ORPHA:1525
Cranio-osteoarthropathy
Synonyms: Currarino disease · Currarino idiopathic osteoarthropathy · Reginato-Schiapachasse syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cranio-osteoarthropathy | Currarino disease · Currarino idiopathic osteoarthropathy · Reginato-Schiapachasse syndrome |
| fr | Cranio-ostéo-arthropathie | Maladie de Currarino · Ostéoarthropathie idiopathique de Currarino · Syndrome de Reginato-Schiapachasse |
| de | Kranio-Osteoarthropathie | Reginato-Schiapachasse-Syndrom |
| es | Cráneo-osteo-artropatía | Enfermedad de Currarino · Osteoartropatía idiopática de Currarino · Síndrome de Reginato-Schiapachasse |
| it | Cranio-osteo-artropatia | |
| nl | Cranio-osteoartropathie | Currarino idiopathische osteoartropathie · Reginato-Schiapachassesyndroom · Ziekte van Currarino |
| pt | Cranio-osteo-artropatia | Síndrome Reginato-Schiapachasse |
| pl | Osteoartropatia czaszkowa | Choroba Currarino · Idiopatyczna osteoartropatia Currarino · Zespół Reginato i Schiapachasse |
| cs | Kranioosteoartropatie | Currarinova nemoc · Currarinova idiopatická osteoartropatie · Reginatův-Schiapachasseův syndrom · Reginato-Schiapachasseův syndrom |
| uk | Краніоостеоартропатія | Хвороба Кураріно · Ідіопатична остеоартропатія Кураріно · Синдром Реджанато-Скіапахасса |
| zh | 颅-骨关节病 | Currarino特发性骨关节病 |
| tr | Kranio-osteoartropati | Currarino hastalığı · Reginato-Schiapachasse sendromu · Currarino idiyopatik osteoartropati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 259100 | NTBT | validated | |
| ICD-10 | M89.4 | NTBT | attributed | validated |
| ICD-11 | FB86.10 | NTBT | index | validated |
| MONDO | 0015466 | E | validated | |
| UMLS | C2678439 | E | validated | |
| GARD | 1564 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:248095Primary hypertrophic osteoarthropathy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HPGD | Disease-causing germline mutation(s) in | Assessed | HGNC:5154 | ENSG00000164120 | 601688 | 4q34.1 | 15-hydroxyprostaglandin dehydrogenase | 18500342[PMID]_21438135[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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.
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HPO phenotypes
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003103 | Abnormal cortical bone morphology | |
| HP:0000929 | Abnormal skull morphology | |
| HP:0000239 | Large fontanelles | |
| HP:0001070 | Mottled pigmentation | |
| Frequent (79-30%) | ||
| HP:0002815 | Abnormality of the knee | |
| HP:0002992 | Abnormality of tibia morphology | |
| HP:0002829 | Arthralgia | |
| HP:0001369 | Arthritis | |
| HP:0100760 | Clubbing of toes | |
| HP:0001387 | Joint stiffness | |
| HP:0001386 | Joint swelling | |
| HP:0002758 | Osteoarthritis | |
| Occasional (29-5%) | ||
| HP:0004097 | Deviation of finger | |
| HP:0000964 | Eczematoid dermatitis | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1525
- This record as JSON: /data/d/1525.json