Rare Pulmonology News

Disease Profile

OPHN1 syndrome

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)

Oligophrenin-1 syndrome; OPHN1related XLID; OPHN1 XLMR, X-linked intellectual disability;

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

OPHN1 syndrome is a rare disorder characterized by intellectual disability and changes in the part of the brain which controls movement and balance (cerebellum). The syndrome mainly affects males. Signs and symptoms may include intellectual disability, low muscle tone (hypotonia), developmental and cognitive delay, early-onset seizures, abnormal behavior, small or underdeveloped genitals, characteristic facial features (long face, bulging forehead, under eye creases, deep set eyes, and large ears), crossed eyes (strabismus) and inability to coordinate movements.[1][2] A small cerebellum and large brain ventricles can be seen on brain imaging (MRI).[1][3][4] Treatment is supportive and includes physical, occupational and speech and language therapy.[5]

OPHN1 syndrome is caused by mutations in the OPHN1 gene, which is located on the X chromosome. Inheritance is X-linked.[1] Some females who carry a mutation in the OPHN1 gene may have mild learning disabilities, mild cognitive impairment, strabismus, and subtle facial changes.[1][3][4]

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
Cerebellar hypoplasia
Small cerebellum
Underdeveloped cerebellum

[ more ]

0001321
Global developmental delay
0001263
30%-79% of people have these symptoms
Abnormal facial shape
Unusual facial appearance
0001999
Ataxia
0001251
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye

[ more ]

0000490
Focal impaired awareness seizure
0002384
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Generalized myoclonic seizure
0002123
Intellectual disability, moderate
IQ between 34 and 49
0002342
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation

[ more ]

0010864
Partial absence of cerebellar vermis
0002951
Poor eye contact
0000817
Poor speech
0002465
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Tall chin
Increased height of chin
Long chin

[ more ]

0400000
Ventriculomegaly
0002119
5%-29% of people have these symptoms
Attention deficit hyperactivity disorder
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder

[ more ]

0007018
Caudate atrophy
0002340
Enlarged cisterna magna
0002280
Frontal cortical atrophy
0006913
Intention tremor
0002080
Mandibular prognathia
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw

[ more ]

0000303
Postural instability
Balance impairment
0002172
Prominent nose
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose

[ more ]

0000448
Retrocerebellar cyst
0006951
Temporal cortical atrophy
0007112
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge

[ more ]

0000431
Percent of people who have these symptoms is not available through HPO
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
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
Disorganization of the anterior cerebellar vermis
0007065
Frontal bossing
0002007
Gait ataxia
Inability to coordinate movements when walking
0002066
Hyperactivity
More active than typical
0000752
Hypotelorism
Abnormally close eyes
Closely spaced eyes

[ more ]

0000601
Infantile onset
Onset in first year of life
Onset in infancy

[ more ]

0003593
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face

[ more ]

0000276
Long nose
Elongated nose
Increased height of nose
Increased length of nose
Increased nasal height
Increased nasal length
Nasal elongation

[ more ]

0003189
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Macrotia
Large ears
0000400
Micropenis
Short penis
Small penis

[ more ]

0000054
Microphallus
0030260
Muscular hypotonia
Low or weak muscle tone
0001252
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Prominent forehead
Pronounced forehead
Protruding forehead

[ more ]

0011220
Prominent supraorbital ridges
Prominent brow
0000336
Scrotal hypoplasia
Smaller than typical growth of scrotum
0000046
Seizure
0001250
Short philtrum
0000322
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
X-linked recessive inheritance
0001419

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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

    References

    1. Zanni G & Bertini ES. X-linked disorders with cerebellar dysgenesis. Orphanet Journal of Rare Diseases. 2011; 6:24. https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-6-24.
    2. OPHN1. Genetics Home Reference. 2016; https://ghr.nlm.nih.gov/gene/OPHN1#conditions.
    3. Ginevra Zanni. X-linked intellectual disability-cerebellar hypoplasia syndrome. Orphanet. February 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137831.
    4. Bedeschi MF & cols. Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene. Am J Med Genet A. July, 2008; 146A(13):1718-24. https://www.ncbi.nlm.nih.gov/pubmed/18512229.
    5. OPHN1 therapies. Oligophrenin-1 Syndrome Foundation. https://ophn1.org/ophn1-therapies.

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