Rare Rheumatology News

Disease Profile

COACH 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

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)

Cerebellar vermis hypo/aplasia, Oligophrenia, Ataxia congenital, Coloboma, and Hepatic fibrosis; Joubert syndrome with congenital hepatic fibrosis; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis;

Categories

Congenital and Genetic Diseases; Digestive Diseases; Nervous System Diseases

Summary

COACH syndrome is a condition that mainly affects the brain and liver. Most individuals with COACH syndrome have intellectual disability, liver problems (fibrosis), and difficulty with movement (ataxia). Some may also have an abnormality of the eye (called a coloboma) or abnormal eye movements (such as nystagmus).[1] This condition is inherited in an autosomal recessive manner; 70% of cases are thought to be caused by mutations in the TMEM67 gene. COACH syndrome is considered a rare form of another condition, Joubert syndrome.[2]

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.

Diagnosis

While there are no official guidelines, a diagnosis of COACH syndrome can be made when an individual is found to have both a particular malformation of the brain called cerebellar vermis hypoplasia (also referred to as the "molar tooth sign" due to the characteristic look of this malformation on brain imaging) and liver disease (specifically fibrosis).[3]

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    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 COACH syndrome. Click on the link to view a sample search on this topic.

        References

        1. COACH syndrome. Online Mendelian Inheritance in Man. June 2010; https://omim.org/entry/216360. Accessed 7/26/2012.
        2. Joubert syndrome with hepatic defect. Orphanet. July 2011; https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1644&Disease_Disease_Search_diseaseGroup=COACH&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group of diseases=Joubert-syndrome-with-hepatic-defect--COACH-syndrome-&title=Joubert-syndrome-with-hepatic-defect--COACH-syndrome-&search=Disease_Search_Simple. Accessed 7/26/2012.
        3. Parisi MA. Clinical and molecular features of Joubert syndrome and related disorders. American Journal of Medical Genetics Part C. 2009; 151C:326-340. https://www.ncbi.nlm.nih.gov/pubmed/19876931. Accessed 7/26/2012.

        Rare Rheumatology News

        Medical Terms Other Names
        Learn More:
        HPO ID
        80%-99% of people have these symptoms
        Aplasia/Hypoplasia of the cerebellum
        Absent/small cerebellum
        Absent/underdeveloped cerebellum

        [ more ]

        0007360
        Apnea
        0002104
        Ataxia
        0001251
        Cerebellar vermis hypoplasia
        0001320
        Congenital hepatic fibrosis
        Excessive buildup of connective tissue and scarring of liver at birth
        0002612
        Elevated hepatic transaminase
        High liver enzymes
        0002910
        Hepatomegaly
        Enlarged liver
        0002240
        Intellectual disability, moderate
        IQ between 34 and 49
        0002342
        Intrahepatic biliary atresia
        0005248
        Muscular hypotonia
        Low or weak muscle tone
        0001252
        Oculomotor apraxia
        0000657
        30%-79% of people have these symptoms
        Biparietal narrowing
        0004422
        Chorioretinal coloboma
        Birth defect that causes a hole in the innermost layer at the back of the eye
        0000567
        Feeding difficulties in infancy
        0008872
        Gait disturbance
        Abnormal gait
        Abnormal walk
        Impaired gait

        [ more ]

        0001288
        Hyperreflexia
        Increased reflexes
        0001347
        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
        Nephropathy
        0000112
        Nystagmus
        Involuntary, rapid, rhythmic eye movements
        0000639
        Optic nerve coloboma
        0000588
        Visual impairment
        Impaired vision
        Loss of eyesight
        Poor vision

        [ more ]

        0000505
        5%-29% of people have these symptoms
        Abnormality of neuronal migration
        0002269
        Abnormality of the hypothalamus-pituitary axis
        0000864
        Anteverted nares
        Nasal tip, upturned
        Upturned nasal tip
        Upturned nose
        Upturned nostrils

        [ more ]

        0000463
        Aplasia/Hypoplasia of the corpus callosum
        0007370
        Chronic hepatic failure
        Chronic liver failure
        0100626
        Cirrhosis
        Scar tissue replaces healthy tissue in the liver
        0001394
        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
        Inguinal hernia
        0000023
        Low-set ears
        Low set ears
        Lowset ears

        [ more ]

        0000369
        Macrocephaly
        Increased size of skull
        Large head
        Large head circumference

        [ more ]

        0000256
        Multicystic kidney dysplasia
        0000003
        Neoplasm of the liver
        Liver cancer
        Liver tumor

        [ more ]

        0002896
        Occipital encephalocele
        Brain tissue sticks out through back of skull
        0002085
        Oral cleft
        Cleft of the mouth
        0000202
        Portal hypertension
        0001409
        Postaxial hand polydactyly
        Extra little finger
        Extra pinkie finger
        Extra pinky finger

        [ more ]

        0001162
        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
        Ptosis
        Drooping upper eyelid
        0000508
        Renal insufficiency
        Renal failure
        Renal failure in adulthood

        [ more ]

        0000083
        Scoliosis
        0002650
        Seizure
        0001250
        Splenomegaly
        Increased spleen size
        0001744
        Strabismus
        Cross-eyed
        Squint
        Squint eyes

        [ more ]

        0000486
        Tremor
        0001337
        Percent of people who have these symptoms is not available through HPO
        Abnormal abdomen morphology
        Abnormality of abdomen structure
        0001438
        Aplasia/Hypoplasia of the cerebellar vermis
        0006817
        Autosomal recessive inheritance
        0000007
        Coloboma
        Notched pupil
        0000589
        Generalized hypotonia
        Decreased muscle tone
        Low muscle tone

        [ more ]

        0001290
        Global developmental delay
        0001263
        Growth delay
        Delayed growth
        Growth deficiency
        Growth failure
        Growth retardation
        Poor growth
        Retarded growth

        [ more ]

        0001510
        Hepatic fibrosis
        0001395
        Hypertelorism
        Wide-set eyes
        Widely spaced eyes

        [ more ]

        0000316
        Hypertension
        0000822