Disease Profile

HSD10 disease

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of Onset

Neonatal

ICD-10

E72.8

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)

HSD10 deficiency; 3H2MBD deficiency; 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency;

Categories

Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases;

Summary

HSD10 disease (also known as 2-methyl-3-hydroxybutyric aciduria) is an inherited disorder in which the body cannot effectively process the amino acid isoleucine. Signs and symptoms of this condition usually develop in infancy or early childhood and include metabolic acidosis, hypoglycemia, hypotonia, seizures, movement problems, retinal degeneration, and hearing loss. Affected males have severe neurodegeneration with loss of developmental milestones, whereas females have mild to moderate developmental delay. HSD10 disease is caused by mutations in the HSD17B10 gene; it has an X-linked dominant pattern of inheritance.[1][2]

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 urinary acylglycine profile
0012073
30%-79% of people have these symptoms
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay

[ more ]

0000750
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood

[ more ]

0002376
Elevated urinary 3-hydroxybutyric acid
0040155
Global developmental delay
0001263
Intellectual disability, moderate
IQ between 34 and 49
0002342
Progressive visual loss
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive

[ more ]

0000529
Seizure
0001250
Specific learning disability
0001328
5%-29% of people have these symptoms
Abnormal social behavior
Abnormal social behaviour
0012433
Ataxia
0001251
Autistic behavior
0000729
Choreoathetosis
0001266
Chronic lactic acidosis
0004925
Dysarthria
Difficulty articulating speech
0001260
Focal white matter lesions
0007042
Frontotemporal cerebral atrophy
0006892
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait

[ more ]

0001288
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Infantile muscular hypotonia
Decreased muscle tone in infant
0008947
Myoclonus
0001336
Optic atrophy
0000648
Short attention span
Poor attention span
Problem paying attention

[ more ]

0000736
1%-4% of people have these symptoms
Drooling
Dribbling
0002307
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Gastrointestinal dysmotility
0002579
Hyperreflexia
Increased reflexes
0001347
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Nasogastric tube feeding in infancy
0011470
Nonprogressive encephalopathy
0007030
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Postnatal growth retardation
Growth delay as children
0008897
Rigidity
Muscle rigidity
0002063
Spastic paraparesis
0002313
Tremor
0001337
Ventriculomegaly
0002119
Percent of people who have these symptoms is not available through HPO
Abnormal mitochondrial morphology
0008322
Aggressive behavior
Aggression
Aggressive behaviour
Aggressiveness

[ more ]

0000718
Agitation
0000713
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
0002120
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Hypoglycemia
Low blood sugar
0001943
Infantile onset
Onset in first year of life
Onset in infancy

[ more ]

0003593
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Lactic acidosis
Increased lactate in body
0003128
Metabolic acidosis
0001942
Muscular hypotonia
Low or weak muscle tone
0001252
Progressive neurologic deterioration
Worsening neurological symptoms
0002344
Restlessness
0000711
Retinal degeneration
Retina degeneration
0000546
Sensorineural hearing impairment
0000407
Spastic tetraplegia
0002510
Visual loss
Loss of vision
Vision loss

[ more ]

0000572
X-linked dominant inheritance
0001423

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.

    Newborn Screening

    • The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.
    • An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics.
    • An Algorithm flowchart is available for this condition for determining the final diagnosis in an infant with a positive newborn screening result. Algorithms are developed by experts in collaboration with the American College of Medical Genetics.

      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

        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

          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.
          • 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.

            References

            1. 17ß-hydroxysteroid dehydrogenase type 10 deficiency. Genetics Home Reference. October 2009; https://ghr.nlm.nih.gov/condition=17betahydroxysteroiddehydrogenasetype10deficiency. Accessed 3/24/2010.
            2. 2M3HBA 2-Methyl-3-hydroxybutyric aciduria. Newborn Screening Coding and Terminology Guide. December 19, 2008; https://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/2M3HBA. Accessed 3/24/2010.