MCID: LYD013
MIFTS: 16

Leydig Cell Hypoplasia Type Ii

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

Aliases & Classifications for Leydig Cell Hypoplasia Type Ii

MalaCards integrated aliases for Leydig Cell Hypoplasia Type Ii:

Name: Leydig Cell Hypoplasia Type Ii 12
Leydig Cell Hypoplasia, Type Ii 29 6
46,xy Disorder of Sex Developement Due to Partial Luteinizing Hormone Resistance 12
Leydig Cell Hypoplasia Due to Partial Luteinizing Hormone Receptor Inactivation 12
46,xy Disorder of Sex Developement Due to Partial Lh Receptor Inactivation 12
Leydig Cell Hypoplasia Due to Partial Luteinizing Hormone Resistance 12
46,xy Disorder of Sex Developement Due to Partial Lh Resistance 12
Leydig Cell Hypoplasia Due to Partial Lh Receptor Inactivation 12
46,xy Dsd Due to Partial Luteinizing Hormone Resistance 12
Leydig Cell Hypoplasia Due to Partial Lh Resistance 12
46,xy Dsd Due to Partial Lh Receptor Inactivation 12
46,xy Dsd Due to Partial Lh Resistance 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0112261

Summaries for Leydig Cell Hypoplasia Type Ii

Disease Ontology : 12 A Leydig cell hypoplasia characterized by variable features ranging from micropenis to severe hypospadias and bifid scrotum that has material basis in homozygous or compound heterozygous partial inactivation mutation in LHCGR on chromosome 2p16.3.

MalaCards based summary : Leydig Cell Hypoplasia Type Ii, also known as leydig cell hypoplasia, type ii, is related to leydig cell hypoplasia, type i and leydig cell hypoplasia. An important gene associated with Leydig Cell Hypoplasia Type Ii is LHCGR (Luteinizing Hormone/Choriogonadotropin Receptor).

Related Diseases for Leydig Cell Hypoplasia Type Ii

Diseases in the Leydig Cell Hypoplasia family:

Leydig Cell Hypoplasia, Type I Leydig Cell Hypoplasia Type Ii

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

# Related Disease Score Top Affiliating Genes
1 leydig cell hypoplasia, type i 31.5 STON1-GTF2A1L LHCGR
2 leydig cell hypoplasia 29.7 STON1-GTF2A1L LHCGR
3 precocious puberty 9.7 STON1-GTF2A1L LHCGR
4 precocious puberty, male-limited 9.6 STON1-GTF2A1L LHCGR
5 pseudohermaphroditism 9.5 STON1-GTF2A1L LHCGR

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



Diseases related to Leydig Cell Hypoplasia Type Ii

Symptoms & Phenotypes for Leydig Cell Hypoplasia Type Ii

Drugs & Therapeutics for Leydig Cell Hypoplasia Type Ii

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

Genetic Tests for Leydig Cell Hypoplasia Type Ii

Genetic tests related to Leydig Cell Hypoplasia Type Ii:

# Genetic test Affiliating Genes
1 Leydig Cell Hypoplasia, Type Ii 29

Anatomical Context for Leydig Cell Hypoplasia Type Ii

Publications for Leydig Cell Hypoplasia Type Ii

Articles related to Leydig Cell Hypoplasia Type Ii:

# Title Authors PMID Year
1
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
2
A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype. 6
9626653 1998
3
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
4
Aberrant transcription of the LHCGR gene caused by a mutation in exon 6A leads to Leydig cell hypoplasia type II. 61
23232123 2013

Variations for Leydig Cell Hypoplasia Type Ii

ClinVar genetic disease variations for Leydig Cell Hypoplasia Type Ii:

6
# 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

Expression for Leydig Cell Hypoplasia Type Ii

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

Pathways for Leydig Cell Hypoplasia Type Ii

GO Terms for Leydig Cell Hypoplasia Type Ii

Sources for Leydig Cell Hypoplasia Type Ii

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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
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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