MCID: HYP270
MIFTS: 11

Hypospadias 2, X-Linked

Categories: Genetic diseases

Aliases & Classifications for Hypospadias 2, X-Linked

MalaCards integrated aliases for Hypospadias 2, X-Linked:

Name: Hypospadias 2, X-Linked 57 75 29 13 6 73
Hysp2 57 75
Hypospadias, Type 2, X-Linked 40

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
see also autosomal form,


HPO:

32
hypospadias 2, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 300758
MedGen 42 C2677879
MeSH 44 D007021
SNOMED-CT via HPO 69 204889008
UMLS 73 C2677879

Summaries for Hypospadias 2, X-Linked

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Genitourinary External Genitalia Male:
hypospadias, penoscrotal


Clinical features from OMIM:

300758

Human phenotypes related to Hypospadias 2, X-Linked:

32
# Description HPO Frequency HPO Source Accession
1 penoscrotal hypospadias 32 HP:0000808

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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