DPM1-CDG

General Information (adopted from Orphanet):

Synonyms, Signs: CDG1E
Congenital disorder of glycosylation type Ie
Congenital disorder of glycosylation type 1e
Dol-P-mannosyltransferase deficiency
CDG Ie
CDG-Ie
Carbohydrate deficient glycoprotein syndrome type Ie
CDG syndrome type Ie
CDGIe
Number of Symptoms 64
OrphanetNr: 79322
OMIM Id: 608799
ICD-10: E77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 14 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
Disorder of multiple glycosylation
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0005469) Flat occiput 30 / 7739
2
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
3
 (HPO:0005484) Postnatal microcephaly 32 / 7739
4
 (HPO:0000347) Micrognathia 426 / 7739
5
 (HPO:0005280) Depressed nasal bridge 381 / 7739
6
 (HPO:0000316) Hypertelorism 644 / 7739
7
 (HPO:0002705) High, narrow palate 308 / 7739
8
 (HPO:0000319) Smooth philtrum 72 / 7739
9
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
10
 (HPO:0100704) Cortical visual impairment 28 / 7739
11
 (HPO:0000478) Abnormality of the eye Very frequent [Orphanet] 126 / 7739
12
 (HPO:0000488) Retinopathy 75 / 7739
13
 (HPO:0001103) Abnormality of the macula 7 / 7739
14
 (HPO:0000648) Optic atrophy 238 / 7739
15
 (HPO:0000486) Strabismus 576 / 7739
16
 (HPO:0000639) Nystagmus 555 / 7739
17
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
18
 (HPO:0002353) EEG abnormality 188 / 7739
19
 (HPO:0001251) Ataxia 413 / 7739
20
 (HPO:0002395) Lower limb hyperreflexia 26 / 7739
21
 (HPO:0001337) Tremor 200 / 7739
22
 (HPO:0011344) Severe global developmental delay 46 / 7739
23
 (HPO:0006466) Ankle contracture 17 / 7739
24
 (HPO:0200055) Small hand 71 / 7739
25
 (HPO:0009824) Upper limb undergrowth 8 / 7739
26
 (HPO:0006380) Knee flexion contracture 56 / 7739
27
 (HPO:0012385) Camptodactyly 113 / 7739
28
 (HPO:0004279) Short palm 323 / 7739
29
 (HPO:0001744) Splenomegaly 337 / 7739
30
 (HPO:0002910) Elevated hepatic transaminases 158 / 7739
31
 (HPO:0002240) Hepatomegaly 467 / 7739
32
 (HPO:0001508) Failure to thrive 454 / 7739
33
 (HPO:0002164) Nail dysplasia 82 / 7739
34
 (HPO:0001048) Cavernous hemangioma 28 / 7739
35
 (HPO:0001028) Hemangioma 23 / 7739
36
 (HPO:0001009) Telangiectasia 46 / 7739
37
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
38
 (HPO:0004855) Reduced protein S activity 2 / 7739
39
 (HPO:0005543) Reduced protein C activity 4 / 7739
40
 (HPO:0003645) Prolonged partial thromboplastin time 20 / 7739
41
 (HPO:0001976) Reduced antithrombin III activity 10 / 7739
42
 (HPO:0012301) Type II transferrin isoform profile 6 / 7739
43
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
44
 (HPO:0003160) Abnormal isoelectric focusing of serum transferrin 10 / 7739
45
 (HPO:0003642) Type I transferrin isoform profile 16 / 7739
46
 (HPO:0002098) Respiratory distress 75 / 7739
47
 (HPO:0003560) Muscular dystrophy 88 / 7739
48
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
49
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
50
 (HPO:0001324) Muscle weakness 859 / 7739
51
 (HPO:0010547) Muscle flaccidity 466 / 7739
52
 (OMIM) MRI shows decreased myelination 1 / 7739
53
 (HPO:0003828) Variable expressivity 130 / 7739
54
 (HPO:0003593) Infantile onset 249 / 7739
55
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
56
 (OMIM) Decreased tetrasialotransferrin levels 1 / 7739
57
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
58
 (OMIM) Abnormal EEG with epileptiform changes 1 / 7739
59
 (OMIM) Inverted 'V-shaped' mouth 3 / 7739
60
 (OMIM) No visual fixation 1 / 7739
61
 (OMIM) Increased disialotransferrin and asialotransferrin levels 1 / 7739
62
 (OMIM) 'Gothic' palate 1 / 7739
63
 (HPO:0003676) Progressive disorder 148 / 7739
64
 (HPO:0006879) Pontocerebellar atrophy 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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 ...
Clinical Description OMIM Kim et al. (2000) reported 2 patients with phenotypic and biochemical features consistent with a congenital disorder of glycosylation. The first patient was seen at age 10 months because of developmental delay, hypotonia, seizures, and acquired microcephaly. Telangiectases ...
Molecular genetics OMIM In 2 unrelated patients with CDG Ie, Kim et al. (2000) identified mutations in the DPM1 gene: 1 patient was homozygous (603503.0001) and the other patient was compound heterozygous (603503.0001; 603503.0002). Defects in DPM1 defined a new glycosylation ...