RFT1-CDG
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CDG1N CDG syndrome type In Déficit en Man5GlcNAc2-PP-Dol flippase CDGIn Congenital disorder of glycosylation type 1n Congenital disorder of glycosylation type In CDG-In Carbohydrate deficient glycoprotein syndrome type In CDG In Man5GlcNAc2-PP-Dol flippase deficiency |
| Number of Symptoms | 24 |
| OrphanetNr: | 244310 |
| OMIM Id: |
612015
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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: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Congenital disorder of glycosylation with deafness as a major feature
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease Congenital disorder of glycosylation with epilepsy as a major feature -Rare genetic disease -Rare neurologic disease Congenital disorder of glycosylation with hepatic involvement -Rare genetic disease -Rare hepatic disease Disorder of protein N-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:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000470) | Short neck | 345 / 7739 | ||||
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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0007663) | Reduced visual acuity | 100 / 7739 | ||||
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(HPO:0000407) | Sensorineural hearing impairment | 524 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0001257) | Spasticity | 251 / 7739 | ||||
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(HPO:0001347) | Hyperreflexia | 363 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001336) | Myoclonus | 115 / 7739 | ||||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0003186) | Inverted nipples | 15 / 7739 | ||||
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(HPO:0001181) | Adducted thumb | 31 / 7739 | ||||
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(HPO:0008081) | Valgus foot deformity | 3 / 7739 | ||||
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(HPO:0011968) | Feeding difficulties | 240 / 7739 | ||||
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(HPO:0002240) | Hepatomegaly | 467 / 7739 | ||||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0003256) | Abnormality of the coagulation cascade | 19 / 7739 | ||||
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(HPO:0003160) | Abnormal isoelectric focusing of serum transferrin | 10 / 7739 | ||||
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(HPO:0002093) | Respiratory insufficiency | 410 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 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 a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. Type I CDGs comprise defects in the ... |
| Clinical Description OMIM |
Stibler et al. (1998) identified a patient with an untyped disorder of N-linked glycosylation on the basis of detection of abnormal isoelectric focusing of serum transferrin. The patient, designated KS by Imtiaz et al. (2000), showed symptoms often ... |
| Molecular genetics OMIM |
In a patient with an untyped congenital disorder of glycosylation, Haeuptle et al. (2008) found a homozygous point mutation in the RFT1 gene (R67C; 611908.0001). Despite the low sequence identity (22%) between yeast and human RFT1 protein, Haeuptle ... |