MCID: LRN004
MIFTS: 57

Laron Dwarfism malady

Categories: Genetic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Laron Dwarfism

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 23Genetics Home Reference, 67UniProtKB/Swiss-Prot, 10Disease Ontology, 22GeneTests, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 24GTR, 27ICD10, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Laron Dwarfism:

Name: Laron Dwarfism 49 11 45 23 67
Laron Syndrome 10 45 22 23 47 12 51 67 36 65
Growth Hormone Receptor Deficiency 45 23 51 67
Pituitary Dwarfism Ii 45 22 23 67
Laron-Type Isolated Somatotropin Defect 10 23 24
Growth Hormone Insensitivity Syndrome 45 23 67
Primary Growth Hormone Resistance 45 23 51
Primary Growth Hormone Insensitivity 45 51
Laron Type Pituitary Dwarfism I 45 67
Primary Gh Resistance 23 51
Laron-Type Dwarfism 23 51
 
Short Stature Due to Growth Hormone Resistance 51
Complete Growth Hormone Insensitivity 51
Growth Hormone Receptor Defect 23
Laron-Type Pituitary Dwarfism 23
Laron-Type Short Stature 23
Primary Gh Insensitivity 51
Severe Gh Insensitivity 23
Gh Receptor Deficiency 51
Gh-R Deficiency 23
Lars 67

Characteristics:

Orphanet epidemiological data:

51
laron syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

61
laron dwarfism:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 262500
Disease Ontology10 DOID:9521
ICD1027 E34.3
MeSH36 D046150
Orphanet51 633
SNOMED-CT59 38196001
ICD10 via Orphanet28 E34.3
MESH via Orphanet37 D046150
UMLS via Orphanet66 C0271568
MedGen34 C0271568
UMLS65 C0271568

Summaries for Laron Dwarfism

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OMIM:49 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 laron syndrome with immunodeficiency and infantile liver failure syndrome 1, and has symptoms including aplasia/hypoplasia involving the nose, reduced number of teeth and delayed skeletal maturation. An important gene associated with Laron Dwarfism is GHR (Growth Hormone Receptor), and among its related pathways are Cardiac Progenitor Differentiation and Cell adhesion_ECM remodeling. Affiliated tissues include pituitary, brain and bone, and related mouse phenotypes are muscle and liver/biliary system.

Genetics Home Reference:23 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:45 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:67 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:68 Laron\'s 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 89)
idRelated DiseaseScoreTop Affiliating Genes
1laron syndrome with immunodeficiency12.3
2infantile liver failure syndrome 111.7
3short stature due to partial ghr deficiency11.6
4growth hormone insensitivity with immunodeficiency11.6
5alagille syndrome11.4
6osmotic diarrhea11.4
7desbuquois dysplasia11.4
8conjugate gaze palsy11.4
9hiatus hernia11.4
10patellofemoral pain syndrome11.4
11pyuria11.4
12chronic salpingitis11.4
13waterhouse-friderichsen syndrome11.4
14acute infantile liver failure-multisystemic involvement syndrome11.2
15michelin tire baby syndrome10.4
16cerebritis10.3
17myxoid liposarcoma10.3
18liposarcoma10.3
19acyl-coa dehydrogenase, short-chain, deficiency of10.3GHR, IGF1
20breast cancer10.2
21leukemia10.2
22lymphoma10.2
23lymphoblastic leukemia10.2
24factor viii deficiency10.2
25dysostosis10.2
26arteriosclerosis10.2
27arteriosclerosis obliterans10.2
28paget's disease of bone10.2
29vesicoureteral reflux10.2
30periodontosis10.2
31secondary glomerular disease10.2IGF1, IGFBP3
32cetp-related hyperalphalipoproteinemia10.2IGF1, IGFBP3
33glomerulosclerosis, focal segmental, 110.2IGF1, IGFBP3
34childhood central nervous system immature teratoma10.2IGF1, IGFBP3
35bacterial esophagitis10.2IGF1, IGF2
36fetal methimazole syndrome10.2IGF1, IGF2
37hypotrichosis10.2IGF1, IGF2
38extraosseous osteosarcoma10.1GHR, IGFBP3
39fatal infantile encephalomyopathy10.1IGF1, IGF2
40osteonecrosis10.1IGF1, IGF2
41diabetes mellitus, insulin-resistant, with acanthosis nigricans10.1IGF1, IGFBP3
42struma ovarii10.1IGF1, IGF2
43atheroembolism of kidney10.1GHR, IGFBP3
44primary hypertrophic osteoarthropathy10.1IGF1, IGF2
45hypothryoidism, congenital, nongoitrous 410.1GH1, IGF1
46alzheimer disease type 110.1GH1, GHR
47colorectal cancer10.1
48hypothyroidism10.1
49hepatic flexure cancer10.1IGF1, IGF2
50ulcer of lower limbs10.1GH1, 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:

262500

Clinical features from OMIM:

262500

Symptoms:

 51 (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 49)
id Description Frequency HPO Source Accession
1 aplasia/hypoplasia involving the nose hallmark (90%) HP:0009924
2 reduced number of teeth hallmark (90%) HP:0009804
3 delayed skeletal maturation hallmark (90%) HP:0002750
4 abnormal facial shape hallmark (90%) HP:0001999
5 truncal obesity hallmark (90%) HP:0001956
6 microdontia hallmark (90%) HP:0000691
7 delayed eruption of teeth hallmark (90%) HP:0000684
8 high forehead hallmark (90%) HP:0000348
9 micrognathia hallmark (90%) HP:0000347
10 everted lower lip vermilion hallmark (90%) HP:0000232
11 microcephaly hallmark (90%) HP:0000252
12 insulin resistance hallmark (90%) HP:0000855
13 abnormality of lipid metabolism hallmark (90%) HP:0003119
14 short stature hallmark (90%) HP:0004322
15 underdeveloped supraorbital ridges typical (50%) HP:0009891
16 abnormality of the elbow typical (50%) HP:0009811
17 hypoplasia of penis typical (50%) HP:0008736
18 skeletal muscle atrophy typical (50%) HP:0003202
19 hypoglycemia typical (50%) HP:0001943
20 short toe typical (50%) HP:0001831
21 brachydactyly syndrome typical (50%) HP:0001156
22 delayed eruption of teeth typical (50%) HP:0000684
23 fine hair typical (50%) HP:0002213
24 delayed skeletal maturation typical (50%) HP:0002750
25 type ii diabetes mellitus typical (50%) HP:0005978
26 cognitive impairment occasional (7.5%) HP:0100543
27 prematurely aged appearance occasional (7.5%) HP:0007495
28 abnormality of lipid metabolism occasional (7.5%) HP:0003119
29 osteoarthritis occasional (7.5%) HP:0002758
30 abnormality of the voice occasional (7.5%) HP:0001608
31 hypertrichosis occasional (7.5%) HP:0000998
32 hypohidrosis occasional (7.5%) HP:0000966
33 blue sclerae occasional (7.5%) HP:0000592
34 depressed nasal ridge occasional (7.5%) HP:0000457
35 abnormality of the fontanelles or cranial sutures occasional (7.5%) HP:0000235
36 hearing impairment occasional (7.5%) HP:0000365
37 diabetes insipidus occasional (7.5%) HP:0000873
38 abnormality of the nail occasional (7.5%) HP:0001597
39 truncal obesity occasional (7.5%) HP:0001956
40 abnormality of immune system physiology occasional (7.5%) HP:0010978
41 delayed menarche HP:0012569
42 severe short stature HP:0003510
43 short long bone HP:0003026
44 delayed skeletal maturation HP:0002750
45 abnormality of metabolism/homeostasis HP:0001939
46 high pitched voice HP:0001620
47 abnormal joint morphology HP:0001367
48 blue sclerae HP:0000592
49 small face HP:0000274

Drugs & Therapeutics for Laron Dwarfism

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1MitogensPhase 2, Phase 31386
2Insulin, Globin ZincPhase 2, Phase 34278
3insulinPhase 2, Phase 34278
4HormonesPhase 2, Phase 311748

Interventional clinical trials:

idNameStatusNCT IDPhase
1IGF-I/IGFBP-3 Therapy in Children and Adolescents With Growth Hormone Insenitivity Syndrome (GHIS) Such as Laron SyndromeCompletedNCT00368173Phase 2, Phase 3
2Long-Term Treatment With rhIGF-1 in GHISCompletedNCT00571727Phase 2, Phase 3
3Role of Growth Hormone Antagonism in Modulating Insulin Sensitivity in Subjects With Pre-diabetesCompletedNCT02023918Phase 2

Search NIH Clinical Center for Laron Dwarfism


Cochrane evidence based reviews: laron syndrome

Genetic Tests for Laron Dwarfism

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Genetic tests related to Laron Dwarfism:

id Genetic test Affiliating Genes
1 Pituitary Dwarfism Ii22 GHR

Anatomical Context for Laron Dwarfism

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MalaCards organs/tissues related to Laron Dwarfism:

33
Pituitary, Brain, Bone, Skeletal muscle, Prostate, Myeloid, Heart

Animal Models for Laron Dwarfism or affiliated genes

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MGI Mouse Phenotypes related to Laron Dwarfism:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.8GHR, IGF1, IGF2, IGFBP3
2MP:00053708.6GHR, IGF2, IGFBP3, STAT5B
3MP:00053678.6GHR, IGF1, IGF2, STAT5B
4MP:00053758.6GHR, IGF1, IGFBP3, STAT5B
5MP:00053798.2GHR, IGF1, IGF2, IGFBP3, STAT5B
6MP:00107718.2GHR, IGF1, IGF2, IGFBP3, STAT5B

Publications for Laron Dwarfism

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Articles related to Laron Dwarfism:

(show all 21)
idTitleAuthorsYear
1
Investigating the in Vitro Thermal Stability and Conformational Flexibility of Estrogen Receptors as Potential Key Factors of Their in Vivo Activity. (26029980)
2015
2
A case of CD138-/CD19+/CD4+ IgD plasma cell leukemia. (24715427)
2014
3
Repair of submucous cleft palate with Furlow palatoplasty. (22503447)
2012
4
Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy. (22264517)
2012
5
Hematopoietic stem cell transplantation rates and long-term survival in acute myeloid and lymphoblastic leukemia: real-world population-based data from the Swedish Acute Leukemia Registry 1997-2006. (21387283)
2011
6
Lymphoepithelioma-like carcinoma of the prostate. (19269013)
2009
7
Vulvitis circumscripta plasmacellularis: success with a modified treatment regimen using imiquimod. (16390720)
2006
8
Anti-inflammatory inhibitors of IkappaB kinase in asthma and COPD. (15573863)
2004
9
Waist circumference is a better predictor than body mass index of coronary heart disease risk in overweight premenopausal women. (15113947)
2004
10
Cystatin capture enzyme-linked immunosorbent assay for serodiagnosis of human clonorchiasis and profile of captured antigenic protein of Clonorchis sinensis. (11687443)
2001
11
The melanocortin-1 receptor: red hair and beyond. (11708951)
2001
12
Shigellosis in a squirrel monkey: a clinical history. (10576630)
1999
13
Structure-activity relationship studies of novel heteroretinoids: induction of apoptosis in the HL-60 cell line by a novel isoxazole-containing heteroretinoid. (10585206)
1999
14
Phosphorylation of eukaryotic protein synthesis initiation factor 4E at Ser-209. (7782323)
1995
15
Uroporphyrinogen decarboxylase. (7592567)
1995
16
Pasteurella multocida infection from a cougar bite. A review of cougar attacks. (2660410)
1989
17
Adenocarcinoid tumor, goblet cell type, arising in a ureteroileal conduit: a case report. (6708235)
1984
18
Monoclonal gammopathy (IgM-k) in a patient with Burkitt's type lymphoblastic lymphoma. (6438850)
1984
19
Massive omental reticuloendothelial cell lipid uptake in Tangier disease after splenectomy. (6614036)
1983
20
Fenestrated sheen macular dystrophy. A new autosomal dominant maculopathy. (7315222)
1981
21
Hereditary myokymia; syndrome or disease entity associated with hypoglycemia and disturbed thyroid function. (14943316)
1952

Variations for Laron Dwarfism

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

67 (show all 18)
id Symbol AA change Variation ID SNP ID
1GHRp.Arg89LysVAR_002709
2GHRp.Phe114SerVAR_002710
3GHRp.Val143AlaVAR_002711
4GHRp.Val162AspVAR_002712
5GHRp.Asp170HisVAR_002713
6GHRp.Arg179CysVAR_002714rs121909362
7GHRp.Arg229GlyVAR_002715
8GHRp.Cys440PheVAR_013939rs6182
9GHRp.Cys56SerVAR_018426
10GHRp.Ser58LeuVAR_018427
11GHRp.Trp68ArgVAR_018428
12GHRp.Pro149GlnVAR_018429
13GHRp.Ile171ThrVAR_018431
14GHRp.Gln172ProVAR_018432
15GHRp.Val173GlyVAR_018433
16GHRp.Tyr226CysVAR_018434
17GHRp.Ser244IleVAR_018435
18GHRp.Asp262AsnVAR_018436

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
9GHRNM_000163.4(GHR): c.619-1G> Tsingle nucleotide variantPathogenicrs730880281GRCh38Chr 5, 42711206: 42711206
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 16)
idSuper pathwaysScoreTop Affiliating Genes
19.5IGF1, IGF2
29.5IGF1, IGF2
3
Show member pathways
9.5IGF1, IGF2
49.0GH1, GHR, IGF1
5
Show member pathways
9.0IGF1, IGF2, IGFBP3
69.0IGF1, IGF2, IGFBP3
7
Show member pathways
8.9GH1, IGF1, IGF2
88.6GH1, GHR, STAT5B
9
Show member pathways
8.6GH1, GHR, STAT5B
10
Show member pathways
8.6GH1, GHR, STAT5B
118.6GH1, IGF1, STAT5B
12
Show member pathways
8.5GH1, GHR, IGF1, IGFBP3
13
Show member pathways
8.1GH1, IGF1, IGF2, STAT5B
147.6GH1, GHR, IGF1, IGF2, STAT5B
15
Show member pathways
7.6GH1, GHR, IGF1, IGF2, STAT5B
16
Show member pathways
7.6GH1, GHR, IGF1, IGF2, STAT5B

GO Terms for genes affiliated with Laron Dwarfism

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

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor receptor signaling pathwayGO:004800910.2GHR, IGF1
2positive regulation of glycogen biosynthetic processGO:004572510.1IGF1, IGF2
3negative regulation of neuron deathGO:190121510.1GHR, IGF1
4response to glucocorticoidGO:005138410.1GHR, IGF1
5response to nutrient levelsGO:003166710.0IGF1, IGF2
6cellular response to insulin stimulusGO:003286910.0GHR, IGF1
7positive regulation of JAK-STAT cascadeGO:004642710.0GH1, GHR
8creatinine metabolic processGO:00464499.9GHR, STAT5B
9citrate metabolic processGO:00061019.9GHR, STAT5B
102-oxoglutarate metabolic processGO:00061039.9GHR, STAT5B
11positive regulation of MAPK cascadeGO:00434109.9IGF1, IGFBP3
12succinate metabolic processGO:00061059.9GHR, STAT5B
13taurine metabolic processGO:00195309.9GHR, STAT5B
14platelet degranulationGO:00025769.8IGF1, IGF2
15positive regulation of catalytic activityGO:00430859.6IGF2, IGFBP3
16JAK-STAT cascadeGO:00072599.6GH1, STAT5B
17positive regulation of multicellular organism growthGO:00400189.6GH1, STAT5B
18positive regulation of tyrosine phosphorylation of Stat5 proteinGO:00425239.6GH1, GHR, IGF1
19cellular response to hormone stimulusGO:00328709.5GHR, STAT5B
20positive regulation of smooth muscle cell proliferationGO:00486619.5IGF1, STAT5B
21response to organic cyclic compoundGO:00140709.4IGF1, IGF2
22JAK-STAT cascade involved in growth hormone signaling pathwayGO:00603979.3GH1, GHR, STAT5B
23memoryGO:00076139.2IGF1, IGF2
24regulation of multicellular organism growthGO:00400149.1GHR, IGF1, STAT5B
25cellular protein metabolic processGO:00442679.0IGF1, IGF2, IGFBP3
26positive regulation of peptidyl-tyrosine phosphorylationGO:00507318.8GH1, GHR, IGF1, IGF2
27female pregnancyGO:00075658.8IGF1, IGF2, STAT5B
28positive regulation of cell proliferationGO:00082848.8IGF1, IGF2, STAT5B
29response to estradiolGO:00323558.2GH1, GHR, IGF2, STAT5B

Sources for Laron Dwarfism

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet