Rare Oncology News

Disease Profile

Leprechaunism

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

Neonatal

ICD-10

E34.8

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)

Donohue syndrome

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Skin Diseases

Summary

Leprechaunism is a congenital (present from birth) condition characterized by extreme insulin resistance, preand postnatal growth delays, characteristic facial features, skin abnormalities, muscular hypotrophy (reduced muscle mass) and enlarged external genitalia in both males and females. The condition is caused by mutations in the insulin receptor gene (INSR) gene. It is inherited in an autosomal recessive manner.[1][2][3]

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
Fasting hypoglycemia
Low blood sugar when fasting
0003162
Hyperkeratosis
0000962
Insulin resistance
Body fails to respond to insulin
0000855
Postnatal growth retardation
Growth delay as children
0008897
Postprandial hyperglycemia
0011998
Reduced subcutaneous adipose tissue
Reduced fat tissue below the skin
0003758
Severe intrauterine growth retardation
Severe prenatal growth deficiency
0008846
30%-79% of people have these symptoms
Abdominal distention
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating

[ more ]

0003270
Acanthosis nigricans
Darkened and thickened skin
0000956
Clitoral hypertrophy
Enlarged clitoris
0008665
Enlarged kidney
Large kidneys
0000105
Facial hypertrichosis
Increased facial hair growth
0002219
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Hepatomegaly
Enlarged liver
0002240
Hyperinsulinemia
0000842
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Labial hypertrophy
Enlargement of the labia
Enlargement of the vaginal lips

[ more ]

0000065
Long penis
Enlarged penis
0000040
Overgrowth of external genitalia
0003247
Prominent nipples
0004405
Recurrent infantile hypoglycemia
Recurrent low blood sugar in infant
0004914
Severe global developmental delay
0011344
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
5%-29% of people have these symptoms
Central hypothyroidism
0011787
Enlarged ovaries
0100879
Hyperaldosteronism
Elevated plasma aldosterone
Increased aldosterone
Increased aldosterone production

[ more ]

0000859
Hypercalciuria
Elevated urine calcium levels
0002150
Hyperextensible skin
Hyperelastic skin
Skin hyperelasticity
Stretchable skin

[ more ]

0000974
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypokalemia
Low blood potassium levels
0002900
Increased circulating renin level
Elevated blood renin level
0000848
Large hands
large hand
0001176
Long foot
Disproportionately large feet
large feet
long feet

[ more ]

0001833
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Megarectum
0025024
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Muscular hypotonia of the trunk
Low muscle tone in trunk
0008936
Nephrocalcinosis
Too much calcium deposited in kidneys
0000121
Pointed chin
Pointy chin
Small pointed chin
Witch's chin

[ more ]

0000307
Protruding ear
Prominent ear
Prominent ears

[ more ]

0000411
Rectal prolapse
Rectum protrudes through anus
0002035
Thick vermilion border
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips

[ more ]

0012471
Wide nose
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose

[ more ]

0000445
Percent of people who have these symptoms is not available through HPO
Abnormality of the abdominal wall
0004298
Adipose tissue loss
Loss of fat tissue
0008887
Autosomal recessive inheritance
0000007
Cholestasis
Slowed or blocked flow of bile from liver
0001396
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
Elfin facies
Elf-like facial appearance
Elf-like facial features

[ more ]

0004428
Gingival overgrowth
Gum enlargement
0000212
Hepatic fibrosis
0001395
Hyperglycemia
High blood sugar
0003074
Hypermelanotic macule
Hyperpigmented spots
0001034
Hypertrichosis
0000998
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Macrotia
Large ears
0000400
Nail dysplasia
Atypical nail growth
0002164
Ovarian cyst

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.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

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 Leprechaunism. 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

  • 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 Leprechaunism. Click on the link to view a sample search on this topic.

References

  1. Baykan A. Leprechaunism. National Organization for Rare Disorders (NORD). 2012; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/387/viewAbstract. Accessed 9/15/2014.
  2. Capeau J. Leprechaunism. Orphanet. January 2009; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=508. Accessed 9/15/2014.
  3. Donohue Syndrome. Online Mendelian Inheritance in Man (OMIM). February 14, 2011; https://omim.org/entry/246200. Accessed 9/15/2014.

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