Congenital disorder of glycosylation
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CDG Carbohydrate deficient glycoprotein syndrome |
| Number of Symptoms | 26 |
| OrphanetNr: | 137 |
| OMIM Id: |
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| ICD-10: |
E77.8 |
| 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:
| Prevalence: | 1.5 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive X-linked recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Inborn errors of metabolism
-Rare genetic disease |
Symptom Information:
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(HPO:0000112) | Nephropathy | Occasional [Orphanet] | 92 / 7739 | |||
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(HPO:0000337) | Broad forehead | Frequent [Orphanet] | 116 / 7739 | |||
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(HPO:0000510) | Rod-cone dystrophy | Very frequent [Orphanet] | 266 / 7739 | |||
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(HPO:0000486) | Strabismus | Very frequent [Orphanet] | 576 / 7739 | |||
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(HPO:0000478) | Abnormality of the eye | Frequent [Orphanet] | 126 / 7739 | |||
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(HPO:0001250) | Seizures | Frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0009830) | Peripheral neuropathy | Occasional [Orphanet] | 206 / 7739 | |||
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(HPO:0004404) | Abnormality of the nipple | Very frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0006709) | Aplasia/Hypoplasia of the nipples | Very frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0008373) | Puberty and gonadal disorders | Frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0006568) | Increased hepatic glycogen content | Very frequent [Orphanet] | 34 / 7739 | |||
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(HPO:0002250) | Abnormality of the large intestine | Occasional [Orphanet] | 32 / 7739 | |||
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(HPO:0002910) | Elevated hepatic transaminases | Very frequent [Orphanet] | 158 / 7739 | |||
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(HPO:0001541) | Ascites | Occasional [Orphanet] | 94 / 7739 | |||
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(HPO:0001410) | Decreased liver function | Occasional [Orphanet] | 59 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0001638) | Cardiomyopathy | Frequent [Orphanet] | 192 / 7739 | |||
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(HPO:0001697) | Abnormality of the pericardium | Frequent [Orphanet] | 52 / 7739 | |||
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(HPO:0001928) | Abnormality of coagulation | Very frequent [Orphanet] | 44 / 7739 | |||
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(HPO:0011013) | Abnormality of carbohydrate metabolism/homeostasis | Very frequent [Orphanet] | 2 / 7739 | |||
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(HPO:0001943) | Hypoglycemia | Frequent [Orphanet] | 131 / 7739 | |||
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(HPO:0010978) | Abnormality of immune system physiology | Very frequent [Orphanet] | 148 / 7739 | |||
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(HPO:0009125) | Lipodystrophy | Very frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0002334) | Abnormality of the cerebellar vermis | Very frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0002120) | Cerebral cortical atrophy | Very frequent [Orphanet] | 187 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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