Rare Immunology News

Disease Profile

ALG11-CDG (CDG-Ip)

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)

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; CDG1P ; CDG syndrome type Ip;

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: 280071

Definition
A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).

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
Impaired social interactions
Impaired social interaction
Poor social interactions

[ more ]

0000735
Infantile muscular hypotonia
Decreased muscle tone in infant
0008947
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Seizure
0001250
Type I transferrin isoform profile
0003642
30%-79% of people have these symptoms
Abnormal facial shape
Unusual facial appearance
0001999
Abnormality of vision
Abnormality of sight
Vision issue

[ more ]

0000504
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Hyperreflexia
Increased reflexes
0001347
Microcephaly
Small head circumference
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference

[ more ]

0000252
5%-29% of people have these symptoms
Abnormal adipose tissue morphology
Abnormality of adipose tissue
Abnormality of fat tissue
Abnormality of fatty tissue

[ more ]

0009124
Ataxia
0001251
Cerebral atrophy
Degeneration of cerebrum
0002059
Cerebral white matter atrophy
0012762
Decreased corneal reflex
0008000
Delayed myelination
0012448
Dry skin
0000958
EEG with burst suppression
0010851
Elevated hepatic transaminase
High liver enzymes
0002910
Episodic vomiting
0002572
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Gray matter heterotopia
0002282
High forehead
0000348
Hypokinesia
Decreased muscle movement
Decreased spontaneous movement
Decreased spontaneous movements

[ more ]

0002375
Inverted nipples
0003186
Limb hypertonia
Increased muscle tone of arm or leg
0002509
Long philtrum
0000343
Muscular hypotonia of the trunk
Low muscle tone in trunk
0008936
Opisthotonus
0002179
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw

[ more ]

0000278
Scoliosis
0002650
Sensorineural hearing impairment
0000407
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Temperature instability
0005968
Widened subarachnoid space
0012704
Percent of people who have these symptoms is not available through HPO
Absent speech
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal

[ more ]

0001344
Autosomal recessive inheritance
0000007
Infantile onset
Onset in first year of life
Onset in infancy

[ more ]

0003593
Neonatal hypotonia
Low muscle tone, in neonatal onset
0001319
Psychomotor retardation
0025356
Vomiting
Throwing up
0002013

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

    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.