Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome | |
| fr | Syndrome de diabète néonatal-hypothyroïdie congénitale-glaucome congénital-fibrose hépatique-polykystose rénale | |
| de | Neonataler Diabetes-kongenitale Hypothyreose-kongenitales Glaukom-Leberfibrose-polyzystische Nieren-Syndrom | Diabetes mellitus des Neugeborenen und angeborene Hypothyreose |
| es | Síndrome de diabetes neonatal-hipotiroidismo congénito-glaucoma congénito-fibrosis hepática-riñones poliquísticos | |
| it | Sindrome diabete neonatale-ipotiroidismo congenito-glaucoma congenito-fibrosi epatica-rene policistico | |
| nl | Neonatale diabetes - congenitale hypothyreoïdie - congenitaal glaucoom - hepatische fibrose - polycystische nieren | |
| pt | Síndrome de diabetes neonatal-hipotiroidismo congénito-glaucoma congénito-fibrose hepática-rins poliquísticos | |
| pl | Cukrzyca noworodkowa - wrodzona niedoczynność tarczycy - jaskra wrodzona - zwłóknienie wątroby - wielotorbielowatość nerek | |
| cs | Syndrom zahrnující neonatální diabetes, vrozený hypothyroidismus, vrozený glaukom, jaterní fibrózu a polycystické ledviny | |
| uk | Синдром неонатального діабету-вродженого гіпотиреозу-вродженої глаукоми-фіброзу печінки-полікістозу нирок | |
| zh | 新生儿糖尿病-先天性甲状腺功能低下-先天性青光眼-肝纤维化-多囊肾综合征 | |
| tr | Yenidoğan diyabeti-doğumsal hipotiroidi-doğumsal glokom-hepatik fibroz-polikistik böbrek sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610199 | E | validated | |
| ICD-10 | P70.2 | NTBT | attributed | validated |
| ICD-11 | GB8Y | NTBT | index | validated |
| MONDO | 0012436 | E | validated | |
| UMLS | C4510367 | 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 (1):
- ORPHA:93587Genetic cystic renal disease
rare genetic diseases; rare renal diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GLIS3 | Disease-causing germline mutation(s) in | Assessed | HGNC:28510 | ENSG00000107249 | 610192 | 9p24.2 | GLIS family zinc finger 3 | 16715098[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 12966531[PMID]_16715098[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12966531[PMID]_16715098[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/79118
- This record as JSON: /data/d/79118.json