Alpha-thalassemia x-linked intellectual disability syndrome

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Disease Profile

Unknown

US Estimated

Europe Estimated

Age of onset

Infancy

ICD-10

D56.0

Inheritance

Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is caused by a mutation in the ATRX gene and is inherited in an x-linked way. The chance that a relative may have ATRX syndrome depends on whether the mutation in the first affected family member was inherited from his mother or happened by chance (a de novo mutation). If the mutation happened by chance, there is very little risk that other relatives could be affected by this condition. If the mutation was inherited from his mother, each of his mother's sisters has a 50% of being a carrier of ATRX syndrome. If a woman is a carrier of an ATRX mutation, she has a 25% chance of having a son with the mutation who is affected with ATRX syndrome; a 25% chance of having a son who does not have the mutation and does not have ATRX syndrome; a 25% chance of having a daughter with the mutation who is a carrier of ATRX syndrome; and a 25% chance of having a daughter who does not have the mutation and is not a carrier.^[1]

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.

X-linked
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)

Alpha thalassemia intellectual disability syndrome, nondeletion type, X-linked; ATRX syndrome; ATR, nondeletion type;

Summary

Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness (hypotonia), short height, a particular facial appearance, genital abnormalities, and possibly other symptoms. It is caused by mutations in the ATRX gene and is inherited in an x-linked way. Treatment includes regular visits to the doctor to monitor growth and intellectual development, early intervention and special education programs, and special formula to help with feeding and nutrition.^[1]

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 fontanelles		0011328
Ambiguous genitalia	Ambiguous external genitalia Ambiguous external genitalia at birth Intersex genitalia [ more ]	0000062
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Dysphasia		0002357
Flat face	Flat facial shape	0012368
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Male pseudohermaphroditism		0000037
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Profound global developmental delay		0012736
30%-79% of people have these symptoms
Abnormal hemoglobin		0011902
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Autism		0000717
Depressed nasal ridge	Flat nose Recessed nasal ridge [ more ]	0000457
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Everted lower lip vermilion	Drooping lower lip Outward turned lower lip [ more ]	0000232
Hypoplasia of penis	Underdeveloped penis	0008736
Macroglossia	Abnormally large tongue Increased size of tongue Large tongue [ more ]	0000158
Midface retrusion	Decreased size of midface Midface deficiency Underdevelopment of midface [ more ]	0011800
Muscular hypotonia	Low or weak muscle tone	0001252
Seizure		0001250
Short stature	Decreased body height Small stature [ more ]	0004322
Talipes equinovarus	Club feet Club foot Clubfeet Clubfoot [ more ]	0001762
Telecanthus	Corners of eye widely separated	0000506
Tented upper lip vermilion		0010804
Thick lower lip vermilion	Increased volume of lower lip Plump lower lip Prominent lower lip [ more ]	0000179
U-Shaped upper lip vermilion	Carp-like mouth Carp-shaped mouth Fish mouth Large, carp-shaped mouth Wide, carp-shaped mouth [ more ]	0010806
5%-29% of people have these symptoms
Abnormality of movement	Movement disorder Unusual movement [ more ]	0100022
Abnormality of the dentition	Abnormal dentition Abnormal teeth Dental abnormality [ more ]	0000164
Aganglionic megacolon	Enlarged colon lacking nerve cells	0002251
Agenesis of corpus callosum		0001274
Anemia	Low number of red blood cells or hemoglobin	0001903
Blindness		0000618
Brachydactyly	Short fingers or toes	0001156
Cerebral cortical atrophy	Decrease in size of the outer layer of the brain due to loss of brain cells	0002120
Clinodactyly of the 5th finger	Permanent curving of the pinkie finger	0004209
Constipation		0002019
Death in infancy	Infantile death Lethal in infancy [ more ]	0001522
Depressivity	Depression	0000716
Encephalitis	Brain inflammation	0002383
Feeding difficulties in infancy		0008872
Flexion contracture	Flexed joint that cannot be straightened	0001371
Hydronephrosis		0000126
Joint stiffness	Stiff joint Stiff joints [ more ]	0001387
Myopia	Close sighted Near sighted Near sightedness Nearsightedness [ more ]	0000545
Nausea and vomiting		0002017
Optic atrophy		0000648
Recurrent urinary tract infections	Frequent urinary tract infections Repeated bladder infections Repeated urinary tract infections Urinary tract infections Urinary tract infections, recurrent [ more ]	0000010
Self-injurious behavior	Self-injurious behaviour	0100716
Sensorineural hearing impairment		0000407
Spastic paraplegia		0001258
Volvulus		0002580
Percent of people who have these symptoms is not available through HPO
Abnormality of metabolism/homeostasis	Laboratory abnormality Metabolism abnormality [ more ]	0001939
Absent frontal sinuses		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. 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 Alpha-thalassemia x-linked intellectual disability syndrome. This website is maintained by the National Library of Medicine. 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. 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 Alpha-thalassemia x-linked intellectual disability syndrome. Click on the link to view a sample search on this topic. References Stevenson RE. Alpha-thalassemia x-linked intellectual disability syndrome. GeneReviews. June 2010; https://www.ncbi.nlm.nih.gov/books/NBK1449/. Accessed 9/28/2012. Rare Dermatology News Features Rare Disease Profiles 5 Facts Rare IQ Rare Mystery Spotlight On News Contact Us Advertising and Sponsorship About The Rare Medical Network Our mission is to inform the healthcare community about the diagnosis and management of rare diseases. Help us by sharing this important information with your peers. Rare Medical News websites sources information from: Orpha Net, The Genetic and Rare Diseases Information Center (GARD), PubMed and ClinicalTrials.gov. Rare Dermatology News is strictly a news and information website about rare diseases. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. © 2023 Rare Dermatology News. All Rights Reserved. Privacy Policy \| Terms of Service The Rare Medical Network Rare Cardiology News Rare Dermatology News Rare Endocrinology News Rare Gastroenterology News Rare Hematology News Rare Infectious Disease News Rare Immunology News Rare Nephrology/Urology News Rare Neurology News Rare Oncology News Rare Ophthalmology News Rare Pediatrics News Rare Primary Care News Rare Psychiatry News Rare Pulmonology News Rare Rheumatology News

Rare Dermatology News

Rare Dermatology News

Infancy

D56.0

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.

X-linked 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)

Categories

Summary

Symptoms

Diagnosis

Testing Resources

Learn more

Where to Start

In-Depth Information

References

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.

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.