HYSP2
MCID: HYP270
MIFTS: 14

Hypospadias 2, X-Linked (HYSP2)

Categories: Genetic diseases

Aliases & Classifications for Hypospadias 2, X-Linked

MalaCards integrated aliases for Hypospadias 2, X-Linked:

Name: Hypospadias 2, X-Linked 56 73 29 13 6 71
Hysp2 56 73
Hypospadias, Type 2, X-Linked 39

Characteristics:

OMIM:

56
Inheritance:
x-linked recessive

Miscellaneous:
see also autosomal form,


HPO:

31
hypospadias 2, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 56 300758
OMIM Phenotypic Series 56 PS300633
MeSH 43 D007021
MedGen 41 C2677879
SNOMED-CT via HPO 68 204889008
UMLS 71 C2677879

Summaries for Hypospadias 2, X-Linked

UniProtKB/Swiss-Prot : 73 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.

More information from OMIM: 300758 PS300633

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:

31
# Description HPO Frequency HPO Source Accession
1 penoscrotal hypospadias 31 HP:0000808

Symptoms via clinical synopsis from OMIM:

56
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 29 MAMLD1

Anatomical Context for Hypospadias 2, X-Linked

Publications for Hypospadias 2, X-Linked

Articles related to Hypospadias 2, X-Linked:

# Title Authors PMID Year
1
CXorf6 is a causative gene for hypospadias. 56 6
17086185 2006

Variations for Hypospadias 2, X-Linked

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

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAMLD1 NM_001177465.3(MAMLD1):c.514G>T (p.Glu172Ter)SNV Pathogenic 11611 rs121909493 X:149638434-149638434 X:150470162-150470162
2 MAMLD1 NM_001177465.3(MAMLD1):c.733C>T (p.Gln245Ter)SNV Pathogenic 11612 rs121909494 X:149638653-149638653 X:150470381-150470381
3 MAMLD1 NM_001177465.3(MAMLD1):c.1843-6553C>TSNV Pathogenic 11613 rs121909495 X:149671679-149671679 X:150503409-150503409
4 MAMLD1 NM_001177465.3(MAMLD1):c.319G>T (p.Glu107Ter)SNV Pathogenic 431447 rs1135402752 X:149638239-149638239 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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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