Rare Endocrinology News
Disease Profile
Leprechaunism
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 >
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.
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)
Donohue syndrome
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Skin Diseases
Summary
Leprechaunism is a
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 |
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 |
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 | |
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 |
Enlarged and thickened heart muscle
|
0001639 | |
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 |
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 | ||
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | ||
Muscular |
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 | |
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 |
DiagnosisMaking 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
Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Learn moreThese 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
In-Depth Information
References
Rare Endocrinology News |