Tricho-hepato-enteric syndrome
| Tricho-hepato-enteric syndrome | |
|---|---|
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| Typical facial abnormalities with prominent forehead and cheeks, broad nasal root and wide-spaced eyes. Abnormal hairs are woolly, easily removed and poorly pigmented. | |
| Classification and external resources | |
| OMIM | 222470 |
Tricho-hepato-enteric syndrome (THE), also known as syndromic or phenotypic diarrhea, is an extremely rare congenital bowel disorder which manifests itself as intractable diarrhea in infants with intrauterine growth retardation, hair and facial abnormalities. Many also have liver disease and abnormalities of the immune system. The associated malabsorption leads to malnutrition and failure to thrive.
It is thought to be a genetic disorder with an autosomal recessive inheritance pattern, although responsible genes have not been found and the exact cause remains unknown. Prognosis is poor; many patients die before the age of 5 (mainly from infections or cirrhosis), although most patients nowadays survive with intravenous feeding (parenteral nutrition).
It is now recognized that the following conditions constitute one and the same disease:intractable diarrhea of infancy with facial dysmorphism, trichorrhexis nodosa and cirrhosis, neonatal hemochromatosis phenotype with intractable diarrhea and hair abnormalities, and intractable infant diarrhea associated with phenotypic abnormalities and immune deficiency.
The syndrome appears to be due to mutations in the gene tetratricopeptide repeat domain 37 (TTC37) which encodes the protein Thespin. This gene is expressed is in the adrenal gland, amniotic fluid, bladder, blood, bone, bone marrow, brain, cervix, connective tissue, ear, epididymis, eye, heart, intestine, kidney, liver, lung, lymph nodes, mammary glands, mouth, muscle, nerve, oesophagus, ovary, pancreas, pharynx, placenta, prostate, pituitary gland, salivary gland, testis, thyroid, tonsil, thymus, trachea, skin, uterus, spleen, spinal cord, stomach and vascular tissue. It is also expressed in ascites and various embryonic tissues. It is expressed at high level in the intestine, lung, lymph nodes, pituitary and vascular tissues. This gene is also known as KIAA0372, MGC32587 and TPR repeat protein 37.
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