Infantile myofibromatosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 31 |
| OrphanetNr: | 2591 |
| OMIM Id: |
228550
615293 |
| ICD-10: |
D21 |
| UMLs: |
C0432284 |
| MeSH: |
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| MedDRA: |
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| Snomed: |
254146000 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Autosomal recessive Not applicable [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic skin tumor
-Rare genetic disease Genetic soft tissue tumor -Rare genetic disease Muscular tumor -Rare neurologic disease Rare skin tumor or hamartoma -Rare oncologic disease -Rare skin disease Rare soft tissue tumor -Rare oncologic disease |
Symptom Information:
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(HPO:0000077) | Abnormality of the kidney | Occasional [Orphanet] | 73 / 7739 | |||
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(HPO:0000168) | Abnormality of the gingiva | Frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0000929) | Abnormality of the skull | Frequent [Orphanet] | 53 / 7739 | |||
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(HPO:0000271) | Abnormality of the face | Frequent [Orphanet] | 108 / 7739 | |||
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(HPO:0000478) | Abnormality of the eye | Occasional [Orphanet] | 126 / 7739 | |||
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(HPO:0100835) | Benign neoplasm of the central nervous system | Occasional [Orphanet] | 12 / 7739 | |||
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(HPO:0004374) | Hemiplegia/hemiparesis | Occasional [Orphanet] | 158 / 7739 | |||
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(HPO:0000944) | Abnormality of the metaphyses | Very frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0002797) | Osteolysis | Occasional [Orphanet] | 68 / 7739 | |||
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(HPO:0001387) | Joint stiffness | Occasional [Orphanet] | 322 / 7739 | |||
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(HPO:0010622) | Neoplasm of the skeletal system | Very frequent [Orphanet] | 30 / 7739 | |||
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(HPO:0003468) | Abnormality of the vertebrae | Occasional [Orphanet] | 77 / 7739 | |||
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(HPO:0012062) | Bone cyst | Very frequent [Orphanet] | 19 / 7739 | |||
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(HPO:0005107) | Abnormality of the sacrum | Occasional [Orphanet] | 18 / 7739 | |||
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(HPO:0000765) | Abnormality of the thorax | Frequent [Orphanet] | 64 / 7739 | |||
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(HPO:0002250) | Abnormality of the large intestine | Frequent [Orphanet] | 32 / 7739 | |||
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(HPO:0005214) | Intestinal obstruction | Occasional [Orphanet] | 35 / 7739 | |||
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(HPO:0002575) | Tracheoesophageal fistula | Occasional [Orphanet] | 54 / 7739 | |||
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(HPO:0002894) | Neoplasm of the pancreas | Occasional [Orphanet] | 17 / 7739 | |||
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(HPO:0001031) | Subcutaneous lipoma | Very frequent [Orphanet] | 112 / 7739 | |||
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(HPO:0007400) | Irregular hyperpigmentation | Occasional [Orphanet] | 72 / 7739 | |||
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(HPO:0200042) | Skin ulcer | Occasional [Orphanet] | 138 / 7739 | |||
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(HPO:0003072) | Hypercalcemia | Occasional [Orphanet] | 36 / 7739 | |||
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(HPO:0100526) | Neoplasm of the lung | Frequent [Orphanet] | 26 / 7739 | |||
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(HPO:0010614) | Fibroma | 10 / 7739 | ||||
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(HPO:0003011) | Abnormality of the musculature | Very frequent [Orphanet] | 47 / 7739 | |||
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(HPO:0003549) | Abnormality of connective tissue | 22 / 7739 | ||||
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(HPO:0030426) | Ossifying fibroma | Very frequent [Orphanet] | 5 / 7739 | |||
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(HPO:0001522) | Death in infancy | Occasional [Orphanet] | 275 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0030448) | Soft tissue sarcoma | Very frequent [Orphanet] | 18 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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