Rare Cardiology News

Disease Profile

Retinitis pigmentosa-intellectual disability-deafness-hypogonadism 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

Childhood

ageofonset-childhood.svg

ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

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

rnn-autosomalrecessive.svg

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.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Other names (AKA)

Retinitis pigmentosa-intellectual disabilitylabyrinthine deafness-hypogenitalism syndrome; Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 3085

Definition
Retinitis pigmentosa intellectual disability deafness hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome (see this term) by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.

Visit the Orphanet disease page for more resources.

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 retinal pigmentation
0007703
Acanthosis nigricans
Darkened and thickened skin
0000956
Decreased testicular size
Small testes
Small testis

[ more ]

0008734
Gynecomastia
Enlarged male breast
0000771
Hypergonadotropic hypogonadism
0000815
Hyperinsulinemia
0000842
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Sensorineural hearing impairment
0000407
Short stature
Decreased body height
Small stature

[ more ]

0004322
Type II diabetes mellitus
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes

[ more ]

0005978
30%-79% of people have these symptoms
Brachydactyly
Short fingers or toes
0001156
Broad foot
Broad feet
Wide foot

[ more ]

0001769
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Coarse facial features
Coarse facial appearance
0000280
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
Dry skin
0000958
Keloids
0010562
Obesity
Having too much body fat
0001513
Secondary amenorrhea
Previous menstrual periods stop
0000869
Short toe
Short toes
Stubby toes

[ more ]

0001831
Visual impairment
Impaired vision
Loss of eyesight
Poor vision

[ more ]

0000505
5%-29% of people have these symptoms
Cerebellar atrophy
Degeneration of cerebellum
0001272
Hyperlordosis
Prominent swayback
0003307
Kyphosis
Hunched back
Round back

[ more ]

0002808
Polycystic ovaries
0000147
Percent of people who have these symptoms is not available through HPO
Abnormality of the ear
0000598
Autosomal recessive inheritance
0000007
Broad palm
Broad hand
Broad hands
Wide palm

[ more ]

0001169
Cerebral atrophy
Degeneration of cerebrum
0002059
Elevated hepatic transaminase
High liver enzymes
0002910
Insulin-resistant diabetes mellitus
Insulin resistant diabetes
Insulin-resistant diabetes

[ more ]

0000831
Pigmentary retinopathy
0000580
Rod-cone dystrophy
0000510
Sparse hair
0008070
Subcapsular cataract
0000523

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

    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.

      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 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome. Click on the link to view a sample search on this topic.