ORPHA:2774
Multicentric carpo-tarsal osteolysis with or without nephropathy
Synonyms: Idiopathic multicentric osteolysis with or without nephropathy
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multicentric carpo-tarsal osteolysis with or without nephropathy | Idiopathic multicentric osteolysis with or without nephropathy |
| fr | Ostéolyse carpo-tarsienne multicentrique avec ou sans néphropathie | Ostéolyse multicentrique idiopathique avec ou sans néphropathie |
| de | Multizentrische karpotarsale Osteolyse mit oder ohne Nephropathie | Osteolyse, idiopathische multizentrische, mit oder ohne Nephropathie |
| es | Osteólisis multicéntrica carpotarsal con o sin nefropatía | Osteólisis multicéntrica idiopática con o sin nefropatía |
| it | Osteolisi capotarsale multicentrica con o senza nefropatia | Osteolisi multicentrica idiopatica con o senza nefropatia |
| nl | Multicentrische carpotarsale osteolyse met of zonder nefropathie | Idiopathische multicentrische osteolyse met of zonder nefropathie |
| pt | Osteólise carpo-társica multicêntrica com ou sem nefropatia | Osteólise multicêntrica idiopática com ou sem nefropatia |
| pl | Wielocentryczna osteoliza nadgarstkowo-stępowa z lub bez nefropatii | Idiopatyczna wielocentryczna osteoliza z lub bez nefropatii |
| cs | Multicentrická karpotarzální osteolýza s nebo bez nefropatie | Idiopatická multicentrická osteolýza s nebo bez nefropatie |
| uk | Мультицентричний карпо-тарзальний остеоліз з нефропатією або без неї | Ідіопатичний мультицентровий остеоліз з нефропатією або без неї |
| zh | 多中心腕跗骨骨质溶解伴或不伴肾病 | 特发性多中心性骨质溶解伴或不伴肾病 |
| tr | Nefropatili veya nefropatisiz multisentrik karpo-tarsal osteoliz | Nefropati ile seyreden veya seyretmeyen idiyopatik çok merkezli osteoliz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 166300 | E | validated | |
| ICD-10 | M89.5 | NTBT | attributed | validated |
| ICD-11 | FB86.2 | BTNT | index | validated |
| MONDO | 0008152 | E | validated | |
| MeSH | C567171 | E | validated | |
| UMLS | C2674705 | 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 (2):
- ORPHA:93449Primary osteolysis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAFB | Disease-causing germline mutation(s) in | Assessed | HGNC:6408 | ENSG00000204103 | 608968 | 20q12 | MAF bZIP transcription factor B | 22387013[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003019 | Abnormality of the wrist | |
| HP:0004326 | Cachexia | |
| HP:0001495 | Carpal osteolysis | |
| HP:0003457 | EMG abnormality | |
| HP:0001288 | Gait disturbance | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0001504 | Metacarpal osteolysis | |
| HP:0000347 | Micrognathia | |
| HP:0002797 | Osteolysis | |
| HP:0000520 | Proptosis | |
| HP:0000093 | Proteinuria | |
| HP:0003100 | Slender long bone | |
| HP:0000325 | Triangular face | |
| HP:0001225 | Wrist swelling | |
| Frequent (79-30%) | ||
| HP:0100490 | Camptodactyly of finger | |
| HP:0000112 | Nephropathy | |
| Occasional (29-5%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0001561 | Polyhydramnios | |
| HP:0000506 | Telecanthus | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2774
- This record as JSON: /data/d/2774.json