Rare Gastroenterology News

Disease Profile

Multiple sulfatase deficiency

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

Infancy

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ICD-10

E75.2

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)

MSD; Juvenile sulfatidosis; Mucosulfatidosis;

Categories

Congenital and Genetic Diseases; Metabolic disorders; Musculoskeletal Diseases;

Summary

Multiple sulfatase deficiency is a lysosomal storage disorder that mainly affects the brain, skin, and skeleton.[1][2] The signs and symptoms of this condition vary widely, prompting researchers to divide it into three types: neonatal, late-infantile, and juvenile. The neonatal type is the most severe form, with symptoms developing soon after birth. The late-infantile type is the most common form and usually presents as progressive loss of mental abilities and movement after a period of normal development. The juvenile type is rare, with a slow regression of psychomotor development in mid to late childhood. Life expectancy is shortened in all types.[1] Multiple sulfatase deficiency is caused by mutations in the SUMF1 gene. It is inherited in an autosomal recessive pattern.[1][2] There is no cure for multiple sulfatase deficiency. Treatment includes physical therapy and supportive services.[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
Abnormality of peripheral nerve conduction
0003134
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood

[ more ]

0002376
Global developmental delay
0001263
Hepatomegaly
Enlarged liver
0002240
Ichthyosis
0008064
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Mucopolysacchariduria
0008155
Neonatal hypotonia
Low muscle tone, in neonatal onset
0001319
Rapid neurologic deterioration
0007307
Splenomegaly
Increased spleen size
0001744
Visual impairment
Impaired vision
Loss of eyesight
Poor vision

[ more ]

0000505
30%-79% of people have these symptoms
Abnormality of retinal pigmentation
0007703
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Broad hallux phalanx
Broad bone of big toe
Wide bone of big toe

[ more ]

0010059
Broad thumb
Broad thumbs
Wide/broad thumb

[ more ]

0011304
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Coarse facial features
Coarse facial appearance
0000280
Coarse hair
Coarse hair texture
0002208
Corneal opacity
0007957
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
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Optic atrophy
0000648
Seizure
0001250
Sensorineural hearing impairment
0000407
Short stature
Decreased body height
Small stature

[ more ]

0004322
Smooth philtrum
0000319
Thick eyebrow
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows

[ more ]

0000574
5%-29% of people have these symptoms
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Percent of people who have these symptoms is not available through HPO
Abnormality of the periventricular white matter
0002518
Ataxia
0001251
Autosomal recessive inheritance
0000007
Broad hallux
Broad big toe
Wide big toe

[ more ]

0010055
Cerebellar atrophy
Degeneration of cerebellum
0001272
Cerebral atrophy
Degeneration of cerebrum
0002059
CNS demyelination
0007305
Dysostosis multiplex
0000943
Flat face
Flat facial shape
0012368
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Hypoplastic vertebral bodies
Underdeveloped back bones
0008479
Increased CSF protein
0002922
Large forehead
Increased size of forehead
0002003
Lower limb hyperreflexia
Overactive lower leg reflex
0002395
Periorbital edema
0100539
Peripheral demyelination
0011096
Prominent forehead
Pronounced forehead
Protruding forehead

[ more ]

0011220
Retinal degeneration
Retina degeneration
0000546
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Ventriculomegaly
0002119

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

      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

        • 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 Multiple sulfatase deficiency. Click on the link to view a sample search on this topic.

          References

          1. Multiple sulfatase deficiency. Genetics Home Reference (GHR). July 2014; https://ghr.nlm.nih.gov/condition/multiple-sulfatase-deficiency.
          2. Guide to Understanding Multiple Sulfatase Deficiency (MSD). Society for Mucopolysaccharide Diseases (MPS Society). https://www.mpssociety.org.uk/media/filer_public/76/fa/76faa371-d1a1-453b-b2c1-7e49b6216ffb/guide-msd-2013.pdf. Accessed 2/24/2016.