CONGENITAL DISORDER OF DEGLYCOSYLATION

General Information (adopted from Orphanet):

Synonyms, Signs: CDG1V
CDG Iv
CDGIv
Number of Symptoms 22
OrphanetNr:
OMIM Id: 615273
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001263) Global developmental delay 853 / 7739
2
(HPO:0004305) Involuntary movements 50 / 7739
3
(HPO:0009830) Peripheral neuropathy 206 / 7739
4
(HPO:0200055) Small hand 71 / 7739
5
(HPO:0001773) Short foot 86 / 7739
6
(HPO:0002910) Elevated hepatic transaminases 158 / 7739
7
(HPO:0001324) Muscle weakness 859 / 7739
8
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
9
(HPO:0010547) Muscle flaccidity 466 / 7739
10
(HPO:0001252) Muscular hypotonia 990 / 7739
11
(OMIM) Normal transferrin isoelectric focusing test 1 / 7739
12
(OMIM) Abnormal urine oligosaccharides (keratan sulfate, heparan sulfate, and chondroitin sulfate) 1 / 7739
13
(OMIM) Congenital absence of tears 1 / 7739
14
(OMIM) Prominent perivascular spaces with surrounding gliosis in periatrial white matter 1 / 7739
15
(HPO:0012448) Delayed myelination 51 / 7739
16
(OMIM) Inflammatory liver changes 1 / 7739
17
(OMIM) Amorphous substance in the cytoplasm 1 / 7739
18
(OMIM) Regression of motor development 2 / 7739
19
(OMIM) Epilepsy, multifocal, intractable 1 / 7739
20
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
21
(OMIM) Normal N-glycan analysis 1 / 7739
22
(OMIM) Delayed myelination, mild 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Need et al. (2012) and Shashi (2013) reported a boy with a phenotype consistent with a congenital disorder of glycosylation. He presented with developmental delay, hypotonia, involuntary movements, intractable multifocal epilepsy, abnormal liver function, congenital absence of tears, ...
Molecular genetics OMIM By whole-exome sequencing in a family in which a boy had developmental delay, multifocal epilepsy, involuntary movements, abnormal liver function, and absent tears, Need et al. (2012) found that the boy was compound heterozygous for 2 mutations in ...