Rare Pulmonology News

Disease Profile

Joubert syndrome with oculorenal anomalies

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

Q04.3

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)

Arima syndrome; Cerebro-oculo-hepato-renal syndrome; Dekaban Arima syndrome;

Categories

Congenital and Genetic Diseases; Eye diseases; Kidney and Urinary Diseases;

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2318

Definition
A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.

Epidemiology
Prevalence is unknown.

Clinical description
Patients present retinal involvement (manifesting with either Leber congenital amaurosis (LCA, see this term), or progressive retinal dystrophy) and nephronophthisis (NPH, usually juvenile). Retinal involvement is present at birth (LCA) or may manifest later in life. Juvenile NPH usually becomes clinically symptomatic towards the late first decade or the early second decade of life.

Etiology
About 50% of patients carry mutations in the CEP290 gene (12q21.33), transmitted in an autosomal recessive manner.

Visit the Orphanet disease page for more resources.

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
Apnea
0002104
Ataxia
0001251
Cerebellar vermis hypoplasia
0001320
Global developmental delay
0001263
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Molar tooth sign on MRI
0002419
Muscular hypotonia
Low or weak muscle tone
0001252
Nephropathy
0000112
Retinal dystrophy
Breakdown of light-sensitive cells in back of eye
0000556
Tachypnea
Increased respiratory rate or depth of breathing
0002789
30%-79% of people have these symptoms
Autistic behavior
0000729
Biparietal narrowing
0004422
Blindness
0000618
Chorioretinal coloboma
Birth defect that causes a hole in the innermost layer at the back of the eye
0000567
Iris coloboma
Cat eye
0000612
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
Low-set, posteriorly rotated ears
0000368
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Ptosis
Drooping upper eyelid
0000508
5%-29% of people have these symptoms
Abnormality of cardiovascular system morphology
0030680
Abnormality of neuronal migration
0002269
Abnormality of the hypothalamus-pituitary axis
0000864
Aganglionic megacolon
Enlarged colon lacking nerve cells
0002251
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Aplasia/Hypoplasia of the corpus callosum
0007370
Encephalocele
0002084
Foot polydactyly
Duplication of bones of the toes
0001829
Hand polydactyly
Extra finger
0001161
Highly arched eyebrow
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows

[ more ]

0002553
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Prominent nasal bridge
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge

[ more ]

0000426
Renal insufficiency
Renal failure
Renal failure in adulthood

[ more ]

0000083
Scoliosis
0002650
Seizure
0001250
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Percent of people who have these symptoms is not available through HPO
Agenesis of cerebellar vermis
0002335
Aplasia/Hypoplasia of the cerebellar vermis
0006817
Autosomal recessive inheritance
0000007
Brainstem dysplasia
0002508
Dilated fourth ventricle
0002198
Dyspnea
Trouble breathing
0002094
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Gray matter heterotopia
0002282
Hepatic fibrosis
0001395
Hepatic steatosis
Fatty infiltration of liver
Fatty liver

[ more ]

0001397
Hepatomegaly
Enlarged liver
0002240
Hypoplasia of the brainstem
Small brainstem
Underdeveloped brainstem

[ more ]

0002365
Intellectual disability, progressive
Mental retardation, progressive
Progressive mental retardation

[ more ]

0006887
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation

[ more ]

0010864
Nephronophthisis
0000090
Occipital meningocele
0002436
Polycystic kidney dysplasia
0000113
Postaxial foot polydactyly
Extra toe attached near the little toe
0001830
Postaxial hand polydactyly
Extra little finger
Extra pinkie finger
Extra pinky finger

[ more ]

0001162
Psychomotor retardation
0025356
Renal corticomedullary cysts
0000108
Renal tubular atrophy
0000092
Stage 5 chronic kidney disease
0003774
Tubulointerstitial fibrosis
0005576
Undetectable electroretinogram

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

    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

    • 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.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Joubert syndrome with oculorenal anomalies. Click on the link to view a sample search on this topic.

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