Syndromic diarrhea

General Information (adopted from Orphanet):

Synonyms, Signs: SD/THE
Tricho-hepato-enteric syndrome
Phenotypic diarrhea
Syndromic diarrhea/Tricho-hepato-enteric syndrome
Syndromatic diarrhea
Number of Symptoms 51
OrphanetNr: 84064
OMIM Id: 222470
614602
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic intractable diarrhea of infancy
 -Rare genetic disease
Genetic parenchymatous liver disease
 -Rare genetic disease
Intractable diarrhea of infancy
 -Rare gastroenterologic disease
Rare parenchymatous liver disease
 -Rare hepatic disease

Symptom Information: Sort by abundance 

1
 (HPO:0004734) Renal cortical microcysts 10 / 7739
2
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
3
 (HPO:0009891) Underdeveloped supraorbital ridges 36 / 7739
4
 (HPO:0000445) Wide nose 190 / 7739
5
 (HPO:0002007) Frontal bossing 366 / 7739
6
 (HPO:0000316) Hypertelorism 644 / 7739
7
 (HPO:0000457) Depressed nasal ridge 85 / 7739
8
 (HPO:0000160) Narrow mouth 188 / 7739
9
 (HPO:0000154) Wide mouth 137 / 7739
10
 (HPO:0000193) Bifid uvula 66 / 7739
11
 (HPO:0000343) Long philtrum 262 / 7739
12
 (HPO:0000520) Proptosis 192 / 7739
13
 (HPO:0000463) Anteverted nares 305 / 7739
14
 (HPO:0011220) Prominent forehead 137 / 7739
15
 (HPO:0000369) Low-set ears 372 / 7739
16
 (HPO:0008551) Microtia 98 / 7739
17
 (HPO:0100543) Cognitive impairment 230 / 7739
18
 (HPO:0006267) Large placenta 3 / 7739
19
 (HPO:0001561) Polyhydramnios 191 / 7739
20
 (HPO:0002041) Intractable diarrhea 4 / 7739
21
 (HPO:0001396) Cholestasis 136 / 7739
22
 (HPO:0002014) Diarrhea 225 / 7739
23
 (HPO:0001399) Hepatic failure 80 / 7739
24
 (HPO:0001394) Cirrhosis 102 / 7739
25
 (HPO:0001395) Hepatic fibrosis 67 / 7739
26
 (HPO:0011473) Villous atrophy 14 / 7739
27
 (HPO:0002240) Hepatomegaly 467 / 7739
28
 (HPO:0000952) Jaundice 105 / 7739
29
 (HPO:0001732) Abnormality of the pancreas 5 / 7739
30
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
31
 (HPO:0004322) Short stature 1232 / 7739
32
 (HPO:0001508) Failure to thrive 454 / 7739
33
 (HPO:0001518) Small for gestational age 107 / 7739
34
 (HPO:0008070) Sparse hair 94 / 7739
35
 (HPO:0009886) Trichorrhexis nodosa 12 / 7739
36
 (HPO:0002213) Fine hair 77 / 7739
37
 (HPO:0002224) Woolly hair 26 / 7739
38
 (HPO:0002212) Curly hair 21 / 7739
39
 (HPO:0002299) Brittle hair 52 / 7739
40
 (HPO:0001642) Pulmonic stenosis rare [HPO:skoehler] 89 / 7739
41
 (HPO:0001636) Tetralogy of Fallot rare [HPO:skoehler] 104 / 7739
42
 (HPO:0001629) Ventricular septal defect rare [HPO:skoehler] 316 / 7739
43
 (HPO:0001659) Aortic regurgitation rare [HPO:skoehler] 36 / 7739
44
 (HPO:0011877) Increased mean platelet volume rare [HPO:skoehler] 9 / 7739
45
 (HPO:0001894) Thrombocytosis rare [HPO:skoehler] 16 / 7739
46
 (HPO:0012023) Galactosuria 5 / 7739
47
 (HPO:0011031) Abnormality of iron homeostasis 16 / 7739
48
 (HPO:0003073) Hypoalbuminemia 40 / 7739
49
 (HPO:0003235) Hypermethioninemia 8 / 7739
50
 (HPO:0002715) Abnormality of the immune system 46 / 7739
51
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: