| Concept UI |
CON00624 (Tree)
|
| Name |
ALG13-CDG
|
| Aliases |
CDG-Is
Congenital Disorder of Glycosylation, Type Is
|
| Disease name: Preferred Term |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Is
|
| Disease name: Preferred Term ABBR |
CDG1S
|
| Disease name: Synonyms (from OMIM and MeSH) |
CDG Is
CDGIs
Congenital disorder of glycosylation type 1S
|
| UMLS CUI |
C3550904
|
| OMIM DATA: Gene |
ALG13
|
| OMIM DATA: Gene Number |
300776
|
| OMIM DATA: Phenotype Number |
300884
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Brain Diseases
- Contracture
- Craniofacial Abnormalities
- Demyelinating Diseases
- Edema
- Eye Diseases
- Feeding and Eating Disorders of Childhood
- Hepatomegaly
- Hereditary Central Nervous System Demyelinating Diseases
- Heredodegenerative Disorders, Nervous System
- Hydrocephalus
- Intracranial Hypertension
- Joint Diseases
- Limb Deformities, Congenital
- Liver Diseases
- Malformations of Cortical Development
- Maxillofacial Abnormalities
- Mental Disorders Diagnosed in Childhood
- Microcephaly
- Muscle Hypotonia
- Musculoskeletal Abnormalities
- Neurobehavioral Manifestations
- Neurodegenerative Diseases
- Neurologic Manifestations
- Neuromuscular Manifestations
- Pathologic Processes
- Respiratory Tract Diseases
- Respiratory Tract Infections
- Seizures
- Signs and Symptoms
- Spinal Curvatures
- Stomatognathic System Abnormalities
- Cranial Nerve Diseases
- Epilepsy
- Eye Diseases, Hereditary
- Foot Deformities, Congenital
- Hand Deformities, Congenital
- Hemorrhage (Bleeding)
- Hypertelorism
- Jaw Abnormalities
- Lower Extremity Deformities, Congenital
- Micrognathism
- Nystagmus, Congenital
- Nystagmus, Pathologic
- Optic Atrophies, Hereditary
- Optic Atrophy
- Optic Nerve Diseases
- Psychomotor Disorders
- Scoliosis
- Upper Extremity Deformities, Congenital
- Craniofacial Dysostosis
|
|
References
|
- Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016.
- Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics.
- Timal S, Hoischen A, Lehle L et al (2012) Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet 21(19):4151-4161.
|
GGDB (Gene Symbol)
Link to the GlycoGene Database |
GLT28D1
|