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Disease Profile
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
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
Q87.5
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)
Conorenal syndrome; Mainzer Saldino syndrome; Saldino-Mainzer syndrome
Categories
Congenital and Genetic Diseases; Eye diseases; Kidney and Urinary Diseases;
Summary
Orpha Number: 140969
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
|
---|---|---|
30%-79% of people have these symptoms | ||
Cholestasis |
Slowed or blocked flow of bile from liver
|
0001396 |
Hepatomegaly |
Enlarged liver
|
0002240 |
5%-29% of people have these symptoms | ||
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
0001363 | ||
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Short ribs | 0000773 | |
1%-4% of people have these symptoms | ||
Bifid uvula | 0000193 | |
Percent of people who have these symptoms is not available through HPO | ||
Accessory oral frenulum | 0000191 | |
Low number of red blood cells or hemoglobin
|
0001903 | |
0001251 | ||
0000007 | ||
Cone-shaped epiphysis |
Cone-shaped end part of bone
|
0010579 |
Frontal bossing | 0002007 | |
Hepatic fibrosis | 0001395 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hypoplasia of the capital femoral epiphysis |
Small innermost thighbone end part
Underdevelopment of the innermost thighbone end part
[ more ] |
0003090 |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ] |
0000158 |
Microdontia |
Decreased width of tooth
|
0000691 |
Narrow forehead |
Decreased width of the forehead
|
0000341 |
Nephronophthisis | 0000090 | |
Nephropathy | 0000112 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ] |
0011220 |
Renal cyst |
Kidney cyst
|
0000107 |
Renal dysplasia | 0000110 | |
Rod-cone dystrophy | 0000510 | |
Scaphocephaly | 0030799 | |
Short femoral neck |
Short neck of thighbone
|
0100864 |
Short phalanx of finger |
Short finger bones
|
0009803 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Stage 5 chronic |
0003774 | |
Trigonocephaly |
Triangular skull shape
Wedge shaped skull
[ more ] |
0000243 |
Visual loss |
Loss of vision
Vision loss
[ more ] |
0000572 |
Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
Widely spaced teeth |
Wide-spaced teeth
Widely-spaced teeth
[ more ] |
0000687 |
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.
Where to Start
- Genetics Home Reference contains information on Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia. This website is maintained by the National Library of Medicine.
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 Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia. Click on the link to view a sample search on this topic.