DPAGT1-CDG

General Information (adopted from Orphanet):

Synonyms, Signs: CDG1J
CDG syndrome type Ij
CDG Ij
CDGIj
Congenital disorder of glycosylation type 2j
Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency
Congenital disorder of glycosylation type Ij
CDG-Ij
Carbohydrate deficient glycoprotein syndrome type Ij
Number of Symptoms 42
OrphanetNr: 86309
OMIM Id: 608093
ICD-10: E77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 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 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: Sort by abundance 

1
 (HPO:0008689) Bilateral cryptorchidism 38 / 7739
2
 (HPO:0000028) Cryptorchidism rare [HPO:skoehler] 347 / 7739
3
 (HPO:0000347) Micrognathia 426 / 7739
4
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
5
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
6
 (HPO:0000577) Exotropia 43 / 7739
7
 (HPO:0000486) Strabismus 576 / 7739
8
 (HPO:0000639) Nystagmus 555 / 7739
9
 (HPO:0000518) Cataract 454 / 7739
10
 (HPO:0001263) Global developmental delay 853 / 7739
11
 (HPO:0001347) Hyperreflexia 363 / 7739
12
 (HPO:0001337) Tremor rare [HPO:skoehler] 200 / 7739
13
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
14
 (HPO:0000718) Aggressive behavior rare [HPO:skoehler] 109 / 7739
15
 (HPO:0001249) Intellectual disability 1089 / 7739
16
 (HPO:0003186) Inverted nipples 15 / 7739
17
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
18
 (HPO:0001371) Flexion contracture rare [HPO:skoehler] 220 / 7739
19
 (HPO:0000954) Single transverse palmar crease 162 / 7739
20
 (HPO:0000952) Jaundice rare [HPO:skoehler] 105 / 7739
21
 (HPO:0002910) Elevated hepatic transaminases rare [HPO:skoehler] 158 / 7739
22
 (HPO:0010781) Skin dimples 5 / 7739
23
 (HPO:0001903) Anemia 289 / 7739
24
 (HPO:0001976) Reduced antithrombin III activity rare [HPO:skoehler] 10 / 7739
25
 (HPO:0003642) Type I transferrin isoform profile 16 / 7739
26
 (HPO:0003075) Hypoproteinemia rare [HPO:skoehler] 27 / 7739
27
 (HPO:0002104) Apnea rare [HPO:skoehler] 106 / 7739
28
 (HPO:0002093) Respiratory insufficiency rare [HPO:skoehler] 410 / 7739
29
 (HPO:0010547) Muscle flaccidity 466 / 7739
30
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
31
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
32
 (HPO:0001324) Muscle weakness 859 / 7739
33
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
34
 (HPO:0003828) Variable expressivity 130 / 7739
35
 (MedDRA:10003497) Asphyxia 2 / 7739
36
 (OMIM) Dysmorphic features 6 / 7739
37
 (HPO:0003577) Congenital onset 133 / 7739
38
 (OMIM) Prolonged APPT (in 1 patient) 2 / 7739
39
 (OMIM) Fetal fat pads 1 / 7739
40
 (OMIM) Hypertonia of extremities 1 / 7739
41
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
42
 (OMIM) Skin dimples on upper thighs (1 patient) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Like all CDGs, which are caused by a shortage of precursor monosaccharide phosphate or deficiencies in the glycosyltransferases required for lipid-linked oligosaccharide precursor (LLO) synthesis, CDG Ij is caused by a defect in the formation of DPAGT1, the ...
Clinical Description OMIM Wu et al. (2003) described a novel form of CDG, which they designated CDG Ij, in a patient who had developed infantile spasms at the age of 4 months within 72 hours of receiving DPT immunization. Development was ...
Molecular genetics OMIM In a patient with CDG Ij, Wu et al. (2003) identified a tyr170-to-cys mutation (Y170C; 191350.0001) in the DPAGT1 gene on the paternal allele. No mutation was found on the maternal allele, but it produced only 12% of ...