ALG13-CDG

General Information (adopted from Orphanet):

Synonyms, Signs: CDG1S
CDG Is
Congenital disorder of glycosylation type Is
Congenital disorder of glycosylation type 1s
CDG-Is
CDGIs
CDG syndrome type Is
Number of Symptoms 30
OrphanetNr: 324422
OMIM Id: 300884
ICD-10: E77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked 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
Congenital disorder of glycosylation with hepatic involvement
 -Rare genetic disease
 -Rare hepatic disease
Disorder of protein N-glycosylation
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly 832 / 7739
2
 (HPO:0001999) Abnormal facial shape rare [HPO:skoehler] 169 / 7739
3
 (HPO:0000666) Horizontal nystagmus 32 / 7739
4
 (HPO:0000648) Optic atrophy 238 / 7739
5
 (HPO:0001250) Seizures 1245 / 7739
6
 (HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
7
 (HPO:0007256) Abnormal pyramidal signs rare [HPO:skoehler] 116 / 7739
8
 (HPO:0001263) Global developmental delay 853 / 7739
9
 (HPO:0009473) Joint contracture of the hand 84 / 7739
10
 (HPO:0001371) Flexion contracture rare [HPO:skoehler] 220 / 7739
11
 (HPO:0002240) Hepatomegaly 467 / 7739
12
 (HPO:0003642) Type I transferrin isoform profile 16 / 7739
13
 (HPO:0003160) Abnormal isoelectric focusing of serum transferrin 10 / 7739
14
 (HPO:0012301) Type II transferrin isoform profile 6 / 7739
15
 (HPO:0002719) Recurrent infections 107 / 7739
16
 (HPO:0001324) Muscle weakness 859 / 7739
17
 (HPO:0010547) Muscle flaccidity 466 / 7739
18
 (HPO:0001252) Muscular hypotonia 990 / 7739
19
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
20
 (HPO:0003593) Infantile onset 249 / 7739
21
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
22
 (OMIM) EEG shows hypsarrhythmia 4 / 7739
23
 (OMIM) Refractory seizures 15 / 7739
24
 (OMIM) Swelling of the hands and feet (in 1 patient) 1 / 7739
25
 (HPO:0001334) Communicating hydrocephalus 32 / 7739
26
 (HPO:0000238) Hydrocephalus rare [HPO:skoehler] 278 / 7739
27
 (OMIM) Prolonged APPT (in 1 patient) 2 / 7739
28
 (OMIM) Swelling of the eyelids (in 1 patient) 1 / 7739
29
 (OMIM) Developmental regression after onset of seizures 1 / 7739
30
 (OMIM) Increased bleeding tendency (in 1 patient) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Timal et al. (2012) reported a Caucasian boy with CDG type Is who died at 1 year of age. He had refractory epilepsy with polymorphic seizures, hepatomegaly, swelling of hand, foot, and eyelid, recurrent infections, increased bleeding tendency, ...
Molecular genetics OMIM In a Caucasian boy with congenital disorder of glycosylation type Is, Timal et al. (2012) identified a mutation in the ALG13 gene (K94E; 300776.0001). The mutation was identified by exome sequencing and confirmed by Sanger sequencing. The ALG13 ...