LHR
MCID: LYD012
MIFTS: 37

Leydig Cell Hypoplasia, Type I (LHR)

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

MalaCards integrated aliases for Leydig Cell Hypoplasia, Type I:

Name: Leydig Cell Hypoplasia, Type I 57
Luteinizing Hormone Resistance, Female 57 28 5 71
Leydig Cell Agenesis 57 73 28 5
Leydig Cell Hypoplasia Type I 11 73 14
46,xy Disorder of Sex Development Due to Complete Luteinizing Hormone Receptor Inactivation 11 58
46,xy Disorder of Sex Development Due to Complete Luteinizing Hormone Resistance 11 58
Leydig Cell Hypoplasia Due to Complete Luteinizing Hormone Receptor Inactivation 11 58
46,xy Disorder of Sex Development Due to Complete Lh Receptor Inactivation 11 58
Leydig Cell Hypoplasia Due to Complete Luteinizing Hormone Resistance 11 58
46,xy Dsd Due to Complete Luteinizing Hormone Receptor Inactivation 11 58
46,xy Disorder of Sex Development Due to Complete Lh Resistance 11 58
Leydig Cell Hypoplasia Due to Complete Lh Receptor Inactivation 11 58
Leydig Cell Hypoplasia with Hypergonadotropic Hypogonadism 57 12
46,xy Dsd Due to Complete Luteinizing Hormone Resistance 11 58
Leydig Cell Hypoplasia with Male Pseudohermaphroditism 57 73
46,xy Dsd Due to Complete Lh Receptor Inactivation 11 58
46,xy Dsd Due to Complete Lh Resistance 11 58
Leydig Cell Hypoplasia 73 71
Hypergonadotropic Hypogonadism, Male, Due to Lhcgr Defect 57
Hypergonadotropic Hypogonadism Male Due to Lhcgr Defect 73
Leydig Cell Hypoplasia Due to Complete Lh Resistance 58
Leydig Cell Hypoplasia with Pseudohermaphroditism 57
Testicular Luteinizing Hormone Resistance 73
Ovarian Luteinizing Hormone Resistance 73
Female Luteinizing Hormone Resistance 73
Leydig Cell Hypoplasia, Complete 57
Leydig Cell Hypoplasia Complete 73
Leydig Cell Hypoplasia, Partial 5
Leydig Cell Hypoplasia Type Ii 73
Luteinizing Hormone Resistance 73
Leydig Cell Hypoplasia Partial 73
Lhr 73

Characteristics:


Inheritance:

Autosomal recessive 57

Age Of Onset:

Leydig Cell Hypoplasia Due to Complete Lh Resistance: Neonatal 58

Classifications:

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


External Ids:

Disease Ontology 11 DOID:0112260
OMIM® 57 238320
MeSH 43 D007006
ICD10 via Orphanet 32 Q56.1
Orphanet 58 ORPHA96265
SNOMED-CT via HPO 69 370999003
UMLS 71 C0860158 C3668935

Summaries for Leydig Cell Hypoplasia, Type I

OMIM®: 57 Leydig cell hypoplasia is an autosomal recessive disorder in which loss of function of the LHCGR gene in the male prevents normal sexual development. Two types of LCH have been defined (Toledo, 1992). Type I, a severe form caused by complete inactivation of LHCGR, is characterized by complete 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics. Type II, a milder form caused by partial inactivation of the gene, displays a broader range of phenotypic expression ranging from micropenis to severe hypospadias. Females with inactivating mutations in the LHCGR gene display a mild phenotype characterized by defective follicular development and ovulation, amenorrhea, and infertility (review by Themmen and Huhtaniemi, 2000). (238320) (Updated 08-Dec-2022)

MalaCards based summary: Leydig Cell Hypoplasia, Type I, also known as luteinizing hormone resistance, female, is related to leydig cell hypoplasia type ii and precocious puberty, male-limited. An important gene associated with Leydig Cell Hypoplasia, Type I is LHCGR (Luteinizing Hormone/Choriogonadotropin Receptor). Affiliated tissues include breast, testes and testis, and related phenotypes are increased circulating gonadotropin level and hypergonadotropic hypogonadism

UniProtKB/Swiss-Prot: 73 An autosomal recessive disorder characterized by unresponsiveness to luteinizing hormone, defective sexual development in males, and defective follicular development and ovulation, amenorrhea and infertility in females. Two forms of the disorder have been defined in males. Type 1 is a severe form characterized by complete 46,XY male pseudohermaphroditism, low testosterone and high luteinizing hormone levels, total lack of responsiveness to luteinizing and chorionic gonadotropin hormones, lack of breast development, and absent development of secondary male sex characteristics. Type 2, a milder form, displays a broader range of phenotypic expression ranging from micropenis to severe hypospadias.

Disease Ontology: 11 A Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics that has material basis in homozygous or compound heterozygous complete inactivation mutation in LHCGR on chromosome 2p16.3.

Related Diseases for Leydig Cell Hypoplasia, Type I

Diseases in the Leydig Cell Hypoplasia family:

Leydig Cell Hypoplasia, Type I Leydig Cell Hypoplasia Type Ii

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 leydig cell hypoplasia type ii 32.3 STON1-GTF2A1L LHCGR
2 precocious puberty, male-limited 29.4 STON1-GTF2A1L LHCGR
3 pseudohermaphroditism 29.2 STON1-GTF2A1L LHCGR
4 leydig cell hypoplasia 11.6
5 hypogonadotropic hypogonadism 23 with or without anosmia 11.6
6 pseudovaginal perineoscrotal hypospadias 10.4
7 penis agenesis 10.4
8 46, xy disorders of sexual development 10.3
9 hypogonadism 10.3
10 down syndrome 10.2
11 syndrome with 46,xy disorder of sex development 10.2
12 enterocele 10.2
13 alzheimer disease, familial, 1 10.2
14 diaphragmatic hernia, congenital 10.2
15 premature menopause 10.1
16 disorder of sexual development 10.1
17 polycystic ovary syndrome 1 10.1
18 toe syndactyly, telecanthus, and anogenital and renal malformations 10.1
19 polycystic ovary syndrome 10.1
20 precocious puberty 10.1
21 pneumothorax, primary spontaneous 10.0
22 pneumothorax 10.0
23 polyhydramnios 10.0
24 amenorrhea 10.0
25 cryptorchidism, unilateral or bilateral 10.0
26 helix syndrome 10.0
27 inguinal hernia 10.0
28 ovarian disease 10.0
29 arteries, anomalies of 9.9
30 autoimmune disease 9.9
31 breast cancer 9.9
32 ovarian cancer 9.9
33 prostate cancer 9.9
34 hypothyroidism, congenital, nongoitrous, 1 9.9
35 ataxia with vitamin e deficiency 9.9
36 chudley-mccullough syndrome 9.9
37 ovarian cancer 1 9.9
38 hyperlipoproteinemia, type iii 9.9
39 lipoprotein quantitative trait locus 9.9
40 primary progressive multiple sclerosis 9.9
41 tongue squamous cell carcinoma 9.9
42 squamous cell carcinoma 9.9
43 leydig cell tumor 9.9
44 endometriosis 9.9
45 testicular cancer 9.9
46 infertility 9.9
47 acne 9.9
48 adenoma 9.9
49 48,xyyy 9.9
50 ovarian epithelial cancer 9.9

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



Diseases related to Leydig Cell Hypoplasia, Type I

Symptoms & Phenotypes for Leydig Cell Hypoplasia, Type I

Human phenotypes related to Leydig Cell Hypoplasia, Type I:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased circulating gonadotropin level 30 HP:0000837
2 hypergonadotropic hypogonadism 30 HP:0000815

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
G U:
hypergonadotropic hypogonadism

Lab:
elevated gonadotropins

Clinical features from OMIM®:

238320 (Updated 08-Dec-2022)

Drugs & Therapeutics for Leydig Cell Hypoplasia, Type I

Search Clinical Trials, NIH Clinical Center for Leydig Cell Hypoplasia, Type I

Genetic Tests for Leydig Cell Hypoplasia, Type I

Genetic tests related to Leydig Cell Hypoplasia, Type I:

# Genetic test Affiliating Genes
1 Leydig Cell Agenesis 28 LHCGR
2 Luteinizing Hormone Resistance, Female 28

Anatomical Context for Leydig Cell Hypoplasia, Type I

Organs/tissues related to Leydig Cell Hypoplasia, Type I:

MalaCards : Breast, Testes, Testis, Pituitary

Publications for Leydig Cell Hypoplasia, Type I

Articles related to Leydig Cell Hypoplasia, Type I:

(show top 50) (show all 106)
# Title Authors PMID Year
1
Inactivation of the luteinizing hormone/chorionic gonadotropin receptor by an insertional mutation in Leydig cell hypoplasia. 62 57 5
9817592 1998
2
An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female. 62 57 5
8923827 1996
3
A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia. 62 57 5
7581384 1995
4
Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. 62 57 5
7719343 1995
5
Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene. 57 5
8559204 1996
6
Inactivating mutations of the human luteinizing hormone receptor in both sexes. 62 57
23044874 2012
7
A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in leydig cell hypoplasia. 62 5
15372531 2004
8
Leydig cell hypoplasia: absent luteinizing hormone receptor cell surface expression caused by a novel homozygous mutation in the extracellular domain. 62 5
15472221 2004
9
Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency. 62 5
12050206 2002
10
Male hypogonadism caused by homozygous deletion of exon 10 of the luteinizing hormone (LH) receptor: differential action of human chorionic gonadotropin and LH. 62 5
10852464 2000
11
Male pseudohermaphroditism due to inactivating luteinizing hormone receptor mutations. 62 57
10714363 1999
12
Evidence for genetic heterogeneity in male pseudohermaphroditism due to Leydig cell hypoplasia. 62 57
10523033 1999
13
A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype. 62 5
9626653 1998
14
Leydig cell hypoplasia leading to two different phenotypes: male pseudohermaphroditism and primary hypogonadism not associated with this. 62 57
1617805 1992
15
A clinico-genetic investigation of Leydig cell hypoplasia. 62 57
3812586 1987
16
Familial Leydig cell hypoplasia as a cause of male pseudohermaphroditism. 62 57
3557461 1987
17
Leydig cell hypoplasia: a cause of male pseudohermaphroditism. 62 57
221512 1978
18
Leydig-cell agenesis: a cause of male pseudohermaphroditism. 62 57
184390 1976
19
Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome. 57
21683950 2011
20
Inactivating mutations of luteinizing hormone beta-subunit or luteinizing hormone receptor cause oligo-amenorrhea and infertility in women. 57
19129711 2009
21
Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal function. 57
11041448 2000
22
A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters. 5
9626144 1998
23
A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor. 5
9514160 1998
24
Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor. 5
9215288 1997
25
Inherited male pseudohermaphroditism due to gonadotrophin unresponsiveness. 57
6792847 1981
26
Male pseudohermaphroditism secondary to an abnormality in Leydig cell differentiation. 57
6263934 1981
27
Possible linkage between the Marinesco-Sj√łgren syndrome and hypergonadotropic hypogonadism. 57
975888 1976
28
Androgen metabolism and mechanism of action in male pseudohermaphroditism: a study of testicular feminization. 57
4356278 1973
29
Novel homozygous inactivating mutation in the luteinizing hormone receptor gene (LHCGR) associated with 46, XY DSD in a Moroccan family. 62
35670320 2022
30
Androgens and spermatogenesis. 62
35489414 2022
31
A rare cause of primary amenorrhea: LHCGR gene mutations. 62
35366614 2022
32
46 XY undervirulized male DSD: Reporting a patient with prenatally diagnosed disorder/difference of sex development (DSD) with heterozygous LHCGR mutations. 62
34950567 2022
33
Leydig cell hypoplasia type 1 diagnosed in early childhood with inactivating mutation in LHCGR gene. 62
33948188 2021
34
A novel variant in LCHGR gene in 3 siblings with type 1 Leydig cell hypoplasia. 62
32654531 2020
35
[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
36
Novel mutations of the LHCGR gene in two families with 46,XY DSD causing Leydig cell hypoplasia I. 62
32666356 2020
37
[Genetic diagnosis for a patient with Leydig cell hypoplasia caused by two novel variants of LHCGR gene]. 62
32761586 2020
38
LEYDIG CELL HYPOPLASIA: A UNIQUE PARADOX IN THE DIAGNOSIS OF 46,XY DISORDERS OF SEX DEVELOPMENT. 62
32524024 2020
39
Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia 62
30444213 2019
40
Diseases caused by mutations in luteinizing hormone/chorionic gonadotropin receptor. 62
30711030 2019
41
Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1. 62
29305568 2018
42
Misfolding Ectodomain Mutations of the Lutropin Receptor Increase Efficacy of Hormone Stimulation. 62
26554443 2016
43
A new variant in signal peptide of the human luteinizing hormone receptor (LHCGR) affects receptor biogenesis causing leydig cell hypoplasia. 62
26246498 2015
44
Quality of Life and Psychological Adjustment of Women Living with 46,XY Differences of Sex Development. 62
25893774 2015
45
A novel inactivating mutation of the LH/chorionic gonadotrophin receptor with impaired membrane trafficking leading to Leydig cell hypoplasia type 1. 62
25795638 2015
46
What lessons can be learned from testicular histology in undescended testes? 62
26816792 2014
47
Etiological diagnosis of undervirilized male/XY disorder of sex development. 62
25327912 2014
48
Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia. 62
25079470 2014
49
Successful testicular sperm recovery and IVF treatment in a man with Leydig cell hypoplasia. 62
24792890 2014
50
The ERK1/2 pathway regulates testosterone synthesis by coordinately regulating the expression of steroidogenic genes in Leydig cells. 62
23480967 2013

Variations for Leydig Cell Hypoplasia, Type I

ClinVar genetic disease variations for Leydig Cell Hypoplasia, Type I:

5 (show top 50) (show all 85)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.1627T>C (p.Cys543Arg) SNV Pathogenic
14387 rs121912537 GRCh37: 2:48915309-48915309
GRCh38: 2:48688170-48688170
2 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.1777G>C (p.Ala593Pro) SNV Pathogenic
Pathogenic
14388 rs121912520 GRCh37: 2:48915159-48915159
GRCh38: 2:48688020-48688020
3 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.1635C>A (p.Cys545Ter) SNV Pathogenic
14391 rs121912523 GRCh37: 2:48915301-48915301
GRCh38: 2:48688162-48688162
4 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.391T>C (p.Cys131Arg) SNV Pathogenic
14396 rs121912527 GRCh37: 2:48950828-48950828
GRCh38: 2:48723689-48723689
5 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.1060G>A (p.Glu354Lys) SNV Pathogenic
Pathogenic
14398 rs121912529 GRCh37: 2:48915876-48915876
GRCh38: 2:48688737-48688737
6 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.1874T>A (p.Ile625Lys) SNV Pathogenic
14400 rs121912530 GRCh37: 2:48915062-48915062
GRCh38: 2:48687923-48687923
7 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.1027T>A (p.Cys343Ser) SNV Pathogenic
14409 rs121912536 GRCh37: 2:48915909-48915909
GRCh38: 2:48688770-48688770
8 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.1505T>C (p.Leu502Pro) SNV Pathogenic
14410 rs121912538 GRCh37: 2:48915431-48915431
GRCh38: 2:48688292-48688292
9 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.430G>T (p.Val144Phe) SNV Pathogenic
14411 rs121912539 GRCh37: 2:48950789-48950789
GRCh38: 2:48723650-48723650
10 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.1869T>G (p.Tyr623Ter) SNV Pathogenic
492759 rs144859947 GRCh37: 2:48915067-48915067
GRCh38: 2:48687928-48687928
11 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.1733A>G (p.Asp578Gly) SNV Pathogenic
14384 rs121912518 GRCh37: 2:48915203-48915203
GRCh38: 2:48688064-48688064
12 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.442G>T (p.Glu148Ter) SNV Pathogenic
626211 rs140568136 GRCh37: 2:48950777-48950777
GRCh38: 2:48723638-48723638
13 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.537-1G>T SNV Pathogenic
996742 rs1668121333 GRCh37: 2:48941194-48941194
GRCh38: 2:48714055-48714055
14 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.370C>T (p.Arg124Ter) SNV Pathogenic
492757 rs773279269 GRCh37: 2:48952828-48952828
GRCh38: 2:48725689-48725689
15 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.1660C>T (p.Arg554Ter) SNV Pathogenic
Pathogenic
14392 rs121912524 GRCh37: 2:48915276-48915276
GRCh38: 2:48688137-48688137
16 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.866+1515_948-2168del DEL Pathogenic
14404 GRCh37: 2:48918156-48924239
GRCh38: 2:48691017-48697100
17 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.55_56insTGCTGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuLeuLysLeuLeuLeuLeuLeuGlnLeuGln) MICROSAT Pathogenic
14405 GRCh37: 2:48982755-48982756
GRCh38: 2:48755616-48755617
18 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.1824_1829del (p.Val609_Leu610del) DEL Pathogenic
Pathogenic
14399 GRCh37: 2:48915107-48915112
GRCh38: 2:48687968-48687973
19 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.536+3G>C SNV Likely Pathogenic
1120144 GRCh37: 2:48950592-48950592
GRCh38: 2:48723453-48723453
20 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.947+4_947+7del DEL Likely Pathogenic
827819 rs1572817589 GRCh37: 2:48921356-48921359
GRCh38: 2:48694217-48694220
21 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.233+1G>A SNV Likely Pathogenic
827820 rs1572874955 GRCh37: 2:48958365-48958365
GRCh38: 2:48731226-48731226
22 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.709del (p.Leu237fs) DEL Likely Pathogenic
545665 rs1553387851 GRCh37: 2:48925911-48925911
GRCh38: 2:48698772-48698772
23 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.*273T>C SNV Uncertain Significance
336453 rs886056146 GRCh37: 2:48914563-48914563
GRCh38: 2:48687424-48687424
24 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.*577T>A SNV Uncertain Significance
336446 rs542577446 GRCh37: 2:48914259-48914259
GRCh38: 2:48687120-48687120
25 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.*7C>T SNV Uncertain Significance
336457 rs200256443 GRCh37: 2:48914829-48914829
GRCh38: 2:48687690-48687690
26 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.54G>A (p.Gln18=) SNV Uncertain Significance
336472 rs780848944 GRCh37: 2:48982757-48982757
GRCh38: 2:48755618-48755618
27 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.*553A>T SNV Uncertain Significance
895518 rs753509070 GRCh37: 2:48914283-48914283
GRCh38: 2:48687144-48687144
28 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.2091A>T (p.Thr697=) SNV Uncertain Significance
435750 rs148244033 GRCh37: 2:48914845-48914845
GRCh38: 2:48687706-48687706
29 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.161+9A>G SNV Uncertain Significance
895727 rs573699597 GRCh37: 2:48982641-48982641
GRCh38: 2:48755502-48755502
30 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.337T>A (p.Tyr113Asn) SNV Uncertain Significance
336469 rs140691492 GRCh37: 2:48952861-48952861
GRCh38: 2:48725722-48725722
31 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.*300T>A SNV Uncertain Significance
336451 rs771456886 GRCh37: 2:48914536-48914536
GRCh38: 2:48687397-48687397
32 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.*724T>C SNV Uncertain Significance
336445 rs886056145 GRCh37: 2:48914112-48914112
GRCh38: 2:48686973-48686973
33 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.2002A>C (p.Thr668Pro) SNV Uncertain Significance
336458 rs199807908 GRCh37: 2:48914934-48914934
GRCh38: 2:48687795-48687795
34 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.384-15T>C SNV Uncertain Significance
336467 rs753540458 GRCh37: 2:48950850-48950850
GRCh38: 2:48723711-48723711
35 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.*383C>A SNV Uncertain Significance
336449 rs777978092 GRCh37: 2:48914453-48914453
GRCh38: 2:48687314-48687314
36 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.811G>A (p.Ala271Thr) SNV Uncertain Significance
336463 rs886056147 GRCh37: 2:48925809-48925809
GRCh38: 2:48698670-48698670
37 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.2095T>A (p.Cys699Ser) SNV Uncertain Significance
895595 rs778585416 GRCh37: 2:48914841-48914841
GRCh38: 2:48687702-48687702
38 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.371G>A (p.Arg124Gln) SNV Uncertain Significance
895725 rs140788691 GRCh37: 2:48952827-48952827
GRCh38: 2:48725688-48725688
39 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.348C>T (p.Pro116=) SNV Uncertain Significance
895726 rs746963214 GRCh37: 2:48952850-48952850
GRCh38: 2:48725711-48725711
40 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.132C>T (p.Cys44=) SNV Uncertain Significance
896008 rs1209400793 GRCh37: 2:48982679-48982679
GRCh38: 2:48755540-48755540
41 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.-32C>G SNV Uncertain Significance
896009 rs1670183266 GRCh37: 2:48982842-48982842
GRCh38: 2:48755703-48755703
42 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.*512C>T SNV Uncertain Significance
896920 rs564632841 GRCh37: 2:48914324-48914324
GRCh38: 2:48687185-48687185
43 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.*443C>T SNV Uncertain Significance
896921 rs886110093 GRCh37: 2:48914393-48914393
GRCh38: 2:48687254-48687254
44 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.*414T>C SNV Uncertain Significance
896922 rs1679939498 GRCh37: 2:48914422-48914422
GRCh38: 2:48687283-48687283
45 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.2072T>C (p.Leu691Pro) SNV Uncertain Significance
897003 rs1387925619 GRCh37: 2:48914864-48914864
GRCh38: 2:48687725-48687725
46 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.707C>T (p.Ala236Val) SNV Uncertain Significance
897074 rs140148170 GRCh37: 2:48925913-48925913
GRCh38: 2:48698774-48698774
47 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.681-6G>A SNV Uncertain Significance
897075 rs575168674 GRCh37: 2:48925945-48925945
GRCh38: 2:48698806-48698806
48 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.672G>A (p.Pro224=) SNV Uncertain Significance
74646 rs267599401 GRCh37: 2:48936095-48936095
GRCh38: 2:48708956-48708956
49 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.*894G>T SNV Uncertain Significance
897354 rs1572798605 GRCh37: 2:48913942-48913942
GRCh38: 2:48686803-48686803
50 STON1-GTF2A1L, LHCGR NM_000233.4(LHCGR):c.1752T>C (p.Pro584=) SNV Uncertain Significance
897484 rs377665383 GRCh37: 2:48915184-48915184
GRCh38: 2:48688045-48688045

UniProtKB/Swiss-Prot genetic disease variations for Leydig Cell Hypoplasia, Type I:

73
# Symbol AA change Variation ID SNP ID
1 LHCGR p.Glu354Lys VAR_003552 rs121912529
2 LHCGR p.Ala593Pro VAR_003560 rs121912520
3 LHCGR p.Ser616Tyr VAR_003562 rs121912525
4 LHCGR p.Ile625Lys VAR_003563 rs121912530
5 LHCGR p.Cys131Arg VAR_010154 rs121912527
6 LHCGR p.Cys343Ser VAR_010155 rs121912536
7 LHCGR p.Cys543Arg VAR_010158 rs121912537
8 LHCGR p.Val144Phe VAR_062336 rs121912539
9 LHCGR p.Ile152Thr VAR_062337
10 LHCGR p.Leu502Pro VAR_062339 rs121912538

Expression for Leydig Cell Hypoplasia, Type I

Search GEO for disease gene expression data for Leydig Cell Hypoplasia, Type I.

Pathways for Leydig Cell Hypoplasia, Type I

GO Terms for Leydig Cell Hypoplasia, Type I

Sources for Leydig Cell Hypoplasia, Type I

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
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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
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