LEPRCH
MCID: LPR018
MIFTS: 58

Leprechaunism (LEPRCH) malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Leprechaunism

Aliases & Descriptions for Leprechaunism:

Name: Leprechaunism 54 12 50 24 25 56 66 13 52
Donohue Syndrome 54 12 50 24 25 56 66 42 14 69
Leprechaunism Syndrome 25 29
Insulin Receptor, Defect in 69
Insulin Receptor Defect 24
Donohue's Syndrome 25
Insulin Receptor 13
Leprch 66

Characteristics:

Orphanet epidemiological data:

56
leprechaunism
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: early childhood;

HPO:

32
leprechaunism:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 246200
Disease Ontology 12 DOID:0050470
MeSH 42 D056731
NCIt 47 C84676
SNOMED-CT 64 111307005 33559001
Orphanet 56 ORPHA508
UMLS via Orphanet 70 C0265344
ICD10 via Orphanet 34 E34.8

Summaries for Leprechaunism

Genetics Home Reference : 25 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.

MalaCards based summary : Leprechaunism, also known as donohue syndrome, is related to diabetes mellitus, insulin-resistant, with acanthosis nigricans and intellectual disability-developmental delay-contractures syndrome, and has symptoms including cachexia, hypertelorism and inguinal hernia. An important gene associated with Leprechaunism is INSR (Insulin Receptor), and among its related pathways/superpathways are TGF-Beta Pathway and p70S6K Signaling. The drugs Hypoglycemic Agents and insulin have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and skeletal muscle, and related phenotypes are Increased cell death HMECs cells and adipose tissue

NIH Rare Diseases : 50 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. last updated: 9/15/2014

UniProtKB/Swiss-Prot : 66 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 : 71 Donohue syndrome (also known as Leprechaunism) is an extremely rare and severe genetic disorder.... more...

Description from OMIM: 246200

Related Diseases for Leprechaunism

Diseases related to Leprechaunism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
id Related Disease Score Top Affiliating Genes
1 diabetes mellitus, insulin-resistant, with acanthosis nigricans 11.0
2 intellectual disability-developmental delay-contractures syndrome 10.2 INS INSR
3 ganglioneuroblastoma 10.1 IGF1R INSR
4 femur bifid with monodactylous ectrodactyly 10.1 IGF1 INSR
5 diabetic cataract 10.1 INS INSR
6 dacryoadenitis 10.1 IGF1 INS
7 tmem231-related joubert syndrome 10.1 IGF1 INS
8 brain angioma 10.1 IGF1 IRS1
9 brucella canis brucellosis 10.1 IGF1 INS
10 epidural spinal canal meningioma 10.0 IGF1 INS
11 urethra clear cell adenocarcinoma 10.0 IGF1 INS
12 insulin-like growth factor i 10.0
13 papillary craniopharyngioma 10.0 IGF1 INS
14 microphthalmia 10.0 IGF1R IGFBP3
15 sohval soffer syndrome 10.0 IGF1 IGFBP3
16 leg dermatosis 10.0 IGF1R INS INSR
17 microtia, hearing impairment, and cleft palate 10.0 IGF1 IGFBP3
18 spondylometaphyseal dysplasia, megarbane-dagher-melike type 10.0 IGF1 IGFBP3
19 chondroma 10.0 IGF1 INS
20 capgras syndrome 10.0 IGF1 IGFBP3
21 coronary aneurysm 10.0 IGF1R IGFBP3
22 pituitary adenoma, acth-secreting 10.0 IGF1 IGFBP3
23 epileptic encephalopathy, early infantile, 24 10.0 IGF1 IGFBP3
24 phacolytic glaucoma 10.0 IGF1 IGFBP3
25 pelvic muscle wasting 10.0 IGF1 INS INSR
26 aflatoxins-related hepatocellular carcinoma 10.0 IGF1 INS
27 mental retardation, autosomal recessive 35 9.9 IGF1 IGFBP3
28 gynandroblastoma 9.9 IGF1 IGFBP3
29 post-traumatic stress disorder 9.9 IGF1 IGFBP3
30 capillary lymphangioma 9.9 IGF1 INS
31 antidepressant type abuse 9.9 INS INSR IRS1
32 meningitis 9.9 INS INSR IRS1
33 ehlers-danlos syndrome, cardiac valvular form 9.9 IGF1 IGFBP3
34 neurogenic arthropathy 9.9 IGF1 INS IRS1
35 growth hormone deficiency 9.9
36 adrenal adenoma 9.9 IGF1 INS IRS1
37 peroneal neuropathy 9.9 IGF1 INS IRS1
38 body dysmorphic disorder 9.9 IGF1 INS IRS1
39 vernal conjunctivitis 9.8 IGF1 INS
40 congenital symblepharon 9.8 IGF1 IGFBP3
41 seow najjar syndrome 9.8 IGF1 IGFBP3 INS
42 protein s deficiency 9.8 IGF1 IGFBP3 INS
43 gerstmann syndrome 9.8 IGF1 IGFBP3 INS
44 cervix squamous papilloma 9.8 IGF1 IGFBP3 INS
45 thrombophilia 9.8 IGF1 IGFBP3 INS
46 blind loop syndrome 9.7 IGF1 INS INSR IRS1
47 primary biliary cirrhosis 9.7 IGF1 INS INSR IRS1
48 brain stem glioma 9.7 IGF1 INS INSR IRS1
49 hydrocephalus 9.7
50 hypertrichosis 9.7

Graphical network of the top 20 diseases related to Leprechaunism:



Diseases related to Leprechaunism

Symptoms & Phenotypes for Leprechaunism

Symptoms by clinical synopsis from OMIM:

246200

Clinical features from OMIM:

246200

Human phenotypes related to Leprechaunism:

56 32 (show top 50) (show all 60)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cachexia 56 32 Very frequent (99-80%) HP:0004326
2 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
3 inguinal hernia 56 32 Frequent (79-30%) HP:0000023
4 macrotia 56 32 Very frequent (99-80%) HP:0000400
5 recurrent respiratory infections 56 32 Frequent (79-30%) HP:0002205
6 delayed skeletal maturation 56 32 Frequent (79-30%) HP:0002750
7 depressed nasal bridge 56 32 Frequent (79-30%) HP:0005280
8 type ii diabetes mellitus 56 32 Very frequent (99-80%) HP:0005978
9 umbilical hernia 56 32 Frequent (79-30%) HP:0001537
10 abnormal facial shape 56 32 Very frequent (99-80%) HP:0001999
11 microcephaly 56 32 Occasional (29-5%) HP:0000252
12 short stature 56 32 Very frequent (99-80%) HP:0004322
13 feeding difficulties in infancy 56 32 Very frequent (99-80%) HP:0008872
14 cognitive impairment 56 32 Very frequent (99-80%) HP:0100543
15 lipoatrophy 56 32 Frequent (79-30%) HP:0100578
16 hypoglycemia 56 32 Very frequent (99-80%) HP:0001943
17 skeletal muscle atrophy 56 32 Very frequent (99-80%) HP:0003202
18 thick lower lip vermilion 56 32 Very frequent (99-80%) HP:0000179
19 thick nasal alae 56 32 Very frequent (99-80%) HP:0009928
20 generalized hirsutism 56 32 Frequent (79-30%) HP:0002230
21 hearing abnormality 56 32 Very frequent (99-80%) HP:0000364
22 cryptorchidism 56 32 Occasional (29-5%) HP:0000028
23 thickened nuchal skin fold 56 32 Very frequent (99-80%) HP:0000474
24 high, narrow palate 56 32 Very frequent (99-80%) HP:0002705
25 hyperinsulinemia 56 32 Very frequent (99-80%) HP:0000842
26 hepatic fibrosis 56 32 Frequent (79-30%) HP:0001395
27 intrauterine growth retardation 56 32 Very frequent (99-80%) HP:0001511
28 low-set, posteriorly rotated ears 56 32 Very frequent (99-80%) HP:0000368
29 cholestasis 56 32 Frequent (79-30%) HP:0001396
30 gynecomastia 56 32 Frequent (79-30%) HP:0000771
31 long penis 56 32 Very frequent (99-80%) HP:0000040
32 proptosis 56 32 Very frequent (99-80%) HP:0000520
33 severe failure to thrive 56 32 Very frequent (99-80%) HP:0001525
34 prominent nipples 56 32 Frequent (79-30%) HP:0004405
35 asymmetry of the breasts 56 32 Occasional (29-5%) HP:0010312
36 female pseudohermaphroditism 56 32 Frequent (79-30%) HP:0010458
37 elfin facies 32 HP:0004428
38 low-set ears 32 HP:0000369
39 precocious puberty 32 HP:0000826
40 gingival overgrowth 32 HP:0000212
41 hyperkeratosis 32 HP:0000962
42 acanthosis nigricans 32 HP:0000956
43 postnatal growth retardation 32 HP:0008897
44 wide mouth 32 HP:0000154
45 recurrent infections 32 HP:0002719
46 hypermelanotic macule 32 HP:0001034
47 postprandial hyperglycemia 32 HP:0011998
48 abdominal distention 32 HP:0003270
49 large hands 32 HP:0001176
50 nail dysplasia 32 HP:0002164

UMLS symptoms related to Leprechaunism:


elfin facies, female breast hyperplasia

GenomeRNAi Phenotypes related to Leprechaunism according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death HMECs cells GR00103-A-0 8.92 IGF1R INS INSR IRS1

MGI Mouse Phenotypes related to Leprechaunism:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.88 IGF1 IGF1R IGFBP3 INS INSR IRS1
2 endocrine/exocrine gland MP:0005379 9.8 IGF1 IGF1R IGFBP3 INS INSR IRS1
3 cardiovascular system MP:0005385 9.77 IGF1 IGF1R INS INSR IRS1
4 growth/size/body region MP:0005378 9.73 IGF1 IGF1R IGFBP3 INS INSR IRS1
5 homeostasis/metabolism MP:0005376 9.63 IGF1 IGF1R IGFBP3 INS INSR IRS1
6 liver/biliary system MP:0005370 9.35 INS INSR IRS1 IGF1R IGFBP3
7 muscle MP:0005369 9.1 IGF1 IGF1R IGFBP3 INS INSR IRS1

Drugs & Therapeutics for Leprechaunism

Drugs for Leprechaunism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hypoglycemic Agents Phase 2
2 insulin Phase 2
3 Insulin, Globin Zinc Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Leptin to Treat Severe Insulin Resistance - Pilot Study Completed NCT00027456 Phase 2

Search NIH Clinical Center for Leprechaunism

Cochrane evidence based reviews: donohue syndrome

Genetic Tests for Leprechaunism

Genetic tests related to Leprechaunism:

id Genetic test Affiliating Genes
1 Leprechaunism Syndrome 29
2 Donohue Syndrome 24 INSR

Anatomical Context for Leprechaunism

MalaCards organs/tissues related to Leprechaunism:

39
Skin, Breast, Skeletal Muscle, Pancreatic Islet, Ovary

Publications for Leprechaunism

Articles related to Leprechaunism:

(show all 50)
id Title Authors Year
1
Classic Case Report of Donohue Syndrome (Leprechaunism; OMIM *246200): The Impact of Consanguineous Mating. ( 26871809 )
2016
2
Leprechaunism (Donohue Syndrome). ( 26388649 )
2015
3
Ten-year improvement of insulin resistance and growth with recombinant human insulin-like growth factor 1 in a patient with insulin receptor mutations resulting in leprechaunism. ( 25465274 )
2015
4
Development of endometrial carcinoma in a patient with leprechaunism (donohue syndrome). ( 23990696 )
2013
5
Leprechaunism (Donohue syndrome): a case bearing novel compound heterozygous mutations in the insulin receptor gene. ( 22972224 )
2013
6
Leprechaunism (Donohue syndrome): report of a case in a newborn. ( 24127532 )
2013
7
A novel leprechaunism mutation, Cys807Arg, in an Arab infant: a rare cause of hypoglycaemia. ( 22824672 )
2012
8
Areolar sebaceous hyperplasia with underlying primary duct carcinoma of the breast in a woman with Donohue syndrome (leprechaunism). ( 22172957 )
2012
9
Leprechaunism - a case report. ( 23248375 )
2012
10
Sustained regression of florid diabetic retinopathy in a patient with Donohue syndrome (leprechaunism). ( 19882513 )
2010
11
Downregulation of Wnt-mediated ROS generation is causally implicated in leprechaunism. ( 20033851 )
2010
12
Polycystic ovaries in leprechaunism. ( 19688205 )
2010
13
Dental and craniofacial characteristics in a patient with leprechaunism treated with insulin-like growth factor-I. ( 18302477 )
2008
14
Hypertrophic cardiomyopathy with leprechaunism. ( 18556961 )
2008
15
Insulin effect on serum potassium and auto-inhibition of insulin secretion is intact in a patient with leprechaunism despite severe impairment of substrates metabolism. ( 17968975 )
2008
16
[Leprechaunism: an inherited insulin resistance syndrome caused by the defect of insulin receptor]. ( 17166446 )
2006
17
Some effect of metformin on insulin resistance in an infant with leprechaunism. ( 17172088 )
2006
18
Impaired generation of reactive oxygen species in leprechaunism through downregulation of Nox4. ( 16249442 )
2005
19
[Leprechaunism caused by mutations in the insulin receptor gene]. ( 11857924 )
2002
20
Megalencephaly, hydrocephalus and cortical dysplasia in severe dwarfism mimicking leprechaunism. ( 9560023 )
1998
21
Long-term effect of recombinant human insulin-like growth factor I on metabolic and growth control in a patient with leprechaunism. ( 9467572 )
1998
22
Picture of the month. Leprechaunism. ( 9790616 )
1998
23
[Biological and clinical analyses of the mechanism of growth retardation and the effect of recombinant human insulin-like growth factor-1 (rhIGF-1) treatment on glucose metabolism and growth in leprechaunism with severe insulin resistant diabetes]. ( 10036618 )
1998
24
Molecular analysis of the insulin receptor gene for prenatal diagnosis of leprechaunism in two families. ( 9249867 )
1997
25
A homozygous kinase-defective mutation in the insulin receptor gene in a patient with leprechaunism. ( 9112018 )
1997
26
Leprechaunism/Donohue syndrome/insulin receptor gene mutations: a syndrome delineation story from clinicopathological description to molecular understanding. ( 9128805 )
1997
27
Leprechaunism in two Turkish patients. ( 9339119 )
1997
28
Severe resistance to insulin and insulin-like growth factor-I in cells from a patient with leprechaunism as a result of two mutations in the tyrosine kinase domain of the insulin receptor. ( 8969282 )
1996
29
An insulin receptor mutant (Asp707 --> Ala), involved in leprechaunism, is processed and transported to the cell surface but unable to bind insulin. ( 8702527 )
1996
30
Homozygous nonsense mutation in the insulin receptor gene of a patient with severe congenital insulin resistance: leprechaunism and the role of the insulin-like growth factor receptor. ( 8881457 )
1996
31
Two mutations in the insulin receptor gene of a patient with leprechaunism: application to prenatal diagnosis. ( 7538143 )
1995
32
Amplification and analysis of promoter region of insulin receptor gene in a patient with leprechaunism associated with severe insulin resistance. ( 7536883 )
1995
33
Prenatal analysis of the insulin receptor gene in a family with leprechaunism. ( 8606887 )
1995
34
Deletion of 3 basepairs resulting in the loss of lysine-121 in the insulin receptor alpha-subunit in a patient with leprechaunism: binding, phosphorylation, and biological activity. ( 7962321 )
1994
35
Effect of intravenous insulin-like growth factor I in two patients with leprechaunism. ( 7534902 )
1994
36
Alternative splicing of the insulin receptor isoforms is altered in patients with leprechaunism. ( 7535732 )
1994
37
Leprechaunism (Donohue's syndrome) described as familial congenital hypertrichosis totalis. ( 8193466 )
1994
38
Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism. ( 8101305 )
1993
39
A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents. ( 8326490 )
1993
40
Congenital bilateral juvenile granulosa cell tumor of the ovary in leprechaunism: a case report. ( 8247952 )
1993
41
Leprechaunism (Donohue's syndrome): a case report. ( 8160285 )
1993
42
Homozygous deletion of the human insulin receptor gene results in leprechaunism. ( 7693131 )
1993
43
Growth factor receptor regulation in the Minn-1 leprechaun: defects in both insulin receptor and epidermal growth factor receptor gene expression. ( 1316988 )
1992
44
Glomerulopathy in patient with Donohue syndrome (leprechaunism). ( 1711953 )
1991
45
Prenatal analysis of insulin receptor autophosphorylation in a family with leprechaunism. ( 2315274 )
1990
46
Phenotypic expression in Donohue syndrome (leprechaunism): a role for epidermal growth factor. ( 3875706 )
1985
47
Diagnostic criteria in leprechaunism (Donohue syndrome). ( 7450836 )
1980
48
Leprechaunism (Donohue syndrome): a case with growth hormone deficiency. ( 546031 )
1979
49
Leprechaunism (Donohue syndrome). A case with growth hormone deficiency. ( 546030 )
1979
50
Leprechaunism (Donohue syndrome). ( 4131563 )
1973

Variations for Leprechaunism

UniProtKB/Swiss-Prot genetic disease variations for Leprechaunism:

66 (show all 20)
id Symbol AA change Variation ID SNP ID
1 INSR p.Val55Ala VAR_004080 rs121913152
2 INSR p.Gly58Arg VAR_004081 rs52836744
3 INSR p.Arg113Pro VAR_004082 rs121913153
4 INSR p.His236Arg VAR_004084 rs121913145
5 INSR p.Leu260Pro VAR_004085 rs121913141
6 INSR p.Gly393Arg VAR_004086 rs267607184
7 INSR p.Lys487Glu VAR_004088 rs28933083
8 INSR p.Ile146Met VAR_015539 rs121913159
9 INSR p.Trp439Ser VAR_015542 rs121913158
10 INSR p.Ala119Val VAR_015909
11 INSR p.Cys301Tyr VAR_015912
12 INSR p.Ser350Leu VAR_015914
13 INSR p.Ile925Thr VAR_015918
14 INSR p.Arg926Trp VAR_015919
15 INSR p.Thr937Met VAR_015920
16 INSR p.Arg1119Trp VAR_015925
17 INSR p.Arg1201Trp VAR_015930
18 INSR p.Glu1206Lys VAR_015932
19 INSR p.Leu120Gln VAR_031518
20 INSR p.Asn458Asp VAR_031521 rs121913160

ClinVar genetic disease variations for Leprechaunism:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 INSR NM_000208.3(INSR): c.1459A> G (p.Lys487Glu) single nucleotide variant Pathogenic rs121913136 GRCh37 Chromosome 19, 7170572: 7170572
2 INSR NM_000208.3(INSR): c.1177G> A (p.Gly393Arg) single nucleotide variant Pathogenic rs267607184 GRCh37 Chromosome 19, 7172392: 7172392
3 INSR NM_000208.3(INSR): c.2095C> T (p.Gln699Ter) single nucleotide variant Pathogenic rs121913137 GRCh37 Chromosome 19, 7152873: 7152873
4 INSR NM_000208.3(INSR): c.2770C> T (p.Arg924Ter) single nucleotide variant Pathogenic rs387906538 GRCh37 Chromosome 19, 7132241: 7132241
5 INSR NM_000208.3(INSR): c.779T> C (p.Leu260Pro) single nucleotide variant Pathogenic rs121913141 GRCh37 Chromosome 19, 7184522: 7184522
6 INSR NM_000208.3(INSR): c.707A> G (p.His236Arg) single nucleotide variant Pathogenic rs121913145 GRCh37 Chromosome 19, 7184594: 7184594
7 INSR NM_000208.3(INSR): c.172G> A (p.Gly58Arg) single nucleotide variant Pathogenic rs52836744 GRCh37 Chromosome 19, 7267836: 7267836
8 INSR NM_000208.3(INSR): c.1195C> T (p.Arg399Ter) single nucleotide variant Pathogenic rs121913151 GRCh37 Chromosome 19, 7172374: 7172374
9 INSR NM_000208.3(INSR): c.164T> C (p.Val55Ala) single nucleotide variant Pathogenic rs121913152 GRCh37 Chromosome 19, 7267844: 7267844
10 INSR NM_000208.3(INSR): c.338G> C (p.Arg113Pro) single nucleotide variant Pathogenic rs121913153 GRCh37 Chromosome 19, 7267670: 7267670
11 INSR NM_000208.3(INSR): c.442A> T (p.Lys148Ter) single nucleotide variant Pathogenic rs121913155 GRCh37 Chromosome 19, 7267566: 7267566
12 INSR NC_000019.10: g.(?_7112255)_(7249328_?)del deletion Pathogenic GRCh38 Chromosome 19, 7112255: 7249328
13 INSR NM_000208.3(INSR): c.1316G> C (p.Trp439Ser) single nucleotide variant Pathogenic rs121913158 GRCh37 Chromosome 19, 7170715: 7170715
14 INSR NM_000208.3(INSR): c.438C> G (p.Ile146Met) single nucleotide variant Pathogenic rs121913159 GRCh37 Chromosome 19, 7267570: 7267570
15 INSR NM_000208.3(INSR): c.1372A> G (p.Asn458Asp) single nucleotide variant Pathogenic rs121913160 GRCh37 Chromosome 19, 7170659: 7170659

Expression for Leprechaunism

Search GEO for disease gene expression data for Leprechaunism.

Pathways for Leprechaunism

Pathways related to Leprechaunism according to GeneCards Suite gene sharing:

(show top 50) (show all 56)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.31 IGF1 IGF1R INS INSR IRS1
2
Show member pathways
12.85 IGF1 IGF1R INS INSR IRS1
3
Show member pathways
12.83 IGF1 IGF1R INS IRS1
4
Show member pathways
12.69 IGF1 IGF1R INSR IRS1
5
Show member pathways
12.55 IGF1 IGF1R INS INSR
6
Show member pathways
12.53 INS INSR IRS1
7
Show member pathways
12.51 IGF1 IGF1R IGFBP3 INS INSR IRS1
8
Show member pathways
12.39 IGF1 IGF1R IRS1
9 12.39 IGF1 IGF1R INS INSR IRS1
10
Show member pathways
12.37 IGF1R INS INSR IRS1
11
Show member pathways
12.3 IGF1 IGF1R INS INSR IRS1
12 12.27 IGF1R IGFBP3 INS INSR IRS1
13
Show member pathways
12.23 IGF1 IGF1R IGFBP3 IRS1
14
Show member pathways
12.21 IGF1 IGF1R IRS1
15
Show member pathways
12.2 IGF1 IGF1R INS
16
Show member pathways
12.18 IGF1 IGF1R INS INSR IRS1
17
Show member pathways
12.15 IGF1 IGF1R INSR IRS1
18
Show member pathways
12.12 IGF1 IGF1R IRS1
19 12.09 IGF1 IGF1R IGFBP3
20
Show member pathways
12.06 INS INSR IRS1
21
Show member pathways
11.99 IGF1 IGF1R IRS1
22
Show member pathways
11.98 IGF1 IGF1R IRS1
23 11.97 IGF1R INSR IRS1
24 11.93 IGF1 INS IRS1
25 11.91 IGF1R INS IRS1
26
Show member pathways
11.89 IGF1R INS INSR
27
Show member pathways
11.83 INS INSR IRS1
28 11.82 IGF1 IGF1R IGFBP3 INS
29 11.77 IGF1 IGF1R INS INSR
30 11.76 IGF1 IGFBP3 INS
31
Show member pathways
11.76 INS INSR IRS1
32 11.59 INS INSR IRS1
33 11.58 IGF1R INSR
34 11.56 IGF1 IGF1R INSR
35 11.53 IGF1 IGF1R
36
Show member pathways
11.53 IGF1 IGF1R INS INSR IRS1
37 11.5 IGF1 IGF1R
38 11.49 IGF1 IGF1R
39 11.48 INS INSR IRS1
40 11.43 IGF1 INS
41 11.43 INS INSR IRS1
42 11.39 IGF1 INS
43 11.37 IGF1R IRS1
44 11.36 IGF1R INSR
45 11.35 INS INSR IRS1
46
Show member pathways
11.32 INS INSR
47 11.32 IGF1 IGF1R INS INSR
48 11.18 IGF1 IGF1R IRS1
49 11.16 INS INSR
50
Show member pathways
11.16 IGF1 IGF1R INS INSR IRS1

GO Terms for Leprechaunism

Cellular components related to Leprechaunism according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 caveola GO:0005901 9.32 INSR IRS1
2 insulin-like growth factor ternary complex GO:0042567 9.26 IGF1 IGFBP3
3 alphav-beta3 integrin-IGF-1-IGF1R complex GO:0035867 9.16 IGF1 IGF1R
4 insulin-like growth factor binding protein complex GO:0016942 8.96 IGF1 IGFBP3
5 insulin receptor complex GO:0005899 8.62 INSR IRS1

Biological processes related to Leprechaunism according to GeneCards Suite gene sharing:

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.83 IGF1 IGF1R INS INSR IRS1
2 positive regulation of cell migration GO:0030335 9.81 IGF1 IGF1R INS INSR
3 cellular protein metabolic process GO:0044267 9.75 IGF1 IGFBP3 INS
4 phosphatidylinositol-mediated signaling GO:0048015 9.72 IGF1 IGF1R IRS1
5 glucose homeostasis GO:0042593 9.71 INS INSR IRS1
6 phosphatidylinositol 3-kinase signaling GO:0014065 9.67 IGF1 IGF1R IRS1
7 activation of protein kinase B activity GO:0032148 9.65 IGF1 INS INSR
8 positive regulation of mitotic nuclear division GO:0045840 9.63 IGF1 INS INSR
9 positive regulation of MAPK cascade GO:0043410 9.62 IGF1 IGFBP3 INS INSR
10 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.6 IGF1 INS
11 peptidyl-tyrosine autophosphorylation GO:0038083 9.59 IGF1R INSR
12 positive regulation of nitric oxide biosynthetic process GO:0045429 9.58 INS INSR
13 positive regulation of glycolytic process GO:0045821 9.58 IGF1 INS INSR
14 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.57 IGF1 IGFBP3
15 positive regulation of insulin receptor signaling pathway GO:0046628 9.56 INS IRS1
16 insulin receptor signaling pathway GO:0008286 9.56 IGF1R INS INSR IRS1
17 insulin-like growth factor receptor signaling pathway GO:0048009 9.54 IGF1 IGF1R IRS1
18 positive regulation of respiratory burst GO:0060267 9.52 INS INSR
19 positive regulation of DNA replication GO:0045740 9.46 IGF1 IGF1R INS INSR
20 positive regulation of glucose import GO:0046326 9.26 IGF1 INS INSR IRS1
21 positive regulation of glycogen biosynthetic process GO:0045725 8.92 IGF1 INS INSR IRS1

Molecular functions related to Leprechaunism according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.46 IGF1R INSR
2 insulin-like growth factor binding GO:0005520 9.43 IGF1R IGFBP3
3 phosphatidylinositol 3-kinase binding GO:0043548 9.43 IGF1R INSR IRS1
4 insulin receptor substrate binding GO:0043560 9.4 IGF1R INSR
5 insulin-like growth factor II binding GO:0031995 9.37 IGFBP3 INSR
6 insulin-like growth factor I binding GO:0031994 9.33 IGF1R IGFBP3 INSR
7 insulin binding GO:0043559 9.32 IGF1R INSR
8 insulin receptor binding GO:0005158 9.26 IGF1 IGF1R INS IRS1
9 insulin-like growth factor receptor binding GO:0005159 8.92 IGF1 INS INSR IRS1

Sources for Leprechaunism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
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48 NDF-RT
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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