| Concept UI |
CON00622 (Tree)
|
| Name |
SRD5A3-CDG
|
| Aliases |
Congenital Disorder of Glycosylation, Type Iq
CDG-Iq
Ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities
|
| Disease name: Preferred Term |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq
|
| Disease name: Preferred Term ABBR |
CDG1Q
|
| Disease name: Synonyms (from OMIM and MeSH) |
CDG Iq
Congenital disorder of glycosylation type 1Q
Ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities
CDGIq
COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES
|
| UMLS CUI |
C3150191
|
| UMLS SAB |
MeSH (SCR)
|
| UMLS CODE |
C567328
|
| OMIM DATA: Gene |
SRD5A3
|
| OMIM DATA: Gene Number |
611715
|
| OMIM DATA: Phenotype Number |
612379
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Anemia
- Ataxia
- Blindness (Vision loss)
- Brain Diseases
- Cardiovascular Abnormalities
- Cardiovascular Diseases
- Cataract
- Central Nervous System Diseases
- Craniofacial Abnormalities
- Developmental Disabilities
- Digestive System Diseases
- Dyskinesias
- Endocrine System Diseases
- Eye Abnormalities
- Eye Diseases
- Heart Defects, Congenital
- Heart Diseases
- Hematologic Diseases
- Heredodegenerative Disorders, Nervous System
- Ichthyosis
- Intellectual Disability (Mental Retardation)
- Kyphosis
- Lens Diseases
- Liver Diseases
- Maxillofacial Abnormalities
- Mental Disorders Diagnosed in Childhood
- Motor Skills Disorders
- Movement Disorders
- Muscle Hypotonia
- Nervous System Diseases
- Nervous System Malformations
- Neurobehavioral Manifestations
- Neurodegenerative Diseases
- Neuromuscular Manifestations
- Skin Abnormalities
- Skin Diseases
- Spinal Curvatures
- Stomatognathic System Abnormalities
- Vision Disorders
- Cranial Nerve Diseases
- Blood Coagulation Disorders
- Cerebellar Diseases
- Coagulation Protein Disorders (Blood Coagulation Factor Deficiencies)
- Coloboma
- Eye Diseases, Hereditary
- Hair Diseases
- Nystagmus, Congenital
- Nystagmus, Pathologic
- Optic Atrophies, Hereditary
- Optic Atrophy
- Optic Nerve Diseases
- Skin Diseases, Genetic
- Hypertrichosis
|
|
References
|
- 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.
- 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.
- Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317.
- Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation.
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