eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| leprechaunism | ||||
| Disease ID | 89 |
|---|---|
| Disease | leprechaunism |
| Definition | Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of INSULIN RECEPTOR. Clinical features include severe intrauterine and postnatal growth restriction, characteristic dysmorphic FACIES; HIRSUTISM; VIRILIZATION; multiple endocrine abnormalities, and early death. |
| Synonym | donahue's syndrome donohue syndrome donohue syndrome [disease/finding] donohue's syndrome leprechaunism syndrome leprechaunism syndrome (disorder) leprechaunisms syndrome, donohue |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0265344 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0476089 | endometrial ca | 1 C0476089 | endometrial carcinoma | 1 C0011884 | diabetic retinopathy | 1 C0020456 | hyperglycemia | 1 C0035309 | retinopathy | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:14) 10555 | AGPAT2 | 1.723 | DISEASES 64225 | ATL2 | 2.941 | DISEASES 9212 | AURKB | 2.765 | DISEASES 26580 | BSCL2 | 1.519 | DISEASES 1028 | CDKN1C | 1.17 | DISEASES 1810 | DR1 | 1.954 | DISEASES 2641 | GCG | 1.79 | DISEASES 2885 | GRB2 | 1.141 | DISEASES 3376 | IARS | 2.681 | DISEASES 3486 | IGFBP3 | 2.633 | DISEASES 4773 | NFATC2 | 1.702 | DISEASES 9124 | PDLIM1 | 5.025 | DISEASES 6464 | SHC1 | 1.372 | DISEASES 56889 | TM9SF3 | 3.106 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) INSR | 19p13.2 |
| Disease ID | 89 |
|---|---|
| Disease | leprechaunism |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:36) HP:0000028 | Cryptorchidism HP:0000520 | Proptosis HP:0100543 | Cognitive impairment HP:0004322 | Short stature HP:0001395 | Hepatic fibrosis HP:0000474 | Thickened nuchal skin fold HP:0005280 | Depressed nasal bridge HP:0002205 | Recurrent respiratory infections HP:0010312 | Asymmetry of the breasts HP:0001537 | Umbilical hernia HP:0000316 | Hypertelorism HP:0001525 | Severe failure to thrive HP:0001943 | Hypoglycemia HP:0000040 | Long penis HP:0001511 | Intrauterine growth retardation HP:0100578 | Lipoatrophy HP:0004405 | Prominent nipples HP:0008872 | Feeding difficulties in infancy HP:0005978 | Type II diabetes mellitus HP:0000771 | Gynecomastia HP:0001396 | Cholestasis HP:0000842 | Hyperinsulinemia HP:0000252 | Microcephaly HP:0001999 | Abnormal facial shape HP:0002230 | Generalized hirsutism HP:0009928 | Thick nasal alae HP:0000023 | Inguinal hernia HP:0002705 | High, narrow palate HP:0004326 | Cachexia HP:0010458 | Female pseudohermaphroditism HP:0000179 | Thick lower lip vermilion HP:0002750 | Delayed skeletal maturation HP:0000364 | Hearing abnormality HP:0000400 | Macrotia HP:0000368 | Low-set, posteriorly rotated ears HP:0003202 | Skeletal muscle atrophy |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) |
| Disease ID | 89 |
|---|---|
| Disease | leprechaunism |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:18) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121913136 | NA | 3643 | INSR | umls:C0265344 | CLINVAR | NA | 0.493496149 | NA | INSR | 19 | 7170561 | T | C |
| rs121913137 | NA | 3643 | INSR | umls:C0265344 | CLINVAR | NA | 0.493496149 | NA | INSR | 19 | 7152862 | G | C,A |
| rs121913141 | NA | 3643 | INSR | umls:C0265344 | CLINVAR | NA | 0.493496149 | NA | INSR | 19 | 7184511 | A | G |
| rs121913145 | NA | 3643 | INSR | umls:C0265344 | CLINVAR | NA | 0.493496149 | NA | INSR | 19 | 7184583 | T | C |
| rs121913151 | NA | 3643 | INSR | umls:C0265344 | CLINVAR | NA | 0.493496149 | NA | INSR | 19 | 7172363 | G | A |
| rs121913152 | NA | 3643 | INSR | umls:C0265344 | CLINVAR | NA | 0.493496149 | NA | INSR | 19 | 7267833 | A | G |
| rs121913153 | NA | 3643 | INSR | umls:C0265344 | CLINVAR | NA | 0.493496149 | NA | INSR | 19 | 7267659 | C | G |
| rs121913155 | NA | 3643 | INSR | umls:C0265344 | CLINVAR | NA | 0.493496149 | NA | INSR | 19 | 7267555 | T | A |
| rs121913158 | NA | 3643 | INSR | umls:C0265344 | CLINVAR | NA | 0.493496149 | NA | INSR | 19 | 7170704 | C | G |
| rs121913159 | NA | 3643 | INSR | umls:C0265344 | CLINVAR | NA | 0.493496149 | NA | INSR | 19 | 7267559 | G | C |
| rs121913160 | NA | 3643 | INSR | umls:C0265344 | CLINVAR | NA | 0.493496149 | NA | INSR | 19 | 7170648 | T | C |
| rs200199169 | 1931997 | 3643 | INSR | umls:C0265344 | BeFree | We have previously shown that a homozygous mutation encoding a substitution of proline for leucine at position 233 in the insulin receptor is linked with the syndrome of leprechaunism, being a lethal form of insulin resistance in newborn children. | 0.493496149 | 1991 | INSR | 19 | 7184478 | G | A |
| rs267607184 | NA | 3643 | INSR | umls:C0265344 | CLINVAR | NA | 0.493496149 | NA | INSR | 19 | 7172381 | C | T |
| rs28933083 | 2834824 | 3643 | INSR | umls:C0265344 | UNIPROT | Insulin receptor complementary DNA has been cloned from an insulin-resistant patient with leprechaunism whose receptors exhibited multiple abnormalities in insulin binding. | 0.493496149 | 1988 | NA | NA | NA | NA | NA |
| rs387906538 | NA | 3643 | INSR | umls:C0265344 | CLINVAR | NA | 0.493496149 | NA | INSR | 19 | 7132230 | G | C,A |
| rs387906539 | 1931997 | 3643 | INSR | umls:C0265344 | BeFree | We have previously shown that a homozygous mutation encoding a substitution of proline for leucine at position 233 in the insulin receptor is linked with the syndrome of leprechaunism, being a lethal form of insulin resistance in newborn children. | 0.493496149 | 1991 | INSR | 19 | 7184592 | A | G |
| rs52836744 | 1730625 | 3643 | INSR | umls:C0265344 | UNIPROT | In a patient with Leprechaunism, we have characterized a new mutation in the insulin receptor substituting Arg for Gly at position 31. | 0.493496149 | 1992 | INSR | 19 | 7267825 | C | T |
| rs52836744 | NA | 3643 | INSR | umls:C0265344 | CLINVAR | NA | 0.493496149 | NA | INSR | 19 | 7267825 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:15) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008872 | Feeding difficulties in infancy | MP:0011075 | abnormal macrophage activation involved in immune response | anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response |
| HP:0000179 | Thick lower lip vermilion | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| HP:0001511 | Intrauterine growth retardation | MP:0011109 | lethality throughout fetal growth and development, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
| HP:0005978 | Type II diabetes mellitus | MP:0004803 | increased susceptibility to autoimmune diabetes | greater likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas |
| HP:0001999 | Abnormal facial shape | MP:0008018 | increased facial tumor incidence | greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period |
| HP:0003202 | Skeletal muscle atrophy | MP:0014068 | abnormal muscle glycogen level | the normal concentration of a readily converted carbohydrate reserve in muscle tissue |
| HP:0000023 | Inguinal hernia | MP:0010146 | umbilical hernia | an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close |
| HP:0000474 | Thickened nuchal skin fold | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0001525 | Severe failure to thrive | MP:0010180 | increased susceptibility to weight loss | greater decrease in body weight over time when compared to the average decrease in weight in response to dietary modification, fasting or caloric restriction, infection or xenobiotic treatment |
| HP:0005280 | Depressed nasal bridge | MP:0013582 | abnormal lateral nasal gland morphology | any structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those d |
| HP:0001537 | Umbilical hernia | MP:0010146 | umbilical hernia | an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close |
| HP:0000040 | Long penis | MP:0005188 | small penis | reduced size of the organ of copulation and urination in the male |
| HP:0002205 | Recurrent respiratory infections | MP:0014182 | decreased respiratory epithelial sodium ion transmembrane transport | decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other |
| HP:0001395 | Hepatic fibrosis | MP:0003985 | renal fibrosis | formation of fibrous tissue in the kidney as a result of repair or a reactive process |
| HP:0002750 | Delayed skeletal maturation | MP:0003379 | absent sexual maturation | failure to initiate pubertal changes that result in achievement of full sexual capacity |
Mapped by homologous gene(Total Items:35) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000474 | Thickened nuchal skin fold | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002205 | Recurrent respiratory infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0003202 | Skeletal muscle atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0004326 | Cachexia | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001396 | Cholestasis | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0000364 | Hearing abnormality | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002705 | High, narrow palate | MP:0013600 | testis degeneration | a retrogressive impairment of function or destruction of either or both of the male reproductive glands |
| HP:0000316 | Hypertelorism | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0100543 | Cognitive impairment | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001525 | Severe failure to thrive | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001395 | Hepatic fibrosis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0001511 | Intrauterine growth retardation | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000028 | Cryptorchidism | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0005280 | Depressed nasal bridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005978 | Type II diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001999 | Abnormal facial shape | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002230 | Generalized hirsutism | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001943 | Hypoglycemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100578 | Lipoatrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000520 | Proptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0004405 | Prominent nipples | MP:0011085 | postnatal lethality, complete penetrance | premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age) |
| HP:0008872 | Feeding difficulties in infancy | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0009928 | Thick nasal alae | MP:0004924 | abnormal behavior | any anomaly in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls |
| HP:0000179 | Thick lower lip vermilion | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000368 | Low-set, posteriorly rotated ears | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001537 | Umbilical hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000842 | Hyperinsulinemia | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0010458 | Female pseudohermaphroditism | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000400 | Macrotia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000023 | Inguinal hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002750 | Delayed skeletal maturation | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000252 | Microcephaly | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000040 | Long penis | MP:0014193 | decreased epididymal cell proliferation | decrease in the expansion rate of any epididymal cell population by cell division |
| HP:0000771 | Gynecomastia | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| Disease ID | 89 |
|---|---|
| Disease | leprechaunism |
| Case | (Waiting for update.) |