Gastrointestinal defects and immunodeficiency syndrome 1

Preferred Label : Gastrointestinal defects and immunodeficiency syndrome 1;

Symbol : GIDID1;

CISMeF acronym : GIDID;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FIPA; MINAT; Multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency; Intestinal atresia, multiple; Familial intestinal polyatresia syndrome;

Description : Hereditary multiple intestinal atresia is a rare, severe congenital disorder 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. In some cases, MINAT is associated with either mild or severe combined immunodeficiency (SCID; see 601457) (summary by Samuels et al., 2013).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tetratricopeptide repeat domain-containing protein-7A gene (TTC7A, 609332.0001);

Prefixed ID : #243150;

Details

Origin ID

243150;

UMLS CUI

C0220744;

Automatic exact mappings (from CISMeF team)
- Combined immunodeficiency-enteropathy spectrum [ORDO Disease]
- Familial isolated pituitary adenoma [ORDO Disease]
- Familial isolated pituitary adenoma (disorder) [SNOMED CT concept]
- TTC7A wt Allele [NCIt concept]
- multiple intestinal atresia [DO Concept]
- pituitary adenoma, familial isolated [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Gastrointestinal Defects And Immunodeficiency Syndrome [NCIt concept]
- Gastrointestinal Defects and Immunodeficiency Syndrome [NCIt concept]
- Multiple gastrointestinal atresias (disorder) [SNOMED CT concept]
- Multiple intestinal atresia [ORDO Disease]
- intestinal atresia, multiple [MeSH concept]
- intestinal atresia, multiple [MeSH Supplementary Concept]
DO Cross reference
- multiple intestinal atresia [DO Concept]
Genes related to phenotype
- Tetratricopeptide repeat domain-containing protein 7a [OMIM gene]
HPO term(s)
- Agammaglobulinemia [HPO term]
- Autoimmune hemolytic anemia [HPO term]
- Autoimmunity [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bloody diarrhea [HPO term]
- Colonic atresia [HPO term]
- Congenital onset [HPO term]
- Congenital pulmonary airway malformation [HPO term]
- Death in childhood [HPO term]
- Death in infancy [HPO term]
- Decreased circulating antibody level [HPO term]
- Duodenal atresia [HPO term]
- Enamel hypoplasia [HPO term]
- Enterocolitis [HPO term]
- Hematochezia [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the thymus [HPO term]
- Ileal atresia [HPO term]
- Impaired lymphocyte transformation with phytohemagglutinin [HPO term]
- Interface hepatitis [HPO term]
- Intestinal atresia [HPO term]
- Intestinal malrotation [HPO term]
- Intestinal obstruction [HPO term]
- Intrauterine growth retardation [HPO term]
- Jejunal atresia [HPO term]
- Leukocytosis [HPO term]
- Lymphopenia [HPO term]
- Omphalocele [HPO term]
- Polyhydramnios [HPO term]
- Prominent forehead [HPO term]
- Psoriasiform dermatitis [HPO term]
- Rectal atresia [HPO term]
- Recurrent respiratory infections [HPO term]
- Severe combined immunodeficiency [HPO term]
- T-cell lymphoma [HPO term]
- Thrombocytosis [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Combined immunodeficiency-enteropathy spectrum [ORDO Disease]
- Multiple intestinal atresia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Gastrointestinal Defects And Immunodeficiency Syndrome [NCIt concept]
- Gastrointestinal Defects and Immunodeficiency Syndrome [NCIt concept]
- Multiple gastrointestinal atresias [MedDRA Preferred Term]
- Multiple gastrointestinal atresias [MedDRA LLT]
- Multiple gastrointestinal atresias (disorder) [SNOMED CT concept]
- Multiple intestinal atresia [ORDO Disease]
- intestinal atresia, multiple [MeSH Supplementary Concept]
- intestinal atresia, multiple [MeSH concept]
- multiple gastrointestinal atresias [SNOMED Notion]
- multiple intestinal atresia [DO Concept]

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