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MCID: DWR001
MIFTS: 45

Dwarfism

Categories: Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Dwarfism

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MalaCards integrated aliases for Dwarfism:

Name: Dwarfism 53 55 43 73

Classifications:

MalaCards categories:
Global: Rare diseases
See all MalaCards categories (disease lists)


External Ids:

UMLS 73 C0013336
Sources

Summaries for Dwarfism

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MedlinePlus : 43 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 spondyloepiphyseal dysplasia with congenital joint dislocations, and has symptoms including back pain, muscle cramp and sciatica. 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 : 53 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 : 76 Dwarfism, also known as short stature, occurs when an organism is extremely small. In humans, it is... more...

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Related Diseases for Dwarfism

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

(show top 50) (show all 386)
# Related Disease Score Top Affiliating Genes
1 microcephalic osteodysplastic primordial dwarfism, type i 34.5 PCNT RNU4ATAC
2 spondyloepiphyseal dysplasia with congenital joint dislocations 32.2 FGFR3 RNU4ATAC
3 seckel syndrome 32.1 DNA2 NSMCE2 PCNT RNU4ATAC
4 laron syndrome 32.0 GH1 GHR
5 acromesomelic dysplasia, maroteaux type 31.9 FGFR3 GHR
6 hypochondroplasia 31.7 FGFR3 GHR
7 meier-gorlin syndrome 1 31.7 PCNT RNU4ATAC
8 pituitary hormone deficiency, combined, 2 31.5 GH1 GHR
9 isolated growth hormone deficiency, type ia 31.4 CRIPT DNA2 GH1 PCNT RNU4ATAC
10 isolated growth hormone deficiency, type ib 31.3 GH1 GHRH GHRHR
11 leri-weill dyschondrosteosis 31.1 FGFR3 GHR
12 isolated growth hormone deficiency, type ii 30.4 GH1 GHR GHRH GHRHR
13 isolated growth hormone deficiency 30.3 GH1 GHR GHRH GHRHR
14 gigantism 30.1 GH1 GHRH
15 growth hormone deficiency 29.6 GH1 GHRH GHRHR
16 insulin-like growth factor i 28.9 GH1 GHR GHRH
17 acromegaly 28.7 GH1 GHR GHRH
18 anorexia nervosa 28.2 GH1 GHR GHRH
19 microcephalic osteodysplastic primordial dwarfism, type ii 12.3
20 parastremmatic dwarfism 12.3
21 lenz-majewski hyperostotic dwarfism 12.2
22 keratosis follicularis, dwarfism, and cerebral atrophy 12.1
23 alopecia-contractures-dwarfism mental retardation syndrome 12.1
24 microcephalic primordial dwarfism, toriello type 12.1
25 alopecia-contractures-dwarfism-intellectual disability syndrome 12.1
26 ichthyosis, mental retardation, dwarfism, and renal impairment 12.0
27 alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus 12.0
28 microcephalic osteodysplastic primordial dwarfism, type iii 12.0
29 mesomelic dwarfism cleft palate camptodactyly 11.9
30 trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina 11.9
31 dwarfism, familial, with muscle spasms 11.9
32 tryptophanuria with dwarfism 11.9
33 microcephalic primordial dwarfism, montreal type 11.8
34 geleophysic dwarfism 11.8
35 dwarfism, levi type 11.8
36 megaepiphyseal dwarfism 11.8
37 thanatophoric dysplasia, type i 11.8
38 achondroplasia 11.8
39 seckel syndrome 1 11.8
40 dwarfism with stiff joints and ocular abnormalities 11.7
41 mesomelic dwarfism of hypoplastic tibia and radius type 11.7
42 synovial chondromatosis, familial, with dwarfism 11.7
43 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis 11.7
44 dwarfism, low-birth-weight type, with unresponsiveness to growth hormone 11.7
45 dwarfism, proportionate, with hip dislocation 11.7
46 pituitary dwarfism with large sella turcica 11.7
47 brachydactylous dwarfism mseleni type 11.7
48 thanatophoric dysplasia, type ii 11.7
49 dwarfism with tall vertebrae 11.7
50 dwarfism, mental retardation, and eye abnormality 11.7

Graphical network of the top 20 diseases related to Dwarfism:



Diseases related to Dwarfism
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Symptoms & Phenotypes for Dwarfism

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UMLS symptoms related to Dwarfism:


back pain, muscle cramp, sciatica
Sources

Drugs & Therapeutics for Dwarfism

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

(show top 50) (show all 186)
# 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 Deslorelin Investigational, Vet_approved Phase 4,Phase 2 57773-65-6
4 insulin Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
5 Imatinib Mesylate Phase 4 220127-57-1 123596
6 Mitogens Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1,Not Applicable
7 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
8 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,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 Steroid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
12 Contraceptive Agents Phase 4,Phase 3
13 Growth Hormone-Releasing Hormone Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
14 Estrogen Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
15 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
16 Estrogens Phase 4,Phase 3,Phase 2,Not Applicable
17 Aromatase Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
18 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Not Applicable
19 Triptorelin Pamoate Phase 4
20 Luteolytic Agents Phase 4
21
Zinc Approved, Investigational Phase 2, Phase 3,Phase 3,Not Applicable,Early Phase 1 7440-66-6 23994
22
Clonidine Approved Phase 3 4205-90-7 2803
23 Estradiol valerate Approved, Investigational, Vet_approved Phase 3 979-32-8
24
Benzocaine Approved, Investigational Phase 2, Phase 3,Phase 3,Not Applicable 1994-09-7, 94-09-7 2337
25
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
26
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
27
Medroxyprogesterone acetate Approved, Investigational Phase 3 71-58-9
28
Polyestradiol phosphate Approved Phase 3 28014-46-2
29
Gefitinib Approved, Investigational Phase 2, Phase 3 184475-35-2 123631
30 tannic acid Approved, Nutraceutical Phase 2, Phase 3,Phase 3,Not Applicable
31
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 3 53-43-0 9860744
32
Nicotinamide Approved, Investigational, Nutraceutical Phase 2, Phase 3,Phase 3,Phase 1 98-92-0 936
33
Niacin Approved, Investigational, Nutraceutical Phase 2, Phase 3,Phase 3,Phase 1 59-67-6 938
34
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 1 59-30-3 6037
35 Hypoglycemic Agents Phase 2, Phase 3,Phase 3,Not Applicable,Early Phase 1
36
Medroxyprogesterone Phase 3 520-85-4 10631
37 Analgesics Phase 3,Phase 2,Not Applicable
38 Adjuvants, Immunologic Phase 3
39 Adrenergic Agents Phase 3,Phase 2
40 Micronutrients Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
41 Adrenergic Agonists Phase 3
42 Adrenergic alpha-2 Receptor Agonists Phase 3
43 Adrenergic alpha-Agonists Phase 3
44 Chelating Agents Phase 2, Phase 3
45 Natriuretic Agents Phase 3,Phase 2
46 Natriuretic Peptide, C-Type Phase 3,Phase 2
47 Contraceptive Agents, Male Phase 3
48 Sympatholytics Phase 3
49 Contraceptives, Oral Phase 3
50 Neurotransmitter Agents Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 357)
# 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 Short Stature Related Distress Completed NCT01246219 Phase 4 GH treatment (Genotropin);1 year treatment with placebo followed by optional 3 years of GH treatment
4 Biochemical Markers of Growth Response to Growth Hormone Treatment in Children With Idiopathic Short Stature Completed NCT00458263 Phase 4 Somatotropin growth hormone recombinant human
5 Predictive Markers in Chinese Growth Hormone Deficiency (GHD) Children Treated With Saizen® Completed NCT01187550 Phase 4 Recombinant human growth hormone (r-hGH)
6 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
7 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
8 Long Term Study of Genotropin (Somatropin) for Short Children Born Small for Gestational Age (SGA) Completed NCT01859949 Phase 4 Genotropin (somatropin)
9 Growth Hormone and Endothelial Function in Children Completed NCT00373386 Phase 4 growth hormone
10 Long Term Effect of Somatropin in Subjects With Intrauterine Growth Retardation Completed NCT01734447 Phase 4 somatropin;somatropin;somatropin
11 Safety and Efficacy of SR-hGH (Sustained-release Human Growth Hormone, Declage Inj.) Completed NCT01605331 Phase 4 sustained-release recombinant human GH (SR-rhGH)
12 Effect of Somatropin on Left Ventricular Mass in Growth Hormone Deficient Adult Patients Completed NCT01562834 Phase 4 somatropin;placebo
13 Easypod United States User Trial Completed NCT00689260 Phase 4
14 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
15 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
16 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®)
17 Comparison of Two Growth Hormone Dosing Methods in Adults With Growth Hormone Deficiency Completed NCT00490191 Phase 4 Somatropin
18 Comparison of a Needle-free Injection Method With a Needle-syringe Injection Method Completed NCT00990340 Phase 4
19 Growth Hormone and Glucose Metabolism Completed NCT00929799 Phase 4 recombinant human Growth Hormone (Genotropin® )
20 Liquid Somatropin Formulation in Children With Growth Hormone Deficiency Completed NCT00567385 Phase 4 somatropin
21 IGF1 Generation Test Completed NCT00145457 Phase 4
22 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4 Growth hormone (Genotonorm® or Omnitrope®)
23 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
24 GH and Cardiovascular Risk Factors Completed NCT01877512 Phase 4 Change in daily dosage of Growth Hormone
25 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
26 Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen;Saizen
27 Anterior Pituitary Hormone Replacement in Traumatic Brain Injury Completed NCT00957671 Phase 4 Recombinant human growth hormone
28 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
29 Aromatase Inhibitor Growth Study: Letrozole vs. Anastrozole Recruiting NCT02137538 Phase 4 Letrozole;Anastrozole
30 Extension Study of Pegylated Somatropin to Treat Growth Retardation Caused by Endogenous Growth Hormone Deficiency in Children Recruiting NCT03290235 Phase 4 PEG-somatropin
31 Clinical Study of Pegylated Somatropin to Treat Children Growth Hormone Deficiency Recruiting NCT02908958 Phase 4
32 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency Recruiting NCT03249480 Phase 4
33 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency Recruiting NCT02976675 Phase 4
34 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children (Clinical Trial I) Recruiting NCT02380235 Phase 4
35 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Recruiting NCT03015909 Phase 4 Somatropin
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 The Role of Igf-1 Generation Test in Diagnosis and Treatment of Short Stature Unknown status NCT01970800 Phase 2, Phase 3 Growth Hormone
44 Treatment of Children With Insufficient Secretion of Growth Hormone Unknown status NCT00271518 Phase 3 growth hormone (somatropin)
45 Individualized, Target-Driven Treatment Of Children With Idiopathic Short Stature Completed NCT00396097 Phase 3 Genotropin;Genotropin
46 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
47 Somatropin + Leuprorelin vs Somatropin Alone in Pubertal Children With Idiopathic Short Stature Completed NCT00355030 Phase 3 somatropin;leuprorelin
48 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®
49 Efficacy and Safety of Recombinant Human Growth Hormone on Height Velocity in Subjects With Idiopathic Short Stature Completed NCT01778023 Phase 3 somatropin
50 Efficacy and Safety of DA-3002 in Children With Idiopathic Short Stature Completed NCT01786902 Phase 3 DA-3002

Search NIH Clinical Center for Dwarfism

Inferred drug relations via UMLS 73 / NDF-RT 51 :
Sources

Genetic Tests for Dwarfism

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Sources

Anatomical Context for Dwarfism

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MalaCards organs/tissues related to Dwarfism:

41
Pituitary, Bone, Testes, Kidney, Brain, Thyroid, Heart
Sources

Publications for Dwarfism

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Articles related to Dwarfism:

(show top 50) (show all 720)
# Title Authors Year
1
Dental radiography: Root dwarfism. ( 29326476 )
2018
2
Application of thoracic endovascular aortic repair (TEVAR) in treating dwarfism with Stanford B aortic dissection: A case report. ( 29703033 )
2018
3
Cholesterol accumulation by suppression of SMT1 leads to dwarfism and improved drought tolerance in herbaceous plants. ( 29465802 )
2018
4
Growth Hormone Receptor Mutations Related to Individual Dwarfism. ( 29748515 )
2018
5
High mobility group A2 (HMGA2) deficiency in pigs leads to dwarfism, abnormal fetal resource allocation, and cryptorchidism. ( 29735702 )
2018
6
A Novel Loss-of-Function Variant in Transmembrane Protein 263 (TMEM263) of Autosomal Dwarfism in Chicken. ( 29930570 )
2018
7
Next-generation sequencing from bulked segregant analysis identifies a dwarfism gene in watermelon. ( 29440685 )
2018
8
Genetic diversity and drivers of dwarfism in extinct island emu populations. ( 29618519 )
2018
9
Duck "beak atrophy and dwarfism syndrome" disease complex: Interplay of novel goose parvovirus-related virus and duck circovirus? ( 29341432 )
2018
10
Trabecular bone microarchitecture analysis, a way for an early detection of genetic dwarfism? Case study of a dwarf mother's offspring. ( 29496218 )
2018
11
Pathogenicity of a variant goose parvovirus, from short beak and dwarfism syndrome of Pekin ducks, in goose embryos and goslings. ( 29630396 )
2018
12
Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect. ( 29961235 )
2018
13
Potential molecular mechanisms of overgrazing-induced dwarfism in sheepgrass (Leymus chinensis) analyzed using proteomic data. ( 29739327 )
2018
14
Lenz majewskihyperostotic dwarfism: A Pakistani patient with atypical features. ( 29885186 )
2018
15
Diagnostic Usefulness of Insulin-Like Growth Factor 1 and Insulin-Like Growth Factor Binding Protein 3 in Children with Suspected Pituitary Dwarfism. ( 29739044 )
2018
16
A simple, polymerase chain reaction and restriction fragment length polymorphism-aided diagnosis method for short beak and dwarfism syndrome in ducklings. ( 28533180 )
2017
17
Epigenetic aging signatures in mice livers are slowed by dwarfism, calorie restriction and rapamycin treatment. ( 28351423 )
2017
18
Ectopic expression of GA 2-oxidase 6 from rapeseed (Brassica napus L.) causes dwarfism, late flowering and enhanced chlorophyll accumulation in Arabidopsis thaliana. ( 27886559 )
2017
19
Pregnancy Outcome in Cartilage-Hair Hypoplasia, a Rare Form of Dwarfism. ( 28251002 )
2017
20
Ectopic expression of Arabidopsis FD and FD PARALOGUE in rice results in dwarfism with size reduction of spikelets. ( 28290557 )
2017
21
Genomic and pathogenic analysis of a Muscovy duck parvovirus strain causing short beak and dwarfism syndrome without tongue protrusion. ( 28715672 )
2017
22
Overexpression of<i>Jatropha Gibberellin 2-oxidase 6</i>(<i>JcGA2ox6</i>) Induces Dwarfism and Smaller Leaves, Flowers and Fruits in<i>Arabidopsis</i>and<i>Jatropha</i>. ( 29312375 )
2017
23
Cartilage-Specific and Cre-Dependent Nkx3.2 Overexpression In Vivo Causes Skeletal Dwarfism by Delaying Cartilage Hypertrophy. ( 27253464 )
2017
24
Dwarfism and insulin resistance in male offspring caused by I+1-adrenergic antagonism during pregnancy. ( 29031714 )
2017
25
Midterm Survivorship and Complications of Total Knee Arthroplasty in Patients With Dwarfism. ( 28683980 )
2017
26
The maid of the Bridal Room by Andrea Mantegna (1431-1506) shows evidence of hypopituitary dwarfism and neurofibromatosis type-1. ( 28870556 )
2017
27
Growth and development: Dwarfism linked to hypertension treatment. ( 28731035 )
2017
28
Survivorship and complications of total hip arthroplasty in patients with dwarfism. ( 28497456 )
2017
29
Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review. ( 28409412 )
2017
30
Leadless pacemaker implantation in achondroplastic dwarfism and recurrent cardiac implantable electronic device infections: a case report. ( 29300871 )
2017
31
Dwarfism in homozygous Agc1(CreERT) mice is associated with decreased expression of aggrecan. ( 28921880 )
2017
32
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. ( 28191891 )
2017
33
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
34
Dental Abnormalities in Pituitary Dwarfism: A Case Report and Review of the Literature. ( 28458931 )
2017
35
Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II. ( 28940990 )
2017
36
Thermal experience during embryogenesis contributes to the induction of dwarfism in whitefish Coregonus lavaretus. ( 28945823 )
2017
37
Increased intracellular proteolysis reduces disease severity in an ER stress-associated dwarfism. ( 28920921 )
2017
38
Current insights into the molecular genetic basis of dwarfism in livestock. ( 28697878 )
2017
39
Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency. ( 27169690 )
2016
40
Involvement of Auxin and Brassinosteroid in Dwarfism of Autotetraploid Apple (Malusa88A9a88domestica). ( 27216878 )
2016
41
Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7. ( 27793082 )
2016
42
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. ( 26595769 )
2016
43
Experimental reproduction of beak atrophy and dwarfism syndrome by infection in cherry valley ducklings with a novel goose parvovirus-related parvovirus. ( 26790930 )
2016
44
Tyrosine kinase inhibitor NVP-BGJ398 functionally improves FGFR3-related dwarfism in mouse model. ( 27064282 )
2016
45
Anesthetic management for Cesarean delivery in parturients with a diagnosis of dwarfism. ( 27174298 )
2016
46
Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies. ( 27611897 )
2016
47
Phylogeographic and population genetic analyses reveal multiple species of Boa and independent origins of insular dwarfism. ( 27241629 )
2016
48
A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle. ( 27036302 )
2016
49
Overexpression of CHMP7 from rapeseed and Arabidopsis causes dwarfism and premature senescence in Arabidopsis. ( 27497741 )
2016
50
Chemotherapy dosing in achondroplastic dwarfism: a case report and review of literature. ( 27709641 )
2016
Sources

Variations for Dwarfism

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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
Sources

Expression for Dwarfism

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Search GEO for disease gene expression data for Dwarfism.
Sources

Pathways for Dwarfism

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Pathways related to Dwarfism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Endochondral Ossification 1
10.61 FGFR3 GH1 GHR
2
Growth hormone receptor signaling 66
Show member pathways
 10.57 GH1 GHR
Sources

GO Terms for Dwarfism

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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 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of JAK-STAT cascade GO:0046427 9.52 GH1 GHR
2 response to food GO:0032094 9.51 GHR GHRH
3 hormone metabolic process GO:0042445 9.49 GHR GHRHR
4 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.48 GH1 GHR
5 growth hormone receptor signaling pathway GO:0060396 9.46 GH1 GHR
6 positive regulation of hormone secretion GO:0046887 9.43 GHRH GHRHR
7 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.43 FGFR3 GH1 GHR
8 positive regulation of growth hormone secretion GO:0060124 9.4 GHRH GHRHR
9 adenohypophysis development GO:0021984 9.37 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 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 peptide hormone binding GO:0017046 8.62 GHR GHRHR
Sources

Sources for Dwarfism

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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