ORPHA:2591
Infantile myofibromatosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. It contains myofibroblasts.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile myofibromatosis | |
| fr | Myofibromatose infantile | |
| de | Myofibromatose, infantile | |
| es | Miofibromatosis infantil | |
| it | Miofibromatosi infantile | |
| nl | Infantiele myofibromatose | |
| pt | Miofibromatose da infância | |
| pl | Miofibromatoza noworodków | |
| cs | Infantilní myofibromatóza | |
| uk | Інфантильний міофіброматоз | |
| zh | 婴儿型肌纤维瘤病 | |
| tr | İnfantil miyofibromatozis |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 228550 | E | validated | |
| OMIM | 615293 | BTNT | validated | |
| ICD-10 | D48.1 | NTBT | attributed | validated |
| ICD-11 | 2F7C | NTBT | index | validated |
| MONDO | 0016824 | E | validated | |
| MeSH | C562978 | E | validated | |
| UMLS | C0432284 | E | validated | |
| GARD | 2998 | 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 (5):
- ORPHA:183487Genetic skin tumor or hamartoma
rare genetic diseases - ORPHA:271832Genetic soft tissue tumor
rare genetic diseases - ORPHA:206982Muscular tumor
rare neurological diseases - ORPHA:79386Rare skin tumor or hamartoma
rare skin diseases; rare neoplastic diseases - ORPHA:71209Rare soft tissue tumor
rare neoplastic diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NOTCH3 | Disease-causing germline mutation(s) in | Assessed | HGNC:7883 | ENSG00000074181 | 600276 | 19p13.12 | notch receptor 3 | 23731542[PMID] |
| PDGFRB | Disease-causing germline mutation(s) in | Assessed | HGNC:8804 | ENSG00000113721 | 173410 | 5q32 | platelet derived growth factor receptor beta | 23731537[PMID]_23731542[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.67 / 100 000 | Europe | Value and class | Validated | ISBN:443043469[OTHER]_23686518[PMID] |
| Point prevalence | Unknown | — | 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
28 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0003011 | Abnormality of the musculature | |
| HP:0012062 | Bone cyst | |
| HP:0010614 | Fibroma | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0100242 | Sarcoma | |
| HP:0001482 | Subcutaneous nodule | |
| Frequent (79-30%) | ||
| HP:0002242 | Abnormal intestine morphology | |
| HP:0000929 | Abnormal skull morphology | |
| HP:0000765 | Abnormal thorax morphology | |
| HP:0000271 | Abnormality of the face | |
| HP:0001595 | Abnormality of the hair | |
| HP:0000934 | Chondrocalcinosis | |
| HP:0000169 | Gingival fibromatosis | |
| HP:0100526 | Neoplasm of the lung | |
| Occasional (29-5%) | ||
| HP:0005107 | Abnormal sacrum morphology | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0100835 | Benign neoplasm of the central nervous system | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0003072 | Hypercalcemia | |
| HP:0005214 | Intestinal obstruction | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0002894 | Neoplasm of the pancreas | |
| HP:0002797 | Osteolysis | |
| HP:0200042 | Skin ulcer | |
| HP:0002575 | Tracheoesophageal fistula | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2591
- This record as JSON: /data/d/2591.json