ORPHA:371428
Multicentric osteolysis-nodulosis-arthropathy spectrum
Synonyms: MONA spectrum
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare systemic or rheumatologic disease characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multicentric osteolysis-nodulosis-arthropathy spectrum | MONA spectrum |
| fr | Spectre ostéolyse multicentrique-nodulose-arthropathie | Spectre MONA |
| de | Multizentrische Osteolyse-Nodulose-Arthropathie-Spektrum | MONA-Spektrum |
| es | Espectro osteólisis multicéntrica-nodulosis-artropatía | Espectro MONA |
| it | Spettro osteolisi multicentrica-nodulosi-artropatia | Spettro MONA |
| nl | Multicentrische osteolyse - nodulose - artropathie-spectrum | MONA-spectrum |
| pt | Espectro clínico de osteólise multicêntrica-nodulose-artropatia | |
| pl | Spektrum osteoliza wieloogniskowa-guzkowatość-artropatia | Spektrum MONA |
| cs | MONA spektrum | Spektrum zahrnující multicentrickou osteolýzu, nodulózu a artropatii |
| uk | Спектр мультицентричного остеолізу-нодульозу-артропатії | Спектр MONA · Синдром NAO · Синдром нодулозу-артропатії-остеолізу · Торг-Вінчестерський синдром |
| zh | 多中心骨质溶解-结节-关节病谱系 | 结节变性-关节病-骨溶解综合征 |
| tr | Çok merkezli osteoliz-nodüloz-artropati spektrumu | NAO sendromu · MONA spektrumu · Torg-Winchester sendromu · Nodüloz-artropati-osteoliz sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 259600 | BTNT | validated | |
| OMIM | 277950 | BTNT | validated | |
| ICD-10 | M89.5 | NTBT | attributed | validated |
| MONDO | 0018298 | E | validated | |
| UMLS | C1850155 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:93449Primary osteolysis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2775Autosomal recessive carpotarsal osteolysis moved to · inactive
- ORPHA:3460Torg-Winchester syndrome moved to · inactive
- ORPHA:85196Nodulosis-arthropathy-osteolysis syndrome moved to · inactive
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MMP14 | Disease-causing germline mutation(s) in | Assessed | HGNC:7160 | ENSG00000157227 | 600754 | 14q11.2 | matrix metallopeptidase 14 | 22922033[PMID] |
| MMP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:7166 | ENSG00000087245 | 120360 | 16q12.2 | matrix metallopeptidase 2 | 22922033[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
39 annotations · validated 2019-10-31| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0005922 | Abnormal hand morphology | |
| HP:0001369 | Arthritis | |
| HP:0003040 | Arthropathy | |
| HP:0001495 | Carpal osteolysis | |
| HP:0001007 | Hirsutism | |
| HP:0002797 | Osteolysis | |
| HP:0009139 | Osteolysis involving bones of the lower limbs | |
| HP:0045039 | Osteolysis involving bones of the upper limbs | |
| HP:0006234 | Osteolysis involving tarsal bones | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| Frequent (79-30%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0000248 | Brachycephaly | |
| HP:0000916 | Broad clavicles | |
| HP:0001230 | Broad metacarpals | |
| HP:0011355 | Localized skin lesion | |
| HP:0005441 | Sclerotic cranial sutures | |
| HP:0001482 | Subcutaneous nodule | |
| Occasional (29-5%) | ||
| HP:0000315 | Abnormality of the orbital region | |
| HP:0001631 | Atrial septal defect | |
| HP:0001678 | Atrioventricular block | |
| HP:0001647 | Bicuspid aortic valve | |
| HP:0001680 | Coarctation of aorta | |
| HP:0001719 | Double outlet right ventricle | |
| HP:0000822 | Hypertension | |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0001249 | Intellectual disability | |
| HP:0000612 | Iris coloboma | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0005994 | Nodular goiter | |
| HP:0001539 | Omphalocele | |
| HP:0001085 | Papilledema | |
| HP:0000147 | Polycystic ovaries | |
| HP:0010314 | Premature thelarche | |
| HP:0001059 | Pterygium | |
| HP:0100651 | Type I diabetes mellitus | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 26601801[PMID]_27687687[PMID]_10861675[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/371428
- This record as JSON: /data/d/371428.json