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Disease Profile
Woodhouse Sakati syndrome
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.
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Age of onset
Childhood
ICD-10
Q87.5
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)
Woodhouse-Sakati syndrome; Diabetes-hypogonadism-deafness-intellectual disability syndrome
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases;
Summary
Orpha Number: 3464
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 spermatogenesis | 0008669 | |
Abnormal T-wave | 0005135 | |
Alopecia |
Hair loss
|
0001596 |
Aplasia/Hypoplasia of the eyebrow |
Absence of eyebrow
Lack of eyebrow
Missing eyebrow
[ more ] |
0100840 |
Bilateral sensorineural hearing impairment | 0008619 | |
Choreoathetosis | 0001266 | |
Decreased serum estradiol | 0008214 | |
Decreased serum testosterone level |
Decreased serum testosterone levels
Low serum testosterone level
Low serum testosterone levels
[ more ] |
0040171 |
Decreased testicular size |
Small testes
Small testis
[ more ] |
0008734 |
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] |
0000823 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
Difficulty articulating speech
|
0001260 | |
0001332 | ||
Growth |
0000824 | |
Hyperinsulinemia | 0000842 | |
Hyperlipidemia |
Elevated lipids in blood
|
0003077 |
Decreased activity of gonads
|
0000135 | |
Hypoplasia of the fallopian tube |
Underdeveloped fallopian tube
|
0008697 |
Hypoplasia of the uterus |
Small uterus
Underdeveloped uterus
[ more ] |
0000013 |
Hypothyroidism |
Underactive thyroid
|
0000821 |
Insulin-resistant |
Insulin resistant diabetes
Insulin-resistant diabetes
[ more ] |
0000831 |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 | |
Mental deterioration |
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ] |
0001268 |
Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
Osteopenia | 0000938 | |
Premature ovarian insufficiency |
Early menopause
Premature menopause
Premature ovarian failure
[ more ] |
0008209 |
Protruding ear |
Prominent ear
Prominent ears
[ more ] |
0000411 |
Streak ovary | 0010464 | |
5%-29% of people have these symptoms | ||
Anodontia |
Failure of development of all teeth
|
0000674 |
Hallucinations |
Hallucination
Sensory hallucination
[ more ] |
0000738 |
Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ] |
0000426 |
Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ] |
0000448 |
Psychosis | 0000709 | |
Scaling skin |
flaking skin
peeling skin
scaly skin
[ more ] |
0040189 |
Triangular face |
Face with broad temples and narrow chin
Triangular facial shape
[ more ] |
0000325 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of extrapyramidal motor function | 0002071 | |
0000007 | ||
Decreased serum insulin-like growth factor 1 | 0030353 | |
Diabetes mellitus | 0000819 | |
Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ] |
0002213 |
Hypergonadotropic hypogonadism | 0000815 | |
Hypogonadotropic hypogonadism | 0000044 | |
Increased thyroid-stimulating hormone level | 0002925 | |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
Sensorineural hearing impairment | 0000407 | |
Sparse hair | 0008070 |
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
-
American Hair Loss Association
23679 Calabasas Road # 682
Calabasas, CA 91301-1502
E-mail: [email protected]
Website: https://americanhairloss.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
- Genetics Home Reference (GHR) contains information on Woodhouse Sakati syndrome. This website is maintained by the National Library of Medicine.
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 Woodhouse Sakati syndrome. Click on the link to view a sample search on this topic.