MCID: OMP009
MIFTS: 16

Omphalocele, Autosomal

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Omphalocele, Autosomal

MalaCards integrated aliases for Omphalocele, Autosomal:

Name: Omphalocele, Autosomal 57 75 73
Omphalocele Due to Duplication of 1p31.3 57 75 13
Chromosome 1p31 Duplication Syndrome 57 75
Ompha 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant form
isolated omphalocele autosomal recessive vs. multifactorial


HPO:

32
omphalocele, autosomal:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 164750
MedGen 42 C3277235
MeSH 44 D006554
SNOMED-CT via HPO 69 263681008 396232000 18735004
UMLS 73 C3277235

Summaries for Omphalocele, Autosomal

OMIM : 57 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. 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 : 75 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 9.0 GJB2 PLOD1

Symptoms & Phenotypes for Omphalocele, Autosomal

Symptoms via clinical synopsis from OMIM:

57
Abdomen:
omphalocele
abdominal wall hernia
inguinal hernia


Clinical features from OMIM:

164750

Human phenotypes related to Omphalocele, Autosomal:

32
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 32 HP:0000023
2 omphalocele 32 HP:0001539

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:

41
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 rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
2 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant 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 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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