ALG12-CDG

General Information (adopted from Orphanet):

Synonyms, Signs: CDG1G
CDG-Ig
Mannosyltransferase 8 deficiency
Carbohydrate deficient glycoprotein syndrome Ig
CDG syndrome type Ig
CDGIg
CDG Ig
Congenital disorder of glycosylation 1g
Congenital disorder of glycosylation Ig
Number of Symptoms 4
OrphanetNr: 79324
OMIM Id: 607143
ICD-10: E77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 11 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital disorder of glycosylation with neurological involvement
 -Rare genetic disease
 -Rare neurologic disease
Disorder of protein N-glycosylation
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000078) Abnormality of the genital system Frequent [Orphanet] 33 / 7739
2
 (HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
3
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
4
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Congenital disorders of glycosylation (CDG), previously called carbohydrate-deficient glycoprotein syndromes (CDGSs), are a group of hereditary multisystem disorders first recognized by Jaeken et al. (1980). The characteristic biochemical abnormality of CDGs is the hypoglycosylation of glycoproteins, which is ...
Clinical Description OMIM Chantret et al. (2002) reported a girl born of nonconsanguineous parents who presented with weak suckling, failure to thrive, hypotonia, psychomotor involvement, microcephaly, facial dysmorphism, and recurrent ear, nose, throat, and respiratory infections. Blood chemistries were normal, except ...
Molecular genetics OMIM Chantret et al. (2002) screened the human ALG12 cDNA from a patient with CDG I and identified a homozygous point mutation that caused an amino acid substitution in a conserved region of the peptide sequence (F142V; 607144.0001). Both ...