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LHR
MCID: LYD012
MIFTS: 32

Leydig Cell Hypoplasia, Type I (LHR)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Leydig Cell Hypoplasia, Type I

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MalaCards integrated aliases for Leydig Cell Hypoplasia, Type I:

Name: Leydig Cell Hypoplasia, Type I 57
Luteinizing Hormone Resistance, Female 57 29 6 73
Leydig Cell Agenesis 57 75 29 6
Leydig Cell Hypoplasia 59 75 73
Leydig Cell Hypoplasia with Hypergonadotropic Hypogonadism 57 13
Leydig Cell Hypoplasia with Male Pseudohermaphroditism 57 75
Leydig Cell Hypoplasia, Partial 29 6
46,xy Disorder of Sex Development Due to Luteinizing Hormone Resistance or Luteinizing Hormone Beta Subunit Deficiency 59
46,xy Dsd Due to Luteinizing Hormone Resistance or Luteinizing Hormone Beta Subunit Deficiency 59
46,xy Disorder of Sex Development Due to Complete Luteinizing Hormone Receptor Inactivation 59
46,xy Disorder of Sex Developement Due to Partial Luteinizing Hormone Resistance 59
46,xy Disorder of Sex Development Due to Complete Luteinizing Hormone Resistance 59
Leydig Cell Hypoplasia Due to Complete Luteinizing Hormone Receptor Inactivation 59
Leydig Cell Hypoplasia Due to Partial Luteinizing Hormone Receptor Inactivation 59
46,xy Disorder of Sex Developement Due to Partial Lh Receptor Inactivation 59
46,xy Disorder of Sex Development Due to Complete Lh Receptor Inactivation 59
46,xy Disorder of Sex Development Due to Lh Resistance or Lhb Deficiency 59
Leydig Cell Hypoplasia Due to Complete Luteinizing Hormone Resistance 59
Leydig Cell Hypoplasia Due to Partial Luteinizing Hormone Resistance 59
46,xy Dsd Due to Complete Luteinizing Hormone Receptor Inactivation 59
46,xy Disorder of Sex Developement Due to Partial Lh Resistance 59
46,xy Disorder of Sex Development Due to Complete Lh Resistance 59
Leydig Cell Hypoplasia Due to Complete Lh Receptor Inactivation 59
Leydig Cell Hypoplasia Due to Partial Lh Receptor Inactivation 59
Hypergonadotropic Hypogonadism, Male, Due to Lhcgr Defect 57
46,xy Dsd Due to Complete Luteinizing Hormone Resistance 59
46,xy Dsd Due to Partial Luteinizing Hormone Resistance 59
Hypergonadotropic Hypogonadism Male Due to Lhcgr Defect 75
Leydig Cell Hypoplasia Due to Complete Lh Resistance 59
Leydig Cell Hypoplasia Due to Partial Lh Resistance 59
46,xy Dsd Due to Complete Lh Receptor Inactivation 59
Leydig Cell Hypoplasia with Pseudohermaphroditism 57
46,xy Dsd Due to Partial Lh Receptor Inactivation 59
46,xy Dsd Due to Lh Resistance or Lhb Deficiency 59
Testicular Luteinizing Hormone Resistance 75
46,xy Dsd Due to Complete Lh Resistance 59
46,xy Dsd Due to Partial Lh Resistance 59
Ovarian Luteinizing Hormone Resistance 75
Female Luteinizing Hormone Resistance 75
Leydig Cell Hypoplasia, Complete 57
Leydig Cell Hypoplasia Complete 75
Luteinizing Hormone Resistance 75
Leydig Cell Hypoplasia Partial 75
Leydig Cell Hypoplasia Type Ii 75
Leydig Cell Hypoplasia Type I 75
Lhr 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
leydig cell hypoplasia, type i:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Reproductive diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare infertility disorders
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 57 238320
UMLS via Orphanet 74 C0860158
ICD10 via Orphanet 34 Q56.1
MeSH 44 D007006
SNOMED-CT via HPO 69 258211005 370999003
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Summaries for Leydig Cell Hypoplasia, Type I

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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)

MalaCards based summary : Leydig Cell Hypoplasia, Type I, also known as luteinizing hormone resistance, female, is related to leydig cell hypoplasia and hypogonadotropic hypogonadism 23 without anosmia. An important gene associated with Leydig Cell Hypoplasia, Type I is LHCGR (Luteinizing Hormone/Choriogonadotropin Receptor). Affiliated tissues include breast, uterus and prostate, and related phenotypes are increased circulating gonadotropin level and hypergonadotropic hypogonadism

UniProtKB/Swiss-Prot : 75 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.

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Related Diseases for Leydig Cell Hypoplasia, Type I

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Diseases in the Leydig Cell Hypoplasia family:

Leydig Cell Hypoplasia, Type I

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 leydig cell hypoplasia 12.0
2 hypogonadotropic hypogonadism 23 without anosmia 11.6
3 alzheimer disease 10.3
4 hypogonadism 10.2
5 diaphragmatic hernia, congenital 10.1
6 breast cancer 10.0
7 prostate cancer 10.0
8 endometriosis 10.0
9 infertility 10.0
10 adenoma 10.0
11 precocious puberty 10.0
12 pseudohermaphroditism 10.0

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



Diseases related to Leydig Cell Hypoplasia, Type I
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Symptoms & Phenotypes for Leydig Cell Hypoplasia, Type I

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Symptoms via clinical synopsis from OMIM:

57
G U:
hypergonadotropic hypogonadism

Lab:
elevated gonadotropins


Clinical features from OMIM:

238320

Human phenotypes related to Leydig Cell Hypoplasia, Type I:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased circulating gonadotropin level 59 32 Very frequent (99-80%) HP:0000837
2 hypergonadotropic hypogonadism 59 32 Very frequent (99-80%) HP:0000815
3 delayed skeletal maturation 59 Very frequent (99-80%)
4 cryptorchidism 59 Very frequent (99-80%)
5 primary amenorrhea 59 Very frequent (99-80%)
6 secondary amenorrhea 59 Occasional (29-5%)
7 male hypogonadism 59 Very frequent (99-80%)
8 hypospadias 59 Very frequent (99-80%)
9 absence of secondary sex characteristics 59 Very frequent (99-80%)
10 decreased serum testosterone level 59 Very frequent (99-80%)
11 male pseudohermaphroditism 59 Very frequent (99-80%)
12 ambiguous genitalia 59 Very frequent (99-80%)
13 micropenis 59 Very frequent (99-80%)
14 aplasia of the uterus 59 Very frequent (99-80%)
15 breast aplasia 59 Very frequent (99-80%)
16 phenotypic abnormality 59 Very frequent (99-80%)
17 female hypogonadism 59 Very frequent (99-80%)
18 abnormal external genitalia 59 Very frequent (99-80%)
19 abnormal internal genitalia 59 Very frequent (99-80%)
20 primary gonadal insufficiency 59 Very frequent (99-80%)
21 hyoplasia of the leydig cells 59 Very frequent (99-80%)
22 testicular gonadoblastoma 59 Occasional (29-5%)
23 abnormal vas deferens morphology 59 Occasional (29-5%)
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Drugs & Therapeutics for Leydig Cell Hypoplasia, Type I

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

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Genetic Tests for Leydig Cell Hypoplasia, Type I

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Genetic tests related to Leydig Cell Hypoplasia, Type I:

# Genetic test Affiliating Genes
1 Leydig Cell Agenesis 29 LHCGR
2 Leydig Cell Hypoplasia, Partial 29
3 Luteinizing Hormone Resistance, Female 29
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Anatomical Context for Leydig Cell Hypoplasia, Type I

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

41
Breast, Uterus, Prostate
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Publications for Leydig Cell Hypoplasia, Type I

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Articles related to Leydig Cell Hypoplasia, Type I:

# Title Authors Year
1
Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal. ( 7774042 )
1995
2
Leydig-cell agenesis: a cause of male pseudohermaphroditism. ( 184390 )
1976
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Variations for Leydig Cell Hypoplasia, Type I

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

75
# 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

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

6 (show top 50) (show all 97)
# Gene Variation Type Significance SNP ID Assembly Location
1 LHCGR NM_000233.3(LHCGR): c.1627T> C (p.Cys543Arg) single nucleotide variant Pathogenic rs121912537 GRCh37 Chromosome 2, 48915309: 48915309
2 LHCGR NM_000233.3(LHCGR): c.1627T> C (p.Cys543Arg) single nucleotide variant Pathogenic rs121912537 GRCh38 Chromosome 2, 48688170: 48688170
3 LHCGR NM_000233.3(LHCGR): c.1777G> C (p.Ala593Pro) single nucleotide variant Pathogenic rs121912520 GRCh37 Chromosome 2, 48915159: 48915159
4 LHCGR NM_000233.3(LHCGR): c.1777G> C (p.Ala593Pro) single nucleotide variant Pathogenic rs121912520 GRCh38 Chromosome 2, 48688020: 48688020
5 LHCGR NM_000233.3(LHCGR): c.1635C> A (p.Cys545Ter) single nucleotide variant Pathogenic rs121912523 GRCh37 Chromosome 2, 48915301: 48915301
6 LHCGR NM_000233.3(LHCGR): c.1635C> A (p.Cys545Ter) single nucleotide variant Pathogenic rs121912523 GRCh38 Chromosome 2, 48688162: 48688162
7 LHCGR NM_000233.3(LHCGR): c.1660C> T (p.Arg554Ter) single nucleotide variant Pathogenic rs121912524 GRCh37 Chromosome 2, 48915276: 48915276
8 LHCGR NM_000233.3(LHCGR): c.1660C> T (p.Arg554Ter) single nucleotide variant Pathogenic rs121912524 GRCh38 Chromosome 2, 48688137: 48688137
9 LHCGR NM_000233.3(LHCGR): c.391T> C (p.Cys131Arg) single nucleotide variant Pathogenic rs121912527 GRCh37 Chromosome 2, 48950828: 48950828
10 LHCGR NM_000233.3(LHCGR): c.391T> C (p.Cys131Arg) single nucleotide variant Pathogenic rs121912527 GRCh38 Chromosome 2, 48723689: 48723689
11 LHCGR NM_000233.3(LHCGR): c.1060G> A (p.Glu354Lys) single nucleotide variant Pathogenic rs121912529 GRCh37 Chromosome 2, 48915876: 48915876
12 LHCGR NM_000233.3(LHCGR): c.1060G> A (p.Glu354Lys) single nucleotide variant Pathogenic rs121912529 GRCh38 Chromosome 2, 48688737: 48688737
13 LHCGR LHCGR, 6-BP DEL, NT1822 deletion Pathogenic
14 LHCGR NM_000233.3(LHCGR): c.1874T> A (p.Ile625Lys) single nucleotide variant Pathogenic rs121912530 GRCh37 Chromosome 2, 48915062: 48915062
15 LHCGR NM_000233.3(LHCGR): c.1874T> A (p.Ile625Lys) single nucleotide variant Pathogenic rs121912530 GRCh38 Chromosome 2, 48687923: 48687923
16 LHCGR LHCGR, EX10DEL deletion Pathogenic
17 LHCGR LHCGR, 33-BP INS, NT54 insertion Pathogenic
18 LHCGR NM_000233.3(LHCGR): c.1027T> A (p.Cys343Ser) single nucleotide variant Pathogenic rs121912536 GRCh37 Chromosome 2, 48915909: 48915909
19 LHCGR NM_000233.3(LHCGR): c.1027T> A (p.Cys343Ser) single nucleotide variant Pathogenic rs121912536 GRCh38 Chromosome 2, 48688770: 48688770
20 LHCGR NM_000233.3(LHCGR): c.1505T> C (p.Leu502Pro) single nucleotide variant Pathogenic rs121912538 GRCh37 Chromosome 2, 48915431: 48915431
21 LHCGR NM_000233.3(LHCGR): c.1505T> C (p.Leu502Pro) single nucleotide variant Pathogenic rs121912538 GRCh38 Chromosome 2, 48688292: 48688292
22 LHCGR NM_000233.3(LHCGR): c.430G> T (p.Val144Phe) single nucleotide variant Pathogenic rs121912539 GRCh37 Chromosome 2, 48950789: 48950789
23 LHCGR NM_000233.3(LHCGR): c.430G> T (p.Val144Phe) single nucleotide variant Pathogenic rs121912539 GRCh38 Chromosome 2, 48723650: 48723650
24 LHCGR NM_000233.3(LHCGR): c.458+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs76210637 GRCh37 Chromosome 2, 48950758: 48950758
25 LHCGR NM_000233.3(LHCGR): c.458+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs76210637 GRCh38 Chromosome 2, 48723619: 48723619
26 LHCGR NM_000233.3(LHCGR): c.872A> G (p.Asn291Ser) single nucleotide variant Benign rs12470652 GRCh37 Chromosome 2, 48921438: 48921438
27 LHCGR NM_000233.3(LHCGR): c.872A> G (p.Asn291Ser) single nucleotide variant Benign rs12470652 GRCh38 Chromosome 2, 48694299: 48694299
28 LHCGR NM_000233.3(LHCGR): c.1065T> C (p.Asp355=) single nucleotide variant Benign rs11125179 GRCh37 Chromosome 2, 48915871: 48915871
29 LHCGR NM_000233.3(LHCGR): c.1065T> C (p.Asp355=) single nucleotide variant Benign rs11125179 GRCh38 Chromosome 2, 48688732: 48688732
30 LHCGR NM_000233.3(LHCGR): c.935A> G (p.Asn312Ser) single nucleotide variant Benign rs2293275 GRCh38 Chromosome 2, 48694236: 48694236
31 LHCGR NM_000233.3(LHCGR): c.935A> G (p.Asn312Ser) single nucleotide variant Benign rs2293275 GRCh37 Chromosome 2, 48921375: 48921375
32 LHCGR NM_000233.3(LHCGR): c.866+8G> A single nucleotide variant Benign rs6755901 GRCh37 Chromosome 2, 48925746: 48925746
33 LHCGR NM_000233.3(LHCGR): c.866+8G> A single nucleotide variant Benign rs6755901 GRCh38 Chromosome 2, 48698607: 48698607
34 LHCGR NM_000233.3(LHCGR): c.*383C> A single nucleotide variant Uncertain significance rs777978092 GRCh38 Chromosome 2, 48687314: 48687314
35 LHCGR NM_000233.3(LHCGR): c.*383C> A single nucleotide variant Uncertain significance rs777978092 GRCh37 Chromosome 2, 48914453: 48914453
36 LHCGR NM_000233.3(LHCGR): c.*360G> A single nucleotide variant Benign rs10495956 GRCh38 Chromosome 2, 48687337: 48687337
37 LHCGR NM_000233.3(LHCGR): c.*360G> A single nucleotide variant Benign rs10495956 GRCh37 Chromosome 2, 48914476: 48914476
38 LHCGR NM_000233.3(LHCGR): c.*281delA deletion Likely benign rs558291070 GRCh38 Chromosome 2, 48687416: 48687416
39 LHCGR NM_000233.3(LHCGR): c.*281delA deletion Likely benign rs558291070 GRCh37 Chromosome 2, 48914555: 48914555
40 LHCGR NM_000233.3(LHCGR): c.*221G> C single nucleotide variant Benign rs62137532 GRCh38 Chromosome 2, 48687476: 48687476
41 LHCGR NM_000233.3(LHCGR): c.*221G> C single nucleotide variant Benign rs62137532 GRCh37 Chromosome 2, 48914615: 48914615
42 LHCGR NM_000233.3(LHCGR): c.*7C> T single nucleotide variant Likely benign rs200256443 GRCh38 Chromosome 2, 48687690: 48687690
43 LHCGR NM_000233.3(LHCGR): c.*7C> T single nucleotide variant Likely benign rs200256443 GRCh37 Chromosome 2, 48914829: 48914829
44 LHCGR NM_000233.3(LHCGR): c.2002A> C (p.Thr668Pro) single nucleotide variant Likely benign rs199807908 GRCh38 Chromosome 2, 48687795: 48687795
45 LHCGR NM_000233.3(LHCGR): c.2002A> C (p.Thr668Pro) single nucleotide variant Likely benign rs199807908 GRCh37 Chromosome 2, 48914934: 48914934
46 LHCGR NM_000233.3(LHCGR): c.606-5C> T single nucleotide variant Likely benign rs78135094 GRCh37 Chromosome 2, 48936166: 48936166
47 LHCGR NM_000233.3(LHCGR): c.606-5C> T single nucleotide variant Likely benign rs78135094 GRCh38 Chromosome 2, 48709027: 48709027
48 LHCGR NM_000233.3(LHCGR): c.-58G> T single nucleotide variant Benign rs10176989 GRCh37 Chromosome 2, 48982868: 48982868
49 LHCGR NM_000233.3(LHCGR): c.-58G> T single nucleotide variant Benign rs10176989 GRCh38 Chromosome 2, 48755729: 48755729
50 LHCGR NM_000233.3(LHCGR): c.*724T> C single nucleotide variant Uncertain significance rs886056145 GRCh38 Chromosome 2, 48686973: 48686973
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Expression for Leydig Cell Hypoplasia, Type I

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

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GO Terms for Leydig Cell Hypoplasia, Type I

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Sources for Leydig Cell Hypoplasia, Type I

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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