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Disease Profile
SRD5A3-CDG (CDG-Iq)
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
Neonatal
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)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq; CDG1Q; COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES;
Categories
Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;
Summary
Orpha Number: 324737
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 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Optic atrophy | 0000648 | |
Type I transferrin isoform profile | 0003642 | |
30%-79% of people have these symptoms | ||
Abnormal facial shape |
Unusual facial appearance
|
0001999 |
0001251 | ||
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Coloboma |
Notched pupil
|
0000589 |
Ichthyosis | 0008064 | |
Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
Microcytic |
0001935 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Optic disc hypoplasia | 0007766 | |
Visual loss |
Loss of vision
Vision loss
[ more ] |
0000572 |
5%-29% of people have these symptoms | ||
Abnormal sacrum morphology | 0005107 | |
Abnormality of cardiovascular system morphology | 0030680 | |
Abnormality of the cerebellar vermis | 0002334 | |
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Growth |
0000824 | |
Hypertrichosis | 0000998 | |
Hypothyroidism |
Underactive thyroid
|
0000821 |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Palmoplantar keratoderma |
Thickening of palms and soles
|
0000982 |
Reduced antithrombin III activity | 0001976 | |
Rod-cone dystrophy | 0000510 | |
0001250 | ||
Spotty hyperpigmentation |
Spotty increased pigmentation
|
0005585 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of skin pigmentation |
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ] |
0001000 |
0000007 | ||
Brachycephaly |
Short and broad skull
|
0000248 |
Cerebellar vermis hypoplasia | 0001320 | |
Cutis laxa |
Loose and inelastic skin
|
0000973 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Eczema | 0000964 | |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Hyperkeratosis | 0000962 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Motor delay | 0001270 | |
Polymicrogyria |
More grooves in brain
|
0002126 |
Organizations
Support 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
-
CDG CARE
PO Box 38832
Colorado Springs, CO 80937
Toll-free: (866) 295-7910
E-mail: info@cdgcare.com
Website: https://cdgcare.com/
Learn more
These 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
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.