TRYPTOPHANURIA WITH DWARFISM
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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10
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OrphanetNr:
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OMIM Id:
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276100
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ICD-10:
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UMLs:
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MeSH:
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MedDRA:
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Snomed:
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Prevalence, inheritance and age of onset:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive
[Omim]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0003361)
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Tryptophanuria |
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3 / 7739
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2
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(HPO:0000524)
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Conjunctival telangiectasia |
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17 / 7739
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3
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(HPO:0001249)
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Intellectual disability |
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1089 / 7739
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4
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(HPO:0001288)
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Gait disturbance |
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318 / 7739
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5
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(HPO:0001251)
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Ataxia |
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413 / 7739
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6
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(HPO:0003510)
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Severe short stature |
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90 / 7739
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7
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(HPO:0000992)
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Cutaneous photosensitivity |
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75 / 7739
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8
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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9
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(OMIM)
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No excess indican or indole acetic acid excretion |
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1 / 7739
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10
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(OMIM)
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Tryptophane to kynurenine conversion defect |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |