Disease Profile

Alpha-thalassemia x-linked intellectual disability syndrome

Prevalence ?
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

Infancy

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ICD-10

D56.0

Inheritance

Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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

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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.

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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.

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Not applicable

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Other Names (AKA)

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

Categories

Blood Diseases; Congenital and Genetic Diseases; Endocrine Diseases;

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

  1. Stevenson RE. Alpha-thalassemia x-linked intellectual disability syndrome. GeneReviews. June 2010; https://www.ncbi.nlm.nih.gov/books/NBK1449/. Accessed 9/28/2012.