LARS
MCID: LRN004
MIFTS: 58

Laron Dwarfism (LARS) malady

Categories: Genetic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Laron Dwarfism

Aliases & Descriptions for Laron Dwarfism:

Name: Laron Dwarfism 54 50 25 66 13
Laron Syndrome 54 12 50 24 25 56 66 52 42 14 69
Growth Hormone Receptor Deficiency 50 25 56 66
Pituitary Dwarfism Ii 50 24 25 66
Laron-Type Isolated Somatotropin Defect 12 25 29
Growth Hormone Insensitivity Syndrome 50 25 66
Primary Growth Hormone Resistance 50 25 56
Primary Growth Hormone Insensitivity 50 56
Laron Type Pituitary Dwarfism I 50 66
Primary Gh Resistance 25 56
Laron-Type Dwarfism 25 56
Short Stature Due to Growth Hormone Resistance 56
Complete Growth Hormone Insensitivity 56
Growth Hormone Receptor Defect 25
Laron-Type Pituitary Dwarfism 25
Laron-Type Short Stature 25
Primary Gh Insensitivity 56
Severe Gh Insensitivity 25
Gh Receptor Deficiency 56
Gh-R Deficiency 25
Lars 66

Characteristics:

Orphanet epidemiological data:

56
laron syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

32
laron dwarfism:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare endocrine diseases


External Ids:

OMIM 54 262500
Disease Ontology 12 DOID:9521
ICD10 33 E34.3
MeSH 42 D046150
SNOMED-CT 64 38196001
Orphanet 56 ORPHA633
MESH via Orphanet 43 D046150
UMLS via Orphanet 70 C0271568
ICD10 via Orphanet 34 E34.3
MedGen 40 C0271568
UMLS 69 C0271568

Summaries for Laron Dwarfism

OMIM : 54 Laron syndrome is an autosomal recessive disorder characterized by marked short stature that results from failure to... (262500) more...

MalaCards based summary : Laron Dwarfism, also known as laron syndrome, is related to pyuria and infantile liver failure syndrome 1, and has symptoms including osteoarthritis, intellectual disability and delayed skeletal maturation. An important gene associated with Laron Dwarfism is GHR (Growth Hormone Receptor), and among its related pathways/superpathways are TGF-Beta Pathway and Akt Signaling. The drugs insulin and Mitogens have been mentioned in the context of this disorder. Affiliated tissues include pituitary, brain and bone, and related phenotypes are Increased shRNA abundance (Z-score > 2) and endocrine/exocrine gland

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 : 50 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). last updated: 9/30/2015

UniProtKB/Swiss-Prot : 66 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 : 71 Laron\'s syndrome, or Laron-type dwarfism, is an autosomal recessive disorder characterized by an... more...

Related Diseases for Laron Dwarfism

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

(show top 50) (show all 95)
id Related Disease Score Top Affiliating Genes
1 pyuria 11.2
2 infantile liver failure syndrome 1 11.2
3 growth hormone insensitivity with immunodeficiency 11.1
4 growth hormone insensitivity, partial 11.1
5 vaginal discharge 10.9
6 chronic salpingitis 10.9
7 osmotic diarrhea 10.9
8 desbuquois dysplasia 10.9
9 conjugate gaze palsy 10.9
10 hiatus hernia 10.9
11 patellofemoral pain syndrome 10.9
12 michelin tire baby syndrome 10.9
13 desbuquois dysplasia 1 10.8
14 mental retardation, x-linked, snyder-robinson type 10.8
15 retinitis pigmentosa 66 10.8
16 dwarfism 10.5
17 acromegaly 10.4
18 deafness, autosomal dominant 25 10.2 GHR IGF1
19 short stature with nonspecific skeletal abnormalities 10.2 GHR IGF1
20 sohval soffer syndrome 10.1 IGF1 IGFBP3
21 seow najjar syndrome 10.1 IGF1 IGFBP3
22 capgras syndrome 10.1 IGF1 IGFBP3
23 diarrhea 3, secretory sodium, congenital, syndromic 10.1 IGF1 IGFBP3
24 lacrimal duct obstruction 10.1 IGF1 IGF2
25 pituitary adenoma, acth-secreting 10.1 IGF1 IGFBP3
26 femur bifid with monodactylous ectrodactyly 10.1 IGF1 IGF2
27 hyperinsulinemic hypoglycemia, familial, 5 10.1 IGF1 IGFBP3
28 deafness, autosomal recessive 74 10.1 IGF1 IGF2
29 coronary aneurysm 10.1 GHR IGFBP3
30 pemphigus vegetans 10.1 GH1 GHR
31 ovarian insufficiency, familial 10.1 IGF1 IGF2
32 phacolytic glaucoma 10.1 IGF1 IGFBP3
33 critical congenital heart disease 10.1 GH1 IGF1
34 bell's palsy 10.1 IGF2 IGFBP3
35 brucella canis brucellosis 10.1 IGF1 IGF2
36 mental retardation, autosomal recessive 35 10.1 IGF1 IGFBP3
37 pulmonary neuroendocrine tumor 10.1 GH1 GHR
38 haverhill fever 10.1 IGF1 IGF2
39 caudal regression syndrome 10.1 GH1 IGF1
40 harrod syndrome 10.1 IGF1 IGF2
41 osseous heteroplasia, progressive 10.1 GH1 IGF1
42 congenital articular rigidity 10.1 IGF2 IGFBP3
43 primary effusion lymphoma 10.1 GH1 IGF1
44 neurogenic arthropathy 10.1 IGF1 IGF2
45 male genital organ stricture 10.1 GH1 IGFBP3
46 post-traumatic stress disorder 10.1 IGF1 IGFBP3
47 rheumatic encephalitis 10.1 GH1 IGF1
48 ehlers-danlos syndrome, cardiac valvular form 10.0 IGF1 IGFBP3
49 axial osteomalacia 10.0 GH1 IGF1
50 urethra clear cell adenocarcinoma 10.0 GH1 IGF1

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



Diseases related to Laron Dwarfism

Symptoms & Phenotypes for Laron Dwarfism

Symptoms by clinical synopsis from OMIM:

262500

Clinical features from OMIM:

262500

Human phenotypes related to Laron Dwarfism:

56 32 (show all 47)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 56 32 Occasional (29-5%) HP:0002758
2 intellectual disability 56 32 Occasional (29-5%) HP:0001249
3 delayed skeletal maturation 56 32 Very frequent (99-80%) HP:0002750
4 abnormal facial shape 56 32 Very frequent (99-80%) HP:0001999
5 delayed puberty 56 32 Frequent (79-30%) HP:0000823
6 hypoglycemia 56 32 Frequent (79-30%) HP:0001943
7 micrognathia 56 32 Very frequent (99-80%) HP:0000347
8 delayed eruption of teeth 56 32 Very frequent (99-80%) HP:0000684
9 microdontia 56 32 Very frequent (99-80%) HP:0000691
10 hypohidrosis 56 32 Occasional (29-5%) HP:0000966
11 short toe 56 32 Frequent (79-30%) HP:0001831
12 depressed nasal ridge 56 32 Occasional (29-5%) HP:0000457
13 prematurely aged appearance 56 32 Occasional (29-5%) HP:0007495
14 brachydactyly syndrome 56 32 Frequent (79-30%) HP:0001156
15 hypercholesterolemia 56 32 Occasional (29-5%) HP:0003124
16 reduced number of teeth 56 32 Very frequent (99-80%) HP:0009804
17 hypoplasia of penis 56 32 Frequent (79-30%) HP:0008736
18 severe short stature 56 32 Very frequent (99-80%) HP:0003510
19 high forehead 56 32 Very frequent (99-80%) HP:0000348
20 abnormality of the elbow 56 32 Frequent (79-30%) HP:0009811
21 high pitched voice 56 32 Occasional (29-5%) HP:0001620
22 blue sclerae 56 32 Occasional (29-5%) HP:0000592
23 motor delay 56 32 Frequent (79-30%) HP:0001270
24 truncal obesity 56 32 Very frequent (99-80%) HP:0001956
25 aplasia/hypoplasia involving the nose 56 32 Very frequent (99-80%) HP:0009924
26 underdeveloped supraorbital ridges 56 32 Frequent (79-30%) HP:0009891
27 hypoplastic nasal bridge 56 32 Very frequent (99-80%) HP:0005281
28 failure to thrive 32 HP:0001508
29 hearing impairment 32 HP:0000365
30 type ii diabetes mellitus 32 HP:0005978
31 microcephaly 32 HP:0000252
32 short stature 32 HP:0004322
33 abnormality of the nail 32 HP:0001597
34 abnormality of metabolism/homeostasis 32 HP:0001939
35 immunodeficiency 32 HP:0002721
36 short long bone 32 HP:0003026
37 everted lower lip vermilion 32 HP:0000232
38 abnormality of the skull 56 Occasional (29-5%)
39 hypogonadism 32 HP:0000135
40 abnormality of the endocrine system 56 Very frequent (99-80%)
41 diabetes insipidus 32 HP:0000873
42 fine hair 32 HP:0002213
43 large fontanelles 32 HP:0000239
44 insulin resistance 32 HP:0000855
45 small face 32 HP:0000274
46 abnormal joint morphology 32 HP:0001367
47 delayed menarche 32 HP:0012569

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.77 GH1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.77 IGF1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.77 IGF1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.77 IGF2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.77 GH1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.77 GH1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.77 IGF2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.77 GH1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.77 IGF1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.77 GH1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.77 GH1 IGF1 IGF2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.77 IGF1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.77 IGF1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.77 IGF2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.77 IGF1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.77 IGF1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.77 IGF1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.77 GH1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.77 IGF1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.77 GH1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.77 IGF2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.77 IGF2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.77 IGF2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.77 IGF2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.77 GH1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.77 IGF1

MGI Mouse Phenotypes related to Laron Dwarfism:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.72 GHR IGF1 IGF2 IGFBP3 STAT5B
2 adipose tissue MP:0005375 9.67 IGF1 IGFBP3 STAT5B GHR
3 integument MP:0010771 9.65 GHR IGF1 IGF2 IGFBP3 STAT5B
4 liver/biliary system MP:0005370 9.46 GHR IGF2 IGFBP3 STAT5B
5 muscle MP:0005369 9.26 GHR IGF1 IGF2 IGFBP3
6 renal/urinary system MP:0005367 8.92 GHR IGF1 IGF2 STAT5B

Drugs & Therapeutics for Laron Dwarfism

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

(show all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 insulin Phase 2, Phase 3
2 Mitogens Phase 2, Phase 3
3 Hormones Phase 2, Phase 3
4 Insulin, Globin Zinc 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:


id Name Status NCT ID Phase
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
2 Long-Term Treatment With rhIGF-1 in GHIS Completed NCT00571727 Phase 2, Phase 3
3 Role of Growth Hormone Antagonism in Modulating Insulin Sensitivity in Subjects With Pre-diabetes Completed NCT02023918 Phase 2

Search NIH Clinical Center for Laron Dwarfism

Cochrane evidence based reviews: laron syndrome

Genetic Tests for Laron Dwarfism

Genetic tests related to Laron Dwarfism:

id Genetic test Affiliating Genes
1 Laron-Type Isolated Somatotropin Defect 29
2 Pituitary Dwarfism Ii 24 GHR

Anatomical Context for Laron Dwarfism

MalaCards organs/tissues related to Laron Dwarfism:

39
Pituitary, Brain, Bone, Thyroid

Publications for Laron Dwarfism

Articles related to Laron Dwarfism:

(show all 21)
id Title Authors Year
1
Growth hormone insensitivity syndrome (Laron dwarfism). ( 9554471 )
1998
2
Laron dwarfism and non-insulin-dependent diabetes mellitus in the Hnf-1alpha knockout mouse. ( 9566924 )
1998
3
Radiographic abnormalities in Laron dwarfism. ( 7800446 )
1994
4
Lack of hormone binding in COS-7 cells expressing a mutated growth hormone receptor found in Laron dwarfism. ( 8450064 )
1993
5
Laron dwarfism in the Arabian Gulf: a report of a sibship. ( 7505559 )
1993
6
Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism. ( 1999489 )
1991
7
Molecular basis of Laron dwarfism. ( 18411163 )
1991
8
Effects of the infusion of insulin-like growth factor I in a child with growth hormone insensitivity syndrome (Laron dwarfism). ( 2023608 )
1991
9
Laron dwarfism. ( 1670793 )
1991
10
Correction and withdrawal of conclusion--a child with phenotypic Laron dwarfism and normal somatomedin levels. ( 2288600 )
1990
11
Growth hormone-receptor gene in Laron dwarfism. ( 2308623 )
1990
12
The molecular biology of Laron dwarfism and medullary thyroid cancer. ( 2571085 )
1989
13
A child with phenotypic Laron dwarfism and normal somatomedin levels. ( 2913494 )
1989
14
A child with phenotypic Laron dwarfism and normal somatomedin levels. ( 2725626 )
1989
15
Laron dwarfism and mutations of the growth hormone-receptor gene. ( 2779634 )
1989
16
Laron dwarfism: cellular unresponsiveness to GH demonstrated on cultured lymphocytes by a cytochemical method. ( 3169682 )
1988
17
Absence of serum growth hormone binding protein in patients with growth hormone receptor deficiency (Laron dwarfism). ( 3474620 )
1987
18
Pathogenesis of Laron dwarfism. ( 7453788 )
1981
19
Peripheral unresponsiveness to human growth hormone in Laron dwarfism. ( 6106895 )
1980
20
Laron dwarfism: growth and immunoreactive insulin following treatment with human growth hormone. ( 1107504 )
1976
21
Fractionation studies on plasma of normals and patients with Laron dwarfism and hypopituitary gigantism. ( 4762432 )
1973

Variations for Laron Dwarfism

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

66 (show all 18)
id 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.Cys440Phe VAR_013939 rs6182
9 GHR p.Cys56Ser VAR_018426
10 GHR p.Ser58Leu VAR_018427
11 GHR p.Trp68Arg VAR_018428
12 GHR p.Pro149Gln VAR_018429 rs121909365
13 GHR p.Ile171Thr VAR_018431 rs121909367
14 GHR p.Gln172Pro VAR_018432 rs121909368
15 GHR p.Val173Gly VAR_018433 rs121909369
16 GHR p.Tyr226Cys VAR_018434
17 GHR p.Ser244Ile VAR_018435
18 GHR p.Asp262Asn VAR_018436

ClinVar genetic disease variations for Laron Dwarfism:

6 (show all 23)
id 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.181C> T (p.Arg61Ter) single nucleotide variant Pathogenic rs121909358 GRCh37 Chromosome 5, 42689036: 42689036
4 GHR NM_000163.4(GHR): c.168C> A (p.Cys56Ter) single nucleotide variant Pathogenic rs121909359 GRCh37 Chromosome 5, 42689023: 42689023
5 GHR NM_000163.4(GHR): c.594A> G (p.Glu198=) single nucleotide variant Pathogenic rs121909360 GRCh37 Chromosome 5, 42700080: 42700080
6 GHR NM_000163.4(GHR): c.703C> T (p.Arg235Ter) single nucleotide variant Pathogenic rs121909363 GRCh37 Chromosome 5, 42711393: 42711393
7 GHR GHR, IVS4DS, G-A, +1 single nucleotide variant Pathogenic
8 GHR GHR, 2-BP DEL, FS51TER deletion Pathogenic
9 GHR NM_000163.4(GHR): c.619-1G> T single nucleotide variant Pathogenic rs730880281 GRCh38 Chromosome 5, 42711206: 42711206
10 GHR GHR, 2-BP DEL, FS234TER deletion Pathogenic
11 GHR NM_000163.4(GHR): c.515A> C (p.Gln172Pro) single nucleotide variant Pathogenic rs121909368 GRCh37 Chromosome 5, 42700001: 42700001
12 GHR NM_000163.4(GHR): c.518T> G (p.Val173Gly) single nucleotide variant Pathogenic rs121909369 GRCh37 Chromosome 5, 42700004: 42700004
13 GHR NM_000163.4(GHR): c.508G> C (p.Asp170His) single nucleotide variant Pathogenic rs121909366 GRCh37 Chromosome 5, 42699994: 42699994
14 GHR NM_000163.4(GHR): c.512T> C (p.Ile171Thr) single nucleotide variant Pathogenic rs121909367 GRCh37 Chromosome 5, 42699998: 42699998
15 GHR GHR, PSEUDOEXON(-1)A-G single nucleotide variant Pathogenic
16 GHR GHR, 22-BP DEL deletion Pathogenic
17 GHR NM_000163.4(GHR): c.102G> A (p.Trp34Ter) single nucleotide variant Pathogenic rs121909370 GRCh37 Chromosome 5, 42629171: 42629171
18 GHR NM_000163.4(GHR): c.1630A> C (p.Ile544Leu) single nucleotide variant risk factor rs6180 GRCh37 Chromosome 5, 42719239: 42719239
19 GHR NM_000163.4(GHR): c.303C> A (p.Cys101Ter) single nucleotide variant Pathogenic rs121909371 GRCh37 Chromosome 5, 42695055: 42695055
20 GHR GHR, 1-BP DEL, 1776G deletion Pathogenic
21 GHR NM_000163.4(GHR): c.335G> C (p.Cys112Ser) single nucleotide variant Pathogenic rs121909372 GRCh37 Chromosome 5, 42695087: 42695087
22 GHR NM_000163.4(GHR): c.504T> G (p.His168Gln) single nucleotide variant Pathogenic rs121909373 GRCh37 Chromosome 5, 42699990: 42699990
23 GHR NM_000163.4(GHR): c.281G> A (p.Trp94Ter) single nucleotide variant Likely pathogenic rs1060499692 GRCh37 Chromosome 5, 42695033: 42695033

Expression for Laron Dwarfism

Search GEO for disease gene expression data for Laron Dwarfism.

Pathways for Laron Dwarfism

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

(show all 16)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.09 GH1 GHR IGF1 IGF2 STAT5B
2
Show member pathways
13 GH1 IGF1 IGF2 STAT5B
3
Show member pathways
12.71 GH1 GHR IGF1 IGF2 STAT5B
4
Show member pathways
12.48 GH1 GHR IGF1 IGFBP3
5
Show member pathways
12.34 GH1 IGF1 IGF2
6 12.22 GH1 GHR IGF1
7
Show member pathways
11.94 IGF1 IGF2 IGFBP3 STAT5B
8
Show member pathways
11.85 GH1 GHR STAT5B
9 11.66 GH1 IGF1 STAT5B
10 11.36 GH1 IGF1 IGF2
11 11.32 IGF1 IGF2
12 11.25 IGF1 IGF2
13
Show member pathways
10.94 GH1 GHR STAT5B
14
Show member pathways
10.89 IGF1 IGF2
15 10.83 GH1 GHR IGF1 IGF2 STAT5B
16 10.45 IGF1 IGF2 IGFBP3

GO Terms for Laron Dwarfism

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

id 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 Dwarfism according to GeneCards Suite gene sharing:

(show all 30)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.82 IGF1 IGF2 STAT5B
2 cellular protein metabolic process GO:0044267 9.8 IGF1 IGF2 IGFBP3
3 positive regulation of MAPK cascade GO:0043410 9.72 IGF1 IGF2 IGFBP3
4 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.64 GH1 IGF1
5 cellular response to hormone stimulus GO:0032870 9.64 GHR STAT5B
6 positive regulation of tyrosine phosphorylation of Stat3 protein GO:0042517 9.63 GH1 GHR
7 positive regulation of mitotic nuclear division GO:0045840 9.63 IGF1 IGF2
8 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.63 GH1 GHR IGF1
9 positive regulation of JAK-STAT cascade GO:0046427 9.62 GH1 GHR
10 2-oxoglutarate metabolic process GO:0006103 9.61 GHR STAT5B
11 positive regulation of glycogen biosynthetic process GO:0045725 9.61 IGF1 IGF2
12 positive regulation of multicellular organism growth GO:0040018 9.61 GH1 GHR STAT5B
13 insulin-like growth factor receptor signaling pathway GO:0048009 9.6 GHR IGF1
14 oxaloacetate metabolic process GO:0006107 9.59 GHR STAT5B
15 creatine metabolic process GO:0006600 9.58 GHR STAT5B
16 succinate metabolic process GO:0006105 9.58 GHR STAT5B
17 JAK-STAT cascade GO:0007259 9.58 GH1 GHR STAT5B
18 growth hormone receptor signaling pathway GO:0060396 9.57 GH1 GHR
19 citrate metabolic process GO:0006101 9.56 GHR STAT5B
20 valine metabolic process GO:0006573 9.54 GHR STAT5B
21 positive regulation of activated T cell proliferation GO:0042104 9.54 IGF1 IGF2 STAT5B
22 taurine metabolic process GO:0019530 9.52 GHR STAT5B
23 creatinine metabolic process GO:0046449 9.51 GHR STAT5B
24 regulation of multicellular organism growth GO:0040014 9.5 GHR IGF1 STAT5B
25 isoleucine metabolic process GO:0006549 9.49 GHR STAT5B
26 allantoin metabolic process GO:0000255 9.48 GHR STAT5B
27 positive regulation of tyrosine phosphorylation of Stat5 protein GO:0042523 9.43 GH1 GHR IGF1
28 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.33 GH1 GHR STAT5B
29 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.13 GH1 IGF1 IGFBP3
30 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 8.92 GH1 GHR IGF1 IGF2

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

id Name GO ID Score Top Affiliating Genes
1 protein phosphatase binding GO:0019903 9.32 GHR STAT5B
2 insulin receptor binding GO:0005158 9.26 IGF1 IGF2
3 insulin-like growth factor receptor binding GO:0005159 9.16 IGF1 IGF2
4 growth factor activity GO:0008083 9.13 GH1 IGF1 IGF2
5 hormone activity GO:0005179 8.8 GH1 IGF1 IGF2

Sources for Laron Dwarfism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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