HYSP1
MCID: HYP284
MIFTS: 21

Hypospadias 1, X-Linked (HYSP1)

Categories: Genetic diseases, Reproductive diseases

Aliases & Classifications for Hypospadias 1, X-Linked

MalaCards integrated aliases for Hypospadias 1, X-Linked:

Name: Hypospadias 1, X-Linked 57 72 29 13 6 70
Hysp1 57 72
Hypospadias, Type 1, X-Linked 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked recessive

Miscellaneous:
see also autosomal form,


HPO:

31
hypospadias 1, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM® 57 300633
OMIM Phenotypic Series 57 PS300633
MeSH 44 D007021
MedGen 41 C2678098
SNOMED-CT via HPO 68 204890004
UMLS 70 C2678098

Summaries for Hypospadias 1, X-Linked

OMIM® : 57 Hypospadias is a common congenital malformation of the penis, affecting approximately 1 in 750 births in Europe. Due to developmental arrest of urethral fusion, the urethral opening is displaced along the ventral side of the penis. The opening can be located glanular, penile, or even more posterior in the scrotum or perineum. Although most children with this condition undergo surgery in their second year of life, serious medical, social, and sexual problems may still exist later in life (summary by van der Zanden et al., 2011). Hypospadias is a feature of several syndromic disorders, including the androgen insensitivity syndrome (300068) and Opitz syndrome (300000). (300633) (Updated 05-Apr-2021)

MalaCards based summary : Hypospadias 1, X-Linked, also known as hysp1, is related to complete androgen insensitivity syndrome and androgen insensitivity syndrome. An important gene associated with Hypospadias 1, X-Linked is AR (Androgen Receptor). Related phenotype is perineal hypospadias.

UniProtKB/Swiss-Prot : 72 Hypospadias 1, X-linked: A common malformation in which the urethra opens on the ventral side of the penis, due to developmental arrest of urethral fusion. The opening can be located glandular, penile, or even more posterior in the scrotum or perineum. Hypospadias is a feature of several syndromic disorders, including the androgen insensitivity syndrome and Opitz syndrome.

Related Diseases for Hypospadias 1, X-Linked

Diseases in the Hypospadias 1, X-Linked family:

Hypospadias 2, X-Linked Hypospadias 4, X-Linked

Diseases related to Hypospadias 1, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 complete androgen insensitivity syndrome 9.7 LOC109504725 AR
2 androgen insensitivity syndrome 9.7 LOC109504725 AR
3 spinal and bulbar muscular atrophy, x-linked 1 9.7 LOC109504725 AR
4 muscular atrophy 9.6 LOC109504725 AR
5 dentatorubral-pallidoluysian atrophy 9.6 LOC109504725 AR
6 neuromuscular disease 9.5 LOC109504725 AR

Graphical network of the top 20 diseases related to Hypospadias 1, X-Linked:



Diseases related to Hypospadias 1, X-Linked

Symptoms & Phenotypes for Hypospadias 1, X-Linked

Human phenotypes related to Hypospadias 1, X-Linked:

31
# Description HPO Frequency HPO Source Accession
1 perineal hypospadias 31 HP:0000051

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary External Genitalia Male:
hypospadias, perineal

Clinical features from OMIM®:

300633 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hypospadias 1, X-Linked

Search Clinical Trials , NIH Clinical Center for Hypospadias 1, X-Linked

Genetic Tests for Hypospadias 1, X-Linked

Genetic tests related to Hypospadias 1, X-Linked:

# Genetic test Affiliating Genes
1 Hypospadias 1, X-Linked 29 AR

Anatomical Context for Hypospadias 1, X-Linked

Publications for Hypospadias 1, X-Linked

Articles related to Hypospadias 1, X-Linked:

# Title Authors PMID Year
1
Androgen receptor gene mutations are rarely associated with isolated penile hypospadias. 57 6
8683794 1996
2
Mutations of the androgen receptor gene identified in perineal hypospadias. 6 57
8097257 1993
3
Common variants in DGKK are strongly associated with risk of hypospadias. 57
21113153 2011
4
Complex segregation analysis of hypospadias. 57
12215834 2002
5
Rise in prevalence of hypospadias. 57
9519944 1998
6
Mutations of the androgen receptor coding sequence are infrequent in patients with isolated hypospadias. 57
7673412 1995
7
Genetic and environmental factors in hypospadias. 57
2231648 1990
8
Hypospadias in a consanguineous family. 57
3605228 1987

Variations for Hypospadias 1, X-Linked

ClinVar genetic disease variations for Hypospadias 1, X-Linked:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AR NM_000044.6(AR):c.2610T>G (p.Ile870Met) SNV Pathogenic 9824 rs137852574 GRCh37: X:66943530-66943530
GRCh38: X:67723688-67723688
2 AR NM_000044.6(AR):c.1645C>T (p.Pro549Ser) SNV Pathogenic 9840 rs137852588 GRCh37: X:66863126-66863126
GRCh38: X:67643284-67643284
3 AR NM_000044.6(AR):c.2599G>A (p.Val867Met) SNV Pathogenic 9806 rs137852564 GRCh37: X:66942818-66942818
GRCh38: X:67722976-67722976
4 LOC109504725 , AR NM_000044.6(AR):c.173A>T (p.Gln58Leu) SNV Uncertain significance 402390 rs200185441 GRCh37: X:66765161-66765161
GRCh38: X:67545319-67545319
5 AR NM_000044.6(AR):c.1174C>T (p.Pro392Ser) SNV Uncertain significance 216890 rs201934623 GRCh37: X:66766162-66766162
GRCh38: X:67546320-67546320
6 AR NM_000044.6(AR):c.1370_1372GCG[5] (p.Gly462_Gly473del) Microsatellite Uncertain significance 587547 rs746853821 GRCh37: X:66766357-66766392
GRCh38: X:67546515-67546550

Expression for Hypospadias 1, X-Linked

Search GEO for disease gene expression data for Hypospadias 1, X-Linked.

Pathways for Hypospadias 1, X-Linked

GO Terms for Hypospadias 1, X-Linked

Sources for Hypospadias 1, X-Linked

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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