ALG1-CDG

General Information (adopted from Orphanet):

Synonyms, Signs: CDG1K
Mannosyltransferase 1 deficiency
CDGIk
CDG syndrome type Ik
Congenital disorder of glycosylation type Ik
CDG Ik
Congenital disorder of glycosylation type 1k
CDG-Ik
Carbohydrate deficient glycoprotein syndrome type Ik
Number of Symptoms 36
OrphanetNr: 79327
OMIM Id: 608540
ICD-10: E77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 15 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:0000316) Hypertelorism 644 / 7739
2
 (HPO:0000649) Abnormality of visual evoked potentials 34 / 7739
3
 (HPO:0003642) Type I transferrin isoform profile 16 / 7739
4
 (HPO:0001637) Abnormality of the myocardium 76 / 7739
5
 (HPO:0001638) Cardiomyopathy Frequent [Orphanet] 192 / 7739
6
 (HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
7
 (HPO:0001252) Muscular hypotonia 990 / 7739
8
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
9
 (HPO:0010547) Muscle flaccidity 466 / 7739
10
 (HPO:0001324) Muscle weakness 859 / 7739
11
 (HPO:0001263) Global developmental delay 853 / 7739
12
 (HPO:0001284) Areflexia 198 / 7739
13
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
14
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
15
 (HPO:0000347) Micrognathia 426 / 7739
16
 (HPO:0000239) Large fontanelles 135 / 7739
17
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
18
 (HPO:0001399) Hepatic failure Frequent [Orphanet] 80 / 7739
19
 (HPO:0002240) Hepatomegaly 467 / 7739
20
 (HPO:0001744) Splenomegaly 337 / 7739
21
 (HPO:0001560) Abnormality of the amniotic fluid 7 / 7739
22
 (HPO:0000135) Hypogonadism 89 / 7739
23
 (HPO:0000233) Thin vermilion border 124 / 7739
24
 (HPO:0000112) Nephropathy Frequent [Orphanet] 92 / 7739
25
 (HPO:0001371) Flexion contracture 220 / 7739
26
 (HPO:0001790) Nonimmune hydrops fetalis 15 / 7739
27
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
28
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
29
 (HPO:0002059) Cerebral atrophy 171 / 7739
30
 (HPO:0001522) Death in infancy 275 / 7739
31
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
32
 (OMIM) Multifocal epileptic activity 1 / 7739
33
 (OMIM) Partial blindness (in some) 1 / 7739
34
 (OMIM) Seizures, recurrent, refractory 1 / 7739
35
 (OMIM) Severely decreased activity of beta-1,4-mannosyltransferase (less than 10% of normal) 1 / 7739
36
 (OMIM) Small, turned-up nose 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Congenital disorders of glycosylation (CDGs) comprise a group of multisystem diseases with mostly severe psychomotor and mental retardation. Type I CDG comprises those disorders in which there are defects that affect biosynthesis of dolichol-linked oligosaccharides in the cytosol ...
Clinical Description OMIM Schwarz et al. (2004) described a patient with type I CDG, which they designated CDG Ik. The patient had previously been reported by de Koning et al. (1998). Ultrasound analysis at the thirtieth week of pregnancy revealed nonimmune ...
Molecular genetics OMIM In a patient with CDG Ik, Schwarz et al. (2004) identified a homozygous mutation in the ALG1 gene (S258L; 605907.0001).

In 2 patients with CDG Ik, Kranz et al. (2004) identified mutations in the ALG1 gene ...