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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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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Disorders of Sex Development (D012734)
..Starting node ..46, XY Disorders of Sex Development (D058490)
Child 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
Sister Nodes:
..46, XX Disorders of Sex Development (D058489) 25
..46, XY Disorders of Sex Development (D058490) 48
..Adrenogenital Syndrome (D047808) 17
..Campomelic Dysplasia with Autosomal Sex Reversal (C564282)
..Gonadal Dysgenesis (D006059) 37
..Meacham Syndrome (C563821)
..Ovotesticular Disorders of Sex Development (D050090) 3
..Sex Chromosome Disorders of Sex Development (D058533) 8
..Verloes Gillerot Fryns syndrome (C536539)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

Name:

46, XY Disorders of Sex Development

Definition:

Congenital conditions in individuals with a male karyotype, in which the development of the gonadal or anatomical sex is atypical.

Alternative IDs:

OMIM:612965

ParentIDs:

MESH:D012734

TreeNumbers:

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

Synonyms:

Slim Mappings:

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

Reference:

MedGen: D058490
MeSH: D058490
OMIM: 612965;

Genes: NR5A1;

Phenotypes

1	HP:0001470	Sex-limited autosomal dominant
2	HP:0000062	Ambiguous genitalia	HP:0040283
3	HP:0008665	Clitoral hypertrophy	HP:0040283
4	HP:0008232	Elevated circulating follicle stimulating hormone level
5	HP:0011969	Elevated circulating luteinizing hormone level
6	HP:0000133	Gonadal dysgenesis
7	HP:0000013	Hypoplasia of the uterus	HP:0040283
8	HP:0000808	Penoscrotal hypospadias
9	HP:0012245	Sex reversal
10	HP:0005092	Streaky metaphyseal sclerosis

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_004959.4(NR5A1):c.1310T>A (p.Leu437Gln)	2516	NR5A1	Pathogenic	104894120	RCV000013647;	N	MedGen:C2751824,OMIM:612965,ORPHA:98085	9	127245113	127245113	NM_004959.4:c.1310T>A	NP_004950.2:p.Leu437Gln	NC_000009.11:g.127245113A>T	OMIM Allelic Variant:184757.0010	C2751824 612965 46,XY sex reversal, type 3
NM_004959.4(NR5A1):c.1210T>G (p.Tyr404Asp)	2516	NR5A1	Pathogenic	863224904	RCV000199384;	N	MedGen:C2751824,OMIM:612965,ORPHA:98085	9	127245213	127245213	NM_004959.4:c.1210T>G	NP_004950.2:p.Tyr404Asp	NC_000009.11:g.127245213A>C	-	C2751824 612965 46,XY sex reversal, type 3
NM_004959.4(NR5A1):c.877G>A (p.Asp293Asn)	2516	NR5A1	Pathogenic	121918655	RCV000013651; RCV000013650;	N	MedGen:C2751824,OMIM:612965,ORPHA:98085; MedGen:C2751825,OMIM:612964	9	127255422	127255422	NM_004959.4:c.877G>A	NP_004950.2:p.Asp293Asn	NC_000009.11:g.127255422C>T	OMIM Allelic Variant:184757.0012	C2751824 612965 46,XY sex reversal, type 3; C2751825 612964 Premature ovarian failure 7
NM_004959.4(NR5A1):c.666delC (p.Asn222Lysfs)	2516	NR5A1	Pathogenic	606231206	RCV000013649; RCV000013648;	N	MedGen:C2751824,OMIM:612965,ORPHA:98085; MedGen:C2751825,OMIM:612964	9	127262573	127262573	NM_004959.4:c.666delC	NP_004950.2:p.Asn222Lysfs	NC_000009.11:g.127262573delG	OMIM Allelic Variant:184757.0011	C2751824 612965 46,XY sex reversal, type 3; C2751825 612964 Premature ovarian failure 7
NM_004959.4(NR5A1):c.390delG (p.Pro131Argfs)	2516	NR5A1	Pathogenic	606231207	RCV000013655; RCV000013654;	N	MedGen:C2751824,OMIM:612965,ORPHA:98085; MedGen:C2751825,OMIM:612964	9	127262849	127262849	NM_004959.4:c.390delG	NP_004950.2:p.Pro131Argfs	NC_000009.11:g.127262849delC	OMIM Allelic Variant:184757.0014	C2751824 612965 46,XY sex reversal, type 3; C2751825 612964 Premature ovarian failure 7
NM_004959.4(NR5A1):c.275G>A (p.Arg92Gln)	2516	NR5A1	Pathogenic	104894119	RCV000013640;	N	MedGen:C2751824,OMIM:612965,ORPHA:98085	9	127262964	127262964	NM_004959.4:c.275G>A	NP_004950.2:p.Arg92Gln	NC_000009.11:g.127262964C>T	OMIM Allelic Variant:184757.0003	C2751824 612965 46,XY sex reversal, type 3
NM_004959.4(NR5A1):c.271G>A (p.Gly91Ser)	2516	NR5A1	Pathogenic	104894126	RCV000013646;	N	MedGen:C2751824,OMIM:612965,ORPHA:98085	9	127262968	127262968	NM_004959.4:c.271G>A	NP_004950.2:p.Gly91Ser	NC_000009.11:g.127262968C>T	OMIM Allelic Variant:184757.0009	C2751824 612965 46,XY sex reversal, type 3
NM_004959.4(NR5A1):c.234G>A (p.Met78Ile)	2516	NR5A1	Pathogenic	104894125	RCV000013645;	N	MedGen:C2751824,OMIM:612965,ORPHA:98085	9	127265368	127265368	NM_004959.4:c.234G>A	NP_004950.2:p.Met78Ile	NC_000009.11:g.127265368C>T	OMIM Allelic Variant:184757.0008	C2751824 612965 46,XY sex reversal, type 3
NM_004959.4(NR5A1):c.151G>T (p.Glu51Ter)	2516	NR5A1	Pathogenic	775441984	RCV000197157;	N	MedGen:C2751824,OMIM:612965,ORPHA:98085	9	127265451	127265451	NM_004959.4:c.151G>T	NP_004950.2:p.Glu51Ter	NC_000009.11:g.127265451C>A	-	C2751824 612965 46,XY sex reversal, type 3
NM_004959.4(NR5A1):c.104_105delGCinsAA (p.Gly35Glu)	2516	NR5A1	Pathogenic	121918654	RCV000013638;	N	MedGen:C2751824,OMIM:612965,ORPHA:98085	9	127265497	127265498	NM_004959.4:c.104_105delGCinsAA	NP_004950.2:p.Gly35Glu	NC_000009.11:g.127265497_127265498delGCinsTT	OMIM Allelic Variant:184757.0001	C2751824 612965 46,XY sex reversal, type 3
NM_004959.4(NR5A1):c.48C>A (p.Cys16Ter)	2516	NR5A1	Pathogenic	104894123	RCV000013642;	N	MedGen:C2751824,OMIM:612965,ORPHA:98085	9	127265627	127265627	NM_004959.4:c.48C>A	NP_004950.2:p.Cys16Ter	NC_000009.11:g.127265627G>T	OMIM Allelic Variant:184757.0005	C2751824 612965 46,XY sex reversal, type 3
NM_004959.4(NR5A1):c.43G>A (p.Val15Met)	2516	NR5A1	Pathogenic	104894124	RCV000013644;	N	MedGen:C2751824,OMIM:612965,ORPHA:98085	9	127265632	127265632	NM_004959.4:c.43G>A	NP_004950.2:p.Val15Met	NC_000009.11:g.127265632C>T	OMIM Allelic Variant:184757.0007	C2751824 612965 46,XY sex reversal, type 3
NM_004959.4(NR5A1):c.18delC (p.Asp6Glufs)	2516	NR5A1	Pathogenic	606231205	RCV000013643;	N	MedGen:C2751824,OMIM:612965,ORPHA:98085	9	127265657	127265657	NM_004959.4:c.18delC	NP_004950.2:p.Asp6Glufs	NC_000009.11:g.127265657delG	OMIM Allelic Variant:184757.0006	C2751824 612965 46,XY sex reversal, type 3
NM_004959.4(NR5A1):c.3G>A (p.Met1Ile)	2516	NR5A1	Pathogenic	121918656	RCV000013653; RCV000013652;	N	MedGen:C2751824,OMIM:612965,ORPHA:98085; MedGen:C2751825,OMIM:612964	9	127265672	127265672	NM_004959.4:c.3G>A	NP_004950.2:p.Met1Ile	NC_000009.11:g.127265672C>T	OMIM Allelic Variant:184757.0013	C2751824 612965 46,XY sex reversal, type 3; C2751825 612964 Premature ovarian failure 7