TRICHOHEPATOENTERIC SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: DIARRHEA, FATAL INFANTILE, WITH TRICHORRHEXIS NODOSA
THE SYNDROME
DIARRHEA, SYNDROMIC
THES1
Number of Symptoms 56
OrphanetNr:
OMIM Id: 222470
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:0004734) Renal cortical microcysts 10 / 7739
2
(HPO:0000586) Shallow orbits 23 / 7739
3
(HPO:0000316) Hypertelorism 644 / 7739
4
(HPO:0000494) Downslanted palpebral fissures 328 / 7739
5
(HPO:0000520) Proptosis 192 / 7739
6
(HPO:0009891) Underdeveloped supraorbital ridges 36 / 7739
7
(HPO:0000463) Anteverted nares 305 / 7739
8
(HPO:0000343) Long philtrum 262 / 7739
9
(HPO:0011220) Prominent forehead 137 / 7739
10
(HPO:0000193) Bifid uvula 66 / 7739
11
(HPO:0008551) Microtia 98 / 7739
12
(HPO:0000369) Low-set ears 372 / 7739
13
(HPO:0000377) Abnormality of the pinna 111 / 7739
14
(HPO:0100543) Cognitive impairment 230 / 7739
15
(HPO:0006267) Large placenta 3 / 7739
16
(HPO:0001561) Polyhydramnios 191 / 7739
17
(HPO:0001394) Cirrhosis 102 / 7739
18
(HPO:0011473) Villous atrophy 14 / 7739
19
(HPO:0002240) Hepatomegaly 467 / 7739
20
(HPO:0001518) Small for gestational age 107 / 7739
21
(HPO:0001508) Failure to thrive 454 / 7739
22
(HPO:0001511) Intrauterine growth retardation 358 / 7739
23
(HPO:0002212) Curly hair 21 / 7739
24
(HPO:0008070) Sparse hair 94 / 7739
25
(HPO:0002224) Woolly hair 26 / 7739
26
(HPO:0002299) Brittle hair 52 / 7739
27
(HPO:0009886) Trichorrhexis nodosa 12 / 7739
28
(HPO:0004971) Pulmonary artery hypoplasia 15 / 7739
29
(HPO:0001636) Tetralogy of Fallot 104 / 7739
30
(HPO:0004415) Pulmonary artery stenosis 25 / 7739
31
(HPO:0001659) Aortic regurgitation 36 / 7739
32
(HPO:0001642) Pulmonic stenosis 89 / 7739
33
(HPO:0001629) Ventricular septal defect 316 / 7739
34
(HPO:0001894) Thrombocytosis 16 / 7739
35
(HPO:0011877) Increased mean platelet volume 9 / 7739
36
(HPO:0003073) Hypoalbuminemia 40 / 7739
37
(OMIM) Small mouth: Large mouth 1 / 7739
38
(OMIM) Square forehead 4 / 7739
39
(OMIM) Increased serum methionine 2 / 7739
40
(OMIM) Galactosuria without galactosemia 1 / 7739
41
(OMIM) Abnormal serum liver enzyme levels 1 / 7739
42
(OMIM) Progressive liver failure 4 / 7739
43
(OMIM) Decreased height 2 / 7739
44
(OMIM) Increased iron in hepatocytes 1 / 7739
45
(OMIM) Elevated ferritin 1 / 7739
46
(OMIM) Defective antigen-specific skin response 1 / 7739
47
(MedDRA:10023129) Jaundice cholestatic 3 / 7739
48
(OMIM) Neonatal hemochromatosis 1 / 7739
49
(OMIM) Hypermethioninemia, progressive 1 / 7739
50
(OMIM) Islet cell hyperplasia 2 / 7739
51
(OMIM) Liver fibrosis with nodular regeneration, cholestasis, ductular proliferation, and iron deposition 1 / 7739
52
(OMIM) Prominent cheeks 4 / 7739
53
(OMIM) Diarrhea, secretory, severe 1 / 7739
54
(OMIM) Defective antibody response 1 / 7739
55
(OMIM) Broad flat nose 4 / 7739
56
(OMIM) Decreased transferrin Increased serum iron 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Although the spectrum of phenotypic expression in trichohepatoenteric syndrome (THES) is broad, the characteristic features include intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhea in infancy requiring total parenteral nutrition, and immunodepression. Hepatic involvement contributes to the ...
Clinical Description OMIM Stankler et al. (1982) reported a seemingly 'new,' presumably autosomal recessive disorder in a sister and brother who died at 33 and 87 days of age, respectively, with severe unexplained diarrhea. Both were of low birth weight for ...
Molecular genetics OMIM In 12 children from 11 unrelated families with trichohepatoenteric syndrome mapping to chromosome 5q14.3-q21.2, Hartley et al. (2010) identified homozygosity or compound heterozygosity for 9 different mutations in the candidate gene TTC37 (see, e.g., 614589.0001-614589.0005). All mutations segregated ...