Aliases & Classifications for Omphalocele, X-Linked

MalaCards integrated aliases for Omphalocele, X-Linked:

Name: Omphalocele, X-Linked 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked


HPO:

31
omphalocele, x-linked:
Inheritance x-linked inheritance


External Ids:

OMIM® 57 310980
SNOMED-CT via HPO 68 18735004 263934009

Summaries for Omphalocele, X-Linked

MalaCards based summary : Omphalocele, X-Linked An important gene associated with Omphalocele, X-Linked is PLOD1 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1). Related phenotype is omphalocele.

More information from OMIM: 310980

Related Diseases for Omphalocele, X-Linked

Symptoms & Phenotypes for Omphalocele, X-Linked

Human phenotypes related to Omphalocele, X-Linked:

31
# Description HPO Frequency HPO Source Accession
1 omphalocele 31 HP:0001539

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen:
omphalocele

Clinical features from OMIM®:

310980 (Updated 20-May-2021)

Drugs & Therapeutics for Omphalocele, X-Linked

Search Clinical Trials , NIH Clinical Center for Omphalocele, X-Linked

Genetic Tests for Omphalocele, X-Linked

Anatomical Context for Omphalocele, X-Linked

Publications for Omphalocele, X-Linked

Articles related to Omphalocele, X-Linked:

# Title Authors PMID Year
1
Twins with omphalocele in Denmark (1970-1989). 57
20635337 2010
2
Familial occurrence of omphalocele suggesting sex-linked inheritance. 57
434891 1979

Variations for Omphalocele, X-Linked

ClinVar genetic disease variations for Omphalocele, X-Linked:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLOD1 NM_000302.4(PLOD1):c.1562G>A (p.Trp521Ter) SNV Pathogenic 374077 rs1057518879 GRCh37: 1:12025628-12025628
GRCh38: 1:11965571-11965571
2 PGAP2 NM_014489.4(PGAP2):c.97G>A (p.Ala33Thr) SNV Uncertain significance 816936 rs1564998996 GRCh37: 11:3832586-3832586
GRCh38: 11:3811356-3811356
3 LAMA5 NM_005560.6(LAMA5):c.857G>T (p.Arg286Leu) SNV Uncertain significance 986382 GRCh37: 20:60926966-60926966
GRCh38: 20:62351910-62351910

Expression for Omphalocele, X-Linked

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

Pathways for Omphalocele, X-Linked

GO Terms for Omphalocele, X-Linked

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