OPHN1 syndrome

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Disease Profile

OPHN1 syndrome

#N/A

US Estimated

Europe Estimated

Age of onset

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ICD-10

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Inheritance

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.

X-linked
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)

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

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

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

Oligophrenin-1 Syndrome Foundation
1106 Doyle Place
Mountain View, CA 94040
E-mail: oligophrenin@gmail.com
Website: https://ophn1.org/
ophn1
Italy
Website: https://www.ophn1.it

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

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.
OPHN1. Genetics Home Reference. 2016; https://ghr.nlm.nih.gov/gene/OPHN1#conditions.
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.
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.
OPHN1 therapies. Oligophrenin-1 Syndrome Foundation. https://ophn1.org/ophn1-therapies.

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Organizations Supporting this Disease

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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.

X-linked
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)

Categories

Summary

Symptoms

Organizations

Learn more

In-Depth Information

References

Rare Ophthalmology News

Rare Ophthalmology News

#N/A

#N/A

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.

X-linked 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)

Categories

Summary

Symptoms

Organizations

Organizations Supporting this Disease

Learn more

In-Depth Information

References

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.

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.