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Disease Profile

SLC35A2-CDG

Prevalence
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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

CDG syndrome type IIm; CDG-IIm; CDG2M;

Categories

Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 356961

Definition
A rare, congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).

Visit the Orphanet disease page for more resources.

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 developmental delay
0001263
Hypsarrhythmia
0002521
Infantile muscular hypotonia
Decreased muscle tone in infant
0008947
30%-79% of people have these symptoms
Abnormal facial shape
Unusual facial appearance
0001999
Abnormality of the immune system
Immunological abnormality
0002715
Abnormality of the respiratory system
0002086
Cerebellar atrophy
Degeneration of cerebellum
0001272
Cerebral visual impairment
0100704
Decreased galactosylation of N-linked protein glycosylation
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
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation

[ more ]

0010864
Microcephaly
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
Scoliosis
0002650
Short stature
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
Craniosynostosis
0001363
EEG with focal epileptiform discharges
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 corpus callosum
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 hormone level
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 syndrome
0008695
Percent of people who have these symptoms is not available through HPO
Cerebellar hypoplasia
Small cerebellum
Underdeveloped cerebellum

[ more ]

0001321

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.

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