Growth delay-intellectual disability-hepatopathy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Growth delay-intellectual disability-hepatopathy syndrome | |
| fr | Syndrome de retard de croissance-déficience intellectuelle-hépatopathie | |
| de | Wachstumsverzögerung-Intelligenzminderung-Hepatopathie-Syndrom | |
| es | Síndrome de retraso del crecimiento-discapacidad intelectual-hepatopatía | |
| it | Sindrome da ritardo di crescita-disabilità intellettiva-epatopatia | |
| nl | Groeiachterstand - intellectuele achterstand - hepatopathie-syndroom | |
| pt | Síndrome de atraso do crescimento-perturbação do desenvolvimento intelectual-hepatopatia | |
| pl | Zespół opóźnionego wzrastania, niepełnosprawności intelektualnej oraz hepatopatii | |
| cs | Syndrom zahrnující opoždění vývoje, mentální retardaci a hepatopatii | |
| uk | Синдром затримки росту-інтелектуальної недостатності-гепатопатії | |
| zh | 生长延迟-智力障碍-肝病综合征 | |
| tr | Büyüme geriliği-zihinsel yetersizlik-hepatopati sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617093 | E | validated | |
| ICD-10 | K76.8 | NTBT | attributed | validated |
| MONDO | 0014911 | E | validated | |
| UMLS | C5568558 | 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 (3):
- ORPHA:156604Genetic parenchymatous liver disease
rare genetic diseases - ORPHA:101939Rare parenchymal liver disease
rare hepatic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IARS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:5330 | ENSG00000196305 | 600709 | 9q22.31 | isoleucyl-tRNA synthetase 1 | 27426735[PMID]_29052218[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 29052218[PMID]_30431579[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29052218[PMID]_30431579[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
35 annotations · validated 2020-08-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031831 | Decreased serum zinc | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| Frequent (79-30%) | ||
| HP:0001344 | Absent speech | |
| HP:0001396 | Cholestasis | |
| HP:0011968 | Feeding difficulties | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0001397 | Hepatic steatosis | |
| HP:0001252 | Hypotonia | |
| HP:0002719 | Recurrent infections | |
| Occasional (29-5%) | ||
| HP:0100511 | Abnormality of vitamin D metabolism | |
| HP:0000729 | Autistic behavior | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0010648 | Dermal translucency | |
| HP:0000819 | Diabetes mellitus | |
| HP:0006129 | Drumstick terminal phalanges | |
| HP:0000081 | Duplicated collecting system | |
| HP:0100633 | Esophagitis | |
| HP:0000293 | Full cheeks | |
| HP:0001399 | Hepatic failure | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0000126 | Hydronephrosis | |
| HP:0000974 | Hyperextensible skin | |
| HP:0001382 | Joint hypermobility | |
| HP:0000252 | Microcephaly | |
| HP:0011342 | Mild global developmental delay | |
| HP:0001562 | Oligohydramnios | |
| HP:0000311 | Round face | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001027 | Soft, doughy skin | |
| HP:0001257 | Spasticity | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 29052218[PMID]_27426735[PMID]_27891590[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/541423
- This record as JSON: /data/d/541423.json