MCID: LRN002
MIFTS: 62

Laron Syndrome

Categories: Genetic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Laron Syndrome

MalaCards integrated aliases for Laron Syndrome:

Name: Laron Syndrome 57 12 53 25 59 75 37 55 44 15 40 73
Growth Hormone Receptor Deficiency 57 53 25 59 75
Laron Dwarfism 57 53 25 75 13
Laron-Type Isolated Somatotropin Defect 12 25 29 6
Growth Hormone Insensitivity Syndrome 57 53 25 75
Pituitary Dwarfism Ii 57 53 25 75
Primary Growth Hormone Resistance 53 25 59
Laron-Type Dwarfism 76 25 59
Primary Growth Hormone Insensitivity 53 59
Laron Type Pituitary Dwarfism I 53 75
Primary Gh Resistance 25 59
Short Stature Due to Growth Hormone Resistance 59
Complete Growth Hormone Insensitivity 59
Growth Hormone Receptor Defect 25
Laron-Type Pituitary Dwarfism 25
Laron-Type Short Stature 25
Primary Gh Insensitivity 59
Severe Gh Insensitivity 25
Gh Receptor Deficiency 59
Gh-R Deficiency 25
Lars 75

Characteristics:

Orphanet epidemiological data:

59
laron syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive.


HPO:

32
laron syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Laron Syndrome

OMIM : 57 Laron syndrome is an autosomal recessive disorder characterized by marked short stature that results from failure to generate insulin-like growth factor I (IGF1; 147440) in response to growth hormone (GH; 139250). GH levels are normal or increased. The disorder is caused by dysfunction of the growth hormone receptor. A Laron syndrome-like phenotype associated with immunodeficiency (245590) is caused by a postreceptor defect, i.e., mutation in the STAT5B gene (604260). Patients with mutations in the GHR gene that cause only partial insensitivity to growth hormone have a form of short stature (604271). (262500)

MalaCards based summary : Laron Syndrome, also known as growth hormone receptor deficiency, is related to dwarfism and isolated growth hormone deficiency. An important gene associated with Laron Syndrome is GHR (Growth Hormone Receptor), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and Cytokine-cytokine receptor interaction. The drugs Hormones and insulin have been mentioned in the context of this disorder. Affiliated tissues include pituitary, brain and bone, and related phenotypes are micrognathia and high forehead

Genetics Home Reference : 25 Laron syndrome is a rare form of short stature that results from the body's inability to use growth hormone, a substance produced by the brain's pituitary gland that helps promote growth. Affected individuals are close to normal size at birth, but they experience slow growth from early childhood that results in very short stature. If the condition is not treated, adult males typically reach a maximum height of about 4.5 feet; adult females may be just over 4 feet tall.

NIH Rare Diseases : 53 Laron syndrome is a condition that occurs when the body is unable to utilize growth hormone. It is primarily characterized by short stature. Other signs and symptoms vary but may include reduced muscle strength and endurance; hypoglycemia in infancy; delayed puberty; short limbs (arms and legs); and obesity. It is often caused by changes (mutations) in the GHR gene and is inherited in an autosomal recessive manner. Treatment is focused on improving growth and generally includes injections of insulin-like growth factor 1 (IGF-1).

UniProtKB/Swiss-Prot : 75 Laron syndrome: A severe form of growth hormone insensitivity characterized by growth impairment, short stature, dysfunctional growth hormone receptor, and failure to generate insulin-like growth factor I in response to growth hormone.

Wikipedia : 76 Laron\'s syndrome, or Laron-type dwarfism, is an autosomal recessive disorder characterized by an... more...

Related Diseases for Laron Syndrome

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

(show top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 dwarfism 31.3 GH1 GHR
2 isolated growth hormone deficiency 29.9 GH1 GHR IGF1
3 growth hormone deficiency 29.6 GH1 IGF1 IGFBP3
4 hypothyroidism 29.1 GH1 IGF1 IGFBP3
5 acromegaly 28.7 GH1 GHR IGF1 IGF2 IGFBP3
6 insulin-like growth factor i 28.6 GH1 GHR IGF1 IGF2 IGFBP3
7 diabetes mellitus, noninsulin-dependent 28.2 GH1 IGF1 IGF2 IGFBP3
8 growth hormone insensitivity with immunodeficiency 12.0
9 infantile liver failure syndrome 1 11.3
10 pyuria 11.3
11 growth hormone insensitivity, partial 11.2
12 rectal neoplasm 11.1
13 hernia, hiatus 11.0
14 retinitis pigmentosa 66 11.0
15 osmotic diarrhea 11.0
16 syndromic x-linked intellectual disability snyder type 11.0
17 conjugate gaze palsy 11.0
18 patellofemoral pain syndrome 11.0
19 chronic salpingitis 11.0
20 skin creases, congenital symmetric circumferential, 1 10.9
21 non-functioning pituitary adenoma 10.4 GH1 GHR
22 acromesomelic dysplasia, maroteaux type 10.4 GHR IGF1
23 pseudohypoparathyroidism, type ia 10.4 GH1 IGF1
24 functioning pituitary adenoma 10.4 GH1 GHR
25 empty sella syndrome 10.4 GH1 IGF1
26 hypothyroidism, congenital, nongoitrous, 4 10.4 GH1 IGF1
27 pseudopapilledema 10.3 IGF1 IGF2
28 fasting hypoglycemia 10.3 IGF1 IGF2
29 pituitary tumors 10.3 GH1 IGF1
30 mccune-albright syndrome 10.2 GH1 IGF1
31 osteochondrosis 10.2 IGF1 IGF2
32 slipped capital femoral epiphysis 10.2 IGF1 IGFBP3
33 fibrous dysplasia 10.2 GH1 IGF1
34 hallermann-streiff syndrome 10.2 IGF1 IGF2
35 secondary adrenal insufficiency 10.2 IGF1 IGFBP3
36 pituitary gland disease 10.2 GH1 IGF1
37 rubeosis iridis 10.2 IGF1 IGF2
38 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.2 IGF1 IGFBP3
39 endocrine pancreas disease 10.2 IGF1 IGF2
40 diffuse idiopathic skeletal hyperostosis 10.2 IGF1 IGFBP3
41 central precocious puberty 10.2 IGF1 IGFBP3
42 pancreas disease 10.2 IGF1 IGF2
43 gonadal disease 10.2 GH1 IGF1
44 mammographic density 10.2 IGF1 IGFBP3
45 hyperprolactinemia 10.1 GH1 IGF1
46 marasmus 10.1 GH1 IGFBP3
47 craniopharyngioma 10.1 GH1 IGF1
48 carcinoid syndrome 10.1
49 fanconi anemia, complementation group a 10.0
50 ocular hyperemia 10.0 IGF2 IGFBP3

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



Diseases related to Laron Syndrome

Symptoms & Phenotypes for Laron Syndrome

Symptoms via clinical synopsis from OMIM:

57
Growth:
marked short stature. clinical hyposomatotropism. normal body proportions in childhood. childlike body proportions in adults. greater deviation of stature than head size.

Eyes:
occasionally blue sclerae.

Limbs:
acrohypoplasia. short limbs.

GU:
delayed menarche.

Misc:
distorted sex ratio (19f:2m) in loja province ecuador cases.

Lab:
failure to generate somatomedin (or insulinlike growth factor, igf1) in response to growth hormone (139250). normal or increased levels of gh. growth hormone receptor (ghr) defect. low igf1 despite normal or increased levels of gh.

Endocrine:
target resistance to the action of gh.

Joints:
hip degeneration. limited elbow extensibility.

Voice:
high-pitched voice.

Facies:
small facies.

Radiology:
delayed bone age. markedly advanced osseous maturation for height and age.


Clinical features from OMIM:

262500

Human phenotypes related to Laron Syndrome:

59 32 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
2 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
3 depressed nasal ridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000457
4 blue sclerae 59 32 occasional (7.5%) Occasional (29-5%) HP:0000592
5 delayed eruption of teeth 59 32 frequent (33%) Very frequent (99-80%) HP:0000684
6 microdontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000691
7 delayed puberty 59 32 frequent (33%) Frequent (79-30%) HP:0000823
8 hypohidrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000966
9 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
10 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
11 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
12 high pitched voice 59 32 occasional (7.5%) Occasional (29-5%) HP:0001620
13 short toe 59 32 frequent (33%) Frequent (79-30%) HP:0001831
14 hypoglycemia 59 32 frequent (33%) Frequent (79-30%) HP:0001943
15 truncal obesity 59 32 occasional (7.5%) Very frequent (99-80%) HP:0001956
16 abnormal facial shape 59 32 hallmark (90%) Very frequent (99-80%) HP:0001999
17 delayed skeletal maturation 59 32 frequent (33%) Very frequent (99-80%) HP:0002750
18 osteoarthritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002758
19 hypercholesterolemia 59 32 hallmark (90%) Occasional (29-5%) HP:0003124
20 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
21 hypoplastic nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005281
22 prematurely aged appearance 59 32 occasional (7.5%) Occasional (29-5%) HP:0007495
23 hypoplasia of penis 59 32 frequent (33%) Frequent (79-30%) HP:0008736
24 reduced number of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0009804
25 abnormality of the elbow 59 32 frequent (33%) Frequent (79-30%) HP:0009811
26 underdeveloped supraorbital ridges 59 32 frequent (33%) Frequent (79-30%) HP:0009891
27 aplasia/hypoplasia involving the nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0009924
28 abnormality of the endocrine system 59 Very frequent (99-80%)
29 abnormality of the skull 59 Occasional (29-5%)
30 small face 32 HP:0000274
31 abnormal joint morphology 32 HP:0001367
32 abnormality of metabolism/homeostasis 32 HP:0001939
33 short long bone 32 HP:0003026
34 delayed menarche 32 HP:0012569
35 hypogonadism 32 occasional (7.5%) HP:0000135
36 everted lower lip vermilion 32 hallmark (90%) HP:0000232
37 large fontanelles 32 occasional (7.5%) HP:0000239
38 microcephaly 32 hallmark (90%) HP:0000252
39 hearing impairment 32 occasional (7.5%) HP:0000365
40 insulin resistance 32 hallmark (90%) HP:0000855
41 diabetes insipidus 32 occasional (7.5%) HP:0000873
42 failure to thrive 32 hallmark (90%) HP:0001508
43 abnormality of the nail 32 occasional (7.5%) HP:0001597
44 fine hair 32 frequent (33%) HP:0002213
45 immunodeficiency 32 occasional (7.5%) HP:0002721
46 short stature 32 hallmark (90%) HP:0004322
47 type ii diabetes mellitus 32 frequent (33%) HP:0005978

GenomeRNAi Phenotypes related to Laron Syndrome according to GeneCards Suite gene sharing:

26 (show all 28)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 10.12 GH1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.12 IGF1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.12 IGF1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.12 IGF2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.12 GH1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.12 GH1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.12 IGF2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-135 10.12 GH1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.12 IGF1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.12 GH1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.12 GH1 IGF1 IGF2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-163 10.12 IGF1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.12 IGF1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.12 IGF2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.12 IGF1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-195 10.12 IGF2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.12 IGF1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.12 IGF1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.12 GH1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.12 IGF1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.12 GH1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.12 IGF2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.12 IGF2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.12 IGF2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10.12 IGF2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-96 10.12 GH1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.12 IGF1
28 Reduced mammosphere formation GR00396-S 9.02 IGF1 IGF2 IGFBP3 IL18R1 GHR

MGI Mouse Phenotypes related to Laron Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.65 GHR IGF1 IGF2 IGFBP3 STAT5B
2 adipose tissue MP:0005375 9.62 GHR IGF1 IGFBP3 STAT5B
3 integument MP:0010771 9.55 GHR IGF1 IGF2 IGFBP3 STAT5B
4 limbs/digits/tail MP:0005371 9.26 GHR IGF1 IGF2 IGFBP3
5 renal/urinary system MP:0005367 9.02 IGF1 IGF2 IGFBP3 STAT5B GHR

Drugs & Therapeutics for Laron Syndrome

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones Phase 2, Phase 3,Phase 3
2 insulin Phase 2, Phase 3
3 Insulin, Globin Zinc Phase 2, Phase 3
4 Mitogens Phase 2, Phase 3
5 Hormone Antagonists Phase 2
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
7 Hypoglycemic Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 IGF-I/IGFBP-3 Therapy in Children and Adolescents With Growth Hormone Insenitivity Syndrome (GHIS) Such as Laron Syndrome Completed NCT00368173 Phase 2, Phase 3 rhIGF-I/rhIGFBP-3
2 Long-Term Treatment With rhIGF-1 in GHIS Completed NCT00571727 Phase 2, Phase 3 mecasermin
3 Role of Growth Hormone Antagonism in Modulating Insulin Sensitivity in Subjects With Pre-diabetes Completed NCT02023918 Phase 2 pegvisomant

Search NIH Clinical Center for Laron Syndrome

Cochrane evidence based reviews: laron syndrome

Genetic Tests for Laron Syndrome

Genetic tests related to Laron Syndrome:

# Genetic test Affiliating Genes
1 Laron-Type Isolated Somatotropin Defect 29 GHR

Anatomical Context for Laron Syndrome

MalaCards organs/tissues related to Laron Syndrome:

41
Pituitary, Brain, Bone, Liver, Neutrophil, Heart, Endothelial

Publications for Laron Syndrome

Articles related to Laron Syndrome:

(show top 50) (show all 147)
# Title Authors Year
1
In Reference to Fanconi Anemia and Laron Syndrome. ( 29891046 )
2018
2
Growth hormone receptor-deficient pigs resemble the pathophysiology of human Laron syndrome and reveal altered activation of signaling cascades in the liver. ( 29678421 )
2018
3
Cardiac examination in children with Laron syndrome undergoing mecasermin therapy. ( 29750649 )
2018
4
About a Suggestive Association Between Fanconi Anemia and Laron Syndrome. ( 29891047 )
2018
5
Generation of GHR-modified pigs as Laron syndrome models via a dual-sgRNAs/Cas9 system and somatic cell nuclear transfer. ( 29482569 )
2018
6
Clinical, Endocrine, and Molecular Genetic Analysis of a Large Cohort of Saudi Arabian Patients with Laron Syndrome. ( 28743110 )
2017
7
Fifty years on: New lessons from Laron syndrome. ( 28457105 )
2017
8
Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report. ( 29025428 )
2017
9
Differential expression of IGFBPs in Laron syndrome-derived lymphoblastoid cell lines: Potential correlation with reduced cancer incidence. ( 29208357 )
2017
10
IGF-I deficiency, longevity and cancer protection of patients with Laron syndrome. ( 28528685 )
2017
11
Mexican case report of a never-treated Laron syndrome patient evolving to metabolic syndrome, type 2 diabetes, and stroke. ( 29152285 )
2017
12
Fanconi Anemia and Laron Syndrome. ( 28502327 )
2017
13
Fifty seven years of follow-up of the Israeli cohort of Laron Syndrome patients-From discovery to treatment. ( 26307357 )
2016
14
A half-century of studies of growth hormone insensitivity/Laron syndrome: A historical perspective. ( 26276451 )
2016
15
Identification of signaling pathways associated with cancer protection in Laron syndrome. ( 27090428 )
2016
16
Laron syndrome. ( 27728225 )
2016
17
Clinical and Molecular Features of Laron Syndrome, A Genetic Disorder Protecting from Cancer. ( 27381597 )
2016
18
Epilogue: The future of Laron syndrome - The need for changes. ( 26283274 )
2016
19
Despite higher body fat content, Ecuadorian subjects with Laron syndrome have less insulin resistance and lower incidence of diabetes than their relatives. ( 26259979 )
2016
20
Generation of a miniature pig disease model for human Laron syndrome. ( 26511035 )
2015
21
LESSONS FROM 50 YEARS OF STUDY OF LARON SYNDROME. ( 26401581 )
2015
22
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
23
Laron syndrome. ( 25121377 )
2014
24
Joseph Boruwlaski (1739-1837): a case of Laron syndrome? ( 25459152 )
2014
25
Biphasic response of subscapular skinfold thickness to hGH or IGF-1 administration to patients with congenital IGHD, congenital MPHD and Laron syndrome. ( 24548577 )
2014
26
Clinical features and endocrine profile of Laron syndrome in Indian children. ( 25364685 )
2014
27
A cell therapy-based cure of the Laron Syndrome. ( 23218447 )
2013
28
Diabetes mellitus with Laron syndrome: case report. ( 23729552 )
2013
29
Reversal of experimental Laron Syndrome by xenotransplantation of microencapsulated porcine Sertoli cells. ( 22964394 )
2013
30
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
31
Postprandial hyperglycemia corrected by IGF-I (IncrelexAr) in Laron syndrome. ( 22986916 )
2012
32
Cochlear hearing loss in patients with Laron syndrome. ( 21735352 )
2012
33
The globe and orbit in Laron syndrome. ( 21757529 )
2011
34
Anaesthetic management of a parturient with Laron syndrome. ( 21840205 )
2011
35
Primary growth hormone insensitivity (Laron syndrome) and acquired hypothyroidism: a case report. ( 21745362 )
2011
36
Over-stimulation of insulin/IGF-1 signaling by western diet may promote diseases of civilization: lessons learnt from laron syndrome. ( 21699736 )
2011
37
NREM sleep architecture and relation to GH/IGF-1 axis in Laron syndrome. ( 20389115 )
2010
38
Novel growth hormone receptor gene mutation in a patient with Laron syndrome. ( 20583548 )
2010
39
IGF-I treatment of patients with Laron syndrome suppresses serum thrombopoietin levels but does not affect serum erythropoietin. ( 19021123 )
2009
40
Total and high molecular weight adiponectin are elevated in patients with Laron syndrome despite marked obesity. ( 19755405 )
2009
41
Hand size and growth in untreated and IGF-I treated patients with Laron syndrome. ( 19492579 )
2009
42
The obesity of patients with Laron Syndrome is not associated with excessive nutritional intake. ( 24345535 )
2009
43
IGF-I replacement therapy in children with congenital IGF-I deficiency (Laron syndrome) maintains heart dimension and function. ( 19117781 )
2009
44
The type specimen (LB1) of Homo floresiensis did not have Laron syndrome. ( 19294744 )
2009
45
Nonalcoholic fatty liver in patients with Laron syndrome and GH gene deletion - preliminary report. ( 18462969 )
2008
46
[Novel nonsense mutation (p.Y113X) in the human growth hormone receptor gene in a Brazilian patient with Laron syndrome]. ( 19169479 )
2008
47
A novel growth hormone receptor gene deletion mutation in a patient with primary growth hormone insensitivity syndrome (Laron syndrome). ( 17728167 )
2008
48
Abnormalities of the axial and proximal appendicular skeleton in adults with Laron syndrome (growth hormone insensitivity). ( 17992526 )
2008
49
Insulin-like growth factor-I treatment of children with Laron syndrome (primary growth hormone insensitivity). ( 18367997 )
2008
50
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

Variations for Laron Syndrome

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

75 (show all 17)
# Symbol AA change Variation ID SNP ID
1 GHR p.Arg89Lys VAR_002709
2 GHR p.Phe114Ser VAR_002710 rs121909357
3 GHR p.Val143Ala VAR_002711
4 GHR p.Val162Asp VAR_002712
5 GHR p.Asp170His VAR_002713 rs121909366
6 GHR p.Arg179Cys VAR_002714 rs121909362
7 GHR p.Arg229Gly VAR_002715
8 GHR p.Cys56Ser VAR_018426
9 GHR p.Ser58Leu VAR_018427
10 GHR p.Trp68Arg VAR_018428
11 GHR p.Pro149Gln VAR_018429 rs121909365
12 GHR p.Ile171Thr VAR_018431 rs121909367
13 GHR p.Gln172Pro VAR_018432 rs121909368
14 GHR p.Val173Gly VAR_018433 rs121909369
15 GHR p.Tyr226Cys VAR_018434
16 GHR p.Ser244Ile VAR_018435
17 GHR p.Asp262Asn VAR_018436

ClinVar genetic disease variations for Laron Syndrome:

6
(show top 50) (show all 147)
# Gene Variation Type Significance SNP ID Assembly Location
1 GHR GHR, EX4,6DEL deletion Pathogenic
2 GHR NM_000163.4(GHR): c.341T> C (p.Phe114Ser) single nucleotide variant Pathogenic rs121909357 GRCh37 Chromosome 5, 42695093: 42695093
3 GHR NM_000163.4(GHR): c.341T> C (p.Phe114Ser) single nucleotide variant Pathogenic rs121909357 GRCh38 Chromosome 5, 42694991: 42694991
4 GHR NM_000163.4(GHR): c.181C> T (p.Arg61Ter) single nucleotide variant Pathogenic rs121909358 GRCh37 Chromosome 5, 42689036: 42689036
5 GHR NM_000163.4(GHR): c.181C> T (p.Arg61Ter) single nucleotide variant Pathogenic rs121909358 GRCh38 Chromosome 5, 42688934: 42688934
6 GHR NM_000163.4(GHR): c.168C> A (p.Cys56Ter) single nucleotide variant Pathogenic rs121909359 GRCh37 Chromosome 5, 42689023: 42689023
7 GHR NM_000163.4(GHR): c.168C> A (p.Cys56Ter) single nucleotide variant Pathogenic rs121909359 GRCh38 Chromosome 5, 42688921: 42688921
8 GHR NM_000163.4(GHR): c.594A> G (p.Glu198=) single nucleotide variant Pathogenic rs121909360 GRCh37 Chromosome 5, 42700080: 42700080
9 GHR NM_000163.4(GHR): c.594A> G (p.Glu198=) single nucleotide variant Pathogenic rs121909360 GRCh38 Chromosome 5, 42699978: 42699978
10 GHR NM_000163.4(GHR): c.703C> T (p.Arg235Ter) single nucleotide variant Pathogenic rs121909363 GRCh37 Chromosome 5, 42711393: 42711393
11 GHR NM_000163.4(GHR): c.703C> T (p.Arg235Ter) single nucleotide variant Pathogenic rs121909363 GRCh38 Chromosome 5, 42711291: 42711291
12 GHR GHR, IVS4DS, G-A, +1 single nucleotide variant Pathogenic
13 GHR GHR, 2-BP DEL, FS51TER deletion Pathogenic
14 GHR NM_000163.4(GHR): c.619-1G> T single nucleotide variant Pathogenic rs730880281 GRCh38 Chromosome 5, 42711206: 42711206
15 GHR NM_000163.4(GHR): c.619-1G> T single nucleotide variant Pathogenic rs730880281 GRCh37 Chromosome 5, 42711308: 42711308
16 GHR GHR, 2-BP DEL, FS234TER deletion Pathogenic
17 GHR NM_000163.4(GHR): c.515A> C (p.Gln172Pro) single nucleotide variant Pathogenic rs121909368 GRCh37 Chromosome 5, 42700001: 42700001
18 GHR NM_000163.4(GHR): c.515A> C (p.Gln172Pro) single nucleotide variant Pathogenic rs121909368 GRCh38 Chromosome 5, 42699899: 42699899
19 GHR NM_000163.4(GHR): c.518T> G (p.Val173Gly) single nucleotide variant Pathogenic rs121909369 GRCh37 Chromosome 5, 42700004: 42700004
20 GHR NM_000163.4(GHR): c.518T> G (p.Val173Gly) single nucleotide variant Pathogenic rs121909369 GRCh38 Chromosome 5, 42699902: 42699902
21 GHR NM_000163.4(GHR): c.508G> C (p.Asp170His) single nucleotide variant Pathogenic rs121909366 GRCh37 Chromosome 5, 42699994: 42699994
22 GHR NM_000163.4(GHR): c.508G> C (p.Asp170His) single nucleotide variant Pathogenic rs121909366 GRCh38 Chromosome 5, 42699892: 42699892
23 GHR NM_000163.4(GHR): c.512T> C (p.Ile171Thr) single nucleotide variant Pathogenic rs121909367 GRCh37 Chromosome 5, 42699998: 42699998
24 GHR NM_000163.4(GHR): c.512T> C (p.Ile171Thr) single nucleotide variant Pathogenic rs121909367 GRCh38 Chromosome 5, 42699896: 42699896
25 GHR GHR, PSEUDOEXON(-1)A-G single nucleotide variant Pathogenic
26 GHR GHR, 22-BP DEL deletion Pathogenic
27 GHR NM_000163.4(GHR): c.102G> A (p.Trp34Ter) single nucleotide variant Pathogenic rs121909370 GRCh37 Chromosome 5, 42629171: 42629171
28 GHR NM_000163.4(GHR): c.102G> A (p.Trp34Ter) single nucleotide variant Pathogenic rs121909370 GRCh38 Chromosome 5, 42629069: 42629069
29 GHR NM_000163.4(GHR): c.303C> A (p.Cys101Ter) single nucleotide variant Pathogenic rs121909371 GRCh37 Chromosome 5, 42695055: 42695055
30 GHR NM_000163.4(GHR): c.303C> A (p.Cys101Ter) single nucleotide variant Pathogenic rs121909371 GRCh38 Chromosome 5, 42694953: 42694953
31 GHR GHR, 1-BP DEL, 1776G deletion Pathogenic
32 GHR NM_000163.4(GHR): c.335G> C (p.Cys112Ser) single nucleotide variant Pathogenic rs121909372 GRCh37 Chromosome 5, 42695087: 42695087
33 GHR NM_000163.4(GHR): c.335G> C (p.Cys112Ser) single nucleotide variant Pathogenic rs121909372 GRCh38 Chromosome 5, 42694985: 42694985
34 GHR NM_000163.4(GHR): c.504T> G (p.His168Gln) single nucleotide variant Pathogenic rs121909373 GRCh37 Chromosome 5, 42699990: 42699990
35 GHR NM_000163.4(GHR): c.504T> G (p.His168Gln) single nucleotide variant Pathogenic rs121909373 GRCh38 Chromosome 5, 42699888: 42699888
36 GHR NM_000163.4(GHR): c.558A> G (p.Gly186=) single nucleotide variant Benign rs6179 GRCh37 Chromosome 5, 42700044: 42700044
37 GHR NM_000163.4(GHR): c.558A> G (p.Gly186=) single nucleotide variant Benign rs6179 GRCh38 Chromosome 5, 42699942: 42699942
38 GHR NM_000163.4(GHR): c.718T> C (p.Tyr240His) single nucleotide variant Conflicting interpretations of pathogenicity rs143814221 GRCh37 Chromosome 5, 42711408: 42711408
39 GHR NM_000163.4(GHR): c.718T> C (p.Tyr240His) single nucleotide variant Conflicting interpretations of pathogenicity rs143814221 GRCh38 Chromosome 5, 42711306: 42711306
40 GHR NM_000163.4(GHR): c.785-9G> A single nucleotide variant Likely benign rs34190075 GRCh38 Chromosome 5, 42713420: 42713420
41 GHR NM_000163.4(GHR): c.785-9G> A single nucleotide variant Likely benign rs34190075 GRCh37 Chromosome 5, 42713522: 42713522
42 GHR NM_000163.4(GHR): c.1098A> G (p.Leu366=) single nucleotide variant Likely benign rs116466139 GRCh37 Chromosome 5, 42718707: 42718707
43 GHR NM_000163.4(GHR): c.1098A> G (p.Leu366=) single nucleotide variant Likely benign rs116466139 GRCh38 Chromosome 5, 42718605: 42718605
44 GHR NM_000163.4(GHR): c.1473C> T (p.Ser491=) single nucleotide variant Likely benign rs6176 GRCh38 Chromosome 5, 42718980: 42718980
45 GHR NM_000163.4(GHR): c.1473C> T (p.Ser491=) single nucleotide variant Likely benign rs6176 GRCh37 Chromosome 5, 42719082: 42719082
46 GHR NM_000163.4(GHR): c.1319G> T (p.Cys440Phe) single nucleotide variant Benign/Likely benign rs6182 GRCh37 Chromosome 5, 42718928: 42718928
47 GHR NM_000163.4(GHR): c.1319G> T (p.Cys440Phe) single nucleotide variant Benign/Likely benign rs6182 GRCh38 Chromosome 5, 42718826: 42718826
48 GHR NM_000163.4(GHR): c.1735C> A (p.Pro579Thr) single nucleotide variant Benign/Likely benign rs6184 GRCh37 Chromosome 5, 42719344: 42719344
49 GHR NM_000163.4(GHR): c.1735C> A (p.Pro579Thr) single nucleotide variant Benign/Likely benign rs6184 GRCh38 Chromosome 5, 42719242: 42719242
50 GHR NM_000163.4(GHR): c.-164A> G single nucleotide variant Benign rs2940928 GRCh37 Chromosome 5, 42423905: 42423905

Expression for Laron Syndrome

Search GEO for disease gene expression data for Laron Syndrome.

Pathways for Laron Syndrome

Pathways related to Laron Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Neuroactive ligand-receptor interaction hsa04080
2 Cytokine-cytokine receptor interaction hsa04060
3 Jak-STAT signaling pathway hsa04630
4 PI3K-Akt signaling pathway hsa04151

Pathways related to Laron Syndrome according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.04 GH1 GHR IGF1 IGF2 IL18R1 STAT5B
2
Show member pathways
13.02 GH1 IGF1 IGF2 IL18R1 STAT5B
3
Show member pathways
12.99 GH1 GHR IL18R1 STAT5B
4
Show member pathways
12.93 GH1 IGF1 IGF2 IL18R1
5
Show member pathways
12.62 GH1 GHR IGF1 IGF2
6
Show member pathways
12.53 GH1 GHR IGF1 IGFBP3
7
Show member pathways
12.37 GH1 IGF1 IGF2
8
Show member pathways
12.31 GH1 GHR STAT5B
9
Show member pathways
12.25 GH1 GHR IGF1 IGF2 STAT5B
10 11.73 GH1 IGF1 STAT5B
11
Show member pathways
11.68 IGF1 IGF2 IGFBP3
12
Show member pathways
11.68 GH1 IGF1 IGF2 IL18R1
13 11.34 IGF1 IGF2
14 11.27 IGF1 IGF2
15
Show member pathways
11.05 GH1 GHR STAT5B
16
Show member pathways
10.99 IL18R1 STAT5B
17
Show member pathways
10.93 IGF1 IGF2
18 10.83 GH1 GHR IGF1 IGF2 STAT5B
19 10.45 IGF1 IGF2 IGFBP3

GO Terms for Laron Syndrome

Cellular components related to Laron Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.72 GH1 GHR IGF1 IGF2 IGFBP3
2 extracellular space GO:0005615 9.65 GH1 GHR IGF1 IGF2 IGFBP3
3 platelet alpha granule lumen GO:0031093 9.37 IGF1 IGF2
4 insulin-like growth factor ternary complex GO:0042567 9.16 IGF1 IGFBP3
5 insulin-like growth factor binding protein complex GO:0016942 8.96 IGF1 IGFBP3
6 growth hormone receptor complex GO:0070195 8.62 GH1 GHR

Biological processes related to Laron Syndrome according to GeneCards Suite gene sharing:

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.83 GH1 IGF1 IGF2
2 cellular protein metabolic process GO:0044267 9.81 IGF1 IGF2 IGFBP3
3 positive regulation of MAPK cascade GO:0043410 9.78 IGF1 IGF2 IGFBP3
4 activation of MAPK activity GO:0000187 9.75 GHR IGF1 IGF2
5 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.69 GH1 IGF1 IGF2
6 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.67 GH1 GHR IGF1
7 response to glucose GO:0009749 9.66 IGF1 IGF2
8 response to insulin GO:0032868 9.65 IGF1 IGF2
9 cellular response to hormone stimulus GO:0032870 9.65 GHR STAT5B
10 JAK-STAT cascade GO:0007259 9.64 GHR STAT5B
11 positive regulation of mitotic nuclear division GO:0045840 9.63 IGF1 IGF2
12 positive regulation of JAK-STAT cascade GO:0046427 9.63 GH1 GHR
13 2-oxoglutarate metabolic process GO:0006103 9.62 GHR STAT5B
14 positive regulation of insulin receptor signaling pathway GO:0046628 9.62 IGF1 IGF2
15 positive regulation of glycogen biosynthetic process GO:0045725 9.61 IGF1 IGF2
16 response to nutrient levels GO:0031667 9.61 GH1 IGF1 IGF2
17 insulin-like growth factor receptor signaling pathway GO:0048009 9.6 GHR IGF1
18 oxaloacetate metabolic process GO:0006107 9.59 GHR STAT5B
19 creatine metabolic process GO:0006600 9.58 GHR STAT5B
20 growth hormone receptor signaling pathway GO:0060396 9.57 GH1 GHR
21 succinate metabolic process GO:0006105 9.56 GHR STAT5B
22 citrate metabolic process GO:0006101 9.55 GHR STAT5B
23 valine metabolic process GO:0006573 9.54 GHR STAT5B
24 regulation of multicellular organism growth GO:0040014 9.54 GHR IGF1 STAT5B
25 taurine metabolic process GO:0019530 9.52 GHR STAT5B
26 positive regulation of activated T cell proliferation GO:0042104 9.5 IGF1 IGF2 STAT5B
27 creatinine metabolic process GO:0046449 9.48 GHR STAT5B
28 isoleucine metabolic process GO:0006549 9.46 GHR STAT5B
29 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.46 GH1 GHR IGF1 IGF2
30 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.43 GH1 GHR STAT5B
31 allantoin metabolic process GO:0000255 9.4 GHR STAT5B
32 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.13 GH1 IGF1 IGFBP3
33 positive regulation of multicellular organism growth GO:0040018 8.92 GH1 GHR IGF2 STAT5B

Molecular functions related to Laron Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.43 GH1 IGF1 IGF2
2 insulin receptor binding GO:0005158 9.32 IGF1 IGF2
3 insulin-like growth factor receptor binding GO:0005159 9.16 IGF1 IGF2
4 hormone activity GO:0005179 9.13 GH1 IGF1 IGF2
5 receptor activator activity GO:0030546 8.62 IGF1 IGF2

Sources for Laron Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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