MCID: LRN004
MIFTS: 59

Laron Dwarfism

Categories: Genetic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Laron Dwarfism

MalaCards integrated aliases for Laron Dwarfism:

Name: Laron Dwarfism 54 50 25 71 13
Laron Syndrome 12 50 24 25 56 71 52 42 14 69
Growth Hormone Receptor Deficiency 50 25 56 71
Pituitary Dwarfism Ii 50 24 25 71
Laron-Type Isolated Somatotropin Defect 12 25 29
Growth Hormone Insensitivity Syndrome 50 25 71
Primary Growth Hormone Resistance 50 25 56
Primary Growth Hormone Insensitivity 50 56
Laron Type Pituitary Dwarfism I 50 71
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 71

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;

OMIM:

54
Inheritance:
autosomal recessive.


HPO:

32
laron dwarfism:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare endocrine diseases


Summaries for Laron Dwarfism

OMIM : 54
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 Dwarfism, also known as laron syndrome, is related to growth hormone insensitivity, partial and growth hormone insensitivity with immunodeficiency, and has symptoms including hypercholesterolemia, high forehead and micrognathia. 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 Hormones and insulin 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

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 : 71 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.

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.

Wikipedia : 72 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 88)
id Related Disease Score Top Affiliating Genes
1 growth hormone insensitivity, partial 28.6 GH1 GHR IGF1 IGF2 IGFBP3 STAT5B
2 growth hormone insensitivity with immunodeficiency 11.7
3 infantile liver failure syndrome 1 11.2
4 pyuria 11.2
5 conjugate gaze palsy 10.9
6 hiatus hernia 10.9
7 patellofemoral pain syndrome 10.9
8 retinitis pigmentosa 66 10.9
9 chronic salpingitis 10.9
10 mental retardation, x-linked, snyder-robinson type 10.9
11 osmotic diarrhea 10.9
12 dwarfism 10.6
13 acyl-coa dehydrogenase, short-chain, deficiency of 10.4 GHR IGF1
14 acromegaly 10.4
15 epiphyseal chondrodysplasia, miura type 10.3 GHR IGF1
16 small cell lung cancer, childhood 10.3 IGF1 IGFBP3
17 selenium poisoning 10.3 IGF1 IGFBP3
18 pulmonary large cell neuroendocrine carcinoma 10.3 IGF1 IGFBP3
19 pediatric osteosarcoma 10.3 GHR IGFBP3
20 lacrimal duct obstruction 10.3 IGF1 IGF2
21 hyperlipoproteinemia, type ib 10.3 IGF1 IGFBP3
22 febrile infection-related epilepsy syndrome 10.3 IGF1 IGF2
23 osteopetrosis 10.3 IGF1 IGF2
24 glomerulosclerosis, focal segmental, 1 10.3 IGF1 IGFBP3
25 simple cryoglobulinemia 10.3 GH1 GHR
26 phacolytic glaucoma 10.2 IGF1 IGFBP3
27 algoneurodystrophy 10.2 IGF1 IGF2
28 bell's palsy 10.2 IGF2 IGFBP3
29 hallux varus and preaxial polysyndactyly 10.2 IGF1 IGF2
30 strabismus 10.2 GH1 GHR
31 neurogenic arthropathy 10.2 IGF1 IGF2
32 chondroma 10.2 IGF1 IGF2
33 hypothyroidism, congenital, nongoitrous 4 10.2 GH1 IGF1
34 condrodisplasia punctata rizomélica 10.2 IGF2 IGFBP3
35 caffey disease 10.2 IGF1 IGFBP3
36 osseous heteroplasia, progressive 10.2 GH1 IGF1
37 dwarfism familial with muscle spasms 10.1 GH1 GHR
38 male genital organ stricture 10.1 GH1 IGFBP3
39 haverhill fever 10.1 IGF1 IGF2
40 psychogenic movement 10.1 GH1 IGF1
41 worth's syndrome 10.1 GH1 IGF1
42 congenital hypomyelination neuropathy 10.1 IGF1 IGFBP3
43 uterine ligament clear cell adenocarcinoma 10.0 GH1 IGF1
44 capillary lymphangioma 10.0 GH1 IGF1
45 albinism, oculocutaneous, type ia 10.0 IGF1 IGFBP3
46 alpha-methylacyl-coa racemase deficiency 10.0 GH1 IGF1
47 medullomyoblastoma 9.9 IGF1 IGFBP3
48 pituitary adenoma, acth-secreting 9.9 GH1 IGF1
49 carcinoid syndrome 9.9
50 leopard syndrome 1 9.9 GHR IGF1 IGFBP3

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



Diseases related to Laron Dwarfism

Symptoms & Phenotypes for Laron Dwarfism

Symptoms via clinical synopsis from OMIM:

54

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 Dwarfism:

56 32 (show all 48)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypercholesterolemia 56 32 hallmark (90%) Occasional (29-5%) HP:0003124
2 high forehead 56 32 hallmark (90%) Very frequent (99-80%) HP:0000348
3 micrognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000347
4 hypoplastic nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0005281
5 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
6 hypoglycemia 56 32 frequent (33%) Frequent (79-30%) HP:0001943
7 delayed puberty 56 32 frequent (33%) Frequent (79-30%) HP:0000823
8 motor delay 56 32 frequent (33%) Frequent (79-30%) HP:0001270
9 osteoarthritis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002758
10 microdontia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000691
11 hypohidrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000966
12 delayed skeletal maturation 56 32 frequent (33%) Very frequent (99-80%) HP:0002750
13 truncal obesity 56 32 occasional (7.5%) Very frequent (99-80%) HP:0001956
14 blue sclerae 56 32 occasional (7.5%) Occasional (29-5%) HP:0000592
15 high pitched voice 56 32 occasional (7.5%) Occasional (29-5%) HP:0001620
16 depressed nasal ridge 56 32 occasional (7.5%) Occasional (29-5%) HP:0000457
17 delayed eruption of teeth 56 32 frequent (33%) Very frequent (99-80%) HP:0000684
18 underdeveloped supraorbital ridges 56 32 frequent (33%) Frequent (79-30%) HP:0009891
19 hypoplasia of penis 56 32 frequent (33%) Frequent (79-30%) HP:0008736
20 abnormal facial shape 56 32 hallmark (90%) Very frequent (99-80%) HP:0001999
21 short toe 56 32 frequent (33%) Frequent (79-30%) HP:0001831
22 prematurely aged appearance 56 32 occasional (7.5%) Occasional (29-5%) HP:0007495
23 reduced number of teeth 56 32 hallmark (90%) Very frequent (99-80%) HP:0009804
24 severe short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0003510
25 abnormality of the elbow 56 32 frequent (33%) Frequent (79-30%) HP:0009811
26 aplasia/hypoplasia involving the nose 56 32 hallmark (90%) Very frequent (99-80%) HP:0009924
27 short stature 32 hallmark (90%) HP:0004322
28 failure to thrive 32 hallmark (90%) HP:0001508
29 brachydactyly 32 frequent (33%) HP:0001156
30 microcephaly 32 hallmark (90%) HP:0000252
31 large fontanelles 32 occasional (7.5%) HP:0000239
32 immunodeficiency 32 occasional (7.5%) HP:0002721
33 hypogonadism 32 occasional (7.5%) HP:0000135
34 fine hair 32 frequent (33%) HP:0002213
35 diabetes insipidus 32 occasional (7.5%) HP:0000873
36 insulin resistance 32 hallmark (90%) HP:0000855
37 small face 32 HP:0000274
38 hearing impairment 32 occasional (7.5%) HP:0000365
39 type ii diabetes mellitus 32 frequent (33%) HP:0005978
40 everted lower lip vermilion 32 hallmark (90%) HP:0000232
41 abnormality of the nail 32 occasional (7.5%) HP:0001597
42 abnormality of metabolism/homeostasis 32 HP:0001939
43 short long bone 32 HP:0003026
44 abnormality of the skull 56 Occasional (29-5%)
45 abnormality of the endocrine system 56 Very frequent (99-80%)
46 brachydactyly syndrome 56 Frequent (79-30%)
47 abnormal joint morphology 32 HP:0001367
48 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 IGF1 IGF2 GH1
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 9.77 GHR IGF1 IGF2 IGFBP3 STAT5B
2 integument MP:0010771 9.72 GHR IGF1 IGF2 IGFBP3 STAT5B
3 adipose tissue MP:0005375 9.71 IGF1 IGFBP3 STAT5B GHR
4 liver/biliary system MP:0005370 9.46 GHR IGF2 IGFBP3 STAT5B
5 limbs/digits/tail MP:0005371 9.43 GHR IGF1 IGF2
6 muscle MP:0005369 9.26 GHR IGF1 IGF2 IGFBP3
7 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 Hormones Phase 2, 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:


id 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 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
Laron dwarfism and non-insulin-dependent diabetes mellitus in the Hnf-1alpha knockout mouse. ( 9566924 )
1998
2
Growth hormone insensitivity syndrome (Laron dwarfism). ( 9554471 )
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
Effects of the infusion of insulin-like growth factor I in a child with growth hormone insensitivity syndrome (Laron dwarfism). ( 2023608 )
1991
7
Molecular basis of Laron dwarfism. ( 18411163 )
1991
8
Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism. ( 1999489 )
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
Laron dwarfism and mutations of the growth hormone-receptor gene. ( 2779634 )
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
The molecular biology of Laron dwarfism and medullary thyroid cancer. ( 2571085 )
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:

71 (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 15)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.09 GH1 GHR IGF1 IGF2 STAT5B
2
Show member pathways
12.99 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
12.33 GH1 IGF1 IGF2
6
Show member pathways
11.94 IGF1 IGF2 IGFBP3 STAT5B
7
Show member pathways
11.85 GH1 GHR STAT5B
8 11.66 GH1 IGF1 STAT5B
9 11.36 GH1 IGF1 IGF2
10 11.31 IGF1 IGF2
11 11.23 IGF1 IGF2
12
Show member pathways
10.94 GH1 GHR STAT5B
13
Show member pathways
10.89 IGF1 IGF2
14 10.83 GH1 GHR IGF1 IGF2 STAT5B
15 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 29)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.81 IGF1 IGF2 STAT5B
2 cellular protein metabolic process GO:0044267 9.79 IGF1 IGF2 IGFBP3
3 positive regulation of MAPK cascade GO:0043410 9.71 IGF1 IGF2 IGFBP3
4 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.67 GH1 GHR IGF1
5 positive regulation of catalytic activity GO:0043085 9.64 IGF2 IGFBP3
6 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.63 GH1 IGF1
7 cellular response to hormone stimulus GO:0032870 9.63 GHR STAT5B
8 positive regulation of mitotic nuclear division GO:0045840 9.62 IGF1 IGF2
9 positive regulation of JAK-STAT cascade GO:0046427 9.61 GH1 GHR
10 2-oxoglutarate metabolic process GO:0006103 9.61 GHR STAT5B
11 positive regulation of glycogen biosynthetic process GO:0045725 9.6 IGF1 IGF2
12 insulin-like growth factor receptor signaling pathway GO:0048009 9.59 GHR IGF1
13 oxaloacetate metabolic process GO:0006107 9.58 GHR STAT5B
14 creatine metabolic process GO:0006600 9.58 GHR STAT5B
15 positive regulation of multicellular organism growth GO:0040018 9.58 GH1 GHR STAT5B
16 succinate metabolic process GO:0006105 9.57 GHR STAT5B
17 growth hormone receptor signaling pathway GO:0060396 9.56 GH1 GHR
18 citrate metabolic process GO:0006101 9.55 GHR STAT5B
19 JAK-STAT cascade GO:0007259 9.54 GH1 GHR STAT5B
20 taurine metabolic process GO:0019530 9.52 GHR STAT5B
21 valine metabolic process GO:0006573 9.51 GHR STAT5B
22 positive regulation of activated T cell proliferation GO:0042104 9.5 IGF1 IGF2 STAT5B
23 creatinine metabolic process GO:0046449 9.48 GHR STAT5B
24 isoleucine metabolic process GO:0006549 9.46 GHR STAT5B
25 allantoin metabolic process GO:0000255 9.43 GHR STAT5B
26 regulation of multicellular organism growth GO:0040014 9.43 GHR IGF1 STAT5B
27 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.33 GH1 GHR STAT5B
28 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.13 GH1 IGF1 IGFBP3
29 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 insulin receptor binding GO:0005158 9.26 IGF1 IGF2
2 insulin-like growth factor receptor binding GO:0005159 9.16 IGF1 IGF2
3 growth factor activity GO:0008083 9.13 GH1 IGF1 IGF2
4 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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