MCID: LRN002
MIFTS: 76

Laron Syndrome malady

Genetic diseases, Rare diseases, Endocrine diseases categories

Summaries for Laron Syndrome

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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: Laron Syndrome, also known as laron-type isolated somatotropin defect, is related to dwarfism and gigantism, and has symptoms including micropenis/small penis/agenesis, premature ageing and anodontia/oligodontia/hypodontia. 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:66 Laron syndrome, or Laron-type dwarfism, is an autosomal recessive disorder characterized by an... more...

Description from OMIM:48 262500

Aliases & Classifications for Laron Syndrome

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9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 23GTR, 48OMIM, 21GeneTests, 36MeSH, 59SNOMED-CT, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

50
laron syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

laron syndrome 9 44 11 46 50 63
laron-type isolated somatotropin defect 9 23
primary growth hormone insensitivity 44 50
growth hormone receptor deficiency 44 50
primary growth hormone resistance 44 50
pituitary dwarfism ii 44 21
laron dwarfism 44 48
short stature due to growth hormone resistance 50
growth hormone insensitivity syndrome 44
complete growth hormone insensitivity 50
laron type pituitary dwarfism i 44
primary gh insensitivity 50
gh receptor deficiency 50
primary gh resistance 50
laron-type dwarfism 50


External Ids:

Disease Ontology9 DOID:9521
OMIM48 262500
MeSH36 D046150
MESH via Orphanet37 D046150
SNOMED-CT59 38196001
ICD10 via Orphanet27 E34.3
SNOMED-CT via Orphanet60 38196001
UMLS via Orphanet64 C0271568

Related Diseases for Laron Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Laron Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 129)
idRelated DiseaseScoreTop Affiliating Genes
1dwarfism30.6IL18R1, GH1, GHR, IGFBP3, IGF1
2gigantism30.4GH1, IGF1
3insulin-like growth factor i deficiency30.3GHR, IGF1
4obesity30.1IGFBP3, IGF1, IGFBP2, IGFBP1, INS, LEPQTL1
5hypothyroidism30.1LEPQTL1, IGFBP3, ADIPOQ
6diabetic retinopathy30.1IGFBP1, INS, IGF1
7growth hormone deficiency30.0INS, LEPQTL1, GH1, GHR, ADIPOQ, IGFBP1
8short stature30.0INS, GH1, GHR, STAT5B, IGFBP1, IGF2
9hyperglycemia29.8IGFBP3, IGF1, IGFBP1, LEPQTL1, INS, ADIPOQ
10hyperandrogenism29.8LEPQTL1, IGFBP3, IGF1, IGF2, IGFBP1, INS
11diabetes mellitus29.7IGFBP1, GH1, GHR, INS, IGFBP2, LEPQTL1
12neurofibromatosis10.2
13syringomyelia10.2
14chiari malformation10.2
15growth hormone insensitivity with immunodeficiency10.2
16isolated growth hormone deficiency10.2
17bell's palsy10.2
18blindness10.2
19thyroid cancer10.2
20thyroiditis10.2
21pituitary gland disease10.1IGF1, GH1
22empty sella syndrome10.1IGF1, GH1
23gonadal disease10.1GH1, IGF1
24thyrotropin deficiency, isolated10.1IGF1, GH1
25acquired generalized lipodystrophy10.1ADIPOQ
26fibrous dysplasia10.1GH1, GHR
27silver-russell syndrome10.1IGF2
28adrenal gland hyperfunction10.1GHR, GH1
29craniopharyngioma10.1GH1, IGF1
30osteoporosis, postmenopausal10.1IGF1, GHR
31gamma chain deficiency10.1GHR, IL18R1
32hyperprolactinemia10.1GH1, IGF1
33panhypopituitarism10.1GH1, IGF1, GHR
34biliary atresia10.1GHR, IGFBP1
35turner syndrome10.1GHR, IGF1, IGFBP3
36spinal stenosis10.1
37michelin tire baby syndrome10.1
38endotheliitis10.1
39pituitary tumors10.1GH1, GHR, IGF1
40noonan syndrome10.1IGFBP3, GHR, IGF1
41acromegaly10.1IGFBP3, IGF1, GH1
42idiopathic juvenile osteoporosis10.1GH1, IGFBP3, IGF1
43donohue syndrome10.1INS
44pituitary adenoma10.1GH1, IGF1, GHR
45severe pre-eclampsia10.1LEPQTL1, IGFBP1
46aorta atresia10.1IGFBP3, IGFBP2
47li-fraumeni syndrome10.0IGFBP3, IGF2
48osteosclerosis10.0IGF2, IGFBP2
49juvenile rheumatoid arthritis10.0IGFBP3, IL18R1
50marasmus10.0IGFBP3, LEPQTL1, GH1

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



Diseases related to laron syndrome

Symptoms for Laron Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

262500

Clinical features from OMIM:

262500

Symptoms:

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

Drugs & Therapeutics for Laron Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Laron Syndrome

Drug clinical trials:

Search ClinicalTrials for Laron Syndrome

Search NIH Clinical Center for Laron Syndrome

Search CenterWatch for Laron Syndrome

Genetic Tests for Laron Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Laron Syndrome:

id Genetic test Affiliating Genes
1 Pituitary Dwarfism Ii21 GHR
2 Laron-Type Isolated Somatotropin Defect23

Anatomical Context for Laron Syndrome

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34MalaCards
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MalaCards organs/tissues related to Laron Syndrome:

34
Pituitary, Bone, Skin, Eye, Liver, Brain, Heart, Endothelial

Animal Models for Laron Syndrome or affiliated genes

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38MGI
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Publications for Laron Syndrome

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53PubMed
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Articles related to Laron Syndrome:

(show top 50)    (show all 121)
idTitleAuthorsYear
1
Cochlear hearing loss in patients with Laron syndrome. (21735352)
2012
2
NREM sleep architecture and relation to GH/IGF-1 axis in Laron syndrome. (20389115)
2010
3
Novel growth hormone receptor gene mutation in a patient with Laron syndrome. (20583548)
2010
4
IGF-I replacement therapy in children with congenital IGF-I deficiency (Laron syndrome) maintains heart dimension and function. (19117781)
2009
5
The type specimen (LB1) of Homo floresiensis did not have Laron syndrome. (19294744)
2009
6
Hand size and growth in untreated and IGF-I treated patients with Laron syndrome. (19492579)
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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Laron Syndrome:

65 (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:

1 (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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2BioGPS, 16Gene Expression Omnibus DataSets
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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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Sources:
51PathCards, 61Thomson Reuters, 31KEGG, 39NCBI BioSystems Database, 56Reactome, 13EMD Millipore, 54QIAGEN, 55R&D Systems, 5Cell Signaling Technology
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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 signaling39
9.6STAT5B, GHR, GH1
7
Show member pathways
9.6GH1, GHR, STAT5B
8
Show member pathways
Transcription Receptor mediated HIF regulation61
Development CNTF receptor signaling61
Class IB PI3K non-lipid kinase events39
ErbB2/ErbB3 signaling events39
Development Growth hormone signaling via PI3K AKT and MAPK cascades61
Translation Regulation activity of EIF261
Regulation of lipid metabolism Insulin signaling generic cascades61
Transcription PPAR Pathway61
Cell adhesion PLAU signaling61
Translation Regulation activity of EIF4F61
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 Pathway39
Development Prolactin receptor signaling61
Leptin signaling pathway39
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 Pathway39
Development Thrombopoietin regulated cell processes61
IL-7 Signaling Pathway39
Immune response IL 9 signaling pathway61
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 Cell39
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 pathway61
Signal transduction AKT signaling61
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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46Novoseek, 30IUPHAR, 12DrugBank, 52PharmGKB, 25HMDB, 62Tocris Bioscience, 3BitterDB
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Compounds related to Laron Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 179)
idCompoundScoreTop Affiliating Genes
1lanreotide46 3010.2IGF1, IGFBP3, IGFBP1, GHR, GH1
2oxandrolone46 1210.0IGFBP3, GH1, IGF1, INS
3pegvisomant46 129.9GH1, GHR, IGFBP1, IGF2, IGF1, IGFBP3
4clomiphene citrate468.9IGFBP3, IGF1, IGFBP1, INS, GH1
5acipimox46 309.7ADIPOQ, LEPQTL1, INS, GH1, IGF1
6triiodothyronine468.4IGFBP3, IGF2, IGFBP1, LEPQTL1, GHR, IGF1
7metformin46 52 1210.3IGF1, GH1, LEPQTL1, ADIPOQ, INS, IGFBP1
8progestins468.2IL18R1, IGFBP1, GH1, IGFBP2, IGFBP3, IGF2
9deoxypyridinoline468.2IGF1, LEPQTL1, IGFBP3, IGFBP2, GH1, IGFBP1
10procollagen468.0IGFBP3, IGF1, IGFBP2, LEPQTL1, GHR, GH1
11progestin468.0IGFBP3, IGF1, IGFBP2, ADIPOQ, IGF2, IGFBP1
12rosiglitazone30 46 52 25 1212.0IGFBP3, IGFBP1, INS, LEPQTL1, ADIPOQ, GH1
13vitamin d467.8IGFBP3, IGF1, IGF2, IGFBP1, ADIPOQ, GHR
14ribonucleic acid467.8IGF2, IGFBP3, IGFBP2, IGFBP1, GHR, IGF1
15calcitriol46 62 25 1210.8IGFBP2, GH1, IGF1, IGFBP3, IGF2, IGFBP1
16prednisolone46 30 129.7LEPQTL1, IGFBP3, IGFBP2, IGF2, IL18R1, IGFBP1
17dihydrotestosterone46 30 25 1210.7IGFBP3, IGF1, IGFBP2, IGF2, IGFBP1, ADIPOQ
18p002467.6IGFBP2, IGF2, IGFBP1, LEPQTL1, ADIPOQ, STAT5B
19thymidine46 258.5IL18R1, IGFBP1, GHR, IGFBP2, IGF1, GH1
20tamoxifen46 52 30 1210.5IGFBP3, IGF1, IGFBP2, IGF2, IGFBP1, LEPQTL1
21octreotide46 62 30 1210.5IGFBP1, IGFBP3, IGF1, IGF2, INS, LEPQTL1
22dehydroepiandrosterone sulfate467.5GH1, GHR, ADIPOQ, LEPQTL1, INS, IGFBP1
23estrone46 30 25 1210.4GH1, IGFBP3, IGF1, ADIPOQ, LEPQTL1, IGFBP1
24creatinine467.4IGF1, IGFBP1, INS, LEPQTL1, IGF2, GHR
25fatty acid467.3GH1, GHR, STAT5B, ADIPOQ, SOAT1, LEPQTL1
26ly294002467.3INS, ADIPOQ, IGF1, IGF2, IGFBP2, IGFBP3
27hydrocortisone46 3 62 1210.3IGF1, IGFBP2, IGF2, IGFBP1, INS, LEPQTL1
28estradiol46 25 129.1IGFBP1, GH1, IGF2, IGFBP3, IGF1, IGFBP2
29cycloheximide467.1IGF1, STAT5B, IGFBP3, SOAT1, GHR, IGFBP1
30acth467.1IGFBP1, IGF2, IGFBP2, IGF1, IGFBP3, GH1
31gnrh467.1GH1, IGFBP3, IGF1, IGFBP2, IGF2, IGFBP1
32heparin46 30 25 1210.1IGFBP3, IGFBP2, IGFBP1, LEPQTL1, ADIPOQ, GH1
33dhea466.9ADIPOQ, LEPQTL1, INS, IGFBP1, IGF2, IGFBP2
34rapamycin466.8IGF1, IGFBP2, IGF2, IGFBP1, INS, SOAT1
35vegf466.7IGF1, IGFBP2, IGFBP3, IGF2, SOAT1, LEPQTL1
36thyroxine46 257.7GHR, GH1, ADIPOQ, LEPQTL1, INS, IGFBP3
37c-peptide466.7IGFBP3, IGF1, IGFBP2, GH1, GHR, ADIPOQ
38androstenedione46 257.6GH1, IGFBP3, IGF1, IGFBP2, GHR, ADIPOQ
39steroid466.6SOAT1, IL18R1, IGFBP1, GHR, GH1, LEPQTL1
40cholesterol46 30 25 129.6LEPQTL1, IGFBP3, IGF1, IGFBP2, IGFBP1, INS
41alanine466.5IGF2, IGFBP1, INS, LEPQTL1, SOAT1, ADIPOQ
42retinoic acid46 257.4IGFBP3, IGF1, IGFBP2, IGF2, IGFBP1, SOAT1
43progesterone46 30 62 25 1210.3GH1, IL18R1, GHR, IGFBP3, IGF1, IGFBP2
44phosphatidylinositol466.0IGF1, IGFBP2, IGF2, IGFBP1, INS, LEPQTL1
45testosterone46 62 25 129.0IGFBP3, IGF1, IGFBP2, IGF2, IGFBP1, INS
46serine465.9IL18R1, IGF2, SOAT1, ADIPOQ, STAT5B, GH1
47dexamethasone46 52 30 128.7LEPQTL1, SOAT1, ADIPOQ, IL18R1, GHR, GH1
48arginine465.7IL18R1, GHR, GH1, ADIPOQ, SOAT1, IGFBP3
49glucose465.4IGFBP3, IGF1, IGFBP2, IGF2, IGFBP1, INS
50estrogen465.4IL18R1, INS, LEPQTL1, SOAT1, ADIPOQ, STAT5B

GO Terms for genes affiliated with Laron Syndrome

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Sources:
17Gene Ontology
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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
  • Antibodies

Sources for Laron Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet