Transient infantile hypertriglyceridemia and hepatosteatosis
Synonyms: Transient infantile hypertriglyceridemia and fatty liver
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Transient infantile hypertriglyceridemia and hepatosteatosis is a rare, genetic, hepatic disease characterized by massive hepatomegaly, moderate to severe, transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis), manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Transient infantile hypertriglyceridemia and hepatosteatosis | Transient infantile hypertriglyceridemia and fatty liver |
| fr | Hypertriglycéridémie transitoire et stéatose hépatique du nourrisson | |
| de | Transiente infantile Hypertriglyceridämie und Hepatosteatose | Hypertriglyceridämie, infantile regressive - Fettleber |
| es | Hipertrigliceridemia y esteatosis hepática infantil transitoria | Hipertrigliceridemia e hígado graso regresivos infantil |
| it | Ipertrigliceridemia neonatale transitoria con steatosi epatica | Ipertrigliceridemia regressiva infantile e fegato grasso · Ipertrigliceridemia transitoria e fegato grasso nel neonato |
| nl | Transiënte infantiele hypertriglyceridemie en hepatosteatose | Voorbijgaande infantiele hypertriglyceridemie en leververvetting |
| pt | Hipertrigliceridemia e esteatose hepática da infância transitórias | Hipertrigliceridémia regressiva e fígado gordo da infância transitórios |
| pl | Przejściowa hipertriglicerydemia dziecięca i stłuszczenie wątroby | = en |
| cs | Přechodná infantilní hypertriglyceridémie a hepatosteatóza | Přechodná infantilní hypertriglyceridémie a steatóza jater |
| uk | Транзиторна дитяча гіпертригліцеридемія та гепатостеатоз | Транзиторна дитяча гіпертригліцеридемія та жирова дистрофія печінки |
| zh | 一过性婴儿型高甘油三酯血症 | 短暂性婴儿型高甘油三酯血症伴脂肪肝 |
| tr | Geçici infantil hipertrigliseridemi ve hepatosteatoz | Geçici infantil hipertrigliseridemi ve yağlı karaciğer |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614480 | E | validated | |
| OMIM | 619324 | BTNT | validated | |
| ICD-10 | K76.0 | NTBT | attributed | not yet validated |
| ICD-11 | DB99.Y | NTBT | attributed | validated |
| MONDO | 0013771 | E | validated | |
| UMLS | C4751115 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:156604Genetic parenchymatous liver disease
rare genetic diseases - ORPHA:101939Rare parenchymal liver disease
rare hepatic diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CREB3L3 | Disease-causing germline mutation(s) in | Assessed | HGNC:18855 | ENSG00000060566 | 611998 | 19p13.3 | cAMP responsive element binding protein 3 like 3 | 26427795[PMID] |
| GPD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4455 | ENSG00000167588 | 138420 | 12q13.12 | glycerol-3-phosphate dehydrogenase 1 | 22226083[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 22226083[PMID]_24549054[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22226083[PMID]_24549054[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/300293
- This record as JSON: /data/d/300293.json