MCID: LRN002
MIFTS: 65

Laron Syndrome malady

Endocrine category

Summaries for Laron Syndrome

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 growth hormone deficiency and dwarfism, and has symptoms including osteoarthritis, autosomal recessive inheritance and motor deficit/trouble. An important gene associated with Laron Syndrome is GHR (growth hormone receptor), and among its related pathways are Senescence and Autophagy and Jak-STAT signaling pathway. The compounds estradiol and cycloheximide have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and brain, and related mouse phenotypes are renal/urinary system and adipose tissue.

Wikipedia:64 Laron syndrome, or Laron-type dwarfism, is an autosomal recessive disorder characterized by an... more...

Description from OMIM:47 262500

Aliases & Classifications for Laron Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Endocrine


Characteristics (Orphanet epidemiological data):

49
laron syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

laron syndrome 8 43 10 45 49 61
laron-type isolated somatotropin defect 8 22
growth hormone receptor deficiency 43 49
pituitary dwarfism ii 43 20
laron dwarfism 43 47
short stature due to growth hormone resistance 49
growth hormone insensitivity syndrome 43
complete growth hormone insensitivity 49
primary growth hormone insensitivity 49
primary growth hormone resistance 49
laron type pituitary dwarfism i 43
primary gh insensitivity 49
gh receptor deficiency 49
primary gh resistance 49
laron-type dwarfism 49


External Ids:

Disease Ontology8 DOID:9521
OMIM47 262500
MeSH35 D046150
MESH via Orphanet36 D046150
SNOMED-CT57 38196001
ICD10 via Orphanet26 E34.3
SNOMED-CT via Orphanet58 38196001
UMLS via Orphanet62 C0271568

Related Diseases for Laron Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 173)
idRelated DiseaseScoreTop Affiliating Genes
1growth hormone deficiency30.8LSL, GHR, GH1, IGF2, IGFBP1, IGFBP3
2dwarfism30.5IL18R1, IGF1, IGFBP3, GHR, GH1
3insulin resistance30.3ADIPOQ, IL18R1, INS, LSL, SOAT1, GHR
4short stature30.2STAT5B, GHR, GH1, INS, IGF1, IGFBP2
5gigantism30.2IGF1, GH1
6hyperandrogenism30.0LSL, GH1, IGF2, IGFBP1, IGFBP3, IGF1
7adult syndrome10.6
8n syndrome10.6
9char syndrome10.3
10bod syndrome10.3
11neurofibromatosis10.2
12syringomyelia10.2
13protein s deficiency10.2
14protein c deficiency10.2
15protein r deficiency10.2
16growth hormone insensitivity with immunodeficiency10.2
17isolated growth hormone deficiency10.2
18factor v deficiency10.2
19acid-labile subunit deficiency10.1
20thyroid cancer10.1
21diabetes mellitus, insulin-dependent-110.1
22west syndrome10.0
23spinal stenosis10.0
24arc syndrome10.0
25micro syndrome10.0
26short syndrome10.0
27michelin tire baby syndrome10.0
28multiple myeloma10.0IGF1
29peritonitis10.0IL18R1
30metabolic acidosis10.0IGF1
31werner syndrome10.0IGFBP3
32chronic fatigue syndrome10.0IGFBP1
33psoriasis10.0IL18R1
34gastrinoma10.0GH1
35acute myocardial infarction10.0IGFBP1
36silver-russell syndrome10.0IGF2
37renal osteodystrophy10.0IGFBP1
38sheehan syndrome10.0IGF1
39bulimia nervosa10.0LSL
40eating disorder10.0INS
41hyperprolactinemia10.0IGF1, GH1
42rhabdomyosarcoma10.0IGF2
43blindness10.0INS
44hemangiopericytoma10.0IGF2
45pancreatitis10.0INS
46cystic fibrosis10.0INS
47hypoadrenalism10.0GH1
48prolactinoma10.0IGF1, GH1
49insulin-like growth factor i deficiency10.0GHR, IGF1
50severe combined immunodeficiency10.0IL18R1, STAT5B

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



Diseases related to laron syndrome

Clinical Features for Laron Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

262500

Clinical synopsis from OMIM:

262500

Symptoms:

49 (show all 31)
  • osteoarthritis
  • 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
  • skull/cranial anomalies
  • anomalies of the endocrine glands
  • flattened nose
  • 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

Drugs & Therapeutics for Laron Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Laron Syndrome:

33
Skin, Liver, Brain, Heart, Skeletal muscle, Endothelial, Pituitary

Animal Models for Laron Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Laron Syndrome

Sources:
51PubMed
See all sources

Articles related to Laron Syndrome:

(show top 50)    (show all 130)
idTitleAuthorsYear
1
Cochlear hearing loss in patients with Laron syndrome. (21735352)
2012
2
Postprandial hyperglycemia corrected by IGF-I (IncrelexAr) in Laron syndrome. (22986916)
2012
3
The globe and orbit in Laron syndrome. (21757529)
2011
4
Anaesthetic management of a parturient with Laron syndrome. (21840205)
2011
5
Hand size and growth in untreated and IGF-I treated patients with Laron syndrome. (19492579)
2009
6
The obesity of patients with Laron Syndrome is not associated with excessive nutritional intake. (24345535)
2009
7
Total and high molecular weight adiponectin are elevated in patients with Laron syndrome despite marked obesity. (19755405)
2009
8
Nonalcoholic fatty liver in patients with Laron syndrome and GH gene deletion - preliminary report. (18462969)
2008
9
Comparative skeletal features between Homo floresiensis and patients with primary growth hormone insensitivity (Laron Syndrome). (17596857)
2007
10
Foot length before and during insulin-like growth factor-I treatment of children with laron syndrome compared to human growth hormone treatment of children with isolated growth hormone deficiency. (18341092)
2007
11
Growth hormone receptor gene mutations in two Italian patients with Laron Syndrome. (17598975)
2007
12
Insulinlike growth factor I affects ocular development: a study of untreated and treated patients with Laron syndrome. (16815402)
2006
13
Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome. (17089217)
2006
14
Body composition in untreated adult patients with Laron syndrome (primary GH insensitivity). (16817829)
2006
15
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
16
Diabetic retinopathy in two patients with congenital IGF-I deficiency (Laron syndrome). (15248828)
2004
17
A novel mutation of the growth hormone receptor gene (GHR) in a Chinese girl with Laron syndrome. (14594180)
2003
18
Heterozygous nonsense mutation in exon 3 of the growth hormone receptor (GHR) in severe GH insensitivity (Laron syndrome) and the issue of the origin and function of the GHRd3 isoform. (12679461)
2003
19
Laron syndrome abnormalities: spinal stenosis, os odontoideum, degenerative changes of the atlanto-odontoid joint, and small oropharynx. (11950656)
2002
20
GH and epidermal growth factor signaling in normal and Laron syndrome fibroblasts. (12072393)
2002
21
Novel mutation involving the translation initiation codon of the growth hormone receptor gene (GHR) in a patient with Laron syndrome. (12199334)
2002
22
Growth hormone insensitivity (Laron syndrome). (12424436)
2002
23
Serum insulin-like growth factor-I (IGF-I) levels during long-term IGF-I treatment of children and adults with primary GH resistance (Laron syndrome). (10392360)
1999
24
Is the Laron mouse an accurate model of Laron syndrome? (10527674)
1999
25
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
26
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
27
The growth hormone receptor gene mutation of a Japanese patient with Laron syndrome. (9290257)
1997
28
Muscle force and endurance in untreated and human growth hormone or insulin-like growth factor-I-treated patients with growth hormone deficiency or Laron syndrome. (9030966)
1997
29
Insulin-like growth factor-I raises serum procollagen levels in children and adults with Laron syndrome. (8959080)
1996
30
Laron syndrome: typical and atypical forms. (8853445)
1996
31
A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein. (8626815)
1996
32
Growth hormone insensitivity syndrome (Laron syndrome): main characteristics and effects of IGF1 treatment. (8767171)
1996
33
Severe growth hormone insensitivity (Laron syndrome) due to nonsense mutation of the GH receptor in brothers from Russia. (8521189)
1995
34
Carbohydrate metabolism in primary growth hormone resistance (Laron syndrome) before and during insulin-like growth factor-I treatment. (7476303)
1995
35
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
36
A case of Laron syndrome diagnosed in Slovenia. (7735377)
1994
37
IGF-I treatment of adult patients with Laron syndrome: preliminary results. (7530175)
1994
38
Decreased sweating in seven patients with Laron syndrome. (8370704)
1993
39
Characterization of a noncontiguous gene deletion of the growth hormone receptor in Laron's syndrome. (8077336)
1993
40
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
41
Clinical features and endocrine status in patients with growth hormone insensitivity (Laron syndrome). (7505286)
1993
42
Diverse growth hormone receptor gene mutations in Laron syndrome. (8488849)
1993
43
Genetic heterogeneity in Laron syndrome. (8219474)
1993
44
Effects of 17 months treatment using recombinant insulin-like growth factor-I in two children with growth hormone insensitivity (Laron) syndrome. (8334752)
1993
45
Point mutations in the growth hormone receptor gene of patients with Laron syndrome. (1458008)
1992
46
Stimulation of statural growth by recombinant insulin-like growth factor I in a child with growth hormone insensitivity syndrome (Laron type) (1403403)
1992
47
The chronicle of growth hormone receptor deficiency (Laron syndrome). (1458005)
1992
48
Treatment with recombinant human insulin-like growth factor I of children with growth hormone receptor deficiency (Laron syndrome). Kabi Pharmacia Study Group on Insulin-like Growth Factor I Treatment in Growth Hormone Insensitivity Syndromes. (1281024)
1992
49
Defective membrane expression of human growth hormone (GH) receptor causes Laron-type GH insensitivity syndrome. (1719554)
1991
50
Growth hormone receptor deficiency (Laron syndrome): clinical and genetic characteristics. (1785320)
1991

Genetic Variations for Laron Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Laron Syndrome:

63 (show all 18)
id Symbol AA change Variation 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

Expression for genes affiliated with Laron Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 30KEGG, 54Reactome, 52QIAGEN, 12EMD Millipore, 53R&D Systems
See all sources

Pathways related to Laron Syndrome according to GeneCards/GeneDecks:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0INS
29.9GH1, STAT5B
3
Hide members
9.7GH1, GHR, STAT5B
4
Hide members
9.6STAT5B, GHR, IL18R1
5
Development Prolactin receptor signaling
Hide members
9.5INS, GH1, STAT5B
69.4INS, IGFBP1, GHR
7
Hide members
9.4IGF2, IGF1, INS
8
Hide members
9.4INS, IGF1, IGF2
99.4IGF2, IGF1, INS
10
Hide members
9.3ADIPOQ, INS, STAT5B
119.3INS, IGF1, GH1, GHR
12
Hide members
9.1INS, IGF1, IGF2, GH1
139.1STAT5B, GHR, GH1, IGF2, IGF1
14
Hide members
9.1IGF1, IGF2, GH1, GHR, STAT5B
15
Hide members
9.0STAT5B, GH1, IGF2, IGF1, IL18R1
16
Translation Insulin regulation of translation
Hide members
9.0GHR, GH1, IGFBP3, IGF1, INS
178.8STAT5B, GH1, IGF1, INS, ADIPOQ
188.7IGF1, IGFBP2, IGFBP3, IGFBP1, IGF2
198.7IGF1, IGFBP2, IGFBP3, IGFBP1, IGF2
20
Hide members
8.5IGF2, IGFBP1, IGFBP3, IGFBP2, INS
21
Hide members
8.3STAT5B, GHR, GH1, IGF2, IGF1, INS

Compounds for genes affiliated with Laron Syndrome

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 50PharmGKB, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Laron Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 156)
idCompoundScoreTop Affiliating Genes
1estradiol45 11 2412.2IGF2, GHR
2cycloheximide459.7IGFBP1, GHR, IGFBP2
3heparin45 29 11 2412.5GH1, IL18R1, ADIPOQ
4oxandrolone45 1110.4GH1, IGFBP3, IGF1, INS
5ghrp459.4GH1, IGFBP3, GHR, IGF1
6lanreotide45 2910.4IGFBP3, IGFBP1, GH1, GHR, IGF1
7gnrh459.2IGFBP3, IGFBP1, GH1, IGFBP2, GHR
8clomiphene citrate459.1IGF1, INS, GH1, IGFBP3, IGFBP1
9pegvisomant45 1110.1IGFBP3, IGF1, IGFBP1, IGF2, GHR, GH1
10rosiglitazone45 50 29 11 2413.1INS, IGFBP1, LSL
11serine459.0SOAT1, IL18R1, ADIPOQ, STAT5B, GH1
12dexamethasone45 50 29 1111.9INS, IGF2, GH1, SOAT1, ADIPOQ
13ly294002458.8STAT5B, IL18R1, IGFBP2, IGF2, ADIPOQ
14acipimox45 299.8ADIPOQ, LSL, GH1, IGF1, INS
15bromocriptine29 45 1110.7IGF2, GHR, GH1, IGFBP3, IGF1
16fatty acid458.7IGFBP1, GHR, STAT5B, SOAT1, LSL
17tamoxifen45 50 29 1111.7IGF1, LSL, IGF2, IGFBP1, IGFBP2
18progestins458.7GH1, IL18R1, IGFBP3, IGF2, IGFBP1, IGFBP2
19deoxypyridinoline458.6IGFBP3, IGFBP1, IGFBP2, IGF1, LSL, GH1
20progestin458.5IGFBP2, IGF1, ADIPOQ, IGFBP3, IGFBP1, IGF2
21triiodothyronine458.5LSL, GHR, IGF1, GH1, IGFBP1, IGFBP3
22metformin45 50 1110.4GH1, INS, IGFBP1, LSL, IGF1, ADIPOQ
23ribonucleic acid458.3GHR, IGF2, IGF1, GH1, IGFBP3, IGFBP2
24calcitriol45 60 11 2411.2IGF1, IGFBP2, IGFBP3, IGF2, GH1, IL18R1
25vitamin d458.2GHR, GH1, IGF2, ADIPOQ, IGFBP3, IGF1
26dihydrotestosterone45 29 11 2411.2GH1, GHR, IGFBP1, IGFBP3, IGFBP2, IGF1
27prednisolone45 29 1110.1GH1, IGF2, LSL, IGFBP1, IGFBP2, IL18R1
28p002458.0IGFBP1, LSL, IGF2, IGFBP2, ADIPOQ, STAT5B
29thymidine45 249.0IGF2, IGFBP3, GHR, GH1, IGFBP1, IL18R1
30glucose458.0LSL, SOAT1, IGF2, IGFBP3, IGFBP2, IGF1
31acth458.0IGF2, GHR, GH1, IGFBP1, IGFBP3, IGFBP2
32creatinine457.8INS, ADIPOQ, IGF2, LSL, IGF1, IGFBP3
33estrone45 29 11 2410.8LSL, GH1, IGF2, IGFBP1, IGFBP3, IGFBP2
34dehydroepiandrosterone sulfate457.7IGFBP3, IGF1, IGFBP1, LSL, GHR, GH1
35octreotide45 60 29 1110.6IGF2, IGFBP1, IGFBP3, IGF1, INS, ADIPOQ
36hydrocortisone45 2 60 1110.6GH1, IGFBP1, IGFBP2, INS, ADIPOQ, IGF2
37alanine457.6LSL, SOAT1, STAT5B, GH1, IGF2, INS
38rapamycin457.4IL18R1, SOAT1, STAT5B, IGF2, IGFBP1, IGFBP2
39dhea457.3LSL, GH1, IGF2, IGFBP1, IGFBP3, IGFBP2
40vegf457.1IGFBP2, LSL, IL18R1, SOAT1, GH1, IGF2
41androstenedione45 248.1INS, LSL, GHR, GH1, IGF2, IGFBP1
42c-peptide457.1IGFBP1, IGFBP3, IGFBP2, IGF1, INS, ADIPOQ
43thyroxine45 248.1GH1, GHR, LSL, ADIPOQ, INS, IGF1
44steroid457.1LSL, SOAT1, IGFBP2, GHR, GH1, IL18R1
45cholesterol45 29 11 2410.1GHR, IGFBP1, IGFBP3, IGFBP2, LSL, SOAT1
46retinoic acid45 248.0GH1, IGF2, GHR, SOAT1, STAT5B, IGFBP1
47progesterone45 60 29 11 2410.9IL18R1, IGF1, IGFBP2, IGFBP3, IGFBP1, IGF2
48testosterone45 60 11 249.6IGF1, IGFBP1, LSL, SOAT1, GHR, GH1
49phosphatidylinositol456.5IGF2, GHR, STAT5B, SOAT1, LSL, IGFBP1
50arginine456.3GH1, GHR, SOAT1, LSL, IGF2, IGFBP1

GO Terms for genes affiliated with Laron Syndrome

Sources:
16Gene Ontology
See all sources

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:0056157.2ADIPOQ, GHR, GH1, IGF2, IGFBP1, IGFBP3
3extracellular regionGO:0055767.0GHR, GH1, IGF2, IGFBP1, IGFBP3, IGFBP2

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

(show all 39)
idNameGO IDScoreTop Affiliating Genes
1allantoin metabolic processGO:00025510.3GHR, STAT5B
2isoleucine metabolic processGO:00654910.3GHR, STAT5B
3creatinine metabolic processGO:04644910.3GHR, STAT5B
4taurine metabolic processGO:01953010.3STAT5B, GHR
5valine metabolic processGO:00657310.3STAT5B, GHR
6citrate metabolic processGO:00610110.3GHR, STAT5B
7growth hormone receptor signaling pathwayGO:06039610.2GHR, GH1
8succinate metabolic processGO:00610510.2STAT5B, GHR
9oxaloacetate metabolic processGO:00610710.2STAT5B, GHR
10creatine metabolic processGO:00660010.1GHR, STAT5B
11positive regulation of tyrosine phosphorylation of Stat5 proteinGO:04252310.1GHR, GH1, IGF1
12regulation of multicellular organism growthGO:04001410.1STAT5B, GHR, IGF1
13JAK-STAT cascade involved in growth hormone signaling pathwayGO:06039710.1STAT5B, GHR, GH1
14JAK-STAT cascadeGO:00725910.1STAT5B, GHR, GH1
15positive regulation of insulin-like growth factor receptor signaling pathwayGO:04356810.1GH1, IGFBP3, IGF1
16positive regulation of multicellular organism growthGO:04001810.1STAT5B, GHR, GH1
17positive regulation of glycogen (starch) synthase activityGO:200046710.0ADIPOQ, IGF2
18negative regulation of smooth muscle cell migrationGO:01491210.0IGFBP3, ADIPOQ
19positive regulation of insulin receptor signaling pathwayGO:0466289.9INS, IGF2
20positive regulation of glycolysisGO:0458219.9INS, IGF1
21insulin-like growth factor receptor signaling pathwayGO:0480099.9GHR, IGF1
22regulation of glucose metabolic processGO:0109069.9IGFBP3, ADIPOQ
23negative regulation of gluconeogenesisGO:0457219.9INS, ADIPOQ
24positive regulation of phosphatidylinositol 3-kinase cascadeGO:0140689.8GH1, IGF1, INS
25cellular response to hormone stimulusGO:0328709.8STAT5B, GHR, IGFBP2
26positive regulation of glycogen biosynthetic processGO:0457259.8INS, IGF1, IGF2
27positive regulation of mitosisGO:0458409.8IGF2, IGF1, INS
28positive regulation of glucose importGO:0463269.7IGF1, INS, ADIPOQ
29positive regulation of protein kinase B signaling cascadeGO:0518979.7IGF2, IGF1, INS
30positive regulation of cellular protein metabolic processGO:0322709.7ADIPOQ, INS
312-oxoglutarate metabolic processGO:0061039.7GHR, STAT5B
32response to glucocorticoid stimulusGO:0513849.6ADIPOQ, IGFBP2, GHR
33response to estradiol stimulusGO:0323559.6STAT5B, GHR, GH1, IGFBP2
34positive regulation of MAPK cascadeGO:0434109.5INS, IGF1, IGFBP3, IGF2
35positive regulation of activated T cell proliferationGO:0421049.5STAT5B, IGF2, IGFBP2, IGF1
36insulin receptor signaling pathwayGO:0082869.3INS, IGFBP1, IGF2
37glucose metabolic processGO:0060069.2ADIPOQ, INS, IGF2
38positive regulation of peptidyl-tyrosine phosphorylationGO:0507318.9ADIPOQ, INS, IGF1, IGF2, GH1, GHR
39cellular protein metabolic processGO:0442678.6IGF2, IGFBP1, IGFBP3, IGFBP2, IGF1, INS

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

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor bindingGO:0055209.8IGFBP3, IGFBP1
2insulin-like growth factor I bindingGO:0319949.6IGFBP3, IGFBP2
3insulin-like growth factor receptor bindingGO:0051599.5IGF2, IGF1, INS
4insulin receptor bindingGO:0051589.4INS, IGF1, IGF2
5hormone activityGO:0051798.8ADIPOQ, INS, IGF1, IGF2, GH1
6protein bindingGO:0055156.5SOAT1, STAT5B, GHR, GH1, IGF2, IGFBP3

Products for genes affiliated with Laron Syndrome

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  • Lysates
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Sources for Laron Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet