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Disease Profile
Chromosome 17q deletion
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.
Unknown
Age of onset
Neonatal
ICD-10
Q93.5
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)
Deletion 17q; Monosomy 17q; 17q deletion;
Categories
Congenital and Genetic Diseases
Summary
Orpha Number: 1597
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 | ||
Abnormal cardiac septum morphology | 0001671 | |
Abnormal form of the vertebral bodies | 0003312 | |
Abnormality of the hip bone |
Abnormality of the hips
|
0003272 |
Abnormality of the metacarpal bones |
Abnormality of the long bone of hand
|
0001163 |
Abnormality of the philtrum | 0000288 | |
Aplasia/Hypoplasia of the thumb |
Absent/small thumb
Absent/underdeveloped thumb
[ more ] |
0009601 |
Aplasia/Hypoplasia of the uvula | 0010293 | |
Bilateral single transverse palmar creases | 0007598 | |
Deviation of finger |
Atypical position of finger
Finger pointing in a different direction than usual
[ more ] |
0004097 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Low-set, posteriorly rotated ears | 0000368 | |
Melanocytic nevus |
Beauty mark
|
0000995 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
Microtia |
Small ears
Underdeveloped ears
[ more ] |
0008551 |
Narrow mouth |
Small mouth
|
0000160 |
Optic atrophy | 0000648 | |
Patent ductus arteriosus | 0001643 | |
Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ] |
0001622 |
Prominent metopic ridge | 0005487 | |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Short thorax |
Shorter than typical length between neck and abdomen
|
0010306 |
Small hand |
Disproportionately small hands
|
0200055 |
Upper limb asymmetry |
Unequal size of arms
|
0100560 |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
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 (GHR) contains information on Chromosome 17q deletion. 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.