INTRINSIC FACTOR AND R BINDER, COMBINED CONGENITAL DEFICIENCY OF
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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6
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OrphanetNr:
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OMIM Id:
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243320
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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:0005219)
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Absence of intrinsic factor |
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3 / 7739
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2
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(HPO:0001510)
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Growth delay |
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295 / 7739
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3
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(HPO:0001889)
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Megaloblastic anemia |
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28 / 7739
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4
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(OMIM)
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Subacute combined degeneration of the spinal cord |
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1 / 7739
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5
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(OMIM)
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Acid secretion and gastric mucosa normal |
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1 / 7739
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6
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(OMIM)
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R binders absent from gastric juice, serum, saliva, and polymorphonuclear leukocytes |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |