HYSP3
MCID: HYP545
MIFTS: 14

Hypospadias 3, Autosomal (HYSP3)

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

Aliases & Classifications for Hypospadias 3, Autosomal

MalaCards integrated aliases for Hypospadias 3, Autosomal:

Name: Hypospadias 3, Autosomal 57 29 13 39 70
Hysp3 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant
multifactorial

Miscellaneous:
see also two x-linked forms


HPO:

31
hypospadias 3, autosomal:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 146450
OMIM Phenotypic Series 57 PS300633
MedGen 41 C2675154
SNOMED-CT via HPO 68 204888000 263681008
UMLS 70 C2675154

Summaries for Hypospadias 3, Autosomal

MalaCards based summary : Hypospadias 3, Autosomal, is also known as hysp3. An important gene associated with Hypospadias 3, Autosomal is HYSP3 (Hypospadias 3, Autosomal). Related phenotype is hypospadias.

More information from OMIM: 146450 PS300633

Related Diseases for Hypospadias 3, Autosomal

Diseases in the Hypospadias family:

Hypospadias 3, Autosomal Posterior Hypospadias

Symptoms & Phenotypes for Hypospadias 3, Autosomal

Human phenotypes related to Hypospadias 3, Autosomal:

31
# Description HPO Frequency HPO Source Accession
1 hypospadias 31 HP:0000047

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary External Genitalia Male:
hypospadias

Clinical features from OMIM®:

146450 (Updated 20-May-2021)

Drugs & Therapeutics for Hypospadias 3, Autosomal

Search Clinical Trials , NIH Clinical Center for Hypospadias 3, Autosomal

Genetic Tests for Hypospadias 3, Autosomal

Genetic tests related to Hypospadias 3, Autosomal:

# Genetic test Affiliating Genes
1 Hypospadias 3, Autosomal 29

Anatomical Context for Hypospadias 3, Autosomal

Publications for Hypospadias 3, Autosomal

Articles related to Hypospadias 3, Autosomal:

# Title Authors PMID Year
1
A new susceptibility locus for hypospadias on chromosome 7q32.2-q36.1. 57
18661284 2008
2
Hypospadias in a consanguineous family. 57
3605228 1987
3
Uncomplicated familial hypospadias: evidence for autosomal recessive inheritance. 57
4003448 1985
4
Inheritance of uncomplicated hypospadias. 57
440901 1979
5
A gene for hypospadias in a child with presumed tetrasomy 18p. 57
293130 1979
6
Hypospadias in successive generations - possible dominant gene inheritance. 57
1261066 1976

Variations for Hypospadias 3, Autosomal

Expression for Hypospadias 3, Autosomal

Search GEO for disease gene expression data for Hypospadias 3, Autosomal.

Pathways for Hypospadias 3, Autosomal

GO Terms for Hypospadias 3, Autosomal

Sources for Hypospadias 3, Autosomal

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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