MPDU1-CDG
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CDG1F Congenital disorder of glycosylation type If Congenital disorder of glycosylation type 1f CDG-If Carbohydrate deficient glycoprotein syndrome type If CDG If CDG syndrome type If CDGIf |
| Number of Symptoms | 20 |
| OrphanetNr: | 79323 |
| OMIM Id: |
609180
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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: | 7 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Congenital disorder of glycosylation with epilepsy as a major feature
-Rare genetic disease -Rare neurologic disease Congenital disorder of glycosylation with skin involvement -Rare genetic disease -Rare skin disease Disorder of multiple glycosylation -Rare genetic disease Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0000648) | Optic atrophy | 238 / 7739 | ||||
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(HPO:0000478) | Abnormality of the eye | Very frequent [Orphanet] | 126 / 7739 | |||
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(HPO:0000639) | Nystagmus | 555 / 7739 | ||||
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(HPO:0000486) | Strabismus | 576 / 7739 | ||||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0001344) | Absent speech | 57 / 7739 | ||||
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0001276) | Hypertonia | rare [HPO:skoehler] | 317 / 7739 | |||
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(HPO:0001371) | Flexion contracture | 220 / 7739 | ||||
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(HPO:0011968) | Feeding difficulties | rare [HPO:skoehler] | 240 / 7739 | |||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0000962) | Hyperkeratosis | 216 / 7739 | ||||
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(HPO:0000958) | Dry skin | 152 / 7739 | ||||
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(HPO:0001019) | Erythroderma | 24 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0040189) | Scaling skin | 6 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0002059) | Cerebral atrophy | 171 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin. For a general ... |
| Clinical Description OMIM |
Schenk et al. (2001) described 3 unrelated patients with clinical features consistent with a congenital disorder of glycosylation. Patient 'S' had intractable seizures from birth, severe feeding difficulties, no psychomotor development, and patchy desquamation over his entire body. ... |
| Molecular genetics OMIM |
In 3 unrelated patients with type I CDG, Schenk et al. (2001) identified mutations in the MPDU1 gene: 2 patients ('S' and 'A') of consanguineous parents were homozygotes (604041.0001 and 604041.0002, respectively) and the other (patient 'L') was ... |