Rare Pulmonology News
Advertisement
Disease Profile
Trichohepatoenteric syndrome
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 >
Age of onset
Infancy
ICD-10
-
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
Phenotypic diarrhea; SD/THE; Syndromatic diarrhea;
Categories
Congenital and Genetic Diseases; Digestive Diseases; Immune System Diseases;
Summary
Trichohepatoenteric
Symptoms
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
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 |
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 |
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 |
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 |
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 |
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
Diagnosis
After a clinical examination is found to be suggestive of trichohepatoenteric syndrome, a doctor may order
Treatment
It may also be necessary to treat the weakened
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnoses include all causes of chronic diarrhea, copper and iron deficiencies due to malnutrition, intestinal epithelial dysplasia, and microvillus inclusion disease.
Visit the Orphanet disease page for more information.
|
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
- McKusick VA and O’Neill MJF. Trichohepatoenteric syndrome 1; THES1. Online Mendelian Inheritance in Man; September 12, 2016; https://www.omim.org/entry/222470.
- 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.
- Trichohepatoenteric syndrome. Genetic Home Reference. March, 2014; https://ghr.nlm.nih.gov/condition/trichohepatoenteric-syndrome. Accessed 11/2/2015.
- 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.
Rare Pulmonology News