OMPHA
MCID: OMP009
MIFTS: 18

Omphalocele, Autosomal (OMPHA)

Categories: Fetal diseases, Gastrointestinal diseases, Liver diseases, Rare diseases

Aliases & Classifications for Omphalocele, Autosomal

MalaCards integrated aliases for Omphalocele, Autosomal:

Name: Omphalocele, Autosomal 58 76 74
Omphalocele Due to Duplication of 1p31.3 58 76 13
Chromosome 1p31 Duplication Syndrome 58 76
Ompha 76

Characteristics:

OMIM:

58
Inheritance:
isolated cases


HPO:

33
omphalocele, autosomal:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 164750
MeSH 45 D006554
MedGen 43 C3277235
SNOMED-CT via HPO 70 18735004 263681008 396232000
UMLS 74 C3277235

Summaries for Omphalocele, Autosomal

OMIM : 58 An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis (230750), in which the abdominal wall defect is located laterally to a normally closed umbilical ring with herniation of organs that are uncovered by membranes (summary by Bugge, 2010). On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, Yang et al. (1992) concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects. Omphalocele can be a feature of genetic disorders, such as Beckwith-Wiedemann syndrome (130650) and the Shprintzen-Goldberg syndrome (182210). (164750)

MalaCards based summary : Omphalocele, Autosomal, also known as omphalocele due to duplication of 1p31.3, is related to omphalocele and omphalocele, x-linked. An important gene associated with Omphalocele, Autosomal is OPHLC (Omphalocele Due To Duplication Of 1p31.3). Affiliated tissues include skin, and related phenotypes are inguinal hernia and omphalocele

UniProtKB/Swiss-Prot : 76 Omphalocele, autosomal: An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane- covered internal organs into the open base of the umbilical cord. It appears as a skin-covered protrusion at the umbilicus during crying, coughing, or straining.

Related Diseases for Omphalocele, Autosomal

Diseases in the Omphalocele family:

Omphalocele, Autosomal

Diseases related to Omphalocele, Autosomal via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 omphalocele 9.6 PLOD1 GJB2
2 omphalocele, x-linked 9.5 PLOD1 GJB2

Symptoms & Phenotypes for Omphalocele, Autosomal

Human phenotypes related to Omphalocele, Autosomal:

33
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 33 HP:0000023
2 omphalocele 33 HP:0001539

Symptoms via clinical synopsis from OMIM:

58
Genitourinary External Genitalia Male:
inguinal hernia

Abdomen External Features:
omphalocele
abdominal wall hernia

Genitourinary External Genitalia Female:
inguinal hernia

Clinical features from OMIM:

164750

Drugs & Therapeutics for Omphalocele, Autosomal

Search Clinical Trials , NIH Clinical Center for Omphalocele, Autosomal

Genetic Tests for Omphalocele, Autosomal

Anatomical Context for Omphalocele, Autosomal

MalaCards organs/tissues related to Omphalocele, Autosomal:

42
Skin

Publications for Omphalocele, Autosomal

Variations for Omphalocele, Autosomal

ClinVar genetic disease variations for Omphalocele, Autosomal:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
2 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338945 GRCh38 Chromosome 13, 20189313: 20189313
3 PLOD1 NM_000302.3(PLOD1): c.1562G> A (p.Trp521Ter) single nucleotide variant Pathogenic rs1057518879 GRCh37 Chromosome 1, 12025628: 12025628
4 PLOD1 NM_000302.3(PLOD1): c.1562G> A (p.Trp521Ter) single nucleotide variant Pathogenic rs1057518879 GRCh38 Chromosome 1, 11965571: 11965571

Expression for Omphalocele, Autosomal

Search GEO for disease gene expression data for Omphalocele, Autosomal.

Pathways for Omphalocele, Autosomal

GO Terms for Omphalocele, Autosomal

Sources for Omphalocele, Autosomal

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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