MCID: LRN002
MIFTS: 76

Laron Syndrome malady

Endocrine diseases category

Summaries for Laron Syndrome

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: Laron Syndrome, also known as laron-type isolated somatotropin defect, is related to dwarfism and obesity, 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 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 pituitary, bone and skin, and related mouse phenotypes are renal/urinary system and adipose tissue.

Wikipedia:63 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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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 22GTR, 46OMIM, 20GeneTests, 56SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Aliases & Descriptions:

laron syndrome 8 42 10 44 48 60
laron-type isolated somatotropin defect 8 22
growth hormone receptor deficiency 42 48
pituitary dwarfism ii 42 20
laron dwarfism 42 46
short stature due to growth hormone resistance 48
growth hormone insensitivity syndrome 42
complete growth hormone insensitivity 48
primary growth hormone insensitivity 48
primary growth hormone resistance 48
laron type pituitary dwarfism i 42
primary gh insensitivity 48
gh receptor deficiency 48
primary gh resistance 48
laron-type dwarfism 48


External Ids:

Disease Ontology8 DOID:9521
OMIM46 262500
MeSH34 D046150
MESH via Orphanet35 D046150
SNOMED-CT56 38196001
ICD10 via Orphanet26 E34.3
SNOMED-CT via Orphanet57 38196001
UMLS via Orphanet61 C0271568

Related Diseases for Laron Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Laron Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 162)
idRelated DiseaseScoreTop Affiliating Genes
1dwarfism30.5GHR, GH1, IGFBP3, IL18R1, IGF1
2obesity30.4GHR, SOAT1, IGFBP2, GH1, IGFBP1, ADIPOQ
3short stature30.1IGF1, STAT5B, GHR, GH1, IGF2, IGFBP1
4diabetic retinopathy30.0IGF1, INS, IGFBP1
5hypothyroidism30.0ADIPOQ, IGFBP3, LSL
6hyperglycemia30.0IGF1, IGFBP1, INS, GH1, LSL, IGFBP3
7hyperandrogenism30.0ADIPOQ, INS, IGF1, IGFBP3, IGFBP1, IGF2
8diabetes mellitus30.0ADIPOQ, INS, IGF1, IGFBP2, IGFBP1, IGFBP3
9adult syndrome10.6
10growth hormone insensitivity with immunodeficiency10.2
11neurofibromatosis10.2
12syringomyelia10.2
13bell's palsy10.1
14thyroid cancer10.1
15thyroiditis10.1
16spinal stenosis10.0
17michelin tire baby syndrome10.0
18multiple myeloma10.0IGF1
19peritonitis10.0IL18R1
20metabolic acidosis10.0IGF1
21werner syndrome10.0IGFBP3
22chronic fatigue syndrome10.0IGFBP1
23psoriasis10.0IL18R1
24gastrinoma10.0GH1
25acute myocardial infarction10.0IGFBP1
26silver-russell syndrome10.0IGF2
27renal osteodystrophy10.0IGFBP1
28sheehan syndrome10.0IGF1
29eating disorder10.0INS
30bulimia nervosa10.0LSL
31hyperprolactinemia10.0IGF1, GH1
32gigantism10.0IGF1, GH1
33rhabdomyosarcoma10.0IGF2
34blindness10.0INS
35hemangiopericytoma10.0IGF2
36pancreatitis10.0INS
37cystic fibrosis10.0INS
38hypoadrenalism10.0GH1
39prolactinoma10.0IGF1, GH1
40insulin-like growth factor i deficiency10.0IGF1, GHR
41severe combined immunodeficiency10.0IL18R1, STAT5B
42nephrotic syndrome10.0IGFBP2
43deficiency anemia10.0LSL
44pituitary gland disease10.0IGF1, GH1
45myeloid leukemia10.0STAT5B, IL18R1
46mental retardation10.0GHR
47leiomyoma10.0IGF2
48empty sella syndrome10.0IGF1, GH1
49gonadal disease10.0IGF1, GH1
50craniopharyngioma10.0GH1, IGF1

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



Diseases related to laron syndrome

Clinical Features for Laron Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

262500

Clinical synopsis from OMIM:

262500

Symptoms:

48 (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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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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20GeneTests, 22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Laron Syndrome:

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

Animal Models for Laron Syndrome or affiliated genes

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36MGI
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Publications for Laron Syndrome

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50PubMed
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Articles related to Laron Syndrome:

(show top 50)    (show all 126)
idTitleAuthorsYear
1
Diabetes mellitus with Laron syndrome: case report. (23729552)
2013
2
A cell therapy-based cure of the Laron Syndrome. (23218447)
2013
3
Reversal of experimental Laron Syndrome by xenotransplantation of microencapsulated porcine Sertoli cells. (22964394)
2013
4
Head circumference in untreated and IGF-I treated patients with Laron syndrome: comparison with untreated and hGH-treated children with isolated growth hormone deficiency. (22414926)
2012
5
Primary growth hormone insensitivity (Laron syndrome) and acquired hypothyroidism: a case report. (21745362)
2011
6
NREM sleep architecture and relation to GH/IGF-1 axis in Laron syndrome. (20389115)
2010
7
IGF-I replacement therapy in children with congenital IGF-I deficiency (Laron syndrome) maintains heart dimension and function. (19117781)
2009
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
Identification of a novel mutation in the human growth hormone receptor gene (GHR) in a patient with Laron syndrome. (17849745)
2007
11
Obese adults with primary growth hormone resistance (Laron Syndrome) have normal endothelial function. (17320443)
2007
12
Clinical features and growth hormone receptor gene mutations of patients with Laron syndrome from a Chinese family. (17706034)
2007
13
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
14
Development and biological function of the female gonads and genitalia in IGF-I deficiency -- Laron syndrome as a model. (16641857)
2006
15
Genetic analysis of the pedigrees and molecular defects of the GH-receptor gene in the Israeli cohort of patients with Laron syndrome. (17551471)
2006
16
Final height in a patient with Laron syndrome after long-term therapy with rhlGF-I and short-term therapy with LHRH-analogue and oxandrolone during puberty. (15952414)
2005
17
Novel growth hormone receptor mutation in a Chinese patient with Laron syndrome. (15751611)
2005
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
Primary GH insensitivity '(Laron syndrome) caused by a novel 4 kb deletion encompassing exon 5 of the GH receptor gene: effect of intermittent long-term treatment with recombinant human IGF-I. (15132718)
2004
22
Classical phenotype of Laron syndrome in a girl with a heterozygous mutation and heterozygous polymorphism of the growth hormone receptor gene. (15112915)
2004
23
Molecular defects of the growth hormone receptor gene, including a new mutation, in Laron syndrome patients in Israel: relationship between defects and ethnic groups. (15473594)
2004
24
A novel mutation of the growth hormone receptor gene (GHR) in a Chinese girl with Laron syndrome. (14594180)
2003
25
Laron syndrome. First report from Greece. (17003011)
2003
26
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
27
Pituitary size in patients with Laron syndrome (primary GH insensitivity). (12611615)
2003
28
Are adult patients with Laron syndrome osteopenic? A comparison between dual-energy X-ray absorptiometry and volumetric bone densities. (14557426)
2003
29
Intronic mutation in the growth hormone receptor gene in a Peruvian girl with Laron syndrome. (12199333)
2002
30
Natural history of the classical form of primary growth hormone (GH) resistance (Laron syndrome). (10698588)
1999
31
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
32
Serum leptin in obese patients with Laron syndrome before and during IGF-I treatment. (9829217)
1998
33
The growth hormone receptor gene mutation of a Japanese patient with Laron syndrome. (9290257)
1997
34
Long-term effects of insulin-like growth factor (IGF)-I on serum IGF-I, IGF-binding protein-3 and acid labile subunit in Laron syndrome patients with normal growth hormone binding protein. (9437227)
1997
35
Girls with Laron syndrome having positive growth hormone binding protein (GHBP) are less retarded in height than those lacking GHBP. (9388824)
1997
36
Five year treatment with IGF-I of a patient with Laron syndrome in Slovenia (a follow-up report). (9364374)
1997
37
Growth hormone receptor deficiency (Laron syndrome) in black African siblings. (8658300)
1996
38
Severe growth hormone insensitivity (Laron syndrome) due to nonsense mutation of the GH receptor in brothers from Russia. (8521189)
1995
39
Three year IGF-I treatment of children with Laron syndrome. (8521188)
1995
40
Prismatic cases: Laron syndrome (primary growth hormone resistance) from patient to laboratory to patient. (7744997)
1995
41
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
42
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
43
Growth curves for Laron syndrome. (8333769)
1993
44
Clinical features and endocrine status in patients with growth hormone insensitivity (Laron syndrome). (7505286)
1993
45
Body fat in Laron syndrome patients: effect of insulin-like growth factor I treatment. (8300045)
1993
46
An update on Laron syndrome. (8466235)
1993
47
Point mutations in the growth hormone receptor gene of patients with Laron syndrome. (1458008)
1992
48
Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome. (1284474)
1992
49
Clinical and biochemical characteristics of growth hormone receptor deficiency (Laron syndrome). (1458006)
1992
50
Effects of the infusion of insulin-like growth factor I in a child with growth hormone insensitivity syndrome (Laron dwarfism). (2023608)
1991

Genetic Variations for Laron Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Laron Syndrome:

62 (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

Expression for genes affiliated with Laron Syndrome

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1BioGPS, 15Gene 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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37NCBI BioSystems Database, 29KEGG, 53Reactome, 51QIAGEN, 12EMD Millipore, 52R&D Systems
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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

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Laron Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 156)
idCompoundScoreTop Affiliating Genes
1estradiol44 11 2412.2IGF2, GHR
2cycloheximide449.7IGFBP1, GHR, IGFBP2
3heparin44 28 11 2412.5GH1, IL18R1, ADIPOQ
4oxandrolone44 1110.4GH1, IGFBP3, IGF1, INS
5ghrp449.4GH1, IGFBP3, GHR, IGF1
6lanreotide44 2810.4IGFBP3, IGFBP1, GH1, GHR, IGF1
7gnrh449.2IGFBP3, IGFBP1, GH1, IGFBP2, GHR
8clomiphene citrate449.1IGF1, INS, GH1, IGFBP3, IGFBP1
9pegvisomant44 1110.1IGFBP3, IGF1, IGFBP1, IGF2, GHR, GH1
10rosiglitazone44 49 28 11 2413.1INS, IGFBP1, LSL
11serine449.0SOAT1, IL18R1, ADIPOQ, STAT5B, GH1
12dexamethasone44 49 28 1111.9INS, IGF2, GH1, SOAT1, ADIPOQ
13ly294002448.8STAT5B, IL18R1, IGFBP2, IGF2, ADIPOQ
14acipimox44 289.8ADIPOQ, LSL, GH1, IGF1, INS
15bromocriptine28 44 1110.7IGF2, GHR, GH1, IGFBP3, IGF1
16fatty acid448.7IGFBP1, GHR, STAT5B, SOAT1, LSL
17tamoxifen44 49 28 1111.7IGF1, LSL, IGF2, IGFBP1, IGFBP2
18progestins448.7GH1, IL18R1, IGFBP3, IGF2, IGFBP1, IGFBP2
19deoxypyridinoline448.6IGFBP3, IGFBP1, IGFBP2, IGF1, LSL, GH1
20progestin448.5IGFBP2, IGF1, ADIPOQ, IGFBP3, IGFBP1, IGF2
21triiodothyronine448.5LSL, GHR, IGF1, GH1, IGFBP1, IGFBP3
22metformin44 49 1110.4GH1, INS, IGFBP1, LSL, IGF1, ADIPOQ
23ribonucleic acid448.3GHR, IGF2, IGF1, GH1, IGFBP3, IGFBP2
24calcitriol44 59 11 2411.2IGF1, IGFBP2, IGFBP3, IGF2, GH1, IL18R1
25vitamin d448.2GHR, GH1, IGF2, ADIPOQ, IGFBP3, IGF1
26dihydrotestosterone44 28 11 2411.2GH1, GHR, IGFBP1, IGFBP3, IGFBP2, IGF1
27prednisolone44 28 1110.1GH1, IGF2, LSL, IGFBP1, IGFBP2, IL18R1
28p002448.0IGFBP1, LSL, IGF2, IGFBP2, ADIPOQ, STAT5B
29thymidine44 249.0IGF2, IGFBP3, GHR, GH1, IGFBP1, IL18R1
30glucose448.0LSL, SOAT1, IGF2, IGFBP3, IGFBP2, IGF1
31acth448.0IGF2, GHR, GH1, IGFBP1, IGFBP3, IGFBP2
32creatinine447.8INS, ADIPOQ, IGF2, LSL, IGF1, IGFBP3
33estrone44 28 11 2410.8LSL, GH1, IGF2, IGFBP1, IGFBP3, IGFBP2
34dehydroepiandrosterone sulfate447.7IGFBP3, IGF1, IGFBP1, LSL, GHR, GH1
35octreotide44 59 28 1110.6IGF2, IGFBP1, IGFBP3, IGF1, INS, ADIPOQ
36hydrocortisone44 2 59 1110.6GH1, IGFBP1, IGFBP2, INS, ADIPOQ, IGF2
37alanine447.6LSL, SOAT1, STAT5B, GH1, IGF2, INS
38rapamycin447.4IL18R1, SOAT1, STAT5B, IGF2, IGFBP1, IGFBP2
39dhea447.3LSL, GH1, IGF2, IGFBP1, IGFBP3, IGFBP2
40vegf447.1IGFBP2, LSL, IL18R1, SOAT1, GH1, IGF2
41androstenedione44 248.1INS, LSL, GHR, GH1, IGF2, IGFBP1
42c-peptide447.1IGFBP1, IGFBP3, IGFBP2, IGF1, INS, ADIPOQ
43thyroxine44 248.1GH1, GHR, LSL, ADIPOQ, INS, IGF1
44steroid447.1LSL, SOAT1, IGFBP2, GHR, GH1, IL18R1
45cholesterol44 28 11 2410.1GHR, IGFBP1, IGFBP3, IGFBP2, LSL, SOAT1
46retinoic acid44 248.0GH1, IGF2, GHR, SOAT1, STAT5B, IGFBP1
47progesterone44 59 28 11 2410.9IL18R1, IGF1, IGFBP2, IGFBP3, IGFBP1, IGF2
48testosterone44 59 11 249.6IGF1, IGFBP1, LSL, SOAT1, GHR, GH1
49phosphatidylinositol446.5IGF2, GHR, STAT5B, SOAT1, LSL, IGFBP1
50arginine446.3GH1, GHR, SOAT1, LSL, IGF2, IGFBP1

GO Terms for genes affiliated with Laron Syndrome

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16Gene 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:0056157.2INS, IGF1, IGFBP2, IGFBP3, IGFBP1, IGF2
3extracellular regionGO:0055767.0ADIPOQ, GHR, INS, IGF1, IGFBP2, IGFBP3

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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet