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Disease Profile

MBD25–related intellectual disability

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)

Autosomal dominant intellectual disability 1; MBD5 Haploinsufficiency

Summary

MBD25–related intellectual disability, or MBD25 haploinsufficiency, is a neurological and developmental disorder characterized by developmental delayintellectual disability, speech problems, seizures, sleep troubles, and abnormal behaviors. Most children lack speech entirely or may only be able to use single words, short phrases, or short sentences. Seizures are present in about 80% and usually begin around age two years. Sleep troubles, present in about 80% of children, can cause daytime drowsiness. Abnormal behaviors can include autistic-like-behavior (80%) and self-injury and aggression (60%).[1][2] The disorder is caused by mutations or deletions (loss) of the MBD5 gene located on chromosome 2.[3] People who have deletions of chromosome 2q23.1 which only include the MBD5 gene have similar symptoms and features to people with mutations of the MBD5 gene. People with larger deletions may also have ataxia, eating disorders, growth delay, and small hands and feet.[1] These extra features in people with larger deletions are believed to be due to the loss of other genes located near the MBD5 gene on chromosome 2.[1][2] Inheritance is autosomal dominant. Treatment depends on the symptoms and features present in each person.[2]

For a comprehensive review of MBD25 Haploinsufficiency, you can visit GeneReviews. GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

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
Percent of people who have these symptoms is not available through HPO
Abnormality of lower lip
0000178
Aggressive behavior
Aggression
Aggressive behaviour
Aggressiveness

[ more ]

0000718
Astigmatism
Abnormal curving of the cornea or lens of the eye
0000483
Ataxia
0001251
Autosomal dominant inheritance
0000006
Broad forehead
Increased width of the forehead
Wide forehead

[ more ]

0000337
Bulbous nose
0000414
Cupped ear
Cup-shaped ears
Simple, cup-shaped ears

[ more ]

0000378
Downturned corners of mouth
Downturned corners of the mouth
Downturned mouth

[ more ]

0002714
Esotropia
Inward turning cross eyed
0000565
Febrile seizure (within the age range of 3 months to 6 years)
Fever induced seizures
0002373
Feeding difficulties in infancy
0008872
Frontal bossing
0002007
Highly arched eyebrow
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows

[ more ]

0002553
Hypermetropia
Farsightedness
Long-sightedness

[ more ]

0000540
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Language impairment
0002463
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Microtia
Small ears
Underdeveloped ears

[ more ]

0008551
Motor delay
0001270
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness

[ more ]

0000545
Open mouth
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance

[ more ]

0000194
Polyphagia
Voracious appetite
0002591
Postnatal growth retardation
Growth delay as children
0008897
Prominent nose
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose

[ more ]

0000448
Protruding ear
Prominent ear
Prominent ears

[ more ]

0000411
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw

[ more ]

0000278
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
Self-injurious behavior
Self-injurious behaviour
0100716
Short attention span
Poor attention span
Problem paying attention

[ more ]

0000736
Short chin
Decreased height of chin
Short lower third of face

[ more ]

0000331
Short foot
Short feet
Small feet

[ more ]

0001773
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Short stature
Decreased body height
Small stature

[ more ]

0004322
Small hand
Disproportionately small hands
0200055
Thick eyebrow
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows

[ more ]

0000574
Thin upper lip vermilion
Thin upper lip
0000219
Visual impairment
Impaired vision
Loss of eyesight
Poor vision

[ more ]

0000505
Wide mouth
Broad mouth
Large mouth

[ more ]

0000154
Widely spaced teeth
Wide-spaced teeth
Widely-spaced teeth

[ more ]

0000687

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. 
  • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for MBD25–related intellectual disability in a table called Phenotypic Series. Each entry in OMIM includes 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. Talkowski ME & cols. Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder. American Journal of Human Genetics. 2011; 89(4):551-563. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3188839/.
  2. Mullegama SV, Mendoza-Londono R & Elsea SH. MBD5 Haploinsufficiency. GeneReviews. 2016; https://www.ncbi.nlm.nih.gov/books/NBK390803/.
  3. Mental retardation, autosomal dominant. OMIM. 2016; https://www.omim.org/entry/156200#5.