Somatic mutation
Symptom Information:
| Symptom ID: | HPO:0001428 | ||
| Synonyms: |
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| Quality: | |||
| Cross references: |
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| Is a (Direct Parents): |
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| Is a (Whole tree): |
HPO:
All(HPO:0000001) Mode of inheritance(HPO:0000005) Somatic mutation(HPO:0001428) MedDRA: |
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| Database Frequency: | 100 / 7739 | ||
| Resource: |
All diseases associated with this symptom:
| 10q22.3q23.3 microduplication syndrome | (Orphanet:276422) |
| 15q11q13 microduplication syndrome | (Orphanet:238446) |
| 16p11.2p12.2 microduplication syndrome | (Orphanet:261204) |
| 16p13.11 microduplication syndrome | (Orphanet:261243) |
| 17p11.2 microduplication syndrome | (Orphanet:1713) |
| 17q11.2 microduplication syndrome | (Orphanet:139474) |
| 17q12 microduplication syndrome | (Orphanet:261272) |
| 17q21.31 microduplication syndrome | (Orphanet:217340) |
| 1q21.1 microduplication syndrome | (Orphanet:250994) |
| 22q11.2 microduplication syndrome | (Orphanet:1727) |
| 2q37 microdeletion syndrome | (Orphanet:1001) |
| 3q29 microduplication | (Orphanet:251038) |
| 8p23.1 microduplication syndrome | (Orphanet:251076) |
| 8q12 microduplication syndrome | (Orphanet:228399) |
| Acute promyelocytic leukemia | (Orphanet:520) |
| Adult-onset autosomal dominant leukodystrophy | (Orphanet:99027) |
| Alagille syndrome | (Orphanet:52) |
| Alveolar soft-part sarcoma | (Orphanet:163699) |
| B-CELL CLL/LYMPHOMA 2 | (OMIM:151430) |
| Cat-eye syndrome | (Orphanet:195) |
| Chronic myeloid leukemia | (Orphanet:521) |
| Denys-Drash syndrome | (Orphanet:220) |
| Distal 22q11.2 microduplication syndrome | (Orphanet:261337) |
| Distal 7q11.23 microduplication syndrome | (Orphanet:261102) |
| Distal limb deficiencies - micrognathia syndrome | (Orphanet:1307) |
| Distal monosomy 10p | (Orphanet:1580) |
| Distal monosomy 7q36 | (Orphanet:1636) |
| Distal monosomy 9p | (Orphanet:1642) |
| Distal trisomy 14q | (Orphanet:1705) |
| Distal trisomy 15q | (Orphanet:1707) |
| Distal trisomy 18q | (Orphanet:1716) |
| Distal trisomy 6p | (Orphanet:1745) |
| Down syndrome | (Orphanet:870) |
| Esophageal adenocarcinoma | (Orphanet:99976) |
| Essential thrombocythemia | (Orphanet:3318) |
| Extraskeletal myxoid chondrosarcoma | (Orphanet:209916) |
| Familial clubfoot due to 17q23.1q23.2 microduplication | (Orphanet:238578) |
| Familial isolated pituitary adenoma | (Orphanet:314777) |
| Frasier syndrome | (Orphanet:347) |
| Gastric cancer | (Orphanet:63443) |
| Glial tumor | (Orphanet:182067) |
| HISTIOCYTOMA, ANGIOMATOID FIBROUS | (OMIM:612160) |
| Hepatocellular carcinoma | (Orphanet:88673) |
| Holoprosencephaly | (Orphanet:2162) |
| INSULINOMA TUMOR SUPPRESSOR GENE LOCUS | (OMIM:606960) |
| Ito hypomelanosis | (Orphanet:435) |
| Juvenile myelomonocytic leukemia | (Orphanet:86834) |
| LEIOMYOMA, UTERINE | (OMIM:150699) |
| LEUKEMIA, CHRONIC LYMPHOCYTIC | (OMIM:151400) |
| Liposarcoma | (Orphanet:69078) |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | (Orphanet:60040) |
| Microduplication Xp11.22-p11.23 syndrome | (Orphanet:217377) |
| Monosomy 13q14 | (Orphanet:1587) |
| Monosomy 18p | (Orphanet:1598) |
| Monosomy 5p | (Orphanet:281) |
| Mosaic trisomy 14 | (Orphanet:1703) |
| Mosaic trisomy 15 | (Orphanet:1706) |
| Mosaic trisomy 8 | (Orphanet:96061) |
| Mosaic trisomy 9 | (Orphanet:99776) |
| Multiple myeloma | (Orphanet:29073) |
| Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality | (Orphanet:86841) |
| Myelodysplastic syndromes | (Orphanet:52688) |
| Nephroblastoma | (Orphanet:654) |
| Neuroepithelioma | (Orphanet:2677) |
| Neurofibromatosis type 3 | (Orphanet:93921) |
| Non-distal trisomy 10q | (Orphanet:1695) |
| Non-distal trisomy 13q | (Orphanet:1702) |
| PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 | (OMIM:615399) |
| PROTEIN KINASE C, ALPHA | (OMIM:176960) |
| PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 1 | (OMIM:600845) |
| Parathyroid carcinoma | (Orphanet:143) |
| Paroxysmal nocturnal hemoglobinuria | (Orphanet:447) |
| Pentasomy X | (Orphanet:11) |
| Pilomatrixoma | (Orphanet:91414) |
| Polycythemia vera | (Orphanet:729) |
| Prader-Willi syndrome | (Orphanet:739) |
| Retinoblastoma | (Orphanet:790) |
| Synovial sarcoma | (Orphanet:3273) |
| THROMBOCYTHEMIA 2 | (OMIM:601977) |
| THROMBOCYTHEMIA 3 | (OMIM:614521) |
| Tetraploidy | (Orphanet:3305) |
| Tetrasomy X | (Orphanet:9) |
| Translocation renal cell carcinoma | (Orphanet:319308) |
| Triploidy | (Orphanet:3376) |
| Trisomy 12p | (Orphanet:1699) |
| Trisomy 13 | (Orphanet:3378) |
| Trisomy 17p | (Orphanet:261290) |
| Trisomy 18 | (Orphanet:3380) |
| Trisomy 20p | (Orphanet:261318) |
| Trisomy 4p | (Orphanet:1738) |
| Trisomy 5p | (Orphanet:1742) |
| Trisomy 8q | (Orphanet:1752) |
| Trisomy 9p | (Orphanet:236) |
| Trisomy X | (Orphanet:3375) |
| Trisomy Xq28 | (Orphanet:1762) |
| WAGR syndrome | (Orphanet:893) |
| WILMS TUMOR 2 | (OMIM:194071) |
| WILMS TUMOR 5 | (OMIM:601583) |
| Xp22.3 microdeletion syndrome | (Orphanet:1643) |
| Xq27.3q28 duplication syndrome | (Orphanet:261483) |