Rare Rheumatology News
Advertisement
Disease Profile
Dyskeratosis congenita X-linked
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.
#N/A
Age of onset
#N/A
ICD-10
#N/A
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)
X-linked Dyskeratosis congenita; DKCX
Categories
Blood Diseases; Congenital and Genetic Diseases; Eye diseases;
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
|
---|---|---|
5%-29% of people have these symptoms | ||
0001251 | ||
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ] |
0001321 |
1%-4% of people have these symptoms | ||
Global |
0001263 | |
Percent of people who have these symptoms is not available through HPO | ||
Acute myeloid leukemia | 0004808 | |
Alopecia |
Hair loss
|
0001596 |
Anal mucosal leukoplakia | 0005212 | |
Low number of red blood cells or hemoglobin
|
0001903 | |
Blepharitis |
Inflammation of eyelids
|
0000498 |
Bone marrow hypocellularity |
Bone marrow failure
|
0005528 |
Carcinoma | 0030731 | |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Cirrhosis |
Scar tissue replaces healthy tissue in the liver
|
0001394 |
Conjunctivitis |
Pink eye
|
0000509 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Decreased testicular size |
Small testes
Small testis
[ more ] |
0008734 |
Dermal atrophy |
Skin degeneration
|
0004334 |
Epiphora |
Increased tears
Tearing
Watery eyes
[ more ] |
0009926 |
Esophageal stricture |
Narrowing of esophagus due to inflammation and scar tissue
|
0002043 |
Hodgkin lymphoma | 0012189 | |
Horseshoe kidney |
Horseshoe kidneys
|
0000085 |
Hyperhidrosis |
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ] |
0000975 |
Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
Hypospadias | 0000047 | |
Decreased immune function
|
0002721 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Leukopenia |
Decreased blood leukocyte number
Low white blood cell count
[ more ] |
0001882 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Myelodysplasia | 0002863 | |
Nail dystrophy |
Poor nail formation
|
0008404 |
Optic atrophy | 0000648 | |
Oral leukoplakia |
Oral white patch
|
0002745 |
0000939 | ||
Pancytopenia |
Low blood cell count
|
0001876 |
Phimosis | 0001741 | |
Premature graying of hair |
Early graying
Premature graying
Premature greying
Premature hair graying
[ more ] |
0002216 |
Premature loss of teeth |
Early tooth loss
Loss of teeth
Premature teeth loss
Premature tooth loss
[ more ] |
0006480 |
Pterygium | 0001059 | |
Pterygium of nails | 0002165 | |
Pulmonary fibrosis | 0002206 | |
Restrictive ventilatory defect |
Stiff lung or chest wall causing decreased lung volume
|
0002091 |
Reticulated skin pigmentation | 0007427 | |
Ridged nail |
Grooved nails
Nail ridging
[ more ] |
0001807 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Sparse eyelashes |
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ] |
0000653 |
Split nail |
Longitudinal splitting of nail
|
0001809 |
Squamous |
0002860 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Low platelet count
|
0001873 | |
Urethral stenosis |
Narrowing of the urethra
|
0008661 |
0001419 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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
-
Team Telomere
1562 First Ave. #205-4093
New York, NY 10028-4004
Telephone: +1-208-215-1347
E-mail: https://teamtelomere.org/contact/
Website: https://teamtelomere.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
- Genetics Home Reference (GHR) contains information on Dyskeratosis congenita X-linked. This website is maintained by the National Library of Medicine.
- The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.
- 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.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Dyskeratosis congenita X-linked. Click on the link to view a sample search on this topic.