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Disease Profile
SLC35A2-CDG
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Infancy
ICD-10
E77.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
CDG syndrome type IIm; CDG-IIm; CDG2M;
Categories
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases
Summary
Orpha Number: 356961
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Global |
0001263 | |
Hypsarrhythmia | 0002521 | |
Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
30%-79% of people have these symptoms | ||
Abnormal facial shape |
Unusual facial appearance
|
0001999 |
Abnormality of the |
Immunological abnormality
|
0002715 |
Abnormality of the respiratory system | 0002086 | |
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Cerebral visual impairment | 0100704 | |
Decreased galactosylation of N-linked |
0012348 | |
Decreased sialylation of O-linked protein glycosylation | 0012363 | |
Delayed myelination | 0012448 | |
Elevated brain N-acetyl aspartate level by MRS | 0025053 | |
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ] |
0001531 |
Inability to walk | 0002540 | |
Infantile spasms | 0012469 | |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Muscular hypotonia of the trunk |
Low muscle tone in trunk
|
0008936 |
Nasogastric tube feeding | 0040288 | |
0002650 | ||
Decreased body height
Small stature
[ more ] |
0004322 | |
5%-29% of people have these symptoms | ||
Anisometropia | 0012803 | |
Atrophy/Degeneration affecting the brainstem | 0007366 | |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Cerebral white matter atrophy | 0012762 | |
Coxa valga | 0002673 | |
0001363 | ||
0011185 | ||
Exotropia |
Outward facing eye ball
|
0000577 |
Gastroesophageal reflux |
Acid reflux
Heartburn
Acid reflux disease
[ more ] |
0002020 |
Hypopigmentation of the skin |
Patchy lightened skin
|
0001010 |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Inverted nipples | 0003186 | |
Metatarsus adductus |
Front half of foot turns inward
|
0001840 |
Paroxysmal involuntary eye movements | 0007704 | |
Precocious puberty |
Early onset of puberty
Early puberty
[ more ] |
0000826 |
Prenatal maternal abnormality | 0002686 | |
Sensorineural hearing impairment | 0000407 | |
Short corpus callosum | 0200012 | |
Spastic tetraparesis | 0001285 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Thickened nuchal skin fold |
Thickened skin folds of neck
Thickened skin over the neck
[ more ] |
0000474 |
1%-4% of people have these symptoms | ||
Abnormal renal morphology |
Abnormally shaped kidney
Kidney malformation
Kidney structure issue
Structural kidney abnormalities
[ more ] |
0012210 |
Abnormality of midbrain morphology |
Abnormal shape of midbrain
Abnormality of the midbrain
[ more ] |
0002418 |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Cortical dysplasia | 0002539 | |
Dandy-Walker malformation | 0001305 | |
Dilation of lateral ventricles | 0006956 | |
Hip subluxation |
Partial hip dislocation
|
0030043 |
Hypoplastic hippocampus |
Small hippocampus
|
0025517 |
Increased circulating thyroglobulin level | 0025484 | |
Increased thyroid-stimulating |
0002925 | |
Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ] |
0001382 |
Osteopenia | 0000938 | |
Short tibia |
Short shinbone
Short skankbone
[ more ] |
0005736 |
Tetralogy of Fallot | 0001636 | |
Transient nephrotic |
0008695 | |
Percent of people who have these symptoms is not available through HPO | ||
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ] |
0001321
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. In-Depth Information
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