Celiac disease, epilepsy and cerebral calcification syndrome
General Information (adopted from Orphanet):
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Synonyms, Signs:
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CEC
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Number of Symptoms
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10
|
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OrphanetNr:
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1459
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OMIM Id:
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226810
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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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170
cases
[Orphanet]
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Inheritance:
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Not applicable
[Orphanet]
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|
Age of onset:
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Childhood
[Orphanet]
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Inflammatory and autoimmune disease with epilepsy
-Rare neurologic disease
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1
|
(HPO:0000505)
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Visual impairment |
Very frequent [Orphanet]
|
|
|
|
297 / 7739
|
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2
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(HPO:0001250)
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Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
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3
|
(HPO:0002514)
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Cerebral calcification |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
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4
|
(HPO:0002608)
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Celiac disease |
|
|
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5 / 7739
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5
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(HPO:0002250)
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Abnormality of the large intestine |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
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6
|
(HPO:0002024)
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Malabsorption |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
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7
|
(HPO:0100659)
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Abnormality of the cerebral vasculature |
Very frequent [Orphanet]
|
|
|
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25 / 7739
|
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8
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(HPO:0001903)
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Anemia |
Very frequent [Orphanet]
|
|
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289 / 7739
|
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9
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(HPO:0001939)
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Abnormality of metabolism/homeostasis |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
10
|
(HPO:0012758)
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Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |