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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

Disease Browser
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Hypospadias (D007021)
..Starting node ..Hypospadias 1, X-Linked (C567482)
Child Nodes:
Sister Nodes:
..Anal Atresia, Hypospadias, and Penoscrotal Inversion (C566526)
..Hypertelorism with esophageal abnormality and hypospadias (C538387)
..Hypospadias 1, X-Linked (C567482)
..Hypospadias 2, X-Linked (C567462)
..Hypospadias 3, Autosomal (C567191)
..HYPOSPADIAS 4, X-LINKED, SUSCEPTIBILITY TO (OMIM:300856)
..Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss (C566373)
..Hypospadias-Mental Retardation Syndrome (C563067)
..Naguib-Richieri-Costa syndrome (C538332)
..Opitz GBBB Syndrome, X-Linked (C567932)
..Preaxial deficiency, postaxial polydactyly and hypospadias (C538278)
..Pseudovaginal Perineoscrotal Hypospadias (C535830)
..Radial hypoplasia, triphalangeal thumbs and hypospadias (C536262)
..Radius absent anogenital anomalies (C535281)
..Scalp ear nipple syndrome (C536623)
..Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias (C563509)
..Stratton-Parker Syndrome (C566105)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5623

Name:

Hypospadias 1, X-Linked

Definition:

Alternative IDs:

OMIM:300633

ParentIDs:

MESH:D007021|MESH:D040181

TreeNumbers:

C12.294.494.400/C567482 |C12.706.516/C567482 |C13.351.875.466/C567482 |C16.131.939.516/C567482 |C16.320.322/C567482

Synonyms:

Hysp1

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C567482
MeSH: C567482
OMIM: 300633;

Genes:

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0000051	Perineal hypospadias

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	Disease_hgmd
NM_000044.3(AR):c.1645C>T (p.Pro549Ser)	367	AR	Pathogenic	137852588	RCV000010514;	N	MedGen:C2678098,OMIM:300633	X	66863126	66863126	NM_000044.3:c.1645C>T	NP_000035.2:p.Pro549Ser	NC_000023.10:g.66863126C>T	OMIM Allelic Variant:313700.0037	C2678098 300633 Hypospadias 1, X-linked
NM_000044.3(AR):c.2610T>G (p.Ile870Met)	367	AR	Pathogenic	137852574	RCV000010498;	N	MedGen:C2678098,OMIM:300633	X	66943530	66943530	NM_000044.3:c.2610T>G	NP_000035.2:p.Ile870Met	NC_000023.10:g.66943530T>G	OMIM Allelic Variant:313700.0020	C2678098 300633 Hypospadias 1, X-linked