ORPHA:84064
Trichohepatoenteric syndrome
Synonyms: Phenotypic diarrhea · SD/THE · Syndromic diarrhea · Syndromic diarrhea/Tricho-hepato-enteric syndrome · Tricho-hepato-enteric syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare gastroenterologic disease manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Trichohepatoenteric syndrome | Phenotypic diarrhea · SD/THE · Syndromic diarrhea · Syndromic diarrhea/Tricho-hepato-enteric syndrome · Tricho-hepato-enteric syndrome |
| fr | Syndrome tricho-hépato-entérique | Diarrhée phénotypique · Diarrhée syndromique |
| de | Trichohepatoenterisches Syndrom | Phänotypische Diarrhoe · SD/THE · Syndromale Diarrhoe/Tricho-hepato-enterisches Syndrom · Syndromale Diarrhöe · THE-S |
| es | Síndrome tricohepatoentérico | Diarrea fenotípica · Diarrea sindrómica · Diarrea sindrómica/síndrome trico-hepato-entérico · SD/THE · Síndrome trico-hepato-entérico |
| it | Sindrome tricoepatoenterica | Diarrea fenotipica · SD/THE · Sindrome trico-epato-enterica · Sindrome trico-epato-enterica/diarrea sindromica · Diarrea sindromica |
| nl | Trichohepato-enteraal syndroom | Fenotypische diarree · SD/THE · Syndromale diarree · Syndromale diarree/Tricho-hepato-enteraal syndroom · Syndromale diarree/Tricho-hepato-enterisch syndroom · Tricho-hepato-enteraal syndroom · Tricho-hepato-enterisch syndroom · Trichohepato-enterisch syndroom |
| pt | Síndrome tricohepatoentérico | Diarreia sindromática/Síndrome tricohepatoentérico · Síndrome trico-hepato-entérico · Diarreia sindromática · SD/THE |
| pl | Zespół włosowo-wątrobowo-jelitowy | SD/THE · Biegunka syndromiczna/zespół włosowo-wątrobowo-jelitowy |
| cs | Syndromický průjem | SD/THE · Syndromická diarea/Trichohepatoenterický syndrom · Trichohepatoenterický syndrom · Průjem s abnormálním fenotypem |
| uk | Синдромна діарея | Фенотипова діарея · SD/THE · Синдромна діарея/трихо-гепато-ентеральний синдром · Трихогепатоентеральний синдром · Трихо-гепато-ентеральний синдром |
| zh | 综合征性腹泻 | 腹泻综合征/毛发-肝-肠综合征 |
| tr | Sendromik ishal | SD / THE · Fenotipik diyare · Trikohepatoenterik sendrom · Triko-hepato-enterik sendrom · Sendromik diyare/Triko-hepato-enterik sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 222470 | E | validated | |
| OMIM | 614602 | BTNT | validated | |
| ICD-10 | K52.8 | NTBT | attributed | validated |
| ICD-11 | DA90.0 | E | specific | validated |
| MONDO | 0009105 | E | validated | |
| MeSH | C565627 | E | validated | |
| UMLS | C1857276 | E | validated | |
| GARD | 5258 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:363300Genetic intractable diarrhea of infancy
rare genetic diseases - ORPHA:156604Genetic parenchymatous liver disease
rare genetic diseases - ORPHA:73014Intractable diarrhea of infancy
rare gastroenterological diseases; rare transplant-related disorders - ORPHA:717865Rare congenital/chronic/intractable diarrhea with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:101939Rare parenchymal liver disease
rare hepatic diseases - ORPHA:477647Type 1 interferonopathy
rare genetic diseases; rare systemic and rheumatological diseases - ORPHA:481671Type 1 interferonopathy of childhood
rare systemic or rheumatologic diseases of childhood
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SKIC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:10898 | ENSG00000204351 | 600478 | 6p21.33 | SKI2 subunit of superkiller complex | 22444670[PMID]_23302111[PMID] |
| SKIC3 | Disease-causing germline mutation(s) in | Assessed | HGNC:23639 | ENSG00000198677 | 614589 | 5q15 | SKI3 subunit of superkiller complex | 23302111[PMID]_20176027[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 116 cases | Worldwide | Case(s) | Validated | [EXPERT]_29527791[PMID]_29868001[PMID]_30397475[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_[EXPERT]_30397475[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.1 / 100 000 | France | Value and class | Validated | 23302111[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
52 annotations · validated 2019-10-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0002721 | Immunodeficiency | |
| HP:0002041 | Intractable diarrhea | |
| HP:0002224 | Woolly hair | |
| Frequent (79-30%) | ||
| HP:0011121 | Abnormal skin morphology | |
| HP:0001392 | Abnormality of the liver | |
| HP:0002299 | Brittle hair | |
| HP:0000337 | Broad forehead | |
| HP:0001394 | Cirrhosis | |
| HP:0025156 | Dependency on intravenous nutrition | |
| HP:0001263 | Global developmental delay | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0002240 | Hepatomegaly | |
| HP:0000316 | Hypertelorism | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0003139 | Panhypogammaglobulinemia | |
| HP:0011220 | Prominent forehead | |
| HP:0004322 | Short stature | |
| HP:0001518 | Small for gestational age | |
| HP:0009886 | Trichorrhexis nodosa | |
| HP:0030056 | Uncombable hair | |
| HP:0011473 | Villous atrophy | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0011031 | Abnormality of iron homeostasis | |
| HP:0000957 | Cafe-au-lait spot | |
| HP:0002583 | Colitis | |
| HP:0000958 | Dry skin | |
| HP:0005263 | Gastritis | |
| HP:0011877 | Increased mean platelet volume | |
| HP:0001888 | Lymphopenia | |
| HP:0002719 | Recurrent infections | |
| HP:0001894 | Thrombocytosis | |
| Very rare (<4-1%) | ||
| HP:0001659 | Aortic regurgitation | |
| HP:0001631 | Atrial septal defect | |
| HP:0001647 | Bicuspid aortic valve | |
| HP:0025085 | Bloody diarrhea | |
| HP:0007513 | Generalized hypopigmentation | |
| HP:0000501 | Glaucoma | |
| HP:0002884 | Hepatoblastoma | |
| HP:0000778 | Hypoplasia of the thymus | |
| HP:0000821 | Hypothyroidism | |
| HP:0000023 | Inguinal hernia | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0004969 | Peripheral pulmonary artery stenosis | |
| HP:0000113 | Polycystic kidney dysplasia | |
| HP:0000089 | Renal hypoplasia | |
| HP:0001744 | Splenomegaly | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 23302111[PMID]_29334452[PMID]_20176027[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/84064
- This record as JSON: /data/d/84064.json