CITRULLINE TRANSPORT DEFECT
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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7
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OrphanetNr:
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OMIM Id:
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215720
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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 inheritance
[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:0001510)
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Growth delay |
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295 / 7739
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2
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(HPO:0001939)
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Abnormality of metabolism/homeostasis |
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328 / 7739
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3
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(OMIM)
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Serum amino acids normal except for increased citrulline |
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1 / 7739
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4
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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5
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(OMIM)
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Defective uptake of citrulline by fibroblasts and transformed lymphoblasts |
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1 / 7739
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6
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(OMIM)
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Deficient transport system for citrulline |
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1 / 7739
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7
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(OMIM)
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Urine lysine, ornithine, arginine, cystine, and citrulline increased 5 to 10 times normal |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |