GIDID
MCID: GST093
MIFTS: 41
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Gastrointestinal Defects and Immunodeficiency Syndrome (GIDID)
Categories:
Blood diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases
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MalaCards integrated aliases for Gastrointestinal Defects and Immunodeficiency Syndrome:
Characteristics:Orphanet epidemiological data:59
multiple intestinal atresia
Inheritance: Autosomal recessive; Age of onset: Neonatal; Age of death: early childhood,infantile;
combined immunodeficiency-enteropathy spectrum
Inheritance: Autosomal recessive; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
fatal in first few months of life in most cases HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Blood diseases Gastrointestinal diseases Immune diseases
ICD10:
34
External Ids:
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OMIM
:
57
Gastrointestinal defects and immunodeficiency syndrome (GIDID) is characterized by multiple intestinal atresia, in which atresia occurs at various levels throughout the small and large intestines. Surgical outcomes are poor, and the condition is usually fatal within the first month of life. Some patients exhibit inflammatory bowel disease (IBD), with or without intestinal atresia, and in some cases, the intestinal features are associated with either mild or severe combined immunodeficiency (Samuels et al., 2013; Avitzur et al., 2014; Lemoine et al., 2014). (243150)
MalaCards based summary : Gastrointestinal Defects and Immunodeficiency Syndrome, also known as familial intestinal polyatresia syndrome, is related to intestinal atresia and familial isolated pituitary adenoma. An important gene associated with Gastrointestinal Defects and Immunodeficiency Syndrome is TTC7A (Tetratricopeptide Repeat Domain 7A). Affiliated tissues include pituitary, skin and thyroid, and related phenotypes are type i diabetes mellitus and hepatitis NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2300Disease definitionMultiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.Visit the Orphanet disease page for more resources. UniProtKB/Swiss-Prot : 75 Gastrointestinal defects and immunodeficiency syndrome: A rare, severe congenital disorder in which obstructions occur at various levels throughout the small and large intestines, ultimately leading to organ failure. Surgical interventions are palliative but do not provide long-term survival. Severe immunodeficiency may be associated with the phenotype. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:243150Human phenotypes related to Gastrointestinal Defects and Immunodeficiency Syndrome:59 32 (show all 34)
MGI Mouse Phenotypes related to Gastrointestinal Defects and Immunodeficiency Syndrome:46
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Cochrane evidence based reviews: intestinal atresia, multiple |
MalaCards organs/tissues related to Gastrointestinal Defects and Immunodeficiency Syndrome:41
Pituitary,
Skin,
Thyroid,
Thymus,
Lung,
Pancreas,
T Cells
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Articles related to Gastrointestinal Defects and Immunodeficiency Syndrome:
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UniProtKB/Swiss-Prot genetic disease variations for Gastrointestinal Defects and Immunodeficiency Syndrome:75
ClinVar genetic disease variations for Gastrointestinal Defects and Immunodeficiency Syndrome:6 (show top 50) (show all 142)
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Search
GEO
for disease gene expression data for Gastrointestinal Defects and Immunodeficiency Syndrome.
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Biological processes related to Gastrointestinal Defects and Immunodeficiency Syndrome according to GeneCards Suite gene sharing:
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