ORPHA:163634
Maffucci syndrome
Synonyms: Enchondromatosis Spranger type II · Multiple Enchondromatosis type II · Multiple Enchondromatosis, Maffucci Type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood
- Status
- active
A rare disorder characterized by multiple enchondromatosis associated with multiple (dark, irregularly shaped) hemangiomas. Less commonly, lymphangiomas are also reported.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Maffucci syndrome | Enchondromatosis Spranger type II · Multiple Enchondromatosis type II · Multiple Enchondromatosis, Maffucci Type |
| fr | Syndrome de Maffucci | Multiple Enchondromatosis, type Maffucci |
| de | Maffucci-Syndrom | |
| es | Síndrome de Maffucci | |
| it | Sindrome di Maffucci | |
| nl | Syndroom van Maffucci | |
| pt | Síndrome de Maffucci | |
| pl | Zespół Maffuciego | = en |
| cs | Maffucciho syndrom | = en |
| uk | Синдром Маффуччі | Енхондроматоз Шпрангера типу II · Множинний енхондроматоз II типу · Множинний енхондроматоз, тип Маффуччі |
| zh | Maffucci 综合征 | |
| tr | Maffucci sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614569 | E | validated | |
| ICD-10 | Q78.4 | NTBT | inclusion | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0013808 | E | validated | |
| UMLS | C0024454 | E | validated | |
| GARD | 6958 | E | validated | |
| MedDRA | 10083007 | 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 (10):
- ORPHA:183527Genetic bone tumor
rare genetic diseases - ORPHA:459537Genetic complex vascular malformation with associated anomalies
rare genetic diseases - ORPHA:183478Genetic skin vascular disorder
rare genetic diseases - ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:98196Malformation syndrome with hamartosis
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:93460Overgrowth syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:93450Primary bone dysplasia with disorganized development of skeletal components
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:68411Rare bone tumor
rare bone diseases; rare neoplastic diseases - ORPHA:79379Skin vascular disease
rare skin diseases - ORPHA:723261Syndromic venous malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IDH1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:5382 | ENSG00000138413 | 147700 | 2q34 | isocitrate dehydrogenase (NADP(+)) 1 | 22057234[PMID]_22057236[PMID] |
| IDH2 | Disease-causing somatic mutation(s) in | Assessed | HGNC:5383 | ENSG00000182054 | 147650 | 15q26.1 | isocitrate dehydrogenase (NADP(+)) 2 | 22057234[PMID]_22057236[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 250 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.
6
HPO phenotypes
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007461 | Hemangiomatosis | |
| HP:0005701 | Multiple enchondromatosis | |
| HP:0002797 | Osteolysis | |
| HP:0004936 | Venous thrombosis | |
| Frequent (79-30%) | ||
| HP:0002653 | Bone pain | |
| HP:0100777 | Exostoses | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| HP:0001482 | Subcutaneous nodule | |
| Occasional (29-5%) | ||
| HP:0009592 | Astrocytoma | |
| HP:0003002 | Breast carcinoma | |
| HP:0100021 | Cerebral palsy | |
| HP:0006765 | Chondrosarcoma | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0002015 | Dysphagia | |
| HP:0000853 | Goiter | |
| HP:0001510 | Growth delay | |
| HP:0100641 | Neoplasm of the adrenal cortex | |
| HP:0100733 | Neoplasm of the parathyroid gland | |
| HP:0100615 | Ovarian neoplasm | |
| HP:0002897 | Parathyroid adenoma | |
| HP:0002893 | Pituitary adenoma | |
| HP:0002757 | Recurrent fractures | |
| HP:0100242 | Sarcoma | |
Run the differential on the 4 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/163634
- This record as JSON: /data/d/163634.json