Growth retardation-mild developmental delay-chronic hepatitis syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Growth retardation-mild developmental delay-chronic hepatitis syndrome is a rare, genetic, parenchymatous liver disease characterized by pre- and postnatal growth retardation, mild global developmental delay, chronic hepatitis with hepatosplenomegaly, Hashimoto thyroiditis, thrombocytopenia, anemia, and B-precursor acute lymphoblastic leukemia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Growth retardation-mild developmental delay-chronic hepatitis syndrome | |
| fr | Syndrome de retard de croissance-retard de développement modéré-hépatite chronique | |
| de | Wachstumsstörung-milde Entwicklungsverzögerung-chronische Hepatitis-Syndrom | |
| es | Síndrome de retraso del crecimiento-retraso del desarrollo leve-hepatitis crónica | |
| it | Sindrome da ritardo della crescita, lieve ritardo dello sviluppo, epatite cronica | |
| nl | Groeiretardatie - milde ontwikkelingsachterstand - chronische hepatitis-syndroom | |
| pt | Síndrome de atraso de crescimento-atraso do desenvolvimento ligeira-hepatite crónica | |
| pl | Zespół opóźnienie wzrostu-łagodne opóźnienie rozwoju-przewlekłe zapalenie wątroby | |
| cs | Syndrom zahrnující růstovou retardaci, mírné opoždění vývoje a chronickou hepatitidu | |
| uk | Синдром затримки росту-легкої затримки розвитку-хронічного гепатиту | |
| zh | 生长滞后-轻度发育迟缓-慢性肝炎综合征 | |
| tr | Büyüme geriliği-hafif gelişme geriliği-kronik hepatit sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | K73.8 | NTBT | attributed | validated |
| ICD-11 | DB97.Y | NTBT | attributed | validated |
| MONDO | 0018317 | E | validated | |
| UMLS | C4751595 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SH2B3 | Disease-causing germline mutation(s) in | Assessed | HGNC:29605 | ENSG00000111252 | 605093 | 12q24.12 | SH2B adaptor protein 3 | 23908464[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 23908464[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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/391366
- This record as JSON: /data/d/391366.json