LHR
MCID: LYD012
MIFTS: 37

Leydig Cell Hypoplasia, Type I (LHR)

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

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 29 6 70
Leydig Cell Hypoplasia 58 72 70
46,xy Disorder of Sex Development Due to Complete Luteinizing Hormone Receptor Inactivation 12 58
46,xy Disorder of Sex Development Due to Complete Luteinizing Hormone Resistance 12 58
Leydig Cell Hypoplasia Due to Complete Luteinizing Hormone Receptor Inactivation 12 58
46,xy Disorder of Sex Development Due to Complete Lh Receptor Inactivation 12 58
Leydig Cell Hypoplasia Due to Complete Luteinizing Hormone Resistance 12 58
46,xy Dsd Due to Complete Luteinizing Hormone Receptor Inactivation 12 58
46,xy Disorder of Sex Development Due to Complete Lh Resistance 12 58
Leydig Cell Hypoplasia Due to Complete Lh Receptor Inactivation 12 58
Leydig Cell Hypoplasia with Hypergonadotropic Hypogonadism 57 13
46,xy Dsd Due to Complete Luteinizing Hormone Resistance 12 58
Leydig Cell Hypoplasia with Male Pseudohermaphroditism 57 72
46,xy Dsd Due to Complete Lh Receptor Inactivation 12 58
46,xy Dsd Due to Complete Lh Resistance 12 58
Leydig Cell Hypoplasia, Type 1 29 6
Leydig Cell Hypoplasia Type I 12 72
Leydig Cell Agenesis 57 72
46,xy Disorder of Sex Development Due to Luteinizing Hormone Resistance or Luteinizing Hormone Beta Subunit Deficiency 58
46,xy Dsd Due to Luteinizing Hormone Resistance or Luteinizing Hormone Beta Subunit Deficiency 58
46,xy Disorder of Sex Developement Due to Partial Luteinizing Hormone Resistance 58
Leydig Cell Hypoplasia Due to Partial Luteinizing Hormone Receptor Inactivation 58
46,xy Disorder of Sex Developement Due to Partial Lh Receptor Inactivation 58
46,xy Disorder of Sex Development Due to Lh Resistance or Lhb Deficiency 58
Leydig Cell Hypoplasia Due to Partial Luteinizing Hormone Resistance 58
46,xy Disorder of Sex Developement Due to Partial Lh Resistance 58
Leydig Cell Hypoplasia Due to Partial Lh Receptor Inactivation 58
Hypergonadotropic Hypogonadism, Male, Due to Lhcgr Defect 57
46,xy Dsd Due to Partial Luteinizing Hormone Resistance 58
Hypergonadotropic Hypogonadism Male Due to Lhcgr Defect 72
Leydig Cell Hypoplasia Due to Complete Lh Resistance 58
Leydig Cell Hypoplasia Due to Partial Lh Resistance 58
Leydig Cell Hypoplasia with Pseudohermaphroditism 57
46,xy Dsd Due to Partial Lh Receptor Inactivation 58
46,xy Dsd Due to Lh Resistance or Lhb Deficiency 58
Testicular Luteinizing Hormone Resistance 72
46,xy Dsd Due to Partial Lh Resistance 58
Ovarian Luteinizing Hormone Resistance 72
Female Luteinizing Hormone Resistance 72
Leydig Cell Hypoplasia, Complete 57
Leydig Cell Hypoplasia Complete 72
Leydig Cell Hypoplasia, Partial 6
Leydig Cell Hypoplasia Type Ii 72
Luteinizing Hormone Resistance 72
Leydig Cell Hypoplasia Partial 72
Lhr 72

Characteristics:

OMIM®:

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


HPO:

31
leydig cell hypoplasia, type i:
Inheritance autosomal recessive inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0112260
OMIM® 57 238320
MeSH 44 D007006
ICD10 via Orphanet 33 Q56.1
UMLS via Orphanet 71 C0860158
SNOMED-CT via HPO 68 258211005 370999003
UMLS 70 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 05-Apr-2021)

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

Disease Ontology : 12 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.

UniProtKB/Swiss-Prot : 72 Luteinizing hormone resistance: 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.

Related Diseases for Leydig Cell Hypoplasia, Type I

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:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased circulating gonadotropin level 58 31 Very frequent (99-80%) HP:0000837
2 hypergonadotropic hypogonadism 58 31 Very frequent (99-80%) HP:0000815
3 delayed skeletal maturation 58 Very frequent (99-80%)
4 cryptorchidism 58 Very frequent (99-80%)
5 primary amenorrhea 58 Very frequent (99-80%)
6 secondary amenorrhea 58 Occasional (29-5%)
7 micropenis 58 Very frequent (99-80%)
8 hypospadias 58 Very frequent (99-80%)
9 male pseudohermaphroditism 58 Very frequent (99-80%)
10 ambiguous genitalia 58 Very frequent (99-80%)
11 breast aplasia 58 Very frequent (99-80%)
12 aplasia of the uterus 58 Very frequent (99-80%)
13 male hypogonadism 58 Very frequent (99-80%)
14 primary gonadal insufficiency 58 Very frequent (99-80%)
15 abnormal external genitalia 58 Very frequent (99-80%)
16 abnormal internal genitalia 58 Very frequent (99-80%)
17 testicular gonadoblastoma 58 Occasional (29-5%)
18 absence of secondary sex characteristics 58 Very frequent (99-80%)
19 decreased serum testosterone level 58 Very frequent (99-80%)
20 phenotypic abnormality 58 Very frequent (99-80%)
21 female hypogonadism 58 Very frequent (99-80%)
22 hyoplasia of the leydig cells 58 Very frequent (99-80%)
23 abnormal vas deferens morphology 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
G U:
hypergonadotropic hypogonadism

Lab:
elevated gonadotropins

Clinical features from OMIM®:

238320 (Updated 05-Apr-2021)

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 Hypoplasia, Type 1 29 LHCGR
2 Luteinizing Hormone Resistance, Female 29

Anatomical Context for Leydig Cell Hypoplasia, Type I

MalaCards organs/tissues related to Leydig Cell Hypoplasia, Type I:

40
Breast, Uterus, Pituitary

Publications for Leydig Cell Hypoplasia, Type I

Articles related to Leydig Cell Hypoplasia, Type I:

(show all 29)
# Title Authors PMID Year
1
Inactivation of the luteinizing hormone/chorionic gonadotropin receptor by an insertional mutation in Leydig cell hypoplasia. 6 57
9817592 1998
2
An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female. 6 57
8923827 1996
3
Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene. 6 57
8559204 1996
4
A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia. 6 57
7581384 1995
5
Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. 6 57
7719343 1995
6
Inactivating mutations of the human luteinizing hormone receptor in both sexes. 57
23044874 2012
7
Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome. 57
21683950 2011
8
Inactivating mutations of luteinizing hormone beta-subunit or luteinizing hormone receptor cause oligo-amenorrhea and infertility in women. 57
19129711 2009
9
Leydig cell hypoplasia: absent luteinizing hormone receptor cell surface expression caused by a novel homozygous mutation in the extracellular domain. 6
15472221 2004
10
A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in leydig cell hypoplasia. 6
15372531 2004
11
Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency. 6
12050206 2002
12
Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal function. 57
11041448 2000
13
Male hypogonadism caused by homozygous deletion of exon 10 of the luteinizing hormone (LH) receptor: differential action of human chorionic gonadotropin and LH. 6
10852464 2000
14
Male pseudohermaphroditism due to inactivating luteinizing hormone receptor mutations. 57
10714363 1999
15
Evidence for genetic heterogeneity in male pseudohermaphroditism due to Leydig cell hypoplasia. 57
10523033 1999
16
A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype. 6
9626653 1998
17
A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters. 6
9626144 1998
18
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. 6
9514160 1998
19
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. 6
9215288 1997
20
Leydig cell hypoplasia leading to two different phenotypes: male pseudohermaphroditism and primary hypogonadism not associated with this. 57
1617805 1992
21
A clinico-genetic investigation of Leydig cell hypoplasia. 57
3812586 1987
22
Familial Leydig cell hypoplasia as a cause of male pseudohermaphroditism. 57
3557461 1987
23
Inherited male pseudohermaphroditism due to gonadotrophin unresponsiveness. 57
6792847 1981
24
Male pseudohermaphroditism secondary to an abnormality in Leydig cell differentiation. 57
6263934 1981
25
Leydig cell hypoplasia: a cause of male pseudohermaphroditism. 57
221512 1978
26
Leydig-cell agenesis: a cause of male pseudohermaphroditism. 57
184390 1976
27
Possible linkage between the Marinesco-Sjøgren 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 mutations of the LHCGR gene in two families with 46,XY DSD causing Leydig cell hypoplasia I. 61
32666356 2020

Variations for Leydig Cell Hypoplasia, Type I

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

6 (show top 50) (show all 87)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LHCGR LHCGR, EX10DEL Deletion Pathogenic 14404 GRCh37:
GRCh38:
2 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.391T>C (p.Cys131Arg) SNV Pathogenic 14396 rs121912527 GRCh37: 2:48950828-48950828
GRCh38: 2:48723689-48723689
3 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.1874T>A (p.Ile625Lys) SNV Pathogenic 14400 rs121912530 GRCh37: 2:48915062-48915062
GRCh38: 2:48687923-48687923
4 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.1627T>C (p.Cys543Arg) SNV Pathogenic 14387 rs121912537 GRCh37: 2:48915309-48915309
GRCh38: 2:48688170-48688170
5 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.1777G>C (p.Ala593Pro) SNV Pathogenic 14388 rs121912520 GRCh37: 2:48915159-48915159
GRCh38: 2:48688020-48688020
6 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.1777G>C (p.Ala593Pro) SNV Pathogenic 14388 rs121912520 GRCh37: 2:48915159-48915159
GRCh38: 2:48688020-48688020
7 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.1660C>T (p.Arg554Ter) SNV Pathogenic 14392 rs121912524 GRCh37: 2:48915276-48915276
GRCh38: 2:48688137-48688137
8 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.1660C>T (p.Arg554Ter) SNV Pathogenic 14392 rs121912524 GRCh37: 2:48915276-48915276
GRCh38: 2:48688137-48688137
9 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.1060G>A (p.Glu354Lys) SNV Pathogenic 14398 rs121912529 GRCh37: 2:48915876-48915876
GRCh38: 2:48688737-48688737
10 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.1060G>A (p.Glu354Lys) SNV Pathogenic 14398 rs121912529 GRCh37: 2:48915876-48915876
GRCh38: 2:48688737-48688737
11 LHCGR LHCGR, 6-BP DEL, NT1822 Deletion Pathogenic 14399 GRCh37:
GRCh38:
12 LHCGR LHCGR, 6-BP DEL, NT1822 Deletion Pathogenic 14399 GRCh37:
GRCh38:
13 LHCGR LHCGR, 33-BP INS, NT54 Insertion Pathogenic 14405 GRCh37:
GRCh38:
14 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.1027T>A (p.Cys343Ser) SNV Pathogenic 14409 rs121912536 GRCh37: 2:48915909-48915909
GRCh38: 2:48688770-48688770
15 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.1505T>C (p.Leu502Pro) SNV Pathogenic 14410 rs121912538 GRCh37: 2:48915431-48915431
GRCh38: 2:48688292-48688292
16 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.430G>T (p.Val144Phe) SNV Pathogenic 14411 rs121912539 GRCh37: 2:48950789-48950789
GRCh38: 2:48723650-48723650
17 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.1869T>G (p.Tyr623Ter) SNV Pathogenic 492759 rs144859947 GRCh37: 2:48915067-48915067
GRCh38: 2:48687928-48687928
18 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.1733A>G (p.Asp578Gly) SNV Pathogenic 14384 rs121912518 GRCh37: 2:48915203-48915203
GRCh38: 2:48688064-48688064
19 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.442G>T (p.Glu148Ter) SNV Pathogenic 626211 rs140568136 GRCh37: 2:48950777-48950777
GRCh38: 2:48723638-48723638
20 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.537-1G>T SNV Pathogenic 996742 GRCh37: 2:48941194-48941194
GRCh38: 2:48714055-48714055
21 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.370C>T (p.Arg124Ter) SNV Pathogenic 492757 rs773279269 GRCh37: 2:48952828-48952828
GRCh38: 2:48725689-48725689
22 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.1635C>A (p.Cys545Ter) SNV Pathogenic 14391 rs121912523 GRCh37: 2:48915301-48915301
GRCh38: 2:48688162-48688162
23 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.947+4_947+7del Deletion Likely pathogenic 827819 rs1572817589 GRCh37: 2:48921356-48921359
GRCh38: 2:48694217-48694220
24 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.233+1G>A SNV Likely pathogenic 827820 rs1572874955 GRCh37: 2:48958365-48958365
GRCh38: 2:48731226-48731226
25 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.709del (p.Leu237fs) Deletion Likely pathogenic 545665 rs1553387851 GRCh37: 2:48925911-48925911
GRCh38: 2:48698772-48698772
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 GRCh37: 2:48914283-48914283
GRCh38: 2:48687144-48687144
28 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.561A>G (p.Glu187=) SNV Uncertain significance 710261 rs369601921 GRCh37: 2:48941169-48941169
GRCh38: 2:48714030-48714030
29 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.*805A>G SNV Uncertain significance 898509 GRCh37: 2:48914031-48914031
GRCh38: 2:48686892-48686892
30 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.*747C>A SNV Uncertain significance 898510 GRCh37: 2:48914089-48914089
GRCh38: 2:48686950-48686950
31 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.*710A>G SNV Uncertain significance 898511 GRCh37: 2:48914126-48914126
GRCh38: 2:48686987-48686987
32 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.*192T>C SNV Uncertain significance 898585 GRCh37: 2:48914644-48914644
GRCh38: 2:48687505-48687505
33 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.*182T>C SNV Uncertain significance 898586 GRCh37: 2:48914654-48914654
GRCh38: 2:48687515-48687515
34 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.1308G>A (p.Gly436=) SNV Uncertain significance 898641 GRCh37: 2:48915628-48915628
GRCh38: 2:48688489-48688489
35 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.2095T>A (p.Cys699Ser) SNV Uncertain significance 895595 GRCh37: 2:48914841-48914841
GRCh38: 2:48687702-48687702
36 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
37 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.371G>A (p.Arg124Gln) SNV Uncertain significance 895725 GRCh37: 2:48952827-48952827
GRCh38: 2:48725688-48725688
38 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.348C>T (p.Pro116=) SNV Uncertain significance 895726 GRCh37: 2:48952850-48952850
GRCh38: 2:48725711-48725711
39 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.161+9A>G SNV Uncertain significance 895727 GRCh37: 2:48982641-48982641
GRCh38: 2:48755502-48755502
40 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.132C>T (p.Cys44=) SNV Uncertain significance 896008 GRCh37: 2:48982679-48982679
GRCh38: 2:48755540-48755540
41 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.-32C>G SNV Uncertain significance 896009 GRCh37: 2:48982842-48982842
GRCh38: 2:48755703-48755703
42 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.*512C>T SNV Uncertain significance 896920 GRCh37: 2:48914324-48914324
GRCh38: 2:48687185-48687185
43 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.*443C>T SNV Uncertain significance 896921 GRCh37: 2:48914393-48914393
GRCh38: 2:48687254-48687254
44 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.*414T>C SNV Uncertain significance 896922 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 GRCh37: 2:48914864-48914864
GRCh38: 2:48687725-48687725
46 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.1953T>C (p.Tyr651=) SNV Uncertain significance 712503 rs61996315 GRCh37: 2:48914983-48914983
GRCh38: 2:48687844-48687844
47 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.707C>T (p.Ala236Val) SNV Uncertain significance 897074 GRCh37: 2:48925913-48925913
GRCh38: 2:48698774-48698774
48 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.681-6G>A SNV Uncertain significance 897075 GRCh37: 2:48925945-48925945
GRCh38: 2:48698806-48698806
49 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.672G>A (p.Pro224=) SNV Uncertain significance 74646 GRCh37: 2:48936095-48936095
GRCh38: 2:48708956-48708956
50 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.*894G>T SNV Uncertain significance 897354 GRCh37: 2:48913942-48913942
GRCh38: 2:48686803-48686803

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

72
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
46 MGI
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50 NCIt
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54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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