HYSP2
MCID: HYP270
MIFTS: 12

Hypospadias 2, X-Linked (HYSP2)

Categories: Endocrine diseases, Genetic diseases

Aliases & Classifications for Hypospadias 2, X-Linked

MalaCards integrated aliases for Hypospadias 2, X-Linked:

Name: Hypospadias 2, X-Linked 58 76 30 13 6 74
Hysp2 58 76
Hypospadias, Type 2, X-Linked 41

Characteristics:

OMIM:

58
Inheritance:
x-linked recessive

Miscellaneous:
see also autosomal form,


HPO:

33
hypospadias 2, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 58 300758
MeSH 45 D007021
MedGen 43 C2677879
SNOMED-CT via HPO 70 204889008
UMLS 74 C2677879

Summaries for Hypospadias 2, X-Linked

UniProtKB/Swiss-Prot : 76 Hypospadias 2, 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.

MalaCards based summary : Hypospadias 2, X-Linked, is also known as hysp2. An important gene associated with Hypospadias 2, X-Linked is MAMLD1 (Mastermind Like Domain Containing 1). Related phenotype is penoscrotal hypospadias.

Description from OMIM: 300758

Related Diseases for Hypospadias 2, X-Linked

Diseases in the Hypospadias 1, X-Linked family:

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

Symptoms & Phenotypes for Hypospadias 2, X-Linked

Human phenotypes related to Hypospadias 2, X-Linked:

33
# Description HPO Frequency HPO Source Accession
1 penoscrotal hypospadias 33 HP:0000808

Symptoms via clinical synopsis from OMIM:

58
Genitourinary External Genitalia Male:
hypospadias, penoscrotal

Clinical features from OMIM:

300758

Drugs & Therapeutics for Hypospadias 2, X-Linked

Search Clinical Trials , NIH Clinical Center for Hypospadias 2, X-Linked

Genetic Tests for Hypospadias 2, X-Linked

Genetic tests related to Hypospadias 2, X-Linked:

# Genetic test Affiliating Genes
1 Hypospadias 2, X-Linked 30 MAMLD1

Anatomical Context for Hypospadias 2, X-Linked

Publications for Hypospadias 2, X-Linked

Articles related to Hypospadias 2, X-Linked:

# Title Authors Year
1
CXorf6 is a causative gene for hypospadias. ( 17086185 )
2006

Variations for Hypospadias 2, X-Linked

ClinVar genetic disease variations for Hypospadias 2, X-Linked:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MAMLD1 NM_005491.4(MAMLD1): c.589G> T (p.Glu197Ter) single nucleotide variant Pathogenic rs121909493 GRCh37 Chromosome X, 149638434: 149638434
2 MAMLD1 NM_005491.4(MAMLD1): c.589G> T (p.Glu197Ter) single nucleotide variant Pathogenic rs121909493 GRCh38 Chromosome X, 150470162: 150470162
3 MAMLD1 NM_005491.4(MAMLD1): c.808C> T (p.Gln270Ter) single nucleotide variant Pathogenic rs121909494 GRCh37 Chromosome X, 149638653: 149638653
4 MAMLD1 NM_005491.4(MAMLD1): c.808C> T (p.Gln270Ter) single nucleotide variant Pathogenic rs121909494 GRCh38 Chromosome X, 150470381: 150470381
5 MAMLD1 NM_005491.4(MAMLD1): c.2176C> T (p.Arg726Ter) single nucleotide variant Pathogenic rs121909495 GRCh37 Chromosome X, 149671679: 149671679
6 MAMLD1 NM_005491.4(MAMLD1): c.2176C> T (p.Arg726Ter) single nucleotide variant Pathogenic rs121909495 GRCh38 Chromosome X, 150503409: 150503409
7 MAMLD1 NM_005491.4(MAMLD1): c.394G> T (p.Glu132Ter) single nucleotide variant Pathogenic rs1135402752 GRCh37 Chromosome X, 149638239: 149638239
8 MAMLD1 NM_005491.4(MAMLD1): c.394G> T (p.Glu132Ter) single nucleotide variant Pathogenic rs1135402752 GRCh38 Chromosome X, 150469967: 150469967

Expression for Hypospadias 2, X-Linked

Search GEO for disease gene expression data for Hypospadias 2, X-Linked.

Pathways for Hypospadias 2, X-Linked

GO Terms for Hypospadias 2, X-Linked

Sources for Hypospadias 2, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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