Interstitial lung disease-brain calcification syndrome
Synonyms: Brain calcification, Rajab type · Developmental delay-brain calcification-interstitial lung disease syndrome · Interstitial lung disease-brain calcification syndrome, Rajab type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Interstitial lung disease-brain calcification syndrome | Brain calcification, Rajab type · Developmental delay-brain calcification-interstitial lung disease syndrome · Interstitial lung disease-brain calcification syndrome, Rajab type |
| fr | Syndrome de pneumopathie interstitielle-calcification cérébrale | Calcification cérébrale type Rajab · Pneumopathie interstitielle-calcification cérébrale, type Rajab · Syndrome de retard de développement-calcification cérébrale-pneumopathie interstitielle |
| de | Interstitielle Lungenkrankheit-Gehirnkalzifikation-Syndrom | Entwicklungsverzögerung-Hirnverkalkung-interstitielle Lungenkrankheit-Syndrom · Verkalkung des Gehirns vom Typ Rajab |
| es | Síndrome de enfermedad pulmonar intersticial-calcificación cerebral | Calcificación cerebral tipo Rajab · Síndrome de enfermedad pulmonar intersticial-calcificación cerebral tipo Rajab · Síndrome de retraso del desarrollo-calcificación cerebral-enfermedad pulmonar intersticial |
| it | Sindrome pneumopatia interstiziale-calcificazioni cerebrali | Sindrome ritardo dello sviluppo-calcificazioni cerebrali-pneumopatia interstiziale · Sindrome pneumopatia interstiziale-calcificazioni cerebrali tipo Rajab · Calcificazione cerebrale, tipo Rajab |
| nl | Interstitiële longziekte - calcificatie van hersenen-syndroom | Cerebrale calcificatie, Rajab-type · Hersenverkalking, Rajab-type · Interstitiële longziekte - hersenverkalking-syndroom · Ontwikkelingsachterstand - calcificatie van hersenen - interstitiële longziekte-syndroom · Ontwikkelingsachterstand - hersenverkalking - interstitiële longziekte-syndroom |
| pt | Síndrome de doença pulmonar intersticial-calcificação cerebral | Calcificação cerebral, tipo Rajab · Síndrome de atraso no desenvolvimento-calcificação cerebral-doença pulmonar intersticial · Doença pulmonar intersticial-síndrome de calcificação cerebral, tipo Rajab |
| pl | Zespół śródmiąższowej choroby płuc - zwapnienia mózgu | = en |
| cs | Kalcifikace mozku, typ Rajabové | = en |
| uk | Кальцифікація мозку, тип Раджаб | |
| zh | Rajab型脑钙化 | |
| tr | Beyin kalsifikasyonu, Rajab tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613658 | BTNT | validated | |
| OMIM | 619013 | BTNT | validated | |
| ICD-10 | G93.8 | NTBT | attributed | validated |
| ICD-11 | LD20.4 | NTBT | index | validated |
| MONDO | 100215 | E | validated | |
| UMLS | C3150910 | 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:71859Rare genetic neurological disorder
rare genetic diseases - ORPHA:98006Rare neurologic disease
rare neurological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FARSA | Disease-causing germline mutation(s) in | Assessed | HGNC:3592 | ENSG00000179115 | 602918 | 19p13.13 | phenylalanyl-tRNA synthetase subunit alpha | 39766840[PMID]_31355908[PMID] |
| FARSB | Disease-causing germline mutation(s) in | Assessed | HGNC:17800 | ENSG00000116120 | 609690 | 2q36.1 | phenylalanyl-tRNA synthetase subunit beta | 30014610[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 19161147[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19161147[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/178506
- This record as JSON: /data/d/178506.json