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Disease Profile
Ring chromosome 13
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.
0
Age of onset
Antenatal
ICD-10
Q93.2
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)
Chromosome 13 ring; Ring 13; R13
Categories
Chromosome Disorders; Congenital and Genetic Diseases; Digestive Diseases
Summary
Ring
Signs and symptoms that may be present in a person with ring chromosome 13 include
Ring chromosome 13 typically is not
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 facial shape |
Unusual facial appearance
|
0001999 |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] |
0001510 |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
30%-79% of people have these symptoms | ||
Ambiguous genitalia |
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ] |
0000062 |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Bifid scrotum |
Cleft of scrotum
|
0000048 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypospadias | 0000047 | |
Macrotia |
Large ears
|
0000400 |
Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
Primary hypothyroidism | 0000832 | |
Skeletal dysplasia | 0002652 | |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
5%-29% of people have these symptoms | ||
Abnormal renal physiology |
Abnormal kidney function
Kidney function issue
[ more ] |
0012211 |
Abnormality of skin pigmentation |
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ] |
0001000 |
Abnormality of the incisor | 0000676 | |
Absent foot | 0011301 | |
Alopecia |
Hair loss
|
0001596 |
Anal atresia |
Absent anus
|
0002023 |
Anencephaly | 0002323 | |
Aplasia/Hypoplasia of the thumb |
Absent/small thumb
Absent/underdeveloped thumb
[ more ] |
0009601 |
0000717 | ||
Cafe-au-lait spot | 0000957 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Frontal bossing | 0002007 | |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Partial absence of foot | 0030032 | |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Short neck |
Decreased length of neck
|
0000470 |
Short philtrum | 0000322 | |
Trigonocephaly |
Triangular skull shape
Wedge shaped skull
[ more ] |
0000243 |
Urogenital sinus anomaly | 0100779 | |
1%-4% of people have these symptoms | ||
Abnormality of the coagulation cascade | 0003256 | |
Agenesis of |
0001274 | |
Hypoplasia of the gallbladder | 0005233 | |
Retinoblastoma | 0009919 |
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
-
Chromosome Disorder Outreach (CDO)
PO Box 724
Boca Raton, FL 33429
Telephone: +1-561-395-4252
E-mail: https://chromodisorder.org/contact/
Website: https://chromodisorder.org/ -
Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: info@rarechromo.org
Website: https://www.rarechromo.org/
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
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Unique is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about ring chromosome 13.
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 Ring chromosome 13. Click on the link to view a sample search on this topic.
References
- Ring 13. Unique. 2006; https://www.rarechromo.org/media/information/Chromosome%2013/Ring%2013%20FTNW.pdf.