Laron Dwarfism malady

Genetic diseases, Rare diseases, Endocrine diseases categories

Aliases & Classifications for Laron Dwarfism

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46OMIM, 8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 56SNOMED-CT, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Aliases & Descriptions for Laron Dwarfism:

Name: Laron Dwarfism 46 9 42
Laron Syndrome 46 8 42 10 44 48 61
Short Stature Due to Growth Hormone Resistance 42 48
Laron-Type Isolated Somatotropin Defect 8 22
Complete Growth Hormone Insensitivity 42 48
Primary Growth Hormone Insensitivity 42 48
Growth Hormone Receptor Deficiency 42 48
Primary Growth Hormone Resistance 42 48
Primary Gh Insensitivity 42 48
Gh Receptor Deficiency 42 48
Primary Gh Resistance 42 48
Pituitary Dwarfism Ii 42 20
Laron-Type Dwarfism 42 48
Growth Hormone Insensitivity Syndrome 42
Laron Type Pituitary Dwarfism I 42


Characteristics (Orphanet epidemiological data):

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

External Ids:

OMIM46 262500
Disease Ontology8 DOID:9521
MeSH33 D046150
Orphanet48 633
SNOMED-CT56 38196001
MESH via Orphanet34 D046150
ICD10 via Orphanet26 E34.3
UMLS via Orphanet62 C0271568

Summaries for Laron Dwarfism

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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 based summary: Laron Dwarfism, also known as laron syndrome, is related to dwarfism and gigantism, and has symptoms including everted lower lip vermilion, microcephaly and insulin resistance. An important gene associated with Laron Dwarfism is GHR (growth hormone receptor), and among its related pathways are NF-KappaB Family Pathway and p70S6K Signaling. The compounds somatuline and quinagolide have been mentioned in the context of this disorder. Affiliated tissues include pituitary, bone and eye, and related mouse phenotypes are reproductive system and adipose tissue.

OMIM:46 Laron syndrome is an autosomal recessive disorder characterized by marked short stature that results from failure to... (262500) more...

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

Related Diseases for Laron Dwarfism

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

(show top 50)    (show all 64)
idRelated DiseaseScoreTop Affiliating Genes
1dwarfism30.9GH1, GHR, IGF1
2gigantism30.3IGF1, GH1
3growth hormone deficiency30.2GHR, GH1, IGF1
4obesity30.2GH1, IGF1, GHR
5hyperandrogenism30.1IGF1, GH1
6hypothyroidism29.8GHR, IGF1, GH1
7hyperglycemia29.8IGF1, GHR, GH1
8rabson-mendenhall syndrome10.4IGF1
9growth hormone insensitivity with immunodeficiency10.3
10laron syndrome with immunodeficiency10.3
11isolated growth hormone deficiency10.2
14chiari malformation10.2
15bell's palsy10.2
17short stature due to partial ghr deficiency10.2
18insulin-like growth factor i10.2
19thyroid cancer10.2
21turner syndrome10.2GHR, IGF1
22growth retardation with deafness and mental retardation due to igf1 deficiency10.1IGF1, GHR
23noonan syndrome 110.1GHR, IGF1
24spinal stenosis10.1
25michelin tire baby syndrome10.1
27osteoporosis10.1IGF1, GHR
28microvascular complications of diabetes 110.1IGF1, GHR
29insulin-like growth factor 1 resistance to10.0IGF1, GH1
30pituitary gigantism10.0IGF1, GH1
31empty sella syndrome10.0GH1, IGF1
32gonadal disease10.0GH1, IGF1
33idiopathic juvenile osteoporosis10.0IGF1, GH1
34hypothryoidism, congenital, nongoitrous 410.0GH1, IGF1
35pituitary gland disease10.0GH1, IGF1
36craniopharyngioma10.0IGF1, GH1
37hyperprolactinemia10.0GH1, IGF1
38fibrous dysplasia10.0GHR, GH1
39prader-willi syndrome10.0IGF1, GH1
40adrenal gland hyperfunction10.0GH1, GHR
41prolactinoma10.0GH1, IGF1
42osteosarcoma, somatic10.0GHR, IGF1
43cushing's syndrome9.9GH1, IGF1
44hypogonadism9.9IGF1, GH1
45glucose intolerance9.9IGF1, GH1
46chronic kidney failure9.9GHR, IGF1
47polycystic ovary syndrome9.9IGF1, GH1
48insulinoma9.8GH1, GHR
49prostate cancer9.8GHR, IGF1
50pituitary hormone deficiency, combined, 29.8GHR, GH1, IGF1

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

Diseases related to laron dwarfism

Symptoms for Laron Dwarfism

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



 48 (show all 31)
  • high forehead
  • facial dysmorphism
  • micrognathia/retrognathia/micrognathism/retrognathism
  • nasal atrophy/hypoplasia/arhinia/rudimentary nose
  • complete/partial microdontia
  • anodontia/oligodontia/hypodontia
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • anomalies of the endocrine glands
  • delayed bone age
  • autosomal recessive inheritance
  • truncal obesity
  • short stature/dwarfism/nanism
  • flat supraorbital ridge
  • elbow anomalies(excluding luxation)
  • short hand/brachydactyly
  • short foot/brachydactyly of toes
  • micropenis/small penis/agenesis
  • hypoglycemia
  • late puberty/hypogonadism/hypogenitalism
  • motor deficit/trouble
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • skull/cranial anomalies
  • blue sclerae
  • flattened nose
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • hairy patch
  • abnormal cry/voice/phonation disorder/nasal speech
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • osteoarthritis
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • premature ageing

HPO human phenotypes related to Laron Dwarfism:

(show all 50)
id Description Frequency HPO Source Accession
1 everted lower lip vermilion hallmark (90%) HP:0000232
2 microcephaly hallmark (90%) HP:0000252
3 insulin resistance hallmark (90%) HP:0000855
4 abnormal facial shape hallmark (90%) HP:0001999
5 abnormality of lipid metabolism hallmark (90%) HP:0003119
6 short stature hallmark (90%) HP:0004322
7 micrognathia hallmark (90%) HP:0000347
8 high forehead hallmark (90%) HP:0000348
9 delayed eruption of teeth hallmark (90%) HP:0000684
10 microdontia hallmark (90%) HP:0000691
11 abnormality of the endocrine system hallmark (90%) HP:0000818
12 truncal obesity hallmark (90%) HP:0001956
13 delayed skeletal maturation hallmark (90%) HP:0002750
14 reduced number of teeth hallmark (90%) HP:0009804
15 aplasia/hypoplasia involving the nose hallmark (90%) HP:0009924
16 delayed eruption of teeth typical (50%) HP:0000684
17 hypoglycemia typical (50%) HP:0001943
18 fine hair typical (50%) HP:0002213
19 delayed skeletal maturation typical (50%) HP:0002750
20 type ii diabetes mellitus typical (50%) HP:0005978
21 hypoplasia of penis typical (50%) HP:0008736
22 brachydactyly syndrome typical (50%) HP:0001156
23 short toe typical (50%) HP:0001831
24 amyotrophy typical (50%) HP:0003202
25 abnormality of the elbow typical (50%) HP:0009811
26 underdeveloped supraorbital ridges typical (50%) HP:0009891
27 abnormality of the fontanelles or cranial sutures occasional (7.5%) HP:0000235
28 hearing impairment occasional (7.5%) HP:0000365
29 diabetes insipidus occasional (7.5%) HP:0000873
30 abnormality of the nail occasional (7.5%) HP:0001597
31 abnormality of the voice occasional (7.5%) HP:0001608
32 truncal obesity occasional (7.5%) HP:0001956
33 abnormality of immune system physiology occasional (7.5%) HP:0010978
34 cognitive impairment occasional (7.5%) HP:0100543
35 depressed nasal ridge occasional (7.5%) HP:0000457
36 blue sclerae occasional (7.5%) HP:0000592
37 hypohidrosis occasional (7.5%) HP:0000966
38 hypertrichosis occasional (7.5%) HP:0000998
39 osteoarthritis occasional (7.5%) HP:0002758
40 abnormality of lipid metabolism occasional (7.5%) HP:0003119
41 prematurely aged appearance occasional (7.5%) HP:0007495
42 autosomal recessive inheritance HP:0000007
43 small face HP:0000274
44 blue sclerae HP:0000592
45 abnormal joint morphology HP:0001367
46 high pitched voice HP:0001620
47 abnormality of metabolism/homeostasis HP:0001939
48 delayed skeletal maturation HP:0002750
49 short long bones HP:0003026
50 delayed menarche HP:0012569

Drugs & Therapeutics for Laron Dwarfism

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Drug clinical trials:

Search ClinicalTrials for Laron Dwarfism

Search NIH Clinical Center for Laron Dwarfism

Genetic Tests for Laron Dwarfism

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Genetic tests related to Laron Dwarfism:

id Genetic test Affiliating Genes
1 Pituitary Dwarfism Ii20 GHR
2 Laron-Type Isolated Somatotropin Defect22

Anatomical Context for Laron Dwarfism

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MalaCards organs/tissues related to Laron Dwarfism:

Pituitary, Bone, Eye, Skin, Thyroid

Animal Models for Laron Dwarfism or affiliated genes

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MGI Mouse Phenotypes related to Laron Dwarfism:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.5GH1, GHR, IGF1
2MP:00053758.4GH1, GHR, IGF1
3MP:00053798.2GH1, GHR, IGF1

Publications for Laron Dwarfism

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Articles related to Laron Dwarfism:

(show all 18)
Laron dwarfism and non-insulin-dependent diabetes mellitus in the Hnf-1alpha knockout mouse. (9566924)
Growth hormone insensitivity syndrome (Laron dwarfism). (9554471)
Radiographic abnormalities in Laron dwarfism. (7800446)
Laron dwarfism in the Arabian Gulf: a report of a sibship. (7505559)
Lack of hormone binding in COS-7 cells expressing a mutated growth hormone receptor found in Laron dwarfism. (8450064)
Laron dwarfism. (1670793)
Molecular basis of Laron dwarfism. (18411163)
Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism. (1999489)
Effects of the infusion of insulin-like growth factor I in a child with growth hormone insensitivity syndrome (Laron dwarfism). (2023608)
Correction and withdrawal of conclusion--a child with phenotypic Laron dwarfism and normal somatomedin levels. (2288600)
Growth hormone-receptor gene in Laron dwarfism. (2308623)
A child with phenotypic Laron dwarfism and normal somatomedin levels. (2913494)
Laron dwarfism and mutations of the growth hormone-receptor gene. (2779634)
A child with phenotypic Laron dwarfism and normal somatomedin levels. (2725626)
The molecular biology of Laron dwarfism and medullary thyroid cancer. (2571085)
Laron dwarfism: cellular unresponsiveness to GH demonstrated on cultured lymphocytes by a cytochemical method. (3169682)
Absence of serum growth hormone binding protein in patients with growth hormone receptor deficiency (Laron dwarfism). (3474620)
Fractionation studies on plasma of normals and patients with Laron dwarfism and hypopituitary gigantism. (4762432)

Variations for Laron Dwarfism

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

63 (show all 18)
id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Laron Dwarfism:

5 (show all 21)
id Gene Variation Type Significance SNP ID Assembly Location
1GHRGHR, EX4,6DELdeletionPathogenic
2GHRNM_000163.4(GHR): c.341T> C (p.Phe114Ser)single nucleotide variantPathogenicrs121909357GRCh37Chr 5, 42695093: 42695093
3GHRNM_000163.4(GHR): c.181C> T (p.Arg61Ter)single nucleotide variantPathogenicrs121909358GRCh37Chr 5, 42689036: 42689036
4GHRNM_000163.4(GHR): c.168C> A (p.Cys56Ter)single nucleotide variantPathogenicrs121909359GRCh37Chr 5, 42689023: 42689023
5GHRNM_000163.4(GHR): c.594A> G (p.Glu198=)single nucleotide variantPathogenicrs121909360GRCh37Chr 5, 42700080: 42700080
6GHRNM_000163.4(GHR): c.703C> T (p.Arg235Ter)single nucleotide variantPathogenicrs121909363GRCh37Chr 5, 42711393: 42711393
7GHRGHR, IVS4DS, G-A, +1single nucleotide variantPathogenic
8GHRGHR, 2-BP DEL, FS51TERdeletionPathogenic
9GHRGHR, IVS6AS, G-T, -1single nucleotide variantPathogenic
10GHRGHR, 2-BP DEL, FS234TERdeletionPathogenic
11GHRNM_000163.4(GHR): c.515A> C (p.Gln172Pro)single nucleotide variantPathogenicrs121909368GRCh37Chr 5, 42700001: 42700001
12GHRNM_000163.4(GHR): c.518T> G (p.Val173Gly)single nucleotide variantPathogenicrs121909369GRCh37Chr 5, 42700004: 42700004
13GHRNM_000163.4(GHR): c.508G> C (p.Asp170His)single nucleotide variantPathogenicrs121909366GRCh37Chr 5, 42699994: 42699994
14GHRNM_000163.4(GHR): c.512T> C (p.Ile171Thr)single nucleotide variantPathogenicrs121909367GRCh37Chr 5, 42699998: 42699998
15GHRGHR, PSEUDOEXON(-1)A-Gsingle nucleotide variantPathogenic
16GHRGHR, 22-BP DELdeletionPathogenic
17GHRNM_000163.4(GHR): c.102G> A (p.Trp34Ter)single nucleotide variantPathogenicrs121909370GRCh37Chr 5, 42629171: 42629171
18GHRNM_000163.4(GHR): c.303C> A (p.Cys101Ter)single nucleotide variantPathogenicrs121909371GRCh37Chr 5, 42695055: 42695055
19GHRGHR, 1-BP DEL, 1776GdeletionPathogenic
20GHRNM_000163.4(GHR): c.335G> C (p.Cys112Ser)single nucleotide variantPathogenicrs121909372GRCh37Chr 5, 42695087: 42695087
21GHRNM_000163.4(GHR): c.504T> G (p.His168Gln)single nucleotide variantPathogenicrs121909373GRCh37Chr 5, 42699990: 42699990

Expression for genes affiliated with Laron Dwarfism

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Search GEO for disease gene expression data for Laron Dwarfism.

Pathways for genes affiliated with Laron Dwarfism

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

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
Show member pathways
9.1GH1, IGF1
Show member pathways
9.1GH1, IGF1
39.1GH1, IGF1
Show member pathways
9.1IGF1, GH1
Show member pathways
9.0GH1, GHR
Show member pathways
9.0GH1, GHR
Show member pathways
9.0GH1, GHR
Show member pathways
Type III interferon signaling36
9.0GH1, GHR
99.0GH1, GHR
Show member pathways
8.5IGF1, GHR, GH1
118.5IGF1, GHR, GH1
Show member pathways
8.5GH1, GHR, IGF1
138.5GH1, GHR, IGF1
Show member pathways
8.5GH1, GHR, IGF1

Compounds for genes affiliated with Laron Dwarfism

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

(show top 50)    (show all 65)
idCompoundScoreTop Affiliating Genes
1somatuline449.5IGF1, GH1
2quinagolide449.5GH1, IGF1
3oxandrolone44 1110.5IGF1, GH1
4pyridostigmine44 1110.5IGF1, GH1
5acipimox44 2810.5IGF1, GH1
6pirenzepine44 28 1111.5IGF1, GH1
7clomiphene citrate449.5IGF1, GH1
8naltrexone44 28 50 1112.5GH1, IGF1
9cortisone44 2410.4IGF1, GH1
10pyridinoline449.4GH1, IGF1
11deoxypyridinoline449.4GH1, IGF1
12alendronate44 50 1111.4GH1, IGF1
13raloxifene44 50 28 1112.2GH1, IGF1
14l-nmma449.1IGF1, GH1
15dhea449.1GH1, IGF1
16ghrp449.0IGF1, GHR, GH1
17hexarelin44 2810.0GHR, GH1, IGF1
18pegvisomant44 1110.0GHR, IGF1, GH1
19leuprolide acetate449.0IGF1, GHR, GH1
20lanreotide44 2810.0IGF1, GHR, GH1
21cabergoline44 28 1110.9GH1, GHR, IGF1
22bromocriptine44 28 1110.9IGF1, GH1, GHR
23dehydroepiandrosterone sulfate448.9GH1, IGF1, GHR
24clonidine44 50 28 1111.9IGF1, GHR, GH1
25octreotide44 60 28 1111.9GH1, GHR, IGF1
26c-peptide448.9GH1, GHR, IGF1
27procollagen448.9GH1, GHR, IGF1
28triiodothyronine448.9IGF1, GHR, GH1
29androstenedione44 249.9GH1, GHR, IGF1
30levodopa44 119.9IGF1, GH1, GHR
31dihydrotestosterone44 28 24 1111.9GH1, GHR, IGF1
32thyroxine44 249.9GHR, GH1, IGF1
33acth448.9IGF1, GHR, GH1
34calcitriol44 60 24 1111.9GH1, GHR, IGF1
35gnrh448.9IGF1, GHR, GH1
36ribonucleic acid448.9GHR, IGF1, GH1
37tamoxifen44 50 28 1111.9GHR, IGF1, GH1
38vitamin d448.9IGF1, GH1, GHR
39estradiol44 24 1110.9IGF1, GHR, GH1
40glutamine448.8GHR, GH1, IGF1
41metformin44 50 1110.8IGF1, GH1
42dopamine44 28 24 1111.8GH1, IGF1, GHR
43thymidine44 249.8GHR, IGF1, GH1
44creatinine448.8GH1, GHR, IGF1
45cycloheximide448.7GHR, IGF1, GH1
46progesterone44 28 60 24 1112.7GHR, IGF1, GH1
47testosterone44 60 24 1111.7GH1, GHR, IGF1
48steroid448.7GH1, GHR, IGF1
49dexamethasone44 50 28 1111.6GH1, GHR, IGF1
50arginine448.4IGF1, GHR, GH1

GO Terms for genes affiliated with Laron Dwarfism

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

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055768.5GH1, GHR, IGF1
2extracellular spaceGO:00056158.2GH1, GHR, IGF1

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor receptor signaling pathwayGO:00480099.5GHR, IGF1
2regulation of multicellular organism growthGO:00400149.4IGF1, GHR
3positive regulation of insulin-like growth factor receptor signaling pathwayGO:00435689.3GH1, IGF1
4growth hormone receptor signaling pathwayGO:00603969.3GHR, GH1
5JAK-STAT cascade involved in growth hormone signaling pathwayGO:00603979.2GHR, GH1
6positive regulation of tyrosine phosphorylation of Stat3 proteinGO:00425179.1GHR, GH1
7JAK-STAT cascadeGO:00072599.0GHR, GH1
8response to estradiolGO:00323559.0GH1, GHR
9positive regulation of multicellular organism growthGO:00400188.9GH1, GHR
10positive regulation of phosphatidylinositol 3-kinase signalingGO:00140688.8GH1, IGF1
11positive regulation of tyrosine phosphorylation of Stat5 proteinGO:00425238.8GH1, GHR, IGF1
12positive regulation of peptidyl-tyrosine phosphorylationGO:00507318.7GH1, GHR, IGF1

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

idNameGO IDScoreTop Affiliating Genes
1growth factor activityGO:00080839.1GH1, IGF1
2hormone activityGO:00051798.8GH1, IGF1

Sources for Laron Dwarfism

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26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet