OMPHALOCELE, AUTOSOMAL

General Information (adopted from Orphanet):

Synonyms, Signs: CHROMOSOME 1p31 DUPLICATION SYNDROME
Number of Symptoms 3
OrphanetNr:
OMIM Id: 164750
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001539) Omphalocele 102 / 7739
2
(HPO:0004299) Hernia of the abdominal wall 176 / 7739
3
(HPO:0000023) Inguinal hernia 181 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM DiLiberti (1982) reported a family with multiple cases of omphalocele and abdominal wall hernias in an apparent autosomal dominant pedigree pattern. Males in 3 successive generations had umbilical hernia, sometimes with inguinal hernia, and 2 girls in the ...
Molecular genetics OMIM Using oligonucleotide microsphere hybridization in a 5-generation family in which 9 members over 3 generations had isolated omphalocele mapping to chromosome 1p31, Radhakrishna et al. (2012) identified an approximately 710-kb duplication at 1p31.3, with the proximal border at ...
Population genetics OMIM Calzolari et al. (1995) reported that a total of 732 cases of omphalocele and 274 cases of gastroschisis (230750) were registered in 21 regional registers in Europe (EUROCAT registers) during the period 1980 to 1990. The total prevalence ...