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Disease Profile

Trichohepatoenteric syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

-

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Phenotypic diarrhea; SD/THE; Syndromatic diarrhea;

Categories

Congenital and Genetic Diseases; Digestive Diseases; Immune System Diseases;

Summary

Trichohepatoenteric syndrome is a condition that affects the hair, liver, and intestines. The condition is characterized by chronic diarrhea that begins during the first six months after birth. Continued diarrhea can lead to an inability to gain weight (failure to thrive). Trichohepatoenteric syndrome also causes liver disease such as cirrhosis (chronic liver damage) or hepatomegaly (swollen liver).[1] Affected individuals may have wooly or patchy hair. Tirchohepatoenteric syndrome is caused by mutations in TTC37or SKIV2L and is inherited in an autosomal recessive manner. The condition can be diagnosed by clinical examination and confirmed by genetic testing.[2]Treatment options include nutrition through an IV (parenteral nutrition).[3]

Symptoms

Trichohepatoenteric syndrome is named after the three main body systems that it affects: hair (tricho), liver (hepato), and intestines (enteric). The hair of people who have trichohepatoenteric syndrome may be wooly, patchy, or brittle. The hair may easily fall out due to each strand of hair having many thickened points surrounded by weak points (trichorrhexis nodosa).[3] Trichohepatoenteric syndrome is also characterized by liver disease such as cirrhosis (chronic liver damage) or hepatomegaly (swollen liver). The intestinal problems associated with the condition are most characteristic of the disease. These problems include chronic diarrhea beginning in the first 6 months of life.[2]

Other symptoms associated with trichohepatoenteric syndrome include characteristic facial features such as widely spaced eyes, a broad nose, and a wide forehead.[3] People with trichohepatoenteric syndrome may also have a weakened immune system that makes it more difficult to fight infection. Some people may have skin abnormalities such as lightly-colored spots (café-au-lait macules), dry skin (xerosis), or skin that has a rubbery texture.[2] Less commonly, some people with trichohepatoenteric syndrome have been born with heart abnormalities. About half of people affected by trichohepatoenteric syndrome have intellectual disability

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal facial shape
Unusual facial appearance
0001999
Immunodeficiency
Decreased immune function
0002721
Intractable diarrhea
0002041
Woolly hair
Kinked hair
0002224
30%-79% of people have these symptoms
Brittle hair
0002299
Broad forehead
Increased width of the forehead
Wide forehead

[ more ]

0000337
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394
Dependency on intravenous nutrition
0025156
Global developmental delay
0001263
Hepatic fibrosis
0001395
Hepatomegaly
Enlarged liver
0002240
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypopigmentation of hair
Loss of hair color
0005599
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation

[ more ]

0001256
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Panhypogammaglobulinemia
0003139
Prominent forehead
Pronounced forehead
Protruding forehead

[ more ]

0011220
Short stature
Decreased body height
Small stature

[ more ]

0004322
Small for gestational age
Birth weight less than 10th percentile
Low birth weight

[ more ]

0001518
Trichorrhexis nodosa
0009886
Uncombable hair
0030056
Villous atrophy
0011473
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge

[ more ]

0000431
5%-29% of people have these symptoms
Abnormality of iron homeostasis
0011031
Cafe-au-lait spot
0000957
Colitis
0002583
Dry skin
0000958
Gastritis
Stomach inflammation
0005263
Increased mean platelet volume
Large platelets
0011877
Lymphopenia
Decreased blood lymphocyte number
Low lymphocyte number

[ more ]

0001888
Recurrent infections
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection

[ more ]

0002719
Thrombocytosis
Increased number of platelets in blood
0001894
1%-4% of people have these symptoms
Aortic regurgitation
0001659
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers

[ more ]

0001631
Bicuspid aortic valve
Aortic valve has two leaflets rather than three
0001647
Bloody diarrhea
Bloody bowel movement
Bloody diarrhoea

[ more ]

0025085
Generalized hypopigmentation
Fair skin
Pale pigmentation

[ more ]

0007513
Glaucoma
0000501
Hepatoblastoma
0002884
Hypoplasia of the thymus
Small thymus
0000778
Hypothyroidism
Underactive thyroid
0000821
Inguinal hernia
0000023
Patent ductus arteriosus
0001643
Peripheral pulmonary artery stenosis
Narrowing of peripheral lung artery
0004969
Polycystic kidney dysplasia
0000113
Renal hypoplasia
Small kidneys
Underdeveloped kidneys

[ more ]

0000089
Splenomegaly
Increased spleen size
0001744
Tetralogy of Fallot
0001636
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629

Cause

Trichohepatoenteric syndrome is caused by mutations (changes) in one of two genes: TTC37or SKIV2L. These genes are known to provide instructions to the body to help get rid of excess mRNA. mRNA allows the body to turn the molecular genetic code (DNA) into proteins that have specific functions in the body. It is not known exactly how mutations in TTC37 or SKIV2L cause the symptoms of trichohepatoenteric syndrome.[3] 

Diagnosis

Trichohepatoenteric syndrome is diagnosed after an examination by a doctor shows symptoms suggestive of the condition. The exam might include a physical examination as well as a biopsy of the small intestine to search for other causes of the chronic diarrhea. A small intestine biopsy of people who have trichohepatoenteric syndrome may show some degeneration (atrophy) of the villi of the small intestine.[2]

After a clinical examination is found to be suggestive of trichohepatoenteric syndrome, a doctor may order genetic testing to confirm the diagnosis. Genetic testing would look for mutations in both copies of TTC37 or SKIV2L

Treatment

Trichohepatoenteric syndrome is treated symptomatically, meaning it is focused on treating the symptoms of the disease. Treating the chronic diarrhea is often the biggest concern, as chronic diarrhea can prevent people with trichohepatoenteric syndrome from getting enough nutrients. In most cases, treatment requires nutrition through an intravenous line, or IV. This is also called parenteral nutrition.[1] If the liver disease associated with trichohepatoenteric syndrome permanently damages the liver, a partial or complete liver transplant may be required.[2]

It may also be necessary to treat the weakened immune system associated with trichohepatoenteric syndrome. People with the condition may need treatment such as immunoglobulin infusions to boost the immune system.[4]

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Trichohepatoenteric syndrome. This website is maintained by the National Library of Medicine.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

References

  1. McKusick VA and O’Neill MJF. Trichohepatoenteric syndrome 1; THES1. Online Mendelian Inheritance in Man; September 12, 2016; https://www.omim.org/entry/222470.
  2. Syndromic diarrhea. Orphanet. April, 2013; https://www.orpha.net/consor4.01/www/cgi-bin/Disease_Search.php?lng=EN&data_id=11605. Accessed 11/2/2015.
  3. Trichohepatoenteric syndrome. Genetic Home Reference. March, 2014; https://ghr.nlm.nih.gov/condition/trichohepatoenteric-syndrome. Accessed 11/2/2015.
  4. Rider NL, Boisson B, Jyonouchi S, Hanson EP, Rosenzweig SD, Cassanova JL, and Orange JS. Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome. Frontiers in Pediatrics. January 30, 2015; 3(2):https://www.ncbi.nlm.nih.gov/pubmed/25688341.

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