MCID: LRN004
MIFTS: 64

Laron Dwarfism malady

Genetic diseases, Rare diseases, Endocrine diseases categories

Summaries for Laron Dwarfism

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NIH Rare Diseases:43 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 obesity, 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:47 Laron syndrome is an autosomal recessive disorder characterized by marked short stature that results from failure to... (262500) more...

Wikipedia:65 Laron syndrome, or Laron-type dwarfism, is an autosomal recessive disorder characterized by an... more...

Aliases & Classifications for Laron Dwarfism

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 10Disease Ontology, 12DISEASES, 45Novoseek, 49Orphanet, 24GTR, 22GeneTests, 57SNOMED-CT, 35MeSH, 62UMLS, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Laron Dwarfism, Aliases & Descriptions:

Name: Laron Dwarfism 47 11 43
Laron Syndrome 47 10 43 12 45 49
Short Stature Due to Growth Hormone Resistance 43 49
Laron-Type Isolated Somatotropin Defect 10 24
Complete Growth Hormone Insensitivity 43 49
Primary Growth Hormone Insensitivity 43 49
Growth Hormone Receptor Deficiency 43 49
Primary Growth Hormone Resistance 43 49
 
Primary Gh Insensitivity 43 49
Gh Receptor Deficiency 43 49
Pituitary Dwarfism Ii 43 22
Primary Gh Resistance 43 49
Laron-Type Dwarfism 43 49
Growth Hormone Insensitivity Syndrome 43
Laron Type Pituitary Dwarfism I 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Endocrine diseases


Characteristics (Orphanet epidemiological data):

49
laron syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM47 262500
Disease Ontology10 DOID:9521
MeSH35 D046150
Orphanet49 633
SNOMED-CT57 38196001
MESH via Orphanet36 D046150
ICD10 via Orphanet28 E34.3
UMLS via Orphanet63 C0271568

Related Diseases for Laron Dwarfism

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

(show top 50)    (show all 63)
idRelated DiseaseScoreTop Affiliating Genes
1dwarfism31.2IGF1, GHR, GH1
2obesity30.5IGF1, GHR, GH1
3growth hormone deficiency30.5IGF1, GHR, GH1
4gigantism30.3GH1, IGF1
5hyperandrogenism30.1GH1, IGF1
6hypothyroidism30.1GH1, GHR, IGF1
7hyperglycemia30.1GH1, GHR, IGF1
8growth hormone insensitivity with immunodeficiency10.2
9isolated growth hormone deficiency10.2
10laron syndrome with immunodeficiency10.2
11syringomyelia10.2
12neurofibromatosis10.2
13chiari malformation10.2
14bell's palsy10.2
15blindness10.2
16short stature due to partial ghr deficiency10.2
17insulin-like growth factor i10.2
18thyroid cancer10.2
19thyroiditis10.2
20spinal stenosis10.1
21michelin tire baby syndrome10.1
22endotheliitis10.1
23rabson-mendenhall syndrome10.0IGF1
24turner syndrome10.0IGF1, GHR
25growth retardation with deafness and mental retardation due to igf1 deficiency10.0IGF1, GHR
26noonan syndrome 110.0IGF1, GHR
27osteoporosis10.0GHR, IGF1
28microvascular complications of diabetes 110.0IGF1, GHR
29insulin-like growth factor 1 resistance to10.0GH1, IGF1
30pituitary gigantism10.0GH1, IGF1
31empty sella syndrome10.0GH1, IGF1
32gonadal disease10.0IGF1, GH1
33idiopathic juvenile osteoporosis10.0IGF1, GH1
34hypothryoidism, congenital, nongoitrous 410.0GH1, IGF1
35pituitary gland disease10.0IGF1, GH1
36craniopharyngioma10.0GH1, IGF1
37hyperprolactinemia10.0GH1, IGF1
38fibrous dysplasia10.0GH1, GHR
39prader-willi syndrome10.0GH1, IGF1
40adrenal gland hyperfunction10.0GHR, GH1
41prolactinoma10.0IGF1, GH1
42osteosarcoma, somatic10.0GHR, IGF1
43cushing's syndrome10.0GH1, IGF1
44hypogonadism10.0GH1, IGF1
45glucose intolerance10.0IGF1, GH1
46chronic kidney failure10.0GHR, IGF1
47polycystic ovary syndrome10.0GH1, IGF1
48insulinoma10.0GHR, GH1
49prostate cancer10.0IGF1, GHR
50pituitary hormone deficiency, combined, 210.0GH1, GHR, 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:

 49 (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 Ii22 GHR
2 Laron-Type Isolated Somatotropin Defect24

Anatomical Context for Laron Dwarfism

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MalaCards organs/tissues related to Laron Dwarfism:

33
Pituitary, Bone, Eye, Skin, Thyroid

Animal Models for Laron Dwarfism or affiliated genes

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MGI Mouse Phenotypes related to Laron Dwarfism:

37
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)
idTitleAuthorsYear
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
Laron dwarfism in the Arabian Gulf: a report of a sibship. (7505559)
1993
5
Lack of hormone binding in COS-7 cells expressing a mutated growth hormone receptor found in Laron dwarfism. (8450064)
1993
6
Laron dwarfism. (1670793)
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
Effects of the infusion of insulin-like growth factor I in a child with growth hormone insensitivity syndrome (Laron dwarfism). (2023608)
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
A child with phenotypic Laron dwarfism and normal somatomedin levels. (2913494)
1989
13
Laron dwarfism and mutations of the growth hormone-receptor gene. (2779634)
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
Fractionation studies on plasma of normals and patients with Laron dwarfism and hypopituitary gigantism. (4762432)
1973

Variations for Laron Dwarfism

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

64 (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:

7 (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/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1GH1, IGF1
2
Show member pathways
9.1GH1, IGF1
39.1GH1, IGF1
4
Show member pathways
9.1IGF1, GH1
5
Show member pathways
9.0GH1, GHR
6
Show member pathways
9.0GH1, GHR
7
Show member pathways
9.0GH1, GHR
8
Show member pathways
Type III interferon signaling38
9.0GH1, GHR
99.0GH1, GHR
10
Show member pathways
8.5IGF1, GHR, GH1
118.5IGF1, GHR, GH1
12
Show member pathways
8.5GH1, GHR, IGF1
138.5GH1, GHR, IGF1
14
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/GeneDecks:

(show top 50)    (show all 65)
idCompoundScoreTop Affiliating Genes
1somatuline459.5GH1, IGF1
2quinagolide459.5IGF1, GH1
3oxandrolone45 1310.5GH1, IGF1
4pyridostigmine45 1310.5IGF1, GH1
5acipimox45 3010.5GH1, IGF1
6pirenzepine45 30 1311.5GH1, IGF1
7clomiphene citrate459.5IGF1, GH1
8naltrexone45 30 51 1312.5GH1, IGF1
9cortisone45 2610.4GH1, IGF1
10pyridinoline459.4GH1, IGF1
11deoxypyridinoline459.4GH1, IGF1
12alendronate45 51 1311.4IGF1, GH1
13raloxifene45 51 30 1312.2IGF1, GH1
14l-nmma459.1IGF1, GH1
15dhea459.1GH1, IGF1
16ghrp459.0GH1, GHR, IGF1
17hexarelin45 3010.0GH1, GHR, IGF1
18pegvisomant45 1310.0IGF1, GHR, GH1
19leuprolide acetate459.0GH1, GHR, IGF1
20lanreotide45 3010.0GH1, GHR, IGF1
21cabergoline45 30 1310.9IGF1, GHR, GH1
22bromocriptine45 30 1310.9GH1, GHR, IGF1
23dehydroepiandrosterone sulfate458.9GH1, GHR, IGF1
24clonidine45 51 30 1311.9IGF1, GHR, GH1
25octreotide45 61 30 1311.9GH1, GHR, IGF1
26c-peptide458.9GH1, GHR, IGF1
27procollagen458.9IGF1, GHR, GH1
28triiodothyronine458.9GH1, GHR, IGF1
29androstenedione45 269.9GH1, GHR, IGF1
30levodopa45 139.9IGF1, GHR, GH1
31dihydrotestosterone45 30 26 1311.9GH1, GHR, IGF1
32thyroxine45 269.9GH1, GHR, IGF1
33acth458.9GH1, GHR, IGF1
34calcitriol45 61 26 1311.9IGF1, GHR, GH1
35gnrh458.9GH1, GHR, IGF1
36ribonucleic acid458.9IGF1, GHR, GH1
37tamoxifen45 51 30 1311.9GH1, GHR, IGF1
38vitamin d458.9GH1, GHR, IGF1
39estradiol45 26 1310.9GH1, GHR, IGF1
40glutamine458.8GH1, GHR, IGF1
41metformin45 51 1310.8GH1, IGF1
42dopamine45 30 26 1311.8IGF1, GHR, GH1
43thymidine45 269.8GH1, GHR, IGF1
44creatinine458.8IGF1, GHR, GH1
45cycloheximide458.7GH1, GHR, IGF1
46progesterone45 30 61 26 1312.7GH1, GHR, IGF1
47testosterone45 61 26 1311.7GH1, GHR, IGF1
48steroid458.7IGF1, GHR, GH1
49dexamethasone45 51 30 1311.6GH1, GHR, IGF1
50arginine458.4GH1, GHR, IGF1

GO Terms for genes affiliated with Laron Dwarfism

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Cellular components related to Laron Dwarfism according to GeneCards/GeneDecks:

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/GeneDecks:

(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/GeneDecks:

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

Products for genes affiliated with Laron Dwarfism

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Sources for Laron Dwarfism

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet