| Concept UI |
CON00625 (Tree)
|
| Name |
PGM1-CDG
|
| Aliases |
CDG-It
Congenital Disorder of Glycosylation, Type It
|
| Disease name: Preferred Term |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It
|
| Disease name: Preferred Term ABBR |
CDG1T
|
| Disease name: Synonyms (from OMIM and MeSH) |
CDG It
Congenital disorder of glycosylation type 1T
CDGIt
|
| UMLS CUI |
C3554056
|
| UMLS SAB |
MeSH (SCR)
|
| UMLS CODE |
C567859
|
| OMIM DATA: Gene |
PGM1
|
| OMIM DATA: Gene Number |
171900
|
| OMIM DATA: Phenotype Number |
614921
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Brain Diseases
- Cardiovascular Diseases
- Cerebrovascular Disorders
- Digestive System Diseases
- Dyspnea
- Heart Diseases
- Liver Diseases
- Maxillofacial Abnormalities
- Respiration Disorders
- Signs and Symptoms
- Vascular Diseases
- Blood Coagulation Disorders
- Cardiomyopathies
- Cleft Lip
- Cleft Palate
- Coagulation Protein Disorders (Blood Coagulation Factor Deficiencies)
- Embolism and Thrombosis
- Fatigue
- Jaw Abnormalities
- Thrombosis
- Pierre Robin Syndrome
|
|
References
|
- 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.
- 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.
|