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Disease Profile
SLC35C1-CDG (CDG-IIc)
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
Childhood
ICD-10
D84.8
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 2C; CDG2C; Leukocyte adhesion deficiency type 2;
Categories
Congenital and Genetic Diseases; Immune System Diseases; Metabolic disorders;
Summary
Orpha Number: 99843
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 | ||
Abnormal isohemagglutinin level |
Abnormal level of natural antibody to blood group agents
Abnormal natural antibody level to blood group antigens in blood (isohemagglutinin)
[ more ] |
0410292 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Leukocytosis |
Elevated white blood count
High white blood count
Increased blood leukocyte number
[ more ] |
0001974 |
Neutrophilia |
Increased blood neutrophil counts
|
0011897 |
Decreased body height
Small stature
[ more ] |
0004322 | |
30%-79% of people have these symptoms | ||
Autistic behavior | 0000729 | |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Microcytic |
0001935 | |
Recurrent fever |
Episodic fever
Increased body temperature, episodic
Intermittent fever
[ more ] |
0001954 |
0001250 | ||
Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ] |
0002360 |
Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ] |
0001518 |
5%-29% of people have these symptoms | ||
0001251 | ||
Broad eyebrow |
Broad eyebrows
Flared eyebrow
Increased vertical height of eyebrow
Increased vertical thickness of eyebrow
[ more ] |
0011229 |
Broad palm |
Broad hand
Broad hands
Wide palm
[ more ] |
0001169 |
Chronic diarrhea | 0002028 | |
Chronic lymphocytic |
0007041 | |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
Deep philtrum | 0002002 | |
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 |
Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ] |
0000457 |
Esodeviation | 0020045 | |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Gingival overgrowth |
Gum enlargement
|
0000212 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hyperreflexia |
Increased reflexes
|
0001347 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypoplasia of the frontal lobes |
Underdeveloped frontal lobe
|
0007333 |
Impaired tandem gait |
Clumsy tandem walking
|
0031629 |
Keratitis |
Corneal inflammation
|
0000491 |
Limb undergrowth |
limb shortening
Short limb
Short limbs
[ more ] |
0009826 |
Long eyelashes |
Increased length of eyelashes
Unusually long eyelashes
[ more ] |
0000527 |
Long upper lip |
Elongation of upper lip
Increased height of upper lip
Increased vertical length of upper lip
[ more ] |
0011341 |
Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ] |
0000294 |
Lower limb hypertonia | 0006895 | |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] |
0000303 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Microtia |
Small ears
Underdeveloped ears
[ more ] |
0008551 |
Narrow palate |
Narrow roof of mouth
|
0000189 |
Overlapping toe |
Overlapping toes
Overriding toes
[ more ] |
0001845 |
Palpebral edema |
Fullness of eyelids
Puffy eyelids
Puffy lids
Swelling of eyelids
[ more ] |
0100540 |
Premature loss of teeth |
Early tooth loss
Loss of teeth
Premature teeth loss
Premature tooth loss
[ more ] |
0006480 |
Protruding tongue |
Prominent tongue
Tongue sticking out of mouth
[ more ] |
0010808 |
Recurrent gastroenteritis | 0031123 | |
Recurrent otitis media |
Recurrent middle ear infection
|
0000403 |
Recurrent pneumonia | 0006532 | |
Recurrent urinary tract infections |
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ] |
0000010 |
Scarring | 0100699 | |
Severe periodontitis | 0000166 |