Familial multiple intestinal atresia (FMIA) or familial intestinal polyatresia syndrome (FIPA) is an inherited disorder where
atresia
Atresia is a condition in which an orifice or passage in the body is (usually abnormally) closed or absent.
Types Anotia
Anotia is characterized by the complete absence of the ear and is extremely rare. This condition may affect one or both ...
occurs at multiple locations throughout the small and large intestines. It presents at birth and the prognosis is very poor with almost all those diagnosed with this condition dying with one month. It may be associated with combined
immunodeficiency
Immunodeficiency, also known as immunocompromise, is a state in which the immune system's ability to fight infectious diseases and cancer is compromised or entirely absent. Most cases are acquired ("secondary") due to extrinsic factors that aff ...
.
Presentation
In this disorder lesions can occur anywhere from the stomach to the anus. The clinical presentation depends on the location of the lesions(s).
Genetics
The underlying lesion in this condition appears to be a mutation in the
TTC7A
Tetratricopeptide repeat domain 7A (TTC7A) is a protein that in humans is encoded by the ''TTC7A'' gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleo ...
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
[Samuels ME, Majewski J, Alirezaie N, Fernandez I, Casals F, Patey N, Decaluwe H, Gosselin I, Haddad E, Hodgkinson A, Idaghdour Y, Marchand V, Michaud JL, Rodrigue, M-A, Desjardins S, Dubois S, Le Deist F, Awadalla P, Raymond V, Maranda B Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. J Med Genet 50: 324-329] This gene is located on the short arm of
chromosome 2
Chromosome 2 is one of the twenty-three pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 2 is the second-largest human chromosome, spanning more than 242 million base pairs and representing almost ei ...
(2p16).
Diagnosis
Treatment
History
This disorder was first described in 1971.
[Mishalany HG, Der Kaloustian VM (1971) Familial multiple-level intestinal atresia: report of two siblings. J Pediat 79: 124]
References
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Genetic diseases and disorders