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Disease Profile
Joubert syndrome with oculorenal anomalies
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.
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Age of onset
Infancy
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.
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.
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.
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)
Arima syndrome; Cerebro-oculo-hepato-renal syndrome; Dekaban Arima syndrome;
Categories
Congenital and Genetic Diseases; Eye diseases; Kidney and Urinary Diseases;
Summary
Orpha Number: 2318
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 | |
0001251 | ||
Cerebellar vermis hypoplasia | 0001320 | |
Global |
0001263 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Molar tooth sign on |
0002419 | |
Muscular |
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 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
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 |
0007370 | |
Encephalocele | 0002084 | |
Foot |
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 |
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 |
0002650 | ||
0001250 | ||
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 | |
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 |
0003774 | |
Tubulointerstitial fibrosis | 0005576 | |
Undetectable electroretinogram |
OrganizationsSupport 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 moreThese 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
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