Rare Endocrinology News
Disease Profile
Severe intellectual disability-progressive spastic diplegia syndrome
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
G80.1
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)
Intellectual disability, autosomal dominant 19; CTNNB1-related intellectual disability; CTNNB1 syndrome
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Severe
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 facial shape |
Unusual facial appearance
|
0001999 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Motor delay | 0001270 | |
Muscular |
Low muscle tone in trunk
|
0008936 |
Poor speech | 0002465 | |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
30%-79% of people have these symptoms | ||
0011451 | ||
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
5%-29% of people have these symptoms | ||
Abnormal temper tantrums | 0025160 | |
Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ] |
0000718 |
Autistic behavior | 0000729 | |
Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ] |
0000455 |
Delayed |
0002188 | |
Hypermetropia |
Farsightedness
Long-sightedness
[ more ] |
0000540 |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Long philtrum | 0000343 | |
Low hanging columella | 0009765 | |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
Self-injurious behavior |
Self-injurious behaviour
|
0100716 |
Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ] |
0002360 |
Smooth philtrum | 0000319 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Syringomyelia |
Fluid-filled cyst in spinal cord
|
0003396 |
Tethered cord | 0002144 | |
Thin upper lip vermilion |
Thin upper lip
|
0000219 |
Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
Ventriculomegaly | 0002119 | |
1%-4% of people have these symptoms | ||
Exudative vitreoretinopathy | 0030490 | |
Generalized hypopigmentation |
Fair skin
Pale pigmentation
[ more ] |
0007513 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Optic atrophy | 0000648 | |
0001250 | ||
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Global |
0001263 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
Microcephaly |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 |
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 |
Spastic diplegia | 0001264 |
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.
Social Networking Websites
- CTNNB1 syndrome is a closed Facebook group for Severe intellectual disability-progressive spastic diplegia syndrome.
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.
Where to Start
- Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about Severe intellectual disability-progressive spastic diplegia syndrome.
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.
References
- Dubruc E, Putoux A, Labalme A, Rougeot C, Sanlaville D & Edery P. A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. Am. J. Med. Genet. 2014; 164:1571-1575. https://www.medscape.com/medline/abstract/24668549. Accessed 10/12/2015.
- Mental retardation, autosomal dominant 19. OMIM. July 24, 2014; https://omim.org/entry/615075. Accessed 10/12/2015.
- Tucci V & cols. Dominant beta-catenin mutations cause intellectual disability with recognizable syndromic features. J. Clin. Invest. 2014; 124:1468-1482. https://www.ncbi.nlm.nih.gov/pubmed/24614104. Accessed 10/12/2015.
- Kuechler A & cols. De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. Hum Genet. January, 2015; 134(1):97-109. https://www.ncbi.nlm.nih.gov/pubmed/25326669. Accessed 10/12/2015.