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.
Examples of atresia include:
*Aural atresia, a congenital deformity where the ear canal is underdeveloped.
* Biliary atresia, a condition i ...
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 immunocompromisation, 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 a ...
.
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.
Function
TPR domain-containing proteins, such as TTC7A, have diverse functions in cell cycle control, protein transport, phosphate turnove ...
gene.
[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 (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