MCID: LRN002
MIFTS: 76

Laron Syndrome malady

Genetic diseases, Rare diseases, Endocrine diseases categories
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Summaries for Laron Syndrome

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NIH Rare Diseases:42 Laron syndrome is a disorder chiefly characterized by marked short stature. signs and symptoms in the newborn period typically include low blood sugar (hypoglycemia) and having an unusually small penis (micropenis). affected children have slow and disproportionate growth, delayed motor development due to decreased muscle mass, and delayed puberty. other signs and symptoms include distinctive facial features (protruding and high forehead, shallow eye sockets, underdeveloped nasal bridge and small chin); delayed teething; a high-pitched voice; thin bones and skin; and decreased sweating (hypohidrosis). it is often caused by mutations in the ghr gene and is inherited in an autosomal recessive manner. treatment focuses on improving growth and includes injections of insulin-like growth factor 1 (igf-1) and a diet with adequate calories. last updated: 11/3/2011

MalaCards based summary: Laron Syndrome, also known as growth hormone receptor deficiency, is related to gigantism and insulin-like growth factor i deficiency, and has symptoms including high forehead, facial dysmorphism and micrognathia/retrognathia/micrognathism/retrognathism. An important gene associated with Laron Syndrome is GHR (growth hormone receptor), and among its related pathways are Immune response IL 12 signaling pathway and Aldosterone-regulated sodium reabsorption. The compounds lanreotide and oxandrolone have been mentioned in the context of this disorder. Affiliated tissues include pituitary, bone and skin, and related mouse phenotypes are skeleton and reproductive system.

Wikipedia:65 Laron syndrome, or Laron-type dwarfism, is an autosomal recessive disorder characterized by an... more...

Description from OMIM:46 262500

Aliases & Classifications for Laron Syndrome

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 57SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Laron Syndrome, Aliases & Descriptions:

Name: Laron Syndrome 8 42 10 44 48 62
Growth Hormone Receptor Deficiency 42 48 62
Primary Growth Hormone Resistance 42 48 62
Pituitary Dwarfism Ii 42 20 62
Laron-Type Isolated Somatotropin Defect 8 22
Growth Hormone Insensitivity Syndrome 42 62
Primary Growth Hormone Insensitivity 42 48
Gh Receptor Deficiency 48 62
 
Primary Gh Resistance 48 62
Laron-Type Dwarfism 48 62
Laron Dwarfism 42 46
Short Stature Due to Growth Hormone Resistance 48
Complete Growth Hormone Insensitivity 48
Laron Type Pituitary Dwarfism I 42
Primary Gh Insensitivity 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Endocrine diseases


Characteristics (Orphanet epidemiological data):

48
laron syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

Disease Ontology8 DOID:9521
OMIM46 262500
MeSH34 D046150
SNOMED-CT57 38196001
MESH via Orphanet35 D046150
ICD10 via Orphanet26 E34.3
UMLS via Orphanet63 C0271568

Related Diseases for Laron Syndrome

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Diseases related to Laron Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 127)
idRelated DiseaseScoreTop Affiliating Genes
1gigantism30.9GH1, IGF1
2insulin-like growth factor i deficiency30.8GHR, IGF1
3dwarfism30.7IL18R1, GH1, GHR, IGFBP3, IGF1
4hypothyroidism30.2LEPQTL1, IGFBP3, ADIPOQ
5diabetic retinopathy30.2IGFBP1, INS, IGF1
6short stature29.0INS, GH1, GHR, STAT5B, IGFBP1, IGF2
7hyperglycemia28.9IGFBP3, IGF1, IGFBP1, LEPQTL1, INS, ADIPOQ
8hyperandrogenism28.8LEPQTL1, IGFBP3, IGF1, IGF2, IGFBP1, INS
9obesity28.7IGFBP3, IGF1, IGFBP2, IGFBP1, INS, LEPQTL1
10growth hormone deficiency28.6INS, LEPQTL1, GH1, GHR, ADIPOQ, IGFBP1
11diabetes mellitus28.6IGFBP1, GH1, GHR, INS, IGFBP2, LEPQTL1
12pituitary gland disease10.4IGF1, GH1
13empty sella syndrome10.4IGF1, GH1
14gonadal disease10.4GH1, IGF1
15thyrotropin deficiency, isolated10.4IGF1, GH1
16acquired generalized lipodystrophy10.4ADIPOQ
17fibrous dysplasia10.4GH1, GHR
18silver-russell syndrome10.4IGF2
19adrenal gland hyperfunction10.4GHR, GH1
20craniopharyngioma10.4GH1, IGF1
21osteoporosis, postmenopausal10.3IGF1, GHR
22gamma chain deficiency10.3GHR, IL18R1
23hyperprolactinemia10.3GH1, IGF1
24panhypopituitarism10.3GH1, IGF1, GHR
25growth hormone insensitivity with immunodeficiency10.3
26biliary atresia10.3GHR, IGFBP1
27turner syndrome10.3GHR, IGF1, IGFBP3
28pituitary tumors10.3GH1, GHR, IGF1
29noonan syndrome10.3IGFBP3, GHR, IGF1
30acromegaly10.3IGFBP3, IGF1, GH1
31idiopathic juvenile osteoporosis10.3GH1, IGFBP3, IGF1
32donohue syndrome10.3INS
33pituitary adenoma10.3GH1, IGF1, GHR
34severe pre-eclampsia10.2LEPQTL1, IGFBP1
35aorta atresia10.2IGFBP3, IGFBP2
36syringomyelia10.2
37neurofibromatosis10.2
38chiari malformation10.2
39isolated growth hormone deficiency10.2
40li-fraumeni syndrome10.2IGFBP3, IGF2
41osteosclerosis10.2IGF2, IGFBP2
42juvenile rheumatoid arthritis10.2IGFBP3, IL18R1
43bell's palsy10.2
44blindness10.2
45marasmus10.2IGFBP3, LEPQTL1, GH1
46protein-energy malnutrition10.2IGFBP1, IGF1, LEPQTL1
47thyroid cancer10.2
48thyroiditis10.2
49obstructive sleep apnea10.2ADIPOQ, LEPQTL1
50primary hyperoxaluria10.1IL18R1, GHR, IGFBP2

Graphical network of the top 20 diseases related to Laron Syndrome:



Diseases related to laron syndrome

Symptoms for Laron Syndrome

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Symptoms by clinical synopsis from OMIM:

262500

Clinical features from OMIM:

262500

Symptoms:

48 (show all 31)
  • high forehead
  • facial dysmorphism
  • micrognathia/retrognathia/micrognathism/retrognathism
  • nasal atrophy/hypoplasia/arhinia/rudimentary nose
  • complete/partial microdontia
  • anodontia/oligodontia/hypodontia
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • anomalies of the endocrine glands
  • delayed bone age
  • autosomal recessive inheritance
  • truncal obesity
  • short stature/dwarfism/nanism
  • flat supraorbital ridge
  • elbow anomalies(excluding luxation)
  • short hand/brachydactyly
  • short foot/brachydactyly of toes
  • micropenis/small penis/agenesis
  • hypoglycemia
  • late puberty/hypogonadism/hypogenitalism
  • motor deficit/trouble
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • skull/cranial anomalies
  • blue sclerae
  • flattened nose
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • hairy patch
  • abnormal cry/voice/phonation disorder/nasal speech
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • osteoarthritis
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • premature ageing

HPO human phenotypes related to Laron Syndrome:

(show all 56)
id Description Frequency HPO Source Accession
1 everted lower lip vermilion hallmark (90%) HP:0000232
2 microcephaly hallmark (90%) HP:0000252
3 insulin resistance hallmark (90%) HP:0000855
4 abnormal facial shape hallmark (90%) HP:0001999
5 abnormality of lipid metabolism hallmark (90%) HP:0003119
6 short stature hallmark (90%) HP:0004322
7 micrognathia hallmark (90%) HP:0000347
8 high forehead hallmark (90%) HP:0000348
9 delayed eruption of teeth hallmark (90%) HP:0000684
10 microdontia hallmark (90%) HP:0000691
11 abnormality of the endocrine system hallmark (90%) HP:0000818
12 truncal obesity hallmark (90%) HP:0001956
13 abnormal facial shape hallmark (90%) HP:0001999
14 delayed skeletal maturation hallmark (90%) HP:0002750
15 short stature hallmark (90%) HP:0004322
16 reduced number of teeth hallmark (90%) HP:0009804
17 aplasia/hypoplasia involving the nose hallmark (90%) HP:0009924
18 delayed eruption of teeth typical (50%) HP:0000684
19 hypoglycemia typical (50%) HP:0001943
20 fine hair typical (50%) HP:0002213
21 delayed skeletal maturation typical (50%) HP:0002750
22 type ii diabetes mellitus typical (50%) HP:0005978
23 hypoplasia of penis typical (50%) HP:0008736
24 brachydactyly syndrome typical (50%) HP:0001156
25 short toe typical (50%) HP:0001831
26 hypoglycemia typical (50%) HP:0001943
27 amyotrophy typical (50%) HP:0003202
28 hypoplasia of penis typical (50%) HP:0008736
29 abnormality of the elbow typical (50%) HP:0009811
30 underdeveloped supraorbital ridges typical (50%) HP:0009891
31 abnormality of the fontanelles or cranial sutures occasional (7.5%) HP:0000235
32 hearing impairment occasional (7.5%) HP:0000365
33 diabetes insipidus occasional (7.5%) HP:0000873
34 abnormality of the nail occasional (7.5%) HP:0001597
35 abnormality of the voice occasional (7.5%) HP:0001608
36 truncal obesity occasional (7.5%) HP:0001956
37 abnormality of immune system physiology occasional (7.5%) HP:0010978
38 cognitive impairment occasional (7.5%) HP:0100543
39 depressed nasal ridge occasional (7.5%) HP:0000457
40 blue sclerae occasional (7.5%) HP:0000592
41 hypohidrosis occasional (7.5%) HP:0000966
42 hypertrichosis occasional (7.5%) HP:0000998
43 abnormality of the voice occasional (7.5%) HP:0001608
44 osteoarthritis occasional (7.5%) HP:0002758
45 abnormality of lipid metabolism occasional (7.5%) HP:0003119
46 prematurely aged appearance occasional (7.5%) HP:0007495
47 cognitive impairment occasional (7.5%) HP:0100543
48 autosomal recessive inheritance HP:0000007
49 small face HP:0000274
50 blue sclerae HP:0000592
51 abnormal joint morphology HP:0001367
52 high pitched voice HP:0001620
53 abnormality of metabolism/homeostasis HP:0001939
54 delayed skeletal maturation HP:0002750
55 short long bones HP:0003026
56 delayed menarche HP:0012569

Drugs & Therapeutics for Laron Syndrome

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Drug clinical trials:

Search ClinicalTrials for Laron Syndrome

Search NIH Clinical Center for Laron Syndrome

Genetic Tests for Laron Syndrome

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Genetic tests related to Laron Syndrome:

id Genetic test Affiliating Genes
1 Pituitary Dwarfism Ii20 GHR
2 Laron-Type Isolated Somatotropin Defect22

Anatomical Context for Laron Syndrome

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MalaCards organs/tissues related to Laron Syndrome:

32
Pituitary, Bone, Skin, Eye, Brain, Heart, Liver, Endothelial, Neutrophil

Animal Models for Laron Syndrome or affiliated genes

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Publications for Laron Syndrome

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Articles related to Laron Syndrome:

(show top 50)    (show all 124)
idTitleAuthorsYear
1
The E180splice mutation in the GHR gene causing Laron syndrome: witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World? (24664892)
2014
2
Cochlear hearing loss in patients with Laron syndrome. (21735352)
2012
3
NREM sleep architecture and relation to GH/IGF-1 axis in Laron syndrome. (20389115)
2010
4
Novel growth hormone receptor gene mutation in a patient with Laron syndrome. (20583548)
2010
5
IGF-I replacement therapy in children with congenital IGF-I deficiency (Laron syndrome) maintains heart dimension and function. (19117781)
2009
6
The type specimen (LB1) of Homo floresiensis did not have Laron syndrome. (19294744)
2009
7
Nonalcoholic fatty liver in patients with Laron syndrome and GH gene deletion - preliminary report. (18462969)
2008
8
Abnormalities of the axial and proximal appendicular skeleton in adults with Laron syndrome (growth hormone insensitivity). (17992526)
2008
9
Novel nonsense mutation (p.Y113X) in the human growth hormone receptor gene in a Brazilian patient with Laron syndrome]. (19169479)
2008
10
A novel growth hormone receptor gene deletion mutation in a patient with primary growth hormone insensitivity syndrome (Laron syndrome). (17728167)
2008
11
Identification of a novel mutation in the human growth hormone receptor gene (GHR) in a patient with Laron syndrome. (17849745)
2007
12
Obese adults with primary growth hormone resistance (Laron Syndrome) have normal endothelial function. (17320443)
2007
13
Long-term IGF-I treatment of children with Laron syndrome increases adiposity. (16442822)
2006
14
Insulinlike growth factor I affects ocular development: a study of untreated and treated patients with Laron syndrome. (16815402)
2006
15
For debate: did the small-bodied hominis from flores (Indonesia) suffer from a molecular defect in the growth hormone receptor gene (Laron syndrome)? (16816802)
2006
16
The intellectual capacity of patients with Laron syndrome (LS) differs with various molecular defects of the growth hormone receptor gene. Correlation with CNS abnormalities. (16372230)
2005
17
Laron syndrome (primary growth hormone insensitivity): a unique model to explore the effect of insulin-like growth factor 1 deficiency on human hair. (15178913)
2004
18
The first homozygous mutation (S226I) in the highly-conserved WSXWS- like motif of the GH receptor causing Laron syndrome: suppression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration. (14678285)
2004
19
Clinical, biochemical and molecular investigations of three Taiwanese children with Laron syndrome. (15055350)
2004
20
Laron syndrome (primary growth hormone resistance or insensitivity): the personal experience 1958-2003. (15001582)
2004
21
Effects of insulin-like growth factor-I deficiency and replacement therapy on the hematopoietic system in patients with Laron syndrome (primary growth hormone insensitivity). (12793602)
2003
22
A novel mutation of the growth hormone receptor gene (GHR) in a Chinese girl with Laron syndrome. (14594180)
2003
23
Laron syndrome. First report from Greece. (17003011)
2003
24
Laron syndrome abnormalities: spinal stenosis, os odontoideum, degenerative changes of the atlanto-odontoid joint, and small oropharynx. (11950656)
2002
25
GH and epidermal growth factor signaling in normal and Laron syndrome fibroblasts. (12072393)
2002
26
Severe obstructive sleep apnoea syndrome in an adult patient with Laron syndrome. (11735241)
2001
27
Lessons from the genetics of laron syndrome. (18406284)
1998
28
Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding affinity and intracellular trafficking of the growth hormone receptor. (9851797)
1998
29
Development of hyperandrogenism during treatment with insulin-like growth factor-I (IGF-I) in female patients with Laron syndrome. (9509072)
1998
30
Activation of the signal transducers and activators of transcription signaling pathway by growth hormone (GH) in skin fibroblasts from normal and GH binding protein-positive Laron Syndrome children. (9421393)
1998
31
Effect of insulin-like growth factor-I treatment on serum androgens and testicular and penile size in males with Laron syndrome (primary growth hormone resistance). (9506862)
1998
32
Intronic mutation in the growth hormone (GH) receptor gene from a girl with Laron syndrome and extremely high serum GH binding protein: extended phenotypic study in a very large pedigree. (9388817)
1997
33
A mammalian model for Laron syndrome produced by targeted disruption of the mouse growth hormone receptor/binding protein gene (the Laron mouse). (9371826)
1997
34
The growth hormone receptor gene mutation of a Japanese patient with Laron syndrome. (9290257)
1997
35
Insulin-like growth factor-I raises serum procollagen levels in children and adults with Laron syndrome. (8959080)
1996
36
Severe growth hormone insensitivity (Laron syndrome) due to nonsense mutation of the GH receptor in brothers from Russia. (8521189)
1995
37
Carbohydrate metabolism in primary growth hormone resistance (Laron syndrome) before and during insulin-like growth factor-I treatment. (7476303)
1995
38
A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization. (8137822)
1994
39
Serum growth hormone-binding protein (GHBP) activity is decreased by administration of insulin-like growth factor I in three Laron syndrome siblings with normal GHBP. (8016174)
1994
40
Laron syndrome: clinical features, molecular pathology and treatment. (7868073)
1994
41
Renal function in Laron syndrome patients treated by insulin-like growth factor-I. (7696105)
1994
42
A case of Laron syndrome diagnosed in Slovenia. (7735377)
1994
43
Decreased sweating in seven patients with Laron syndrome. (8370704)
1993
44
The effect of recombinant human insulin-like growth factor-I treatment on growth hormone secretion in two subjects with growth hormone insensitivity (Laron syndrome). (7688671)
1993
45
Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome. (8504296)
1993
46
Modulation of insulin like growth factor I (IGF-I) binding sites on erythrocytes by IGF-I treatment in patients with Laron syndrome (LS). (8265812)
1993
47
Growth curves for Laron syndrome. (8333769)
1993
48
Clinical features and endocrine status in patients with growth hormone insensitivity (Laron syndrome). (7505286)
1993
49
Amino acid substitutions in the intracellular part of the growth hormone receptor in a patient with the Laron syndrome. (8421103)
1993
50
Point mutations in the growth hormone receptor gene of patients with Laron syndrome. (1458008)
1992

Variations for Laron Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Laron Syndrome:

64 (show all 18)
id Symbol AA change Variation ID SNP ID
1GHRp.Arg89LysVAR_002709
2GHRp.Phe114SerVAR_002710
3GHRp.Val143AlaVAR_002711
4GHRp.Val162AspVAR_002712
5GHRp.Asp170HisVAR_002713
6GHRp.Arg179CysVAR_002714rs121909362
7GHRp.Arg229GlyVAR_002715
8GHRp.Cys440PheVAR_013939rs6182
9GHRp.Cys56SerVAR_018426
10GHRp.Ser58LeuVAR_018427
11GHRp.Trp68ArgVAR_018428
12GHRp.Pro149GlnVAR_018429
13GHRp.Ile171ThrVAR_018431
14GHRp.Gln172ProVAR_018432
15GHRp.Val173GlyVAR_018433
16GHRp.Tyr226CysVAR_018434
17GHRp.Ser244IleVAR_018435
18GHRp.Asp262AsnVAR_018436

Clinvar genetic disease variations for Laron Syndrome:

6 (show all 21)
id Gene Name Type Significance SNP ID Assembly Location
1GHRGHR, EX4,6DELdeletionPathogenic
2GHRNM_000163.4(GHR): c.341T> C (p.Phe114Ser)single nucleotide variantPathogenicrs121909357GRCh37Chr 5, 42695093: 42695093
3GHRNM_000163.4(GHR): c.181C> T (p.Arg61Ter)single nucleotide variantPathogenicrs121909358GRCh37Chr 5, 42689036: 42689036
4GHRNM_000163.4(GHR): c.168C> A (p.Cys56Ter)single nucleotide variantPathogenicrs121909359GRCh37Chr 5, 42689023: 42689023
5GHRNM_000163.4(GHR): c.594A> G (p.Glu198=)single nucleotide variantPathogenicrs121909360GRCh37Chr 5, 42700080: 42700080
6GHRNM_000163.4(GHR): c.703C> T (p.Arg235Ter)single nucleotide variantPathogenicrs121909363GRCh37Chr 5, 42711393: 42711393
7GHRGHR, IVS4DS, G-A, +1single nucleotide variantPathogenic
8GHRGHR, 2-BP DEL, FS51TERdeletionPathogenic
9GHRGHR, IVS6AS, G-T, -1single nucleotide variantPathogenic
10GHRGHR, 2-BP DEL, FS234TERdeletionPathogenic
11GHRNM_000163.4(GHR): c.515A> C (p.Gln172Pro)single nucleotide variantPathogenicrs121909368GRCh37Chr 5, 42700001: 42700001
12GHRNM_000163.4(GHR): c.518T> G (p.Val173Gly)single nucleotide variantPathogenicrs121909369GRCh37Chr 5, 42700004: 42700004
13GHRNM_000163.4(GHR): c.508G> C (p.Asp170His)single nucleotide variantPathogenicrs121909366GRCh37Chr 5, 42699994: 42699994
14GHRNM_000163.4(GHR): c.512T> C (p.Ile171Thr)single nucleotide variantPathogenicrs121909367GRCh37Chr 5, 42699998: 42699998
15GHRGHR, PSEUDOEXON(-1)A-Gsingle nucleotide variantPathogenic
16GHRGHR, 22-BP DELdeletionPathogenic
17GHRNM_000163.4(GHR): c.102G> A (p.Trp34Ter)single nucleotide variantPathogenicrs121909370GRCh37Chr 5, 42629171: 42629171
18GHRNM_000163.4(GHR): c.303C> A (p.Cys101Ter)single nucleotide variantPathogenicrs121909371GRCh37Chr 5, 42695055: 42695055
19GHRGHR, 1-BP DEL, 1776GdeletionPathogenic
20GHRNM_000163.4(GHR): c.335G> C (p.Cys112Ser)single nucleotide variantPathogenicrs121909372GRCh37Chr 5, 42695087: 42695087
21GHRNM_000163.4(GHR): c.504T> G (p.His168Gln)single nucleotide variantPathogenicrs121909373GRCh37Chr 5, 42699990: 42699990

Expression for genes affiliated with Laron Syndrome

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Expression patterns in normal tissues for genes affiliated with Laron Syndrome

Search GEO for disease gene expression data for Laron Syndrome.

Pathways for genes affiliated with Laron Syndrome

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Pathways related to Laron Syndrome according to GeneCards/GeneDecks:

(show all 35)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9IL18R1, STAT5B
29.7INS, IGF1
39.7STAT5B, INS
49.6GHR, GH1, STAT5B
5
Show member pathways
9.6STAT5B, GHR, GH1
6
Show member pathways
Type III interferon signaling37
9.6STAT5B, GHR, GH1
7
Show member pathways
9.6GH1, GHR, STAT5B
8
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events37
ErbB2/ErbB3 signaling events37
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
9.6INS, IGFBP3
99.6INS, IGFBP1
10
Show member pathways
9.5GH1, IGF2, IGF1
11
Show member pathways
9.4GH1, INS, IGF1
12
Show member pathways
Prolactin Signaling Pathway37
Development Prolactin receptor signaling60
Leptin signaling pathway37
9.4STAT5B, INS, GH1
139.3IGFBP3, INS, IGF1
149.3INS, IGFBP1, GHR
159.3IGF2, INS, IGF1
16
Show member pathways
9.3INS, IGF1, IGF2
17
Show member pathways
9.2STAT5B, GH1, IGF2, IGF1
18
Show member pathways
IL-9 Signaling Pathway37
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway37
Immune response IL 9 signaling pathway60
9.2INS, STAT5B, ADIPOQ
19
Show member pathways
9.2GH1, IL18R1, IGF1, IGF2
209.2GHR, GH1, INS, IGF1
21
Show member pathways
9.0INS, GH1, IGF2, IGF1
22
Show member pathways
9.0IGF1, IGF2, INS, GH1
239.0STAT5B, GH1, GHR, IGF2, IGF1
24
Show member pathways
9.0GHR, IGF2, IGF1, GH1, STAT5B
25
Show member pathways
Calcium Regulation in the Cardiac Cell37
8.9IGFBP1, IGFBP2, IGFBP3
26
Show member pathways
8.9STAT5B, IGF1, IL18R1, GH1, IGF2
27
Show member pathways
8.9IGF1, GH1, IGF2, STAT5B, IL18R1
28
Show member pathways
8.8GH1, INS, IL18R1, STAT5B, GHR
298.7ADIPOQ, INS, IGFBP2
308.6INS, ADIPOQ, STAT5B, GH1, IGF1
31
Show member pathways
8.4IGF2, STAT5B, INS, GHR, IGF1, GH1
32
Show member pathways
Immune response IL 4 signaling pathway60
Signal transduction AKT signaling60
8.3IGF2, IGFBP2, IGFBP1, IGF1, IGFBP3
338.3IGFBP1, IGFBP2, IGF1, IGFBP3, IGF2
34
Show member pathways
8.1IGF1, IGF2, STAT5B, IL18R1, GHR, GH1
35
Show member pathways
7.5IGF2, IGFBP3, IGF1, GH1, INS, IGFBP2

Compounds for genes affiliated with Laron Syndrome

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Compounds related to Laron Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 179)
idCompoundScoreTop Affiliating Genes
1lanreotide44 2810.2IGF1, IGFBP3, IGFBP1, GHR, GH1
2oxandrolone44 1110.0IGFBP3, GH1, IGF1, INS
3pegvisomant44 119.9GH1, GHR, IGFBP1, IGF2, IGF1, IGFBP3
4clomiphene citrate448.9IGFBP3, IGF1, IGFBP1, INS, GH1
5acipimox44 289.7ADIPOQ, LEPQTL1, INS, GH1, IGF1
6triiodothyronine448.4IGFBP3, IGF2, IGFBP1, LEPQTL1, GHR, IGF1
7metformin44 50 1110.3IGF1, GH1, LEPQTL1, ADIPOQ, INS, IGFBP1
8progestins448.2IL18R1, IGFBP1, GH1, IGFBP2, IGFBP3, IGF2
9deoxypyridinoline448.2IGF1, LEPQTL1, IGFBP3, IGFBP2, GH1, IGFBP1
10procollagen448.0IGFBP3, IGF1, IGFBP2, LEPQTL1, GHR, GH1
11progestin448.0IGFBP3, IGF1, IGFBP2, ADIPOQ, IGF2, IGFBP1
12rosiglitazone28 44 50 24 1112.0IGFBP3, IGFBP1, INS, LEPQTL1, ADIPOQ, GH1
13vitamin d447.8IGFBP3, IGF1, IGF2, IGFBP1, ADIPOQ, GHR
14ribonucleic acid447.8IGF2, IGFBP3, IGFBP2, IGFBP1, GHR, IGF1
15calcitriol44 61 24 1110.8IGFBP2, GH1, IGF1, IGFBP3, IGF2, IGFBP1
16prednisolone44 28 119.7LEPQTL1, IGFBP3, IGFBP2, IGF2, IL18R1, IGFBP1
17dihydrotestosterone44 28 24 1110.7IGFBP3, IGF1, IGFBP2, IGF2, IGFBP1, ADIPOQ
18p002447.6IGFBP2, IGF2, IGFBP1, LEPQTL1, ADIPOQ, STAT5B
19thymidine44 248.5IL18R1, IGFBP1, GHR, IGFBP2, IGF1, GH1
20tamoxifen44 50 28 1110.5IGFBP3, IGF1, IGFBP2, IGF2, IGFBP1, LEPQTL1
21octreotide44 61 28 1110.5IGFBP1, IGFBP3, IGF1, IGF2, INS, LEPQTL1
22dehydroepiandrosterone sulfate447.5GH1, GHR, ADIPOQ, LEPQTL1, INS, IGFBP1
23estrone44 28 24 1110.4GH1, IGFBP3, IGF1, ADIPOQ, LEPQTL1, IGFBP1
24creatinine447.4IGF1, IGFBP1, INS, LEPQTL1, IGF2, GHR
25fatty acid447.3GH1, GHR, STAT5B, ADIPOQ, SOAT1, LEPQTL1
26ly294002447.3INS, ADIPOQ, IGF1, IGF2, IGFBP2, IGFBP3
27hydrocortisone44 2 61 1110.3IGF1, IGFBP2, IGF2, IGFBP1, INS, LEPQTL1
28estradiol44 24 119.1IGFBP1, GH1, IGF2, IGFBP3, IGF1, IGFBP2
29cycloheximide447.1IGF1, STAT5B, IGFBP3, SOAT1, GHR, IGFBP1
30acth447.1IGFBP1, IGF2, IGFBP2, IGF1, IGFBP3, GH1
31gnrh447.1GH1, IGFBP3, IGF1, IGFBP2, IGF2, IGFBP1
32heparin44 28 24 1110.1IGFBP3, IGFBP2, IGFBP1, LEPQTL1, ADIPOQ, GH1
33dhea446.9ADIPOQ, LEPQTL1, INS, IGFBP1, IGF2, IGFBP2
34rapamycin446.8IGF1, IGFBP2, IGF2, IGFBP1, INS, SOAT1
35vegf446.7IGF1, IGFBP2, IGFBP3, IGF2, SOAT1, LEPQTL1
36thyroxine44 247.7GHR, GH1, ADIPOQ, LEPQTL1, INS, IGFBP3
37c-peptide446.7IGFBP3, IGF1, IGFBP2, GH1, GHR, ADIPOQ
38androstenedione44 247.6GH1, IGFBP3, IGF1, IGFBP2, GHR, ADIPOQ
39steroid446.6SOAT1, IL18R1, IGFBP1, GHR, GH1, LEPQTL1
40cholesterol44 28 24 119.6LEPQTL1, IGFBP3, IGF1, IGFBP2, IGFBP1, INS
41alanine446.5IGF2, IGFBP1, INS, LEPQTL1, SOAT1, ADIPOQ
42retinoic acid44 247.4IGFBP3, IGF1, IGFBP2, IGF2, IGFBP1, SOAT1
43progesterone44 28 61 24 1110.3GH1, IL18R1, GHR, IGFBP3, IGF1, IGFBP2
44phosphatidylinositol446.0IGF1, IGFBP2, IGF2, IGFBP1, INS, LEPQTL1
45testosterone44 61 24 119.0IGFBP3, IGF1, IGFBP2, IGF2, IGFBP1, INS
46serine445.9IL18R1, IGF2, SOAT1, ADIPOQ, STAT5B, GH1
47dexamethasone44 50 28 118.7LEPQTL1, SOAT1, ADIPOQ, IL18R1, GHR, GH1
48arginine445.7IL18R1, GHR, GH1, ADIPOQ, SOAT1, IGFBP3
49glucose445.4IGFBP3, IGF1, IGFBP2, IGF2, IGFBP1, INS
50estrogen445.4IL18R1, INS, LEPQTL1, SOAT1, ADIPOQ, STAT5B

GO Terms for genes affiliated with Laron Syndrome

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Cellular components related to Laron Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor binding protein complexGO:0169429.9IGF1, IGFBP3
2extracellular spaceGO:0056156.6GH1, IGFBP3, IGF1, IGFBP2, IGF2, IGFBP1
3extracellular regionGO:0055766.4IGFBP3, IGF1, IGFBP2, IGF2, IGFBP1, INS

Biological processes related to Laron Syndrome according to GeneCards/GeneDecks:

(show all 48)
idNameGO IDScoreTop Affiliating Genes
1isoleucine metabolic processGO:00654910.3STAT5B, GHR
2allantoin metabolic processGO:00025510.3STAT5B, GHR
3creatinine metabolic processGO:04644910.3STAT5B, GHR
4valine metabolic processGO:00657310.3GHR, STAT5B
5taurine metabolic processGO:01953010.3GHR, STAT5B
6citrate metabolic processGO:00610110.3GHR, STAT5B
7growth hormone receptor signaling pathwayGO:06039610.3GHR, GH1
8succinate metabolic processGO:00610510.2STAT5B, GHR
9creatine metabolic processGO:00660010.2STAT5B, GHR
10oxaloacetate metabolic processGO:00610710.2STAT5B, GHR
11insulin-like growth factor receptor signaling pathwayGO:04800910.2GHR, IGF1
12exocrine pancreas developmentGO:03101710.1IGF1, IGF2
13positive regulation of tyrosine phosphorylation of Stat5 proteinGO:04252310.1IGF1, GHR, GH1
142-oxoglutarate metabolic processGO:00610310.1STAT5B, GHR
15regulation of multicellular organism growthGO:04001410.1IGF1, STAT5B, GHR
16JAK-STAT cascade involved in growth hormone signaling pathwayGO:06039710.1GH1, GHR, STAT5B
17JAK-STAT cascadeGO:00725910.1STAT5B, GHR, GH1
18positive regulation of tyrosine phosphorylation of Stat3 proteinGO:04251710.1GH1, GHR
19positive regulation of multicellular organism growthGO:04001810.0GH1, GHR, STAT5B
20positive regulation of insulin-like growth factor receptor signaling pathwayGO:04356810.0GH1, IGF1, IGFBP3
21positive regulation of glycogen (starch) synthase activityGO:200046710.0IGF2, ADIPOQ
22positive regulation of glycolytic processGO:04582110.0INS, IGF1
23negative regulation of smooth muscle cell migrationGO:01491210.0ADIPOQ, IGFBP3
24regulation of glucose metabolic processGO:0109069.9ADIPOQ, IGFBP3
25positive regulation of insulin receptor signaling pathwayGO:0466289.9IGF2, INS
26negative regulation of gluconeogenesisGO:0457219.8INS, ADIPOQ
27positive regulation of phosphatidylinositol 3-kinase signalingGO:0140689.8GH1, INS, IGF1
28negative regulation of smooth muscle cell proliferationGO:0486629.7IGFBP3, ADIPOQ
29positive regulation of cellular protein metabolic processGO:0322709.7ADIPOQ, INS
30positive regulation of glycogen biosynthetic processGO:0457259.7INS, IGF2, IGF1
31positive regulation of cell differentiationGO:0455979.7INS, GHR
32positive regulation of mitosisGO:0458409.7IGF1, IGF2, INS
33positive regulation of DNA replicationGO:0457409.7INS, IGF1
34response to ethanolGO:0454719.7STAT5B, ADIPOQ, IGF2
35positive regulation of glucose importGO:0463269.7IGF1, INS, ADIPOQ
36negative regulation of ERK1 and ERK2 cascadeGO:0703739.7ADIPOQ, IGF1
37positive regulation of protein kinase B signalingGO:0518979.7IGF1, IGF2, INS
38cellular response to hormone stimulusGO:0328709.5GHR, STAT5B, IGFBP2
39positive regulation of MAPK cascadeGO:0434109.4IGFBP3, IGF1, IGF2, INS
40acute-phase responseGO:0069539.4STAT5B, INS
41glucose metabolic processGO:0060069.3IGF2, INS, ADIPOQ
42insulin receptor signaling pathwayGO:0082869.3INS, IGFBP1, IGF2
43response to glucocorticoidGO:0513849.3GHR, ADIPOQ, IGFBP2
44female pregnancyGO:0075659.3IGFBP2, IGF2, STAT5B
45positive regulation of activated T cell proliferationGO:0421049.1STAT5B, IGF2, IGFBP2, IGF1
46response to estradiolGO:0323558.9IGFBP2, IGF2, STAT5B, GHR, GH1
47positive regulation of peptidyl-tyrosine phosphorylationGO:0507318.7GH1, GHR, ADIPOQ, INS, IGF2, IGF1
48cellular protein metabolic processGO:0442678.2IGFBP3, IGF1, IGFBP2, IGF2, IGFBP1, INS

Molecular functions related to Laron Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor bindingGO:0055209.8IGFBP1, IGFBP3
2insulin-like growth factor receptor bindingGO:0051599.4INS, IGF2, IGF1
3insulin receptor bindingGO:0051589.3IGF1, IGF2, INS
4growth factor activityGO:0080839.2GH1, IGF2, IGF1
5insulin-like growth factor I bindingGO:0319949.2IGFBP3, IGFBP2
6hormone activityGO:0051798.7GH1, ADIPOQ, INS, IGF2, IGF1
7protein bindingGO:0055156.2IGFBP3, IGF1, IGFBP2, IGF2, INS, SOAT1

Products for genes affiliated with Laron Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Laron Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet