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Disease Profile

Cardiomyopathy cataract hip spine disease

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

Adolescent

ICD-10

-

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)

Familial dilated cardiomyopathy associated with cataracts and hip-spine disease; Krasnow Qazi syndrome; Krasnow Qazi Yermakov syndrome

Categories

Congenital and Genetic Diseases; Heart Diseases

Summary

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

Orpha Number: 1345

Definition
Cardiomyopathy cataract hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.

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
Abnormality of the intervertebral disk
0005108
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Platyspondyly
Flattened vertebrae
0000926
Skeletal dysplasia
0002652
30%-79% of people have these symptoms
Abnormal heart valve morphology
0001654
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat

[ more ]

0011675
Avascular necrosis
Death of bone due to decreased blood supply
0010885
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure

[ more ]

0001635
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
Osteoarthritis
Degenerative joint disease
0002758
5%-29% of people have these symptoms
Arterial thrombosis
Blood clot in artery
0004420
Hypertension
0000822
Pulmonary embolism
Blood clot in artery of lung
0002204

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.
  • 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 Cardiomyopathy cataract hip spine disease. Click on the link to view a sample search on this topic.