Fibrosis-neurodegeneration-cerebral angiomatosis syndrome
Synonyms: FINCA · Interstitial lung fibrosis-neurodegeneration-cerebral angiomatosis syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare interstitial lung disease characterized by early-onset, severe, progressive lung disease manifesting by respiratory distress, neurological symptoms including axial hypotonia, developmental delay, irritability, dystonia, poor visual contact and seizures, and variable multisystemic involvement including malabsorption, progressive growth failure, recurrent infections, chronic hemolytic anemia and liver dysfunction. Kidney dysfunction, cardiac involvement including cardiomegaly and cardiac hypertrophy, decreased vision and strabismus have also been reported. Lung fibrosis may cause death in infancy from respiratory failure.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fibrosis-neurodegeneration-cerebral angiomatosis syndrome | FINCA · Interstitial lung fibrosis-neurodegeneration-cerebral angiomatosis syndrome |
| fr | Syndrome de fibrose-neurodégénération-angiomatose cérébrale | FINCA · Syndrome de fibrose pulmonaire interstitielle-neurodégénération-angiomatose cérébrale |
| de | Fibrose-Neurodegeneration-zerebrales Angiomatose-Syndrom | FINCA · Syndrom der interstitiellen Lungenfibrose, Neurodegeneration und zerebralen Angiomatose |
| es | Síndrome de fibrosis-neurodegeneración-angiomatosis cerebral | FINCA · Síndrome de fibrosis pulmonar intersticial-neurodegeneración-angiomatosis cerebral |
| it | Sindrome da fibrosi, neurodegenerazione e angiomatosi cerebrale | FINCA · Sindrome da fibrosi polmonare interstiziale, neurodegenerazione e angiomatosi cerebrale |
| nl | Fibrose - neurodegeneratie - cerebrale angiomatose-syndroom | FINCA · Interstitiële longfibrose - neurodegeneratie - cerebrale angiomatose-syndroom |
| pt | Síndrome de fibrose-neurodegenerescência-angiomatose cerebral | FINCA · Síndrome de fibrose pulmonar intersticial-neurodegenerescência-angiomatose cerebral |
| pl | Zespół włóknienia-neurodegeneracji-naczyniakowatości mózgu | = en |
| cs | Syndrom zahrnující fibrózu, neurodegeneraci a mozkovou angiomatózu | = en |
| uk | Синдром фіброзу-нейродегенерації-церебрального ангіоматозу | FINCA · Синдром інтерстиціального фіброзу легень-нейродегенерації-церебрального ангіоматозу |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618278 | E | validated | |
| ICD-10 | G31.8 | NTBT | attributed | validated |
| ICD-11 | CB0Y | NTBT | attributed | validated |
| MONDO | 0850090 | E | validated | |
| MONDO | 32651 | E | validated | |
| MONDO | 850090 | E | validated | |
| UMLS | C4748939 | 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 (5):
- ORPHA:477754Genetic cerebral small vessel disease
rare genetic diseases; rare neurological diseases - ORPHA:264992Genetic interstitial lung disease
rare genetic diseases - ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:264694Interstitial lung disease specific to infancy
rare respiratory diseases; rare transplant-related disorders - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NHLRC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:24731 | ENSG00000196865 | 618277 | 10q25.3 | NHL repeat containing 2 | 30138417[PMID]_30239752[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 34165204[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 34165204[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/621758
- This record as JSON: /data/d/621758.json