ALG3-CDG

General Information (adopted from Orphanet):

Synonyms, Signs: CDGS4, FORMERLY
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE IV, FORMERLY
CDGS, TYPE IV, FORMERLY
CDG1D
CDG-Id
Carbohydrate deficient glycoprotein syndrome type Id
CDG Id
Congenital disorder of glycosylation type Id
Congenital disorder of glycosylation type 1d
CDG syndrome type Id
CDGId
Mannosyltransferase 6 deficiency
Number of Symptoms 48
OrphanetNr: 79321
OMIM Id: 601110
ICD-10: E77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 10 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:0005280) Depressed nasal bridge 381 / 7739
2
 (HPO:0000414) Bulbous nose 63 / 7739
3
 (HPO:0000218) High palate 356 / 7739
4
 (HPO:0000193) Bifid uvula 66 / 7739
5
 (HPO:0000431) Wide nasal bridge 290 / 7739
6
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
7
 (HPO:0000286) Epicanthus 371 / 7739
8
 (HPO:0000478) Abnormality of the eye Very frequent [Orphanet] 126 / 7739
9
 (HPO:0000648) Optic atrophy 238 / 7739
10
 (HPO:0001141) Severe visual impairment 11 / 7739
11
 (HPO:0000486) Strabismus 576 / 7739
12
 (HPO:0000654) Decreased light- and dark-adapted electroretinogram amplitude 17 / 7739
13
 (HPO:0000612) Iris coloboma 116 / 7739
14
 (HPO:0000400) Macrotia 108 / 7739
15
 (HPO:0001347) Hyperreflexia 363 / 7739
16
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
17
 (HPO:0002521) Hypsarrhythmia 43 / 7739
18
 (HPO:0001276) Hypertonia 317 / 7739
19
 (HPO:0001263) Global developmental delay 853 / 7739
20
 (HPO:0009473) Joint contracture of the hand 84 / 7739
21
 (HPO:0001371) Flexion contracture 220 / 7739
22
 (HPO:0001864) Clinodactyly of the 5th toe 6 / 7739
23
 (HPO:0001181) Adducted thumb 31 / 7739
24
 (HPO:0100807) Long fingers 23 / 7739
25
 (HPO:0001762) Talipes equinovarus 309 / 7739
26
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
27
 (HPO:0002014) Diarrhea 225 / 7739
28
 (HPO:0011473) Villous atrophy 14 / 7739
29
 (HPO:0002013) Vomiting 191 / 7739
30
 (HPO:0001508) Failure to thrive 454 / 7739
31
 (HPO:0002164) Nail dysplasia 82 / 7739
32
 (HPO:0001792) Small nail 55 / 7739
33
 (HPO:0012537) Food intolerance 2 / 7739
34
 (HPO:0012301) Type II transferrin isoform profile 6 / 7739
35
 (HPO:0003160) Abnormal isoelectric focusing of serum transferrin 10 / 7739
36
 (HPO:0003642) Type I transferrin isoform profile 16 / 7739
37
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
38
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
39
 (OMIM) Broad, flat bridge 1 / 7739
40
 (MedDRA:10058668) Clinodactyly 91 / 7739
41
 (HPO:0002059) Cerebral atrophy 171 / 7739
42
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
43
 (OMIM) Hypoglycosylation of plasma glycoproteins 1 / 7739
44
 (OMIM) Small, dysplastic nails 1 / 7739
45
 (OMIM) Electroretinography (ERG) shows decreased amplitudes 1 / 7739
46
 (OMIM) Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase deficiency 1 / 7739
47
 (HPO:0001272) Cerebellar atrophy 197 / 7739
48
 (HPO:0000007) Autosomal recessive inheritance 2538 / 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. Type I CDGs comprise defects in the ...
Clinical Description OMIM Stibler et al. (1995) described 2 unrelated infants with a clinically and biochemically novel form of carbohydrate-deficient glycoprotein syndrome. The first patient was a German boy and the second a Turkish girl born to first-cousin parents. Both children ...
Molecular genetics OMIM In a patient with CDG Id reported by Stibler et al. (1995), Korner et al. (1999) identified a homozygous mutation in the ALG3 gene (608750.0001).

In an Italian patient with CDG Id, Denecke et al. (2004) ...