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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: 46, XY Disorders of Sex Development (D058490)
..Starting node ..Leydig Cell Hypoplasia (C562567)
Child Nodes:
Sister Nodes:
..17-Hydroxysteroid Dehydrogenase Deficiency (C537805) 1
..46,Xy True Hermaphroditism, Sry-Related (C567575)
..Androgen-Insensitivity Syndrome (D013734) 2
..Denys-Drash Syndrome (D030321)
..Frasier Syndrome (D052159)
..Gonadal Dysgenesis, 46,XY (D006061) 18
..Kallmann Syndrome (D017436) 9
..Leydig Cell Hypoplasia (C562567)
..Lipoid congenital adrenal hyperplasia (C537027)
..Male pseudohermaphroditism due to defective LH molecule (C535692)
..Male pseudohermaphroditism/mental retardation syndrome, Verloes type (C535693)
..Nivelon Nivelon Mabille syndrome (C536123)
..Persistent Mullerian duct syndrome (C536665)
..Pseudovaginal Perineoscrotal Hypospadias (C535830)
..Urioste Martinez-Frias syndrome (C536478)
..WAGR Syndrome (D017624) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6416

Name:

Leydig Cell Hypoplasia

Definition:

Alternative IDs:

OMIM:238320

ParentIDs:

MESH:D058490

TreeNumbers:

C12.706.316.096/C562567 |C13.351.875.253.096/C562567 |C16.131.939.316.096/C562567 |C19.391.119.096/C562567 |F03.800.399.750/C562567

Synonyms:

46,XY Disorder of Sex Development Due To LH Defects |Hypergonadotropic Hypogonadism, Male, Due To LHCGR Defect |HYPERGONADOTROPIC HYPOGONADISM, MALE, DUE TO LHCGR DEFECT, INCLUDED |Leydig Cell Agenesis |LEYDIG CELL AGENESIS LEYDIG CELL HYPOPLASIA, TYPE II, I

Slim Mappings:

Congenital abnormality|Endocrine system disease|Mental disorder|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C562567
MeSH: C562567
OMIM: 238320;

Genes: LHCGR;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000815	Hypergonadotropic hypogonadism
3	HP:0000837	Increased circulating gonadotropin level

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000233.3(LHCGR):c.1777G>C (p.Ala593Pro)	-1	-	Pathogenic	121912520	RCV000015465; RCV000015466;	N	MedGen:C0266432,OMIM:238320,SNOMED CT:56212008; MedGen:C2673498	2	48915159	48915159	NM_000233.3:c.1777G>C	NP_000224.2:p.Ala593Pro	NC_000002.11:g.48915159C>G	OMIM Allelic Variant:152790.0004	C0266432 238320 Leydig cell agenesis; C2673498 Luteinizing hormone resistance, female
NM_000233.3(LHCGR):c.1660C>T (p.Arg554Ter)	-1	-	Pathogenic	121912524	RCV000015470; RCV000015471;	N	MedGen:C0266432,OMIM:238320,SNOMED CT:56212008; MedGen:C2673498	2	48915276	48915276	NM_000233.3:c.1660C>T	NP_000224.2:p.Arg554Ter	NC_000002.11:g.48915276G>A	OMIM Allelic Variant:152790.0008	C0266432 238320 Leydig cell agenesis; C2673498 Luteinizing hormone resistance, female
NM_000233.3(LHCGR):c.1635C>A (p.Cys545Ter)	-1	-	Pathogenic	121912523	RCV000015469;	N	MedGen:C0266432,OMIM:238320,SNOMED CT:56212008	2	48915301	48915301	NM_000233.3:c.1635C>A	NP_000224.2:p.Cys545Ter	NC_000002.11:g.48915301G>T	OMIM Allelic Variant:152790.0007	C0266432 238320 Leydig cell agenesis
NM_000233.3(LHCGR):c.1627T>C (p.Cys543Arg)	-1	-	Pathogenic	121912537	RCV000015464;	N	MedGen:C0266432,OMIM:238320,SNOMED CT:56212008	2	48915309	48915309	NM_000233.3:c.1627T>C	NP_000224.2:p.Cys543Arg	NC_000002.11:g.48915309A>G	OMIM Allelic Variant:152790.0026	C0266432 238320 Leydig cell agenesis
NM_000233.3(LHCGR):c.1505T>C (p.Leu502Pro)	-1	-	Pathogenic	121912538	RCV000015491;	N	MedGen:C0266432,OMIM:238320,SNOMED CT:56212008	2	48915431	48915431	NM_000233.3:c.1505T>C	NP_000224.2:p.Leu502Pro	NC_000002.11:g.48915431A>G	OMIM Allelic Variant:152790.0027	C0266432 238320 Leydig cell agenesis
NM_000233.3(LHCGR):c.1060G>A (p.Glu354Lys)	-1	-	Pathogenic	121912529	RCV000015477; RCV000015478;	N	MedGen:C0266432,OMIM:238320,SNOMED CT:56212008; MedGen:C2673498	2	48915876	48915876	NM_000233.3:c.1060G>A	NP_000224.2:p.Glu354Lys	NC_000002.11:g.48915876C>T	OMIM Allelic Variant:152790.0014	C0266432 238320 Leydig cell agenesis; C2673498 Luteinizing hormone resistance, female
NM_000233.3(LHCGR):c.1027T>A (p.Cys343Ser)	-1	-	Pathogenic	121912536	RCV000015490;	N	MedGen:C0266432,OMIM:238320,SNOMED CT:56212008	2	48915909	48915909	NM_000233.3:c.1027T>A	NP_000224.2:p.Cys343Ser	NC_000002.11:g.48915909A>T	OMIM Allelic Variant:152790.0025	C0266432 238320 Leydig cell agenesis
NM_000233.3(LHCGR):c.430G>T (p.Val144Phe)	-1	-	Pathogenic	121912539	RCV000015492;	N	MedGen:C0266432,OMIM:238320,SNOMED CT:56212008	2	48950789	48950789	NM_000233.3:c.430G>T	NP_000224.2:p.Val144Phe	NC_000002.11:g.48950789C>A	OMIM Allelic Variant:152790.0028	C0266432 238320 Leydig cell agenesis