TRICHOHEPATOENTERIC SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: THES2
Number of Symptoms 30
OrphanetNr:
OMIM Id: 614602
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000316) Hypertelorism 644 / 7739
2
(HPO:0000445) Wide nose 190 / 7739
3
(HPO:0011220) Prominent forehead 137 / 7739
4
(HPO:0012115) Hepatitis 24 / 7739
5
(HPO:0011473) Villous atrophy 14 / 7739
6
(HPO:0001394) Cirrhosis 102 / 7739
7
(HPO:0002240) Hepatomegaly 467 / 7739
8
(HPO:0002014) Diarrhea 225 / 7739
9
(HPO:0002583) Colitis 9 / 7739
10
(HPO:0001518) Small for gestational age 107 / 7739
11
(HPO:0001511) Intrauterine growth retardation 358 / 7739
12
(HPO:0001508) Failure to thrive 454 / 7739
13
(HPO:0002224) Woolly hair 26 / 7739
14
(HPO:0009886) Trichorrhexis nodosa 12 / 7739
15
(HPO:0002299) Brittle hair 52 / 7739
16
(HPO:0002235) Pili canaliculi 4 / 7739
17
(HPO:0008070) Sparse hair 94 / 7739
18
(HPO:0001627) Abnormal heart morphology 19 / 7739
19
(HPO:0002721) Immunodeficiency 97 / 7739
20
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
21
(OMIM) Poorly pigmented hair 1 / 7739
22
(OMIM) Hepatitis, chronic, nonspecific 1 / 7739
23
(OMIM) Iron deposition 3 / 7739
24
(OMIM) Prominent cheeks 4 / 7739
25
(OMIM) Decreased height 2 / 7739
26
(OMIM) Diarrhea, severe and intractable 1 / 7739
27
(OMIM) Broad flat nose 4 / 7739
28
(OMIM) Square forehead 4 / 7739
29
(HPO:0030056) Uncombable hair 3 / 7739
30
(OMIM) Decreased serum iron 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012).

- Genetic Heterogeneity of Trichohepatoenteric Syndrome

...

Clinical Description OMIM Egritas et al. (2009) reported a 4.5-year-old Turkish girl who was small for gestational age at preterm birth (32 weeks) and developed intractable mucoid and occasionally bloody diarrhea within the first 3 months of life. Examination revealed low ...
Molecular genetics OMIM In 6 unrelated patients with typical trichohepatoenteric syndrome, Fabre et al. (2012) sequenced the candidate gene SKIV2L (600478) and identified homozygosity or compound heterozygosity for 8 different mutations, respectively, in all patients (see, e.g., 600478.0001-600478.0003). All of the ...