OMPHA
MCID: OMP009
MIFTS: 22

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 57 72 70
Omphalocele Due to Duplication of 1p31.3 57 72 13
Chromosome 1p31 Duplication Syndrome 57 72 6
Ompha 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
isolated cases


HPO:

31
omphalocele, autosomal:
Inheritance autosomal dominant inheritance sporadic


Classifications:



External Ids:

OMIM® 57 164750
MeSH 44 D006554
MedGen 41 C3277235
SNOMED-CT via HPO 68 18735004 263681008 396232000
UMLS 70 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) (Updated 05-Apr-2021)

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

UniProtKB/Swiss-Prot : 72 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 abdominal wall defect 9.7 PLOD1 GJB2
2 omphalocele, x-linked 9.6 PLOD1 GJB2
3 tooth disease 9.6 PLOD1 GJB2
4 charcot-marie-tooth disease 9.5 PLOD1 GJB2
5 omphalocele 9.4 PLOD1 OPHLC GJB2

Graphical network of the top 20 diseases related to Omphalocele, Autosomal:



Diseases related to Omphalocele, Autosomal

Symptoms & Phenotypes for Omphalocele, Autosomal

Human phenotypes related to Omphalocele, Autosomal:

31
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 31 HP:0000023
2 omphalocele 31 HP:0001539

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary External Genitalia Male:
inguinal hernia

Abdomen External Features:
omphalocele
abdominal wall hernia

Genitourinary External Genitalia Female:
inguinal hernia

Clinical features from OMIM®:

164750 (Updated 05-Apr-2021)

Drugs & Therapeutics for Omphalocele, Autosomal

Search Clinical Trials , NIH Clinical Center for Omphalocele, Autosomal

Genetic Tests for Omphalocele, Autosomal

Anatomical Context for Omphalocele, Autosomal

Publications for Omphalocele, Autosomal

Articles related to Omphalocele, Autosomal:

(show all 16)
# Title Authors PMID Year
1
Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele. 57
22499347 2012
2
Twins with omphalocele in Denmark (1970-1989). 57
20635337 2010
3
Omphalocele in trisomy 3q: further delineation of phenotype. 57
14616763 2003
4
Omphalocele in three generations with autosomal dominant transmission. 57
11897819 2002
5
Omphalocele and gastroschisis in Europe: a survey of 3 million births 1980-1990. EUROCAT Working Group. 57
8533813 1995
6
Familial omphalocele: considerations in genetic counseling. 57
1481822 1992
7
Genetic-epidemiologic study of omphalocele and gastroschisis: evidence for heterogeneity. 57
1481831 1992
8
Familial omphalocele and recurrence risk. 57
6702903 1984
9
Familial omphalocele: analysis of risk factors and case report. 57
7180872 1982
10
Familial gastroschisis and omphalocele. 57
6211093 1982
11
Omphalocele in half-siblings. 57
7418258 1980
12
Recurrence risk of omphalocele. 57
89528 1979
13
Four cases of omphalocele in two generations of the same family. 57
131012 1976
14
Familial occurrence of omphalocele. 57
4442871 1974
15
Proteolytic activation of Vibrio mimicus (Vm) major outer membrane protein haemagglutinin (HA) with Vm-HA/protease: Implication for understanding bacterial adherence. 61
17116978 2006
16
Vibrio mimicus attaches to the intestinal mucosa by outer membrane hemagglutinins specific to polypeptide moieties of glycoproteins. 61
9284134 1997

Variations for Omphalocele, Autosomal

ClinVar genetic disease variations for Omphalocele, Autosomal:

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 GJB2 NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) SNV Pathogenic 17016 rs80338945 GRCh37: 13:20763452-20763452
GRCh38: 13:20189313-20189313
3 LAMA5 NM_005560.6(LAMA5):c.857G>T (p.Arg286Leu) SNV Uncertain significance 986382 GRCh37: 20:60926966-60926966
GRCh38: 20:62351910-62351910
4 PGAP2 NM_014489.4(PGAP2):c.97G>A (p.Ala33Thr) SNV Uncertain significance 816936 rs1564998996 GRCh37: 11:3832586-3832586
GRCh38: 11:3811356-3811356

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
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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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