ALG11-CDG

General Information (adopted from Orphanet):

Synonyms, Signs: CDG1P
CDG-Ip
Carbohydrate deficient glycoprotein syndrome type Ip
CDG syndrome type 1p
Congenital disorder of glycosylation type 1p
Congenital disorder of glycosylation type Ip
Number of Symptoms 29
OrphanetNr: 280071
OMIM Id: 613661
ICD-10: E77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
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:0000252) Microcephaly rare [HPO:skoehler] 832 / 7739
2
 (HPO:0000348) High forehead rare [HPO:skoehler] 157 / 7739
3
 (HPO:0000486) Strabismus 576 / 7739
4
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
5
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
6
 (HPO:0000407) Sensorineural hearing impairment rare [HPO:skoehler] 524 / 7739
7
 (HPO:0002179) Opisthotonus 35 / 7739
8
 (HPO:0000735) Impaired social interactions 20 / 7739
9
 (HPO:0001250) Seizures 1245 / 7739
10
 (HPO:0001344) Absent speech 57 / 7739
11
 (HPO:0001263) Global developmental delay 853 / 7739
12
 (HPO:0003186) Inverted nipples rare [HPO:skoehler] 15 / 7739
13
 (HPO:0002013) Vomiting 191 / 7739
14
 (HPO:0011968) Feeding difficulties 240 / 7739
15
 (HPO:0003642) Type I transferrin isoform profile 16 / 7739
16
 (HPO:0005968) Temperature instability 5 / 7739
17
 (HPO:0001319) Neonatal hypotonia 101 / 7739
18
 (OMIM) Lack of blink reflex (in some patients) 1 / 7739
19
 (OMIM) Lack of speech 17 / 7739
20
 (OMIM) Peripheral hypertonia 4 / 7739
21
 (OMIM) Poor response to light (in some patients) 1 / 7739
22
 (OMIM) Low hairline 4 / 7739
23
 (OMIM) Recurrent vomiting 1 / 7739
24
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
25
 (OMIM) Accumulation of shortened dolichol-linked oligosaccharides in patient fibroblasts 1 / 7739
26
 (OMIM) Delayed pupillary responses (in some patients) 1 / 7739
27
 (OMIM) Decreased tetrasialo-transferrin 1 / 7739
28
 (HPO:0003593) Infantile onset 249 / 7739
29
 (OMIM) Increased di- and asialo-transferrin 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Rind et al. (2010) reported 2 sibs, born of consanguineous Turkish parents, with a multisystem metabolic disorder characterized by hypotonia, seizures, developmental retardation, and death by age 2 years. The first affected child showed poor feeding, recurrent vomiting, ...
Molecular genetics OMIM In 2 Turkish sibs, born of consanguineous parents, with congenital disorder of glycosylation type Ip, Rind et al. (2010) identified a homozygous mutation (L86S; 613666.0001) in the ALG11 gene.

In 3 unrelated patients with CDG1P, Thiel ...