Rare Neurology News

Disease Profile

Galloway-Mowat 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

Q04.3

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)

Galloway Mowat syndrome; Galloway syndrome; Microcephaly nephrosis syndrome;

Categories

Congenital and Genetic Diseases; Kidney and Urinary Diseases; Nervous System Diseases

Summary

Galloway-Mowat syndrome is a rare, neurodegenerative disorder characterized by various developmental and physical abnormalities.[1][2] Signs and symptoms may include small head size (microcephaly); developmental delay; seizures; nephrotic syndrome; hiatal hernia; optic atrophy; movement disorders; and intellectual disability.[2][3] Other physical abnormalities may also be present. Galloway-Mowat syndrome may be caused by changes (mutations) in the WDR73 gene and is inherited in an autosomal recessive manner. Other, unknown genes may also be responsible.[4] Affected children often do not survive beyond the first few years of life.[3] Treatment is aimed at the specific signs and symptoms present in each individual.[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
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment

[ more ]

0100543
Global developmental delay
0001263
Hypoplasia of the ear cartilage
Underdeveloped ear cartilage
0100720
Microcephaly
Small head circumference
Reduced head circumference
Decreased size of skull
Decreased circumference of cranium
Abnormally small skull

[ more ]

0000252
Nephropathy
0000112
Nephrotic syndrome
0000100
Proteinuria
High urine protein levels
Protein in urine

[ more ]

0000093
30%-79% of people have these symptoms
EEG abnormality
0002353
Hiatus hernia
Stomach hernia
0002036
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Macrotia
Large ears
0000400
Pachygyria
Fewer and broader ridges in brain
0001302
Premature birth
Premature delivery of affected infants
Preterm delivery

[ more ]

0001622
Seizure
0001250
Short stature
Decreased body height
Small stature

[ more ]

0004322
5%-29% of people have these symptoms
Abnormality of immune system physiology
0010978
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality

[ more ]

0000164
Abnormality of the intervertebral disk
0005108
Adducted thumb
Inward turned thumb
0001181
Aqueductal stenosis
0002410
Ataxia
0001251
Camptodactyly of finger
Permanent flexion of the finger
0100490
Dandy-Walker malformation
0001305
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Hemiplegia/hemiparesis
Paralysis or weakness of one side of body
0004374
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypertonia
0001276
Hypotelorism
Abnormally close eyes
Closely spaced eyes

[ more ]

0000601
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Muscular hypotonia
Low or weak muscle tone
0001252
Spastic tetraplegia
0002510
1%-4% of people have these symptoms
Cerebellar atrophy
Degeneration of cerebellum
0001272
Cerebral atrophy
Degeneration of cerebrum
0002059
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
Dystonia
0001332
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Muscular hypotonia of the trunk
Low muscle tone in trunk
0008936
Optic atrophy
0000648
Sleep disturbance
Difficulty sleeping
Trouble sleeping

[ more ]

0002360
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Camptodactyly
Permanent flexion of the finger or toe
0012385
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Diffuse mesangial sclerosis
0001967
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Flat occiput
0005469
Focal segmental glomerulosclerosis
0000097
Hand clenching
Clenched hands
0001188
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Hyperreflexia
Increased reflexes
0001347
Hypoalbuminemia
Low blood albumin
0003073
Hypopigmentation of the skin
Patchy lightened skin
0001010
Hypoplasia of the brainstem
Small brainstem
Underdeveloped brainstem

[ more ]

0002365
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Hypoplasia of the iris
U

Diagnosis

The Genetic Testing Registry (GTR) provides information about the labs that offer clinical genetic testing for Galloway-Mowat syndrome. While it is known to be caused by mutations in the WDR73 gene, it has been suggested that other, unidentified genes may also be responsible.[4] In some cases, carrier testing for unaffected relatives may only be available if the specific mutation in the affected family member is known. 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.

Social Networking Websites

    Organizations Providing General Support

      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 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

        • 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 Galloway-Mowat syndrome. Click on the link to view a sample search on this topic.

          References

          1. Baple E. Galloway-Mowat Syndrome. National Organization for Rare Disorders (NORD). 2016; https://rarediseases.org/rare-diseases/galloway-mowat-syndrome/.
          2. Galloway-Mowat Syndrome; GAMOS. Online Mendelian Inheritance in Man (OMIM). April 19, 2016; https://www.omim.org/entry/251300.
          3. Pezzella M., Yeghiazaryan NS, Veggiotti P, Bettinelli A, Giudizioso G, Zara F, et. al. Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. Seizure. March, 2010; 19(2):132-135. https://www.seizure-journal.com/article/S1059-1311(09)00245-3/fulltext.
          4. Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB, et. al. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain. August, 2015; 138(Pt 8):2173-2190. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4511861/.

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