| Concept UI |
CON00407 (Tree)
|
| Name |
Ehlers-Danlos syndrome, type VI
|
| Aliases |
Ehlers-Danlos syndrome, kyphoscoliotic type
Nevo syndrome
|
| Disease name: Preferred Term |
EHLERS-DANLOS SYNDROME, TYPE VI
|
| Disease name: Preferred Term ABBR |
EDS6
|
| Disease name: Synonyms (from OMIM and MeSH) |
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE
EDS VI
EHLERS-DANLOS SYNDROME, TYPE VIA, FORMERLY
NEVO SYNDROME
EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE
EDS6A, FORMERLY
Ehlers-Danlos syndrome, type 6
|
| UMLS CUI |
C0268342
|
| UMLS SAB |
MeSH (SCR)
|
| UMLS CODE |
C536198
|
| OMIM DATA: Gene |
PLOD1
|
| OMIM DATA: Gene Number |
153454
|
| OMIM DATA: Phenotype Number |
225400
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Blindness (Vision loss)
- Contracture
- Corneal Diseases
- Craniofacial Abnormalities
- Edema
- Eye Diseases
- Gait Disorders, Neurologic
- Glaucoma
- Growth Disorders
- Heart Diseases
- Heart Failure (Cardiac Failure)
- Heart Valve Diseases
- Hematologic Diseases
- Hemorrhagic Disorders
- Hernia, Abdominal
- Hernia, Inguinal
- Hip Dislocation, Congenital
- Joint Diseases
- Kyphosis
- Maxillofacial Abnormalities
- Mental Disorders Diagnosed in Childhood
- Mobility Limitation
- Motor Skills Disorders
- Muscle Hypotonia
- Muscle Weakness
- Muscular Atrophy (Muscle wasting)
- Muscular Diseases
- Musculoskeletal Abnormalities
- Musculoskeletal Diseases
- Neurologic Manifestations
- Neuromuscular Manifestations
- Ocular Hypertension
- Pathologic Processes
- Pathological Conditions, Anatomical
- Peripheral Nervous System Diseases
- Retinal Diseases
- Signs and Symptoms
- Skin Abnormalities
- Spinal Curvatures
- Spinal Diseases
- Stomatognathic System Abnormalities
- Vascular Diseases
- Vision Disorders
- Aneurysm
- Aneurysm, Dissecting
- Aneurysm, Ruptured
- Clubfoot (Congenital talipes equinovarus)
- Collagen Diseases
- Corneal Dystrophies, Hereditary
- Dislocations (Joint dislocations)
- Ehlers-Danlos Syndrome
- Esotropia
- Eye Diseases, Hereditary
- Foot Deformities, Congenital
- Hemostatic Disorders
- Joint Instability
- Myopia
- Polyneuropathy
- Reflex, Abnormal
- Refractive Errors
- Retinal Detachment
- Rupture, Spontaneous
- Scoliosis
- Strabismus
- Tooth Abnormalities
- Wounds and Injuries
- Skin Diseases, Genetic
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|
References
|
- Wopereis S, Lefeber DJ, Morava E, Wevers RA (2006) Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review. Clin Chem 52(4):574-600.
- Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551.
- Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462.
- Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583.
- 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.
|
GDGDB (ID)
Link to the Glyco-Disease Genes Database |
111
109
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