Rare Pulmonology News
Disease Profile
Multiple sulfatase deficiency
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
Age of onset
Infancy
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.
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)
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
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 | |
|
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
| Global |
0001263 | |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Ichthyosis | 0008064 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
| Mucopolysacchariduria | 0008155 | |
| Neonatal |
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 |
|
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 |
|
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 | |
| 0001250 | ||
| Sensorineural hearing impairment | 0000407 | |
|
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 | ||
|
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 | |
| 0001251 | ||
| 0000007 | ||
| Broad hallux |
Broad big toe
Wide big toe
[ more ] |
0010055 |
| Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
| Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
| 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 |
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 |
|
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
-
MSD Action Foundation
35 Grattan Lodge
Balgriffin
Dublin 13, Ireland
E-mail: info@msdactionfoundation.org
Website: https://www.savingdylan.com/ -
Society for Mucopolysaccharide (MPS) Diseases
MPS House Repton Place White Lion Road
Amersham Buckinghamshire
HP7 9LP
United Kingdom
Telephone: (+44) 0345 389 9901
E-mail: mps@mpssociety.co.uk
Website: https://www.mpssociety.co.uk -
United MSD Foundation
2112 Bienville Blvd. Suite B2
Ocean Springs, MS 39564
E-mail: info@unitedmsdfoundation.org
Website: https://curemsd.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
- The American Society of Gene & Cell Therapy provides information on the treatment of genetic diseases.
- Genetics Home Reference (GHR) contains information on Multiple sulfatase deficiency. 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 Multiple sulfatase deficiency. Click on the link to view a sample search on this topic.
References
- Multiple sulfatase deficiency. Genetics Home Reference (GHR). July 2014; https://ghr.nlm.nih.gov/condition/multiple-sulfatase-deficiency.
- 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.