
15569941 2004
45
Detection of rare Leydig cell hypoplasia in somatic cell cloned male piglets. 62
15751539 2004
46
A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in leydig cell hypoplasia. 62
15372531 2004
47
Leydig cell hypoplasia: absent luteinizing hormone receptor cell surface expression caused by a novel homozygous mutation in the extracellular domain. 62
15472221 2004
48
[Leydig cell hypoplasia(agenesis)]. 62
14968545 2004
49
LH receptor defects. 62
12428200 2002
50
Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency. 62
12050206 2002
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Variations for Leydig Cell Hypoplasia

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Expression for Leydig Cell Hypoplasia

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Search GEO for disease gene expression data for Leydig Cell Hypoplasia.
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Pathways for Leydig Cell Hypoplasia

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Pathways related to Leydig Cell Hypoplasia according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Class A/1 (Rhodopsin-like receptors) 66
Show member pathways
 13.12 LHCGR KISS1R INSL3 GNRHR GNRH1 FSHR
2
Metabolism of steroids 66
Show member pathways
 12.41 CYP11A1 CYP17A1 HSD17B3 HSD3B1 SRD5A2 STAR
3
Beta-2 adrenergic-dependent CFTR expression 22
Show member pathways
 12.35 STAR NR5A1 LHCGR GNRHR FSHR CYP11A1
4
G alpha (s) signalling events 66
Show member pathways
 11.9 LHCGR INSL3 FSHR
5
Corticotropin-releasing hormone signaling pathway 74
11.63 STAR HSD3B1 CYP11A1
6
Metabolism of steroid hormones 66
Show member pathways
 11.62 STAR SRD5A2 HSD3B1 HSD17B3 CYP17A1 CYP11A1
7
Androstenedione and testosterone biosynthesis and metabolism p.1 22
Show member pathways
 11.37 HSD3B1 HSD17B3 CYP17A1
8
Mammalian disorder of sexual development 74
Show member pathways
 11.3 NR5A1 INSL3 AMH
9
Ovarian infertility 74
11.14 NR5A1 LHCGR FSHR
10
Metabolic disorders of biological oxidation enzymes 66
11.07 CYP17A1 CYP11A1
11
Kisspeptin/kisspeptin receptor system in the ovary 74
11.01 STAR KISS1R HSD3B1 FSHR CYP11A1 AMH
12
Hormone ligand-binding receptors 66
10.64 LHCGR GNRHR GNRH1 FSHR
13
Classical pathway of steroidogenesis with glucocorticoid and mineralocorticoid metabolism 74
Show member pathways
 10.38 HSD3B1 CYP11A1
14
Alternative pathway of fetal androgen synthesis 74
10.06 STAR SRD5A2 HSD17B3 CYP17A1 CYP11A1
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GO Terms for Leydig Cell Hypoplasia

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Biological processes related to Leydig Cell Hypoplasia according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 10.19 SRD5A2 INSL3 GNRH1 AMH
2 hormone-mediated signaling pathway GO:0009755 10 NR5A1 LHCGR FSHR
3 male gonad development GO:0008584 9.96 FSHR INSL3 LHCGR NR5A1 SRD5A2
4 lipid metabolic process GO:0006629 9.93 SRD5A2 HSD3B1 HSD17B3 DHRS11 CYP17A1 CYP11A1
5 response to organic cyclic compound GO:0014070 9.9 SRD5A2 FSHR AMH
6 ovarian follicle development GO:0001541 9.89 LHCGR FSHR AMH
7 Leydig cell differentiation GO:0033327 9.88 NR5A1 AMH
8 estrogen biosynthetic process GO:0006703 9.87 HSD3B1 DHRS11
9 sex determination GO:0007530 9.86 NR5A1 AMH
10 glucocorticoid biosynthetic process GO:0006704 9.85 CYP11A1 CYP17A1
11 male genitalia development GO:0030539 9.85 SRD5A2 LHCGR HSD17B3
12 female gonad development GO:0008585 9.83 FSHR LHCGR NR5A1
13 testosterone biosynthetic process GO:0061370 9.81 SRD5A2 HSD17B3
14 sex differentiation GO:0007548 9.8 SRD5A2 CYP17A1 AMH
15 gonad development GO:0008406 9.76 FSHR AMH
16 regulation of steroid biosynthetic process GO:0050810 9.72 STAR NR5A1 LHCGR
17 C21-steroid hormone metabolic process GO:0008207 9.71 CYP11A1 HSD3B1
18 ovulation cycle process GO:0022602 9.65 LHCGR FSHR
19 steroid metabolic process GO:0008202 9.63 SRD5A2 HSD3B1 DHRS11 CYP17A1 CYP11A1
20 androgen biosynthetic process GO:0006702 9.56 SRD5A2 HSD3B1 HSD17B3 CYP17A1
21 steroid biosynthetic process GO:0006694 9.44 STAR SRD5A2 HSD3B1 HSD17B3 DHRS11 CYP17A1

Molecular functions related to Leydig Cell Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled peptide receptor activity GO:0008528 9.85 LHCGR KISS1R FSHR
2 testosterone dehydrogenase [NAD(P)] activity GO:0030283 9.71 SRD5A2 HSD17B3
3 3-keto sterol reductase activity GO:0000253 9.62 HSD3B1 DHRS11
4 estradiol 17-beta-dehydrogenase activity GO:0004303 9.61 HSD17B3 DHRS11
5 cycloeucalenone reductase activity GO:0102176 9.56 HSD3B1 DHRS11
6 oxidoreductase activity GO:0016491 9.56 SRD5A2 HSD3B1 HSD17B3 DHRS11 CYP17A1 CYP11A1
7 17-beta-hydroxysteroid dehydrogenase (NADP+) activity GO:0072582 9.46 HSD17B3 DHRS11
8 protein-hormone receptor activity GO:0016500 8.8 LHCGR GNRHR FSHR
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Sources for Leydig Cell Hypoplasia

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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