Leydig Cell Hypoplasia, Type I disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Reproductive diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of genital organs

Indeterminate sex and pseudohermaphroditism

Male pseudohermaphroditism, not elsewhere classified

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

MedGen ⁴⁰ C0266432 C2673495 C2673497 more

SNOMED-CT via HPO ⁶⁹ 370999003

UMLS ⁷¹ C0860158 C3668935

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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.

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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:

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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)

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Drugs & Therapeutics for Leydig Cell Hypoplasia, Type I

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

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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

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Anatomical Context for Leydig Cell Hypoplasia, Type I

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

MalaCards : Breast, Testes, Testis, Pituitary

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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	Wu SM...Chan WY	9817592	1998
2	An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female. ⁶² ⁵⁷ ⁵	Toledo SP...Kremer H Themmen AP	8923827	1996
3	A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia. ⁶² ⁵⁷ ⁵	Laue L...Grant DB	7581384	1995
4	Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. ⁶² ⁵⁷ ⁵	Kremer H...Mariman E	7719343	1995
5	Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene. ⁵⁷ ⁵	Latronico AC...Chrousos GP	8559204	1996
6	Inactivating mutations of the human luteinizing hormone receptor in both sexes. ⁶² ⁵⁷	Latronico AC...Arnhold IJ	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	Leung MY...Chan WY	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	Richter-Unruh A...Themmen AP	15472221	2004
9	Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency. ⁶² ⁵	Martens JW...Sultan Ch	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	Gromoll J...Simoni M	10852464	2000
11	Male pseudohermaphroditism due to inactivating luteinizing hormone receptor mutations. ⁶² ⁵⁷	Wu SM...Chan WY	10714363	1999
12	Evidence for genetic heterogeneity in male pseudohermaphroditism due to Leydig cell hypoplasia. ⁶² ⁵⁷	Zenteno JC...Mendez JP	10523033	1999
13	A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype. ⁶² ⁵	Martens JW...Themmen AP	9626653	1998
14	Leydig cell hypoplasia leading to two different phenotypes: male pseudohermaphroditism and primary hypogonadism not associated with this. ⁶² ⁵⁷	Toledo SP	1617805	1992
15	A clinico-genetic investigation of Leydig cell hypoplasia. ⁶² ⁵⁷	Saldanha PH...Toledo SP	3812586	1987
16	Familial Leydig cell hypoplasia as a cause of male pseudohermaphroditism. ⁶² ⁵⁷	el-Awady MK...Gad YZ	3557461	1987
17	Leydig cell hypoplasia: a cause of male pseudohermaphroditism. ⁶² ⁵⁷	Brown DM...Dehner LP	221512	1978
18	Leydig-cell agenesis: a cause of male pseudohermaphroditism. ⁶² ⁵⁷	Berthezene F...Mornex R	184390	1976
19	Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome. ⁵⁷	Yariz KO...Tekin M	21683950	2011
20	Inactivating mutations of luteinizing hormone beta-subunit or luteinizing hormone receptor cause oligo-amenorrhea and infertility in women. ⁵⁷	Arnhold IJ...Latronico AC	19129711	2009
21	Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal function. ⁵⁷	Themmen APN...Huhtaniemi IT	11041448	2000
22	A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters. ⁵	Stavrou SS...Imperato-McGinley J	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	Latronico AC...Segaloff DL	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	Misrahi M...Bougneres P	9215288	1997
25	Inherited male pseudohermaphroditism due to gonadotrophin unresponsiveness. ⁵⁷	Perez-Palacios G...Perez AE	6792847	1981
26	Male pseudohermaphroditism secondary to an abnormality in Leydig cell differentiation. ⁵⁷	Schwartz M...Hensle T	6263934	1981
27	Possible linkage between the Marinesco-Sjøgren syndrome and hypergonadotropic hypogonadism. ⁵⁷	Berg K...Skre H	975888	1976
28	Androgen metabolism and mechanism of action in male pseudohermaphroditism: a study of testicular feminization. ⁵⁷	Bardin CW...Blackburn WR	4356278	1973
29	Novel homozygous inactivating mutation in the luteinizing hormone receptor gene (LHCGR) associated with 46, XY DSD in a Moroccan family. ⁶²	Alla A...Latrech H	35670320	2022
30	Androgens and spermatogenesis. ⁶²	Christin-Maitre S...Young J	35489414	2022
31	A rare cause of primary amenorrhea: LHCGR gene mutations. ⁶²	Aktar Karakaya A...Kenan Haspolat Y	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	Fendereski K...Schaeffer A	34950567	2022
33	Leydig cell hypoplasia type 1 diagnosed in early childhood with inactivating mutation in LHCGR gene. ⁶²	Comlek FO...Tutunculer F	33948188	2021
34	A novel variant in LCHGR gene in 3 siblings with type 1 Leydig cell hypoplasia. ⁶²	Aktar Karakaya A...Haspolat YK	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	Xu ZY...Li XJ	34898086	2020
36	Novel mutations of the LHCGR gene in two families with 46,XY DSD causing Leydig cell hypoplasia I. ⁶²	Hassan HA...Mazen I	32666356	2020
37	[Genetic diagnosis for a patient with Leydig cell hypoplasia caused by two novel variants of LHCGR gene]. ⁶²	Xia J...Kong X	32761586	2020
38	LEYDIG CELL HYPOPLASIA: A UNIQUE PARADOX IN THE DIAGNOSIS OF 46,XY DISORDERS OF SEX DEVELOPMENT. ⁶²	Jahan S...Tofail T	32524024	2020
39	Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia ⁶²	Yan M...Mireguli M	30444213	2019
40	Diseases caused by mutations in luteinizing hormone/chorionic gonadotropin receptor. ⁶²	Qiao J...Han B	30711030	2019
41	Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1. ⁶²	Xu Y...Wang J	29305568	2018
42	Misfolding Ectodomain Mutations of the Lutropin Receptor Increase Efficacy of Hormone Stimulation. ⁶²	Charmandari E...Segaloff DL	26554443	2016
43	A new variant in signal peptide of the human luteinizing hormone receptor (LHCGR) affects receptor biogenesis causing leydig cell hypoplasia. ⁶²	Vezzoli V...Bonomi M	26246498	2015
44	Quality of Life and Psychological Adjustment of Women Living with 46,XY Differences of Sex Development. ⁶²	D'Alberton F...Mazzanti L	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	Rivero-Muller A...Beckers A	25795638	2015
46	What lessons can be learned from testicular histology in undescended testes? ⁶²	Mechlin CW...Kogan BA	26816792	2014
47	Etiological diagnosis of undervirilized male/XY disorder of sex development. ⁶²	Atta I...Raza J	25327912	2014
48	Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia. ⁶²	Athanasoulia AP...Auer MK	25079470	2014
49	Successful testicular sperm recovery and IVF treatment in a man with Leydig cell hypoplasia. ⁶²	Bakircioglu ME...Bahceci M	24792890	2014
50	The ERK1/2 pathway regulates testosterone synthesis by coordinately regulating the expression of steroidogenic genes in Leydig cells. ⁶²	Matzkin ME...Ascoli M	23480967	2013

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Genes for Leydig Cell Hypoplasia, Type I

Genes related to Leydig Cell Hypoplasia, Type I (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	LHCGR	Luteinizing Hormone/Choriogonadotropin Receptor	Protein Coding	1681.6	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	7581384 7719343 8559204 (more) 8923827 9215288 9514160 9626144 9626653 9817592 10852464 12050206 15372531 15472221
2	STON1-GTF2A1L	STON1-GTF2A1L Readthrough	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	7581384 7719343 8559204 (more) 8923827 9215288 9514160 9626144 9626653 9817592 10852464 12050206 15372531 15472221

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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

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Expression for Leydig Cell Hypoplasia, Type I

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LHR MCID: LYD012 MIFTS: 37	Leydig Cell Hypoplasia, Type I (LHR) Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Leydig Cell Hypoplasia, Type I (LHR)

Aliases & Classifications for Leydig Cell Hypoplasia, Type I

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