MGAT2-CDG

General Information (adopted from Orphanet):

Synonyms, Signs: ALKURAYA SYNDROME
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE II, FORMERLY
CDGS2, FORMERLY
MENTAL RETARDATION, GROWTH RETARDATION, PROMINENT COLUMELLA, AND OPEN MOUTH
CDG2A
CDGIIa
CDG syndrome type IIa
Congenital disorder of glycosylation type 2a
N-acetylglucosaminyltransferase 2 deficiency
CDG IIa
CDG-IIa
Carbohydrate deficient glycoprotein syndrome type IIa
Congenital disorder of glycosylation type IIa
Number of Symptoms 64
OrphanetNr: 79329
OMIM Id: 212066
ICD-10: E77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital disorder of glycosylation with cardiac malformation as a major feature
 -Rare developmental defect during embryogenesis
 -Rare genetic 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:0000470) Short neck 345 / 7739
2
 (HPO:0000527) Long eyelashes 46 / 7739
3
 (HPO:0010808) Protruding tongue 28 / 7739
4
 (HPO:0000212) Gingival overgrowth 43 / 7739
5
 (HPO:0000426) Prominent nasal bridge 121 / 7739
6
 (HPO:0000232) Everted lower lip vermilion 90 / 7739
7
 (HPO:0000256) Macrocephaly 298 / 7739
8
 (HPO:0000278) Retrognathia 100 / 7739
9
 (HPO:0009765) Low hanging columella 9 / 7739
10
 (HPO:0001572) Macrodontia 9 / 7739
11
 (HPO:0000248) Brachycephaly 222 / 7739
12
 (HPO:0007466) Midfrontal capillary hemangioma 1 / 7739
13
 (HPO:0000194) Open mouth 70 / 7739
14
 (HPO:0000574) Thick eyebrow 96 / 7739
15
 (HPO:0000154) Wide mouth 137 / 7739
16
 (HPO:0000233) Thin vermilion border 124 / 7739
17
 (HPO:0000252) Microcephaly 832 / 7739
18
 (HPO:0000699) Diastema 10 / 7739
19
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
20
 (HPO:0000400) Macrotia 108 / 7739
21
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
22
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
23
 (HPO:0000718) Aggressive behavior 109 / 7739
24
 (HPO:0002317) Unsteady gait 45 / 7739
25
 (HPO:0001250) Seizures 1245 / 7739
26
 (HPO:0000733) Stereotypy 58 / 7739
27
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
28
 (HPO:0000742) Self-mutilation 27 / 7739
29
 (HPO:0010864) Intellectual disability, severe 120 / 7739
30
 (HPO:0001763) Pes planus 176 / 7739
31
 (HPO:0003100) Slender long bone 45 / 7739
32
 (HPO:0002673) Coxa valga 57 / 7739
33
 (HPO:0003423) Thoracolumbar kyphoscoliosis 4 / 7739
34
 (HPO:0009623) Proximal placement of thumb 50 / 7739
35
 (HPO:0001547) Abnormality of the rib cage 25 / 7739
36
 (HPO:0000767) Pectus excavatum 244 / 7739
37
 (HPO:0000938) Osteopenia 138 / 7739
38
 (HPO:0000098) Tall stature Very frequent [Orphanet] 74 / 7739
39
 (HPO:0008897) Postnatal growth retardation 113 / 7739
40
 (HPO:0001508) Failure to thrive 454 / 7739
41
 (HPO:0004322) Short stature 1232 / 7739
42
 (HPO:0001007) Hirsutism rare [HPO:skoehler] 91 / 7739
43
 (HPO:0008070) Sparse hair rare [HPO:skoehler] 94 / 7739
44
 (HPO:0001629) Ventricular septal defect 316 / 7739
45
 (HPO:0004841) Reduced factor XII activity 11228641 IBIS 4 / 7739
46
 (HPO:0011858) Reduced factor IX activity 11228641 IBIS 7 / 7739
47
 (HPO:0001976) Reduced antithrombin III activity 10 / 7739
48
 (HPO:0001929) Reduced factor XI activity 11228641 IBIS 7 / 7739
49
 (HPO:0012301) Type II transferrin isoform profile 6 / 7739
50
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
51
 (HPO:0001290) Generalized hypotonia 51 / 7739
52
 (OMIM) Short terminal phalanges 5 / 7739
53
 (MedDRA:10037005) Protein C decreased 2 / 7739
54
 (OMIM) Hypertonia later 3 / 7739
55
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
56
 (OMIM) Irregular position of the toes 1 / 7739
57
 (OMIM) GlcNAc-transferase II deficiency in fibroblast and mononuclear cells 1 / 7739
58
 (MedDRA:10051120) Protein S decreased 1 / 7739
59
 (OMIM) Hook nose 1 / 7739
60
 (OMIM) Obtuse lower incisor mandibular plane angle 1 / 7739
61
 (OMIM) Malar underdevelopment 1 / 7739
62
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
63
 (OMIM) Thin upper vermilion 3 / 7739
64
 (OMIM) Decreased coagulation factors IX, XI, XII 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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. These glycoconjugates play critical roles in metabolism, ...
Clinical Description OMIM Ramaekers et al. (1991) reported an Iranian child with a form of CDG different from CDG1A, and Jaeken et al. (1993) investigated a Belgian boy, aged 9 years, with remarkably similar findings. In contrast to classic CDG1A, both ...
Molecular genetics OMIM In the Iranian and Belgian patients with CDG2A reported by Jaeken et al. (1994), Tan et al. (1996) identified 2 different homozygous mutations in the MGAT2 gene (602616.0001; 602616.0002), respectively.

In a patient with CDG IIa, ...