NOCARH syndrome
Synonyms: Neonatal-onset cytopenia-autoinflammation-rash episodes of HLH syndrome · Neonatal-onset cytopenia-autoinflammation-rash episodes of hemophagocytic lymphohistiocytosis syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare unclassified autoinflammatory syndrome characterized by neonatal onset pancytopenia, type I interferon-dependent multisystemic autoinflammation, painful rash with variable frequencies and hemophagocytic lymphohistiocytosis. Failure to thrive, fever, gastrointestinal/upper respiratory tract infections, enterocolitis, hepatosplenomegaly, myelofibrosis and neurodevelopmental delay are other common clinical features. Facial dysmorphism including macrocephaly, mild frontal bossing, sparse hair, mild hypertelorism, depressed nasal bridge can be present.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | NOCARH syndrome | Neonatal-onset cytopenia-autoinflammation-rash episodes of HLH syndrome · Neonatal-onset cytopenia-autoinflammation-rash episodes of hemophagocytic lymphohistiocytosis syndrome |
| fr | Syndrome NOCARH | Syndrome de cytopénie-autoinflammation-éruption cutanée-épisodes HLH à début néonatal · Syndrome de cytopénie-autoinflammation-éruption cutanée-épisodes de hémophagocytose lymphohistiocytaire à début néonatal · Syndrome de cytopénie-autoinflammation-éruption cutanée-épisodes de lymphohistiocytose hémophagocytaire à début néonatal |
| de | NOCARH-Syndrom | Autoinflammation-Zytopenie-Gesichtsdysmorphie-Syndrom des Neugeborenen · Neonatales Auftreten von Panzytopenie mit Autoinflammation und Rash-Episoden des HLH-Syndroms |
| es | Síndrome NOCARH | Síndrome de citopenia-autoinflamación-erupción-episodios de LHH de inicio neonatal · Síndrome de citopenia-autoinflamación-erupción-episodios de linfohistiocitosis hemofagocítica de inicio neonatal |
| it | Sindrome di NOCARH | Sindrome citopenia ad esordio neonatale-autoinfiammazione-eruzione-episodi di HLH · Malattia autoinfiammatoria multisistemica grave ad esordio neonatale con aumento dellinterleuchina 18 · Sindrome citopenia a esordio neonatale-autoinfiammazione-eruzione-episodi di HLH · Sindrome citopenia a esordio neonatale-autoinfiammazione-eruzione-episodi di linfoistiocitosi emofagocitica |
| nl | NOCARH-syndroom | Neonataal optredend cytopenie - auto-inflammatie - episodes van huiduitslag van HLH-syndroom · Neonataal optredend cytopenie - auto-inflammatie - episodes van huiduitslag van hemofagocytaire lymfohistiocytose-syndroom |
| pt | Síndrome NOCARH | Síndrome de citopenia com início neonatal-rash autoinflamatório episódios de linfohistiocitose hemofagocítica · Síndrome de citopenia com início neonatal-rash autoinflamatório-episódios de HLH |
| pl | Ciężka wieloukładowa choroba autozapalna z podwyższonym poziomem IL18 o początku w okresie noworodkowym | Zespół NOCARH |
| cs | Novorozenecké těžké multisystémové autoinflamatorní onemocnění se zvýšeným IL18 | = en |
| uk | Синдром NOCARH | Неонатальна цитопенія - аутозапалення - висип - епізоди синдрому гемофагоцитарного лімфогістіоцитозу · Неонатальна цитопенія - аутозапалення - епізоди висипу - синдром ГЛГ |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D76.1 | NTBT | attributed | validated |
| ICD-11 | 4A01.23 | NTBT | attributed | validated |
| MONDO | 0850065 | E | validated | |
| UMLS | C5925147 | 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 (6):
- ORPHA:290842Autoinflammatory syndrome with skin involvement
rare skin diseases - ORPHA:622720Genetic autoinflammatory syndrome with skin involvement
rare genetic diseases - ORPHA:664482Primary hemophagocytic lymphohistiocytosis without hypopigmentation
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:619238Rare hereditary autoinflammatory disease
rare genetic diseases - ORPHA:717871Rare systemic or rheumatologic disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:324936Unclassified autoinflammatory syndrome
rare systemic and rheumatological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CDC42 | Disease-causing germline mutation(s) in | Assessed | HGNC:1736 | ENSG00000070831 | 116952 | 1p36.12 | cell division cycle 42 | 31271789[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 31271789[PMID]_37741518[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 31271789[PMID]_37741518[PMID]_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/619363
- This record as JSON: /data/d/619363.json