MCID: DWR001
MIFTS: 47

Dwarfism

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Dwarfism

MalaCards integrated aliases for Dwarfism:

Name: Dwarfism 54 56 44 74

Classifications:



External Ids:

UMLS 74 C0013336

Summaries for Dwarfism

MedlinePlus : 44 People with dwarfism have short stature. This means that their height is under 4' 10" as an adult. They are usually of normal intelligence. Dwarfism most often does happen in families where both parents are of average height. More than 300 different conditions can cause dwarfism. Achondroplasia is the most common type of dwarfism. Achondroplasia is a genetic condition that affects about 1 in 15,000 to 1 in 40,000 people. It makes your arms and legs short in comparison to your head and trunk. You may also have a larger head and weak muscle tone. Other genetic conditions, kidney disease, and problems with metabolism or hormones can also cause dwarfism. The conditions that cause dwarfism can also cause other health problems. Most of them are treatable. It is important to have regular checkups throughout your life. With proper medical care, most people with dwarfism have active lives and live as long as other people.

MalaCards based summary : Dwarfism is related to microcephalic osteodysplastic primordial dwarfism, type i and laron syndrome, and has symptoms including back pain, sciatica and muscle cramp. An important gene associated with Dwarfism is PCNT (Pericentrin), and among its related pathways/superpathways are Endochondral Ossification and Growth hormone receptor signaling. The drugs Anastrozole and Letrozole have been mentioned in the context of this disorder. Affiliated tissues include pituitary, bone and testes.

NIH Rare Diseases : 54 Dwarfism is a condition that is characterized by short stature, usually resulting in an adult height of 4'10" or shorter. Dwarfism can and most often does occur in families where both parents are of average height. It can be caused by any one of more than 300 conditions, most of which are genetic. The most common type, accounting for 70% of all cases of short stature, is called achondroplasia. Other genetic conditions, kidney disease and problems with metabolism or hormones can also cause short stature. Dwarfism itself is not a disease; however, there is a greater risk of some health problems. With proper medical care, most people with dwarfism have active lives and a normal life expectancy.

Wikipedia : 77 Dwarfism, also known as short stature, occurs when an organism is extremely small. In humans, it is... more...

Related Diseases for Dwarfism

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

(show top 50) (show all 456)
# Related Disease Score Top Affiliating Genes
1 microcephalic osteodysplastic primordial dwarfism, type i 34.3 PCNT RNU4ATAC
2 laron syndrome 32.8 GH1 GHR
3 seckel syndrome 32.7 DNA2 NSMCE2 PCNT RNU4ATAC
4 isolated growth hormone deficiency, type ia 32.5 CRIPT DNA2 GH1 PCNT RNU4ATAC
5 acromesomelic dysplasia, maroteaux type 32.3 FGFR3 GHR
6 meier-gorlin syndrome 1 32.2 PCNT RNU4ATAC
7 spondyloepiphyseal dysplasia with congenital joint dislocations 32.1 FGFR3 RNU4ATAC
8 hypochondroplasia 32.1 FGFR3 GHR
9 pituitary hormone deficiency, combined, 2 32.0 GH1 GHR
10 isolated growth hormone deficiency, type ii 31.6 GH1 GHR GHRH GHRHR
11 leri-weill dyschondrosteosis 31.4 FGFR3 GHR
12 isolated growth hormone deficiency 31.3 GH1 GHR GHRH GHRHR RNU4ATAC
13 isolated growth hormone deficiency, type ib 30.9 GH1 GHR GHRH GHRHR
14 gigantism 30.2 GH1 GHRH
15 growth hormone deficiency 30.2 GH1 GHRH GHRHR
16 insulin-like growth factor i 29.7 GH1 GHR GHRH
17 acromegaly 29.6 GH1 GHR GHRH
18 anorexia nervosa 29.3 GH1 GHR GHRH
19 microcephalic osteodysplastic primordial dwarfism, type ii 12.5
20 parastremmatic dwarfism 12.5
21 lenz-majewski hyperostotic dwarfism 12.4
22 keratosis follicularis, dwarfism, and cerebral atrophy 12.3
23 microcephalic primordial dwarfism, montreal type 12.3
24 alopecia-contractures-dwarfism mental retardation syndrome 12.3
25 ichthyosis, mental retardation, dwarfism, and renal impairment 12.3
26 microcephalic primordial dwarfism, toriello type 12.3
27 alopecia-contractures-dwarfism-intellectual disability syndrome 12.3
28 alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus 12.2
29 microcephalic osteodysplastic primordial dwarfism, type iii 12.2
30 mesomelic dwarfism cleft palate camptodactyly 12.1
31 trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina 12.1
32 dwarfism, familial, with muscle spasms 12.1
33 tryptophanuria with dwarfism 12.1
34 osteoglophonic dysplasia 12.0
35 geleophysic dwarfism 12.0
36 dwarfism, levi type 12.0
37 megaepiphyseal dwarfism 12.0
38 metatropic dysplasia 12.0
39 thanatophoric dysplasia, type i 12.0
40 achondroplasia 12.0
41 seckel syndrome 1 12.0
42 dwarfism with stiff joints and ocular abnormalities 11.9
43 mesomelic dwarfism of hypoplastic tibia and radius type 11.9
44 synovial chondromatosis, familial, with dwarfism 11.9
45 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis 11.9
46 dwarfism, low-birth-weight type, with unresponsiveness to growth hormone 11.9
47 dwarfism, proportionate, with hip dislocation 11.9
48 pituitary dwarfism with large sella turcica 11.9
49 brachydactylous dwarfism mseleni type 11.9
50 diastrophic dysplasia 11.9

Graphical network of the top 20 diseases related to Dwarfism:



Diseases related to Dwarfism

Symptoms & Phenotypes for Dwarfism

UMLS symptoms related to Dwarfism:


back pain, sciatica, muscle cramp

Drugs & Therapeutics for Dwarfism

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

(show top 50) (show all 203)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anastrozole Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 120511-73-1 2187
2
Letrozole Approved, Investigational Phase 4,Phase 3 112809-51-5 3902
3
Tesamorelin Approved, Investigational Phase 4,Phase 2 218949-48-5
4
Mecasermin Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 68562-41-4
5 Deslorelin Investigational, Vet_approved Phase 4,Phase 2 57773-65-6
6 Imatinib Mesylate Phase 4 220127-57-1 123596
7 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
8 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
10 Insulin, Globin Zinc Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
11 Mitogens Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1,Not Applicable
12 insulin Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
13 Estrogen Receptor Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
14 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Not Applicable
15 Steroid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
16 Estrogens Phase 4,Phase 3,Phase 2,Not Applicable
17 Aromatase Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
18 Estrogen Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
19 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
20 Growth Hormone-Releasing Hormone Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
21 Contraceptive Agents Phase 4,Phase 3
22 Triptorelin Pamoate Phase 4
23 Luteolytic Agents Phase 4
24
Zinc Approved, Investigational Phase 2, Phase 3,Phase 3,Not Applicable,Early Phase 1 7440-66-6 32051
25
tannic acid Approved Phase 2, Phase 3,Phase 3,Not Applicable 1401-55-4
26
Benzocaine Approved, Investigational Phase 2, Phase 3,Phase 3,Not Applicable 1994-09-7, 94-09-7 2337
27
Clonidine Approved Phase 3 4205-90-7 2803
28
Medroxyprogesterone acetate Approved, Investigational Phase 3 71-58-9
29
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
30
Polyestradiol phosphate Approved Phase 3 28014-46-2
31
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
32
Mannitol Approved, Investigational Phase 3,Phase 1,Phase 2 69-65-8 6251 453
33
Gefitinib Approved, Investigational Phase 2, Phase 3 184475-35-2 123631
34
Nicotinamide Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 98-92-0 936
35
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 3 53-43-0 9860744
36
Niacin Approved, Investigational, Nutraceutical Phase 2, Phase 3,Phase 3,Phase 1 59-67-6 938
37
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 1 59-30-3 6037
38
Glycine Approved, Nutraceutical, Vet_approved Phase 3 56-40-6 750
39 Hypoglycemic Agents Phase 2, Phase 3,Phase 3,Not Applicable,Early Phase 1
40 Nutrients Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
41 Micronutrients Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
42 Trace Elements Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
43 Chelating Agents Phase 2, Phase 3
44 Immunologic Factors Phase 3,Phase 2,Phase 1
45 Adjuvants, Immunologic Phase 3
46 DHEA (Dehydroepiandrosterone) Phase 3
47 arginine Phase 3,Not Applicable
48 Secretagogues Phase 3
49 Autonomic Agents Phase 3,Phase 2
50 Adrenergic alpha-2 Receptor Agonists Phase 3

Interventional clinical trials:

(show top 50) (show all 373)
# Name Status NCT ID Phase Drugs
1 Assessment Of Gh-Igf-1 Axis In Children With Chronic Myelogenous Leukemia (CML) In Remission Unknown status NCT01901666 Phase 4 Growth Hormone
2 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children Unknown status NCT02314676 Phase 4
3 Clinical Study of Pegylated Somatropin to Treat Children Growth Hormone Deficiency Unknown status NCT02908958 Phase 4
4 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency Unknown status NCT02976675 Phase 4
5 Short Stature Related Distress Completed NCT01246219 Phase 4 GH treatment (Genotropin);1 year treatment with placebo followed by optional 3 years of GH treatment
6 Biochemical Markers of Growth Response to Growth Hormone Treatment in Children With Idiopathic Short Stature Completed NCT00458263 Phase 4 Somatotropin growth hormone recombinant human
7 Predictive Markers in Chinese Growth Hormone Deficiency (GHD) Children Treated With Saizen® Completed NCT01187550 Phase 4 Recombinant human growth hormone (r-hGH)
8 A Multicentre, Randomised, Open-label, Controlled Study to Evaluate the Effects of Saizen® on Cardiac Function in Growth Hormone Deficient(GHD) Subjects During the Transition Phase From Childhood to Adulthood Completed NCT01157793 Phase 4 r-hGH;r-hGH
9 Growth Hormone Treatment for the Prevention of Short Stature in Young Girls With Turner Syndrome Before the Age of 4 Years Completed NCT01066052 Phase 4 r-hGH
10 Long Term Study of Genotropin (Somatropin) for Short Children Born Small for Gestational Age (SGA) Completed NCT01859949 Phase 4 Genotropin (somatropin)
11 Growth Hormone and Endothelial Function in Children Completed NCT00373386 Phase 4 growth hormone
12 Long Term Effect of Somatropin in Subjects With Intrauterine Growth Retardation Completed NCT01734447 Phase 4 somatropin;somatropin;somatropin
13 Safety and Efficacy of SR-hGH (Sustained-release Human Growth Hormone, Declage Inj.) Completed NCT01605331 Phase 4 sustained-release recombinant human GH (SR-rhGH)
14 Effect of Somatropin on Left Ventricular Mass in Growth Hormone Deficient Adult Patients Completed NCT01562834 Phase 4 somatropin;placebo
15 Easypod United States User Trial Completed NCT00689260 Phase 4
16 A Study to Optimize Growth Hormone Dosing in Children With Chronic Kidney Disease by Measuring IGF-1 Levels in Blood Completed NCT00212758 Phase 4 Nutropin AQ
17 A Post-Marketing Study of the Immunogenicity of Somatropin (Ribosomal Deoxyribo Nucleic Acid [rDNA] Origin) Injection (Nutropin AQ®) in Children With Growth Hormone Deficiency Completed NCT02311894 Phase 4 Somatropin
18 An Open-label Phase 4 Study to Explore Immunogenicity of the Liquid Formulation of Saizen® in Subjects With Adult Growth Hormone Deficiency (AGHD) Completed NCT01806298 Phase 4 Saizen® solution for injection (referred as Saizen®)
19 Comparison of Two Growth Hormone Dosing Methods in Adults With Growth Hormone Deficiency Completed NCT00490191 Phase 4 Somatropin
20 Comparison of a Needle-free Injection Method With a Needle-syringe Injection Method Completed NCT00990340 Phase 4
21 Growth Hormone and Glucose Metabolism Completed NCT00929799 Phase 4 recombinant human Growth Hormone (Genotropin® )
22 Liquid Somatropin Formulation in Children With Growth Hormone Deficiency Completed NCT00567385 Phase 4 somatropin
23 IGF1 Generation Test Completed NCT00145457 Phase 4
24 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Completed NCT03015909 Phase 4 Somatropin
25 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
26 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4 Growth hormone (Genotonorm® or Omnitrope®)
27 GH and Cardiovascular Risk Factors Completed NCT01877512 Phase 4 Change in daily dosage of Growth Hormone
28 First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study Completed NCT01419249 Phase 4
29 Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen;Saizen
30 Anterior Pituitary Hormone Replacement in Traumatic Brain Injury Completed NCT00957671 Phase 4 Recombinant human growth hormone
31 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
32 Aromatase Inhibitor Growth Study: Letrozole vs. Anastrozole Recruiting NCT02137538 Phase 4 Letrozole;Anastrozole
33 Extension Study of Pegylated Somatropin to Treat Growth Retardation Caused by Endogenous Growth Hormone Deficiency in Children Recruiting NCT03290235 Phase 4 PEG-somatropin
34 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency Recruiting NCT03249480 Phase 4
35 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children (Clinical Trial I) Recruiting NCT02380235 Phase 4
36 Body Composition and Adipose Tissue in HIV Recruiting NCT03226821 Phase 4 Tesamorelin
37 A 4 Year Combination Therapy of Growth Hormone and (GnRH) Agonist in Children With a Short Predicted Height Active, not recruiting NCT00840944 Phase 4 somatropin;triptorelin
38 A Study to Evaluate the Efficacy of Somatropin in Adults With Growth Hormone Deficiency Caused by Trauma and/or Head Injury Terminated NCT00638053 Phase 4
39 Cardiovascular Effects on Growth Hormone Therapy in Adults With Growth Hormone Deficiency Terminated NCT01698944 Phase 4 somatropin
40 Treatment Of Adult Growth Hormone Deficiency After Traumatic Brain Injury Terminated NCT00555009 Phase 4 Genotropin;Placebo
41 Predictive Value of the Insulin-like Growth Factor-1 (IGF-1) Generation Test for the Growth Response to Growth Hormone Treatment (PRED-IGF) Withdrawn NCT01438801 Phase 4 Nutropin [Somatropin (rDNA origin) for injection]
42 Treatment Of Adult Growth Hormone Deficiency After Traumatic Brain Injury. Withdrawn NCT00432263 Phase 4 Genotropin (PN-180,307) Somatropin
43 Treatment of Children With Insufficient Secretion of Growth Hormone Unknown status NCT00271518 Phase 3 growth hormone (somatropin)
44 Individualized, Target-Driven Treatment Of Children With Idiopathic Short Stature Completed NCT00396097 Phase 3 Genotropin;Genotropin
45 Aromatase Inhibitors, Alone And In Combination With Growth Hormone In Adolescent Boys With Idiopathic Short Stature Completed NCT01248416 Phase 3 Aromatase Inhibitor;Growth Hormone;Aromatase Inhibitor and Growth Hormone
46 Somatropin + Leuprorelin vs Somatropin Alone in Pubertal Children With Idiopathic Short Stature Completed NCT00355030 Phase 3 somatropin;leuprorelin
47 A Phase 3 Study to Evaluate the Safety and Efficacy of Saizen® in Children With Idiopathic Short Stature (ISS) Completed NCT01746862 Phase 3 Saizen®;Saizen®
48 Efficacy and Safety of Recombinant Human Growth Hormone on Height Velocity in Subjects With Idiopathic Short Stature Completed NCT01778023 Phase 3 somatropin
49 Efficacy and Safety of DA-3002 in Children With Idiopathic Short Stature Completed NCT01786902 Phase 3 DA-3002
50 Investigating the Long-term Efficacy and Safety of Two Doses of NN-220 (Somatropin) in Short Stature Due to Noonan Syndrome Completed NCT01927861 Phase 3 somatropin

Search NIH Clinical Center for Dwarfism

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Genetic Tests for Dwarfism

Anatomical Context for Dwarfism

MalaCards organs/tissues related to Dwarfism:

42
Pituitary, Bone, Testes, Kidney, Thyroid, Brain, Heart

Publications for Dwarfism

Articles related to Dwarfism:

(show top 50) (show all 1351)
# Title Authors Year
1
Primary microcephaly, primordial dwarfism and brachydactyly in adult cases with bi-allelic skipping of RTTN exon 42. ( 30927481 )
2019
2
Dynamic Ghrelin and GH serum levels during combined simultaneous arginine clonidine stimulation test in children with dwarfism. ( 30691498 )
2019
3
Robotic surgery in patients with achondroplastic dwarfism: evaluation of risks and issues in an anatomical challenging bilateral partial nephrectomy. ( 30673980 )
2019
4
Correction: Comparative transcriptome analysis provides insights into dwarfism in cherry tomato (Solanum lycopersicum var. cerasiforme). ( 30673784 )
2019
5
Identification and Characterization of a Novel Strigolactone-Insensitive Mutant, Dwarfism with High Tillering Ability 34 (dhta-34) in Rice (Oryza sativa L.). ( 30600409 )
2019
6
Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions. ( 30478443 )
2019
7
Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect. ( 29961235 )
2019
8
Transcriptomic analysis of interstock-induced dwarfism in Sweet Persimmon (Diospyros kaki Thunb.). ( 31069082 )
2019
9
Biallelic variants in DNA2 cause microcephalic primordial dwarfism. ( 31045292 )
2019
10
Analysis of the value and correlation of IGF-1 with GH and IGFBP-3 in the diagnosis of dwarfism. ( 30988753 )
2019
11
ASB20123: A novel C-type natriuretic peptide derivative for treatment of growth failure and dwarfism. ( 30794654 )
2019
12
Comparative transcriptome analysis provides insights into dwarfism in cherry tomato (Solanum lycopersicum var. cerasiforme). ( 30532198 )
2018
13
Schizophrenia in microcephalic osteodysplastic primordial dwarfism type II syndrome: supporting evidence for an association between the PCNT gene and schizophrenia. ( 30531648 )
2018
14
Multiple alleles of ACAN associated with chondrodysplastic dwarfism in Miniature horses. ( 30058072 )
2018
15
A Novel Loss-of-Function Variant in Transmembrane Protein 263 (TMEM263) of Autosomal Dwarfism in Chicken. ( 29930570 )
2018
16
Lenz majewskihyperostotic dwarfism: A Pakistani patient with atypical features. ( 29885186 )
2018
17
Growth Hormone Receptor Mutations Related to Individual Dwarfism. ( 29748515 )
2018
18
Potential molecular mechanisms of overgrazing-induced dwarfism in sheepgrass (Leymus chinensis) analyzed using proteomic data. ( 29739327 )
2018
19
Diagnostic Usefulness of Insulin-Like Growth Factor 1 and Insulin-Like Growth Factor Binding Protein 3 in Children with Suspected Pituitary Dwarfism. ( 29739044 )
2018
20
High mobility group A2 (HMGA2) deficiency in pigs leads to dwarfism, abnormal fetal resource allocation, and cryptorchidism. ( 29735702 )
2018
21
Application of thoracic endovascular aortic repair (TEVAR) in treating dwarfism with Stanford B aortic dissection: A case report. ( 29703033 )
2018
22
Pathogenicity of a variant goose parvovirus, from short beak and dwarfism syndrome of Pekin ducks, in goose embryos and goslings. ( 29630396 )
2018
23
Genetic diversity and drivers of dwarfism in extinct island emu populations. ( 29618519 )
2018
24
Trabecular bone microarchitecture analysis, a way for an early detection of genetic dwarfism? Case study of a dwarf mother's offspring. ( 29496218 )
2018
25
Cholesterol accumulation by suppression of SMT1 leads to dwarfism and improved drought tolerance in herbaceous plants. ( 29465802 )
2018
26
Next-generation sequencing from bulked segregant analysis identifies a dwarfism gene in watermelon. ( 29440685 )
2018
27
Duck "beak atrophy and dwarfism syndrome" disease complex: Interplay of novel goose parvovirus-related virus and duck circovirus? ( 29341432 )
2018
28
Dental radiography: Root dwarfism. ( 29326476 )
2018
29
Leadless pacemaker implantation in achondroplastic dwarfism and recurrent cardiac implantable electronic device infections: a case report. ( 29300871 )
2018
30
Cartilage-Specific and Cre-Dependent Nkx3.2 Overexpression In Vivo Causes Skeletal Dwarfism by Delaying Cartilage Hypertrophy. ( 27253464 )
2017
31
Overexpression of Jatropha Gibberellin 2-oxidase 6 (JcGA2ox6) Induces Dwarfism and Smaller Leaves, Flowers and Fruits in Arabidopsis and Jatropha. ( 29312375 )
2017
32
Dwarfism and insulin resistance in male offspring caused by α1-adrenergic antagonism during pregnancy. ( 29031714 )
2017
33
Thermal experience during embryogenesis contributes to the induction of dwarfism in whitefish Coregonus lavaretus. ( 28945823 )
2017
34
Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II. ( 28940990 )
2017
35
Dwarfism in homozygous Agc1CreERT mice is associated with decreased expression of aggrecan. ( 28921880 )
2017
36
Increased intracellular proteolysis reduces disease severity in an ER stress-associated dwarfism. ( 28920921 )
2017
37
Development of a duplex semi-nested PCR assay for detection of classical goose parvovirus and novel goose parvovirus-related virus in sick or dead ducks with short beak and dwarfism syndrome. ( 28918072 )
2017
38
The maid of the Bridal Room by Andrea Mantegna (1431-1506) shows evidence of hypopituitary dwarfism and neurofibromatosis type-1. ( 28870556 )
2017
39
Growth and development: Dwarfism linked to hypertension treatment. ( 28731035 )
2017
40
Genomic and pathogenic analysis of a Muscovy duck parvovirus strain causing short beak and dwarfism syndrome without tongue protrusion. ( 28715672 )
2017
41
Erratum to: Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review. ( 28712007 )
2017
42
Current insights into the molecular genetic basis of dwarfism in livestock. ( 28697878 )
2017
43
Midterm Survivorship and Complications of Total Knee Arthroplasty in Patients With Dwarfism. ( 28683980 )
2017
44
A simple, polymerase chain reaction and restriction fragment length polymorphism-aided diagnosis method for short beak and dwarfism syndrome in ducklings. ( 28533180 )
2017
45
Survivorship and complications of total hip arthroplasty in patients with dwarfism. ( 28497456 )
2017
46
Dental Abnormalities in Pituitary Dwarfism: A Case Report and Review of the Literature. ( 28458931 )
2017
47
Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review. ( 28409412 )
2017
48
Epigenetic aging signatures in mice livers are slowed by dwarfism, calorie restriction and rapamycin treatment. ( 28351423 )
2017
49
Ectopic expression of Arabidopsis FD and FD PARALOGUE in rice results in dwarfism with size reduction of spikelets. ( 28290557 )
2017
50
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. ( 28191891 )
2017

Variations for Dwarfism

Copy number variations for Dwarfism from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 69817 12 56300000 66000000 Microdeletion HMGA2 Dwarfism
2 69819 12 56300000 66000000 Microdeletion LEMD3 Dwarfism

Expression for Dwarfism

Search GEO for disease gene expression data for Dwarfism.

Pathways for Dwarfism

Pathways related to Dwarfism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.61 FGFR3 GH1 GHR
2
Show member pathways
10.57 GH1 GHR

GO Terms for Dwarfism

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

# Name GO ID Score Top Affiliating Genes
1 growth hormone receptor complex GO:0070195 8.62 GH1 GHR

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of JAK-STAT cascade GO:0046427 9.54 GH1 GHR
2 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.54 FGFR3 GH1 GHR
3 response to food GO:0032094 9.52 GHR GHRH
4 hormone metabolic process GO:0042445 9.51 GHR GHRHR
5 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.49 GH1 GHR
6 growth hormone receptor signaling pathway GO:0060396 9.48 GH1 GHR
7 positive regulation of hormone secretion GO:0046887 9.46 GHRH GHRHR
8 adenohypophysis development GO:0021984 9.43 GHRH GHRHR
9 positive regulation of growth hormone secretion GO:0060124 9.4 GHRH GHRHR
10 growth hormone secretion GO:0030252 9.32 GHRH GHRHR
11 bone maturation GO:0070977 9.16 FGFR3 GH1
12 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.13 GH1 GHRH GHRHR
13 positive regulation of circadian sleep/wake cycle, non-REM sleep GO:0046010 8.96 GHRHR
14 positive regulation of multicellular organism growth GO:0040018 8.92 GH1 GHR GHRH GHRHR

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

# Name GO ID Score Top Affiliating Genes
1 growth factor binding GO:0019838 8.96 GHR GHRHR
2 peptide hormone binding GO:0017046 8.62 GHR GHRHR

Sources for Dwarfism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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