Gastroenterology · Gastroenterology / Pediatric GI disease
Trichohepatoenteric syndrome
also: Phenotypic diarrhea; Syndromic diarrhea
Intractable diarrhea with woolly hair and liver disease.
- Specialty
- Gastroenterology
- Subspecialty
- Gastroenterology / Pediatric GI disease
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, neonatal onset
- Gene(s) involved
- SKIV2L, TTC37
- Alternative names & eponyms
- Phenotypic diarrhea; Syndromic diarrhea
Etiology & mechanism
TTC37 or SKIV2L mutation affecting the SKI complex.
Gene(s) involved (2)
Symptoms & signs (6)
In plain terms, someone with Trichohepatoenteric syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Hoyeraal–Hreidarsson syndrome
immunodeficiency, intrauterine growth restriction
1 shared
Ataxia-telangiectasia
immunodeficiency
1 shared
Bloom syndrome
immunodeficiency
1 shared
Cartilage–hair hypoplasia syndrome
immunodeficiency
1 shared
Carvajal syndrome
woolly hair
1 shared
Donohue syndrome
intrauterine growth restriction
1 shared
Dyskeratosis congenita
liver disease
1 shared
Fetal valproate syndrome
facial dysmorphism
1 shared
Folate malabsorption syndrome
immunodeficiency
1 shared
Griscelli syndrome
immunodeficiency
Shares genes with
None.
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