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Disease Profile

Autosomal dominant intellectual disability 49

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.

Unknown

Age of onset

#N/A

ICD-10

#N/A

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)

TRIP12 mutations; TRIP12 mutation

Summary

Autosomal dominant intellectual disability 49 is a rare disorder characterized by delayed neurologic development, mild intellectual disability, and learning difficulties.[1][2] In many cases, autistic features or behavioral abnormalities are also present. Additional symptoms may include low muscle tone; delayed speech; seizures; crossed eyes (strabismus); distinctive facial features (such as up-slanting palpebral fissures and a wide, down-turning mouth); and mild abnormalities of the hands or feet. No internal organ abnormalities have been described.[2][3] This disorder is caused by pathogenic variants (mutations) in the TRIP12  gene. Inheritance is autosomal dominant, but most cases are sporadic, occurring for the first time in a person with no family history of the disorder. Treatment aims to address the symptoms present in each person.[2]

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
1%-4% of people have these symptoms
Obesity
Having too much body fat
0001513
Seizure
0001250
Percent of people who have these symptoms is not available through HPO
Abnormal facial shape
Unusual facial appearance
0001999
Aggressive behavior
Aggression
Aggressive behaviour
Aggressiveness

[ more ]

0000718
Autosomal dominant inheritance
0000006
Clinodactyly
Permanent curving of the finger
0030084
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay

[ more ]

0000750
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
Downturned corners of mouth
Downturned corners of the mouth
Downturned mouth

[ more ]

0002714
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Global developmental delay
0001263
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Hyperactivity
More active than typical
0000752
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Long philtrum
0000343
Narrow palpebral fissure
Small opening between the eyelids
0045025
Sandal gap
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe

[ more ]

0001852
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
0000582
Wide mouth
Broad mouth
Large mouth

[ more ]

0000154

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

  • RareConnect has an online community for Autosomal dominant intellectual disability 49. RareConnect is a platform where rare disease patients, families and patient organizations can develop online communities and conversations across continents and languages. RareConnect partners with the world's leading rare disease patient groups to offer global online communities allowing people to connect around issues which affect them while living with a rare 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

  • 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. 

References

  1. Autosomal Dominant Mental Retardation 49; MRD49. OMIM. 2017; https://www.omim.org/entry/617752.
  2. Bramswig NC, Lüdecke H-J, Pettersson M, et al.. Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. Human Genetics. 2017; 136(2):179-192. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5821420/.
  3. Zhang J, Gambin T, Yuan B, et al. Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Human genetics. 2017; 136(4):377-386. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5543723/.