LEPRCH
MCID: DNH001
MIFTS: 61
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Donohue Syndrome (LEPRCH)
Categories:
Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Donohue Syndrome:
Characteristics:Orphanet epidemiological data:58
leprechaunism
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: early childhood; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
death often in early infancy HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Skin diseases Endocrine diseases
ICD10:
33
Orphanet: 58
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MedlinePlus Genetics :
43
Donohue syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. Severe insulin resistance leads to problems with regulating blood sugar levels and affects the development and function of organs and tissues throughout the body.Severe insulin resistance underlies the varied signs and symptoms of Donohue syndrome. Individuals with Donohue syndrome are unusually small starting before birth, and affected infants experience failure to thrive, which means they do not grow and gain weight at the expected rate. Additional features that become apparent soon after birth include a lack of fatty tissue under the skin (subcutaneous fat); wasting (atrophy) of muscles; excessive body hair growth (hirsutism); multiple cysts on the ovaries in females; and enlargement of the nipples, genitalia, kidneys, heart, and other organs. Most affected individuals also have a skin condition called acanthosis nigricans, in which the skin in body folds and creases becomes thick, dark, and velvety. Distinctive facial features in people with Donohue syndrome include bulging eyes, thick lips, upturned nostrils, and low-set ears. Affected individuals develop recurrent, life-threatening infections beginning in infancy.Donohue syndrome is one of a group of related conditions described as inherited severe insulin resistance syndromes. These disorders, which also include Rabson-Mendenhall syndrome and type A insulin resistance syndrome, are considered part of a spectrum. Donohue syndrome represents the most severe end of the spectrum; most children with this condition do not survive beyond age 2.
MalaCards based summary : Donohue Syndrome, also known as leprechaunism, is related to pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities and acquired generalized lipodystrophy, and has symptoms including elfin facies and female breast hyperplasia. An important gene associated with Donohue Syndrome is INSR (Insulin Receptor), and among its related pathways/superpathways are Adherens junction and Insulin signaling pathway. Affiliated tissues include skeletal muscle, breast and kidney, and related phenotypes are hyperkeratosis and postnatal growth retardation Disease Ontology : 12 A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has material basis in mutation within the INSR gene causing abnormalities in the insulin receptor. GARD : 20 Leprechaunism is a congenital (present from birth) condition characterized by extreme insulin resistance, pre- and 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. KEGG : 36 Leprechaunism (Donohue syndrome) is an autosomal recessive disorder of insulin-resistance characterized by intrauterine and postnatal growth retardation, acanthosis nigricans, lipoatrophy, and genitomegaly. The disease is known as leprechaunism because infants with the disease show an elf-like face and short stature. UniProtKB/Swiss-Prot : 73 Leprechaunism: Represents the most severe form of insulin resistance syndrome, characterized by intrauterine and postnatal growth retardation and death in early infancy. Inheritance is autosomal recessive. Wikipedia : 74 Donohue syndrome (also known as leprechaunism) is an extremely rare and severe genetic disorder.... more...
More information from OMIM:
246200
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Human phenotypes related to Donohue Syndrome:58 31 (show top 50) (show all 68)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:246200 (Updated 05-Mar-2021)UMLS symptoms related to Donohue Syndrome:elfin facies, female breast hyperplasia GenomeRNAi Phenotypes related to Donohue Syndrome according to GeneCards Suite gene sharing:26 (show all 15)
MGI Mouse Phenotypes related to Donohue Syndrome:46 (show all 15)
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Cochrane evidence based reviews: donohue syndrome |
MalaCards organs/tissues related to Donohue Syndrome:40
Skeletal Muscle,
Breast,
Kidney,
Pancreatic Islet,
Bone,
Thymus,
Tonsil
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Articles related to Donohue Syndrome:(show top 50) (show all 276)
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ClinVar genetic disease variations for Donohue Syndrome:6 (show top 50) (show all 264)
UniProtKB/Swiss-Prot genetic disease variations for Donohue Syndrome:73 (show all 25)
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Search
GEO
for disease gene expression data for Donohue Syndrome.
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Pathways related to Donohue Syndrome according to KEGG:36
Pathways related to Donohue Syndrome according to GeneCards Suite gene sharing:(show top 50) (show all 57)
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Cellular components related to Donohue Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Donohue Syndrome according to GeneCards Suite gene sharing:(show all 31)
Molecular functions related to Donohue Syndrome according to GeneCards Suite gene sharing:
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