Aliases & Classifications for Dwarfism

MalaCards integrated aliases for Dwarfism:

Name: Dwarfism 49 28 51 40 69

Classifications:



External Ids:

UMLS 69 C0013336

Summaries for Dwarfism

MedlinePlus : 40 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 isolated growth hormone deficiency, type ia, and has symptoms including sciatica, muscle cramp and back pain. An important gene associated with Dwarfism is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are Endochondral Ossification and Growth hormone receptor signaling. The drugs Letrozole and Anastrozole have been mentioned in the context of this disorder. Affiliated tissues include pituitary, bone and testes.

NIH Rare Diseases : 49 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. Last updated: 5/19/2011

Related Diseases for Dwarfism

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

(show top 50) (show all 405)
# Related Disease Score Top Affiliating Genes
1 microcephalic osteodysplastic primordial dwarfism, type i 34.0 PCNT RNU4ATAC
2 isolated growth hormone deficiency, type ia 32.5 GH1 PCNT RNU4ATAC
3 seckel syndrome 32.2 NSMCE2 PCNT PLK4 RNU4ATAC
4 laron syndrome 32.0 GH1 GHR
5 acromesomelic dysplasia, maroteaux type 31.9 FGFR3 GHR
6 meier-gorlin syndrome 1 31.8 PCNT RNU4ATAC
7 acromesomelic dysplasia 31.8 FGFR3 GHR
8 hypochondroplasia 31.8 FGFR3 GHR
9 metaphyseal chondrodysplasia, jansen type 31.6 FGFR3 TRPV4
10 pituitary hormone deficiency, combined, 2 31.5 GH1 GHR
11 isolated growth hormone deficiency, type ii 31.0 GH1 GHR GHRH GHRHR
12 isolated growth hormone deficiency 30.5 GH1 GHR GHRH GHRHR RNU4ATAC
13 isolated growth hormone deficiency, type ib 30.5 GH1 GHR GHRH GHRHR
14 skeletal dysplasias 30.1 FGFR3 TRPV4
15 gigantism 29.9 GH1 GHRH
16 growth hormone deficiency 29.7 GH1 GHRH GHRHR
17 insulin-like growth factor i 29.1 GH1 GHR GHRH
18 acromegaly 29.0 GH1 GHR GHRH
19 bulimia nervosa 2 28.6 GH1 GHR GHRH
20 microcephalic osteodysplastic primordial dwarfism, type ii 12.3
21 parastremmatic dwarfism 12.2
22 lenz-majewski hyperostotic dwarfism 12.2
23 keratosis follicularis, dwarfism, and cerebral atrophy 12.1
24 alopecia-contractures-dwarfism mental retardation syndrome 12.1
25 microcephalic primordial dwarfism, toriello type 12.1
26 alopecia-contractures-dwarfism-intellectual disability syndrome 12.1
27 microcephalic primordial dwarfism, montreal type 12.0
28 ichthyosis, mental retardation, dwarfism, and renal impairment 12.0
29 alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus 12.0
30 microcephalic osteodysplastic primordial dwarfism, type iii 12.0
31 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis 12.0
32 mesomelic dwarfism cleft palate camptodactyly 11.9
33 trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina 11.9
34 dwarfism, familial, with muscle spasms 11.9
35 tryptophanuria with dwarfism 11.9
36 geleophysic dwarfism 11.8
37 dwarfism, levi type 11.8
38 megaepiphyseal dwarfism 11.8
39 seckel syndrome 1 11.7
40 achondroplasia 11.7
41 thanatophoric dysplasia, type i 11.7
42 dwarfism with stiff joints and ocular abnormalities 11.7
43 mesomelic dwarfism of hypoplastic tibia and radius type 11.7
44 synovial chondromatosis, familial, with dwarfism 11.7
45 dwarfism, low-birth-weight type, with unresponsiveness to growth hormone 11.7
46 dwarfism, proportionate, with hip dislocation 11.7
47 pituitary dwarfism with large sella turcica 11.7
48 brachydactylous dwarfism mseleni type 11.7
49 thanatophoric dysplasia, type ii 11.7
50 dwarfism with tall vertebrae 11.7

Graphical network of the top 20 diseases related to Dwarfism:



Diseases related to Dwarfism

Symptoms & Phenotypes for Dwarfism

UMLS symptoms related to Dwarfism:


sciatica, muscle cramp, back pain

Drugs & Therapeutics for Dwarfism

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
Letrozole Approved, Investigational Phase 4,Phase 3 112809-51-5 3902
2
Anastrozole Approved, Investigational Phase 4,Phase 3,Phase 2 120511-73-1 2187
3 insulin Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
4 Mitogens Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
5 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
6 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
8 Hypoglycemic Agents Phase 4,Phase 2,Phase 3,Early Phase 1
9 Imatinib Mesylate Phase 4 123596
10 Insulin, Globin Zinc Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
11 Deslorelin Phase 4,Phase 2
12 Steroid Synthesis Inhibitors Phase 4,Phase 3,Phase 2
13 Contraceptive Agents Phase 4,Phase 3
14 Growth Hormone-Releasing Hormone Phase 4,Phase 3,Phase 2,Phase 1
15 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1
16 Estrogen Antagonists Phase 4,Phase 3,Phase 2
17 Estrogens Phase 4,Phase 3,Phase 2
18 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2
19 Aromatase Inhibitors Phase 4,Phase 3,Phase 2
20 Triptorelin Pamoate Phase 4
21 Luteolytic Agents Phase 4
22
Zinc Approved, Investigational Phase 2, Phase 3, Early Phase 1 7440-66-6 32051 23994
23
Clonidine Approved Phase 3 4205-90-7 2803
24
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
25
Benzocaine Approved, Investigational Phase 2, Phase 3 1994-09-7, 94-09-7 2337
26
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
27
Medroxyprogesterone acetate Approved, Investigational Phase 3 71-58-9
28
Gefitinib Approved, Investigational Phase 2, Phase 3 184475-35-2 123631
29 tannic acid Approved, Nutraceutical Phase 2, Phase 3
30
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 3 53-43-0 9860744
31
Niacin Approved, Investigational, Nutraceutical Phase 2, Phase 3, Phase 1 59-67-6 938
32
Nicotinamide Approved, Investigational, Nutraceutical Phase 2, Phase 3, Phase 1 98-92-0 936
33
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 1 59-30-3 6037
34
Medroxyprogesterone Phase 3 520-85-4 10631
35 Estradiol valerate Phase 3 979-32-8
36 Analgesics Phase 3,Phase 2
37 Adjuvants, Immunologic Phase 3
38 Micronutrients Phase 2, Phase 3, Phase 1
39 Adrenergic Agents Phase 3,Phase 2
40 Adrenergic Agonists Phase 3
41 Adrenergic alpha-2 Receptor Agonists Phase 3
42 Chelating Agents Phase 2, Phase 3
43 Adrenergic alpha-Agonists Phase 3
44 Sympatholytics Phase 3
45 Natriuretic Agents Phase 3,Phase 2
46 Natriuretic Peptide, C-Type Phase 3,Phase 2
47 Neurotransmitter Agents Phase 3,Phase 2
48 Trace Elements Phase 2, Phase 3, Phase 1
49 Contraceptive Agents, Male Phase 3
50 Contraceptives, Oral Phase 3

Interventional clinical trials:

(show top 50) (show all 350)

# Name Status NCT ID Phase Drugs
1 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children Unknown status NCT02314676 Phase 4
2 Assessment Of Gh-Igf-1 Axis In Children With Chronic Myelogenous Leukemia (CML) In Remission Unknown status NCT01901666 Phase 4 Growth Hormone
3 Study to Examine Insulin Resistance During Growth Hormone Treatment for Short Stature Due to Low Birthweight Unknown status NCT00120497 Phase 4 somatropin (rDNA)
4 Short Stature Related Distress Completed NCT01246219 Phase 4 GH treatment (Genotropin);1 year treatment with placebo followed by optional 3 years of GH treatment
5 Epidemiology Study on Insulin-like Growth Factor-1 in Children With Idiopathic Short Stature (EPIGROW Study) Completed NCT00710307 Phase 4
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
10 National Cooperative Growth Study (NCGS) of Optimal Nutropin AQ and Nutropin Dosing in Pubertal Growth Hormone-Deficient (GHD) Patients Completed NCT00097513 Phase 4
11 Long Term Study of Genotropin (Somatropin) for Short Children Born Small for Gestational Age (SGA) Completed NCT01859949 Phase 4 Genotropin (somatropin)
12 Bone Mineral Density (BMD) in Adolescents With Growth Hormone Deficiency (GHD) Completed NCT00097526 Phase 4
13 Growth Hormone and Endothelial Function in Children Completed NCT00373386 Phase 4 growth hormone
14 Long Term Effect of Somatropin in Subjects With Intrauterine Growth Retardation Completed NCT01734447 Phase 4 somatropin;somatropin;somatropin
15 Safety and Efficacy of SR-hGH (Sustained-release Human Growth Hormone, Declage Inj.) Completed NCT01605331 Phase 4 sustained-release recombinant human GH (SR-rhGH)
16 Effect of Somatropin on Left Ventricular Mass in Growth Hormone Deficient Adult Patients Completed NCT01562834 Phase 4 somatropin;placebo
17 Easypod United States User Trial Completed NCT00689260 Phase 4
18 A Post Marketing Surveillance Study for NutropinAq® in Adults With Growth Hormone Deficiency Completed NCT00455884 Phase 4
19 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
20 Predictive Markers in GHD and TS Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen
21 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
22 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®)
23 Comparison of Two Growth Hormone Dosing Methods in Adults With Growth Hormone Deficiency Completed NCT00490191 Phase 4 Somatropin
24 Comparison of a Needle-free Injection Method With a Needle-syringe Injection Method Completed NCT00990340 Phase 4
25 Growth Hormone and Glucose Metabolism Completed NCT00929799 Phase 4 recombinant human Growth Hormone (Genotropin® )
26 Liquid Somatropin Formulation in Children With Growth Hormone Deficiency Completed NCT00567385 Phase 4 somatropin
27 IGF1 Generation Test Completed NCT00145457 Phase 4
28 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
29 GH and Cardiovascular Risk Factors Completed NCT01877512 Phase 4 Change in daily dosage of Growth Hormone
30 Effect of 5 Years of GH Replacement on Atherosclerosis Completed NCT00462475 Phase 4 Recombinant Growth Hormone, Genotropin (Pfizer)
31 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4 Growth hormone (Genotonorm® or Omnitrope®)
32 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
33 Anterior Pituitary Hormone Replacement in Traumatic Brain Injury Completed NCT00957671 Phase 4 Human Growth Hormone;Placebo
34 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
35 Aromatase Inhibitor Growth Study: Letrozole vs. Anastrozole Recruiting NCT02137538 Phase 4 Letrozole;Anastrozole
36 Extension Study of Pegylated Somatropin to Treat Growth Retardation Caused by Endogenous Growth Hormone Deficiency in Children Recruiting NCT03290235 Phase 4 PEG-somatropin
37 Clinical Study of Pegylated Somatropin to Treat Children Growth Hormone Deficiency Recruiting NCT02908958 Phase 4
38 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency Recruiting NCT03249480 Phase 4
39 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency Recruiting NCT02976675 Phase 4
40 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children (Clinical Trial I) Recruiting NCT02380235 Phase 4
41 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Recruiting NCT03015909 Phase 4 Somatropin
42 Body Composition and Adipose Tissue in HIV Recruiting NCT03226821 Phase 4 Tesamorelin
43 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
44 Study to Identify Markers of Insulin Resistance During Growth Hormone Treatment for Short Stature Terminated NCT00121875 Phase 4 somatropin (rDNA)
45 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
46 Cardiovascular Effects on Growth Hormone Therapy in Adults With Growth Hormone Deficiency Terminated NCT01698944 Phase 4 somatropin
47 Treatment Of Adult Growth Hormone Deficiency After Traumatic Brain Injury Terminated NCT00555009 Phase 4 Genotropin;Placebo
48 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]
49 Treatment Of Adult Growth Hormone Deficiency After Traumatic Brain Injury. Withdrawn NCT00432263 Phase 4 Genotropin (PN-180,307) Somatropin
50 The Role of Igf-1 Generation Test in Diagnosis and Treatment of Short Stature Unknown status NCT01970800 Phase 2, Phase 3 Growth Hormone

Search NIH Clinical Center for Dwarfism

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Genetic Tests for Dwarfism

Genetic tests related to Dwarfism:

# Genetic test Affiliating Genes
1 Dwarfism 28

Anatomical Context for Dwarfism

MalaCards organs/tissues related to Dwarfism:

38
Pituitary, Bone, Testes, Kidney, Brain, Thyroid, Heart

Publications for Dwarfism

Articles related to Dwarfism:

(show top 50) (show all 693)
# Title Authors Year
1
Duck "beak atrophy and dwarfism syndrome" disease complex: Interplay of novel goose parvovirus-related virus and duck circovirus? ( 29341432 )
2018
2
Dental radiography: Root dwarfism. ( 29326476 )
2018
3
Next-generation sequencing from bulked segregant analysis identifies a dwarfism gene in watermelon. ( 29440685 )
2018
4
Growth and development: Dwarfism linked to hypertension treatment. ( 28731035 )
2017
5
Ectopic expression of Arabidopsis FD and FD PARALOGUE in rice results in dwarfism with size reduction of spikelets. ( 28290557 )
2017
6
Midterm Survivorship and Complications of Total Knee Arthroplasty in Patients With Dwarfism. ( 28683980 )
2017
7
Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II. ( 28940990 )
2017
8
Dwarfism in homozygous Agc1(CreERT) mice is associated with decreased expression of aggrecan. ( 28921880 )
2017
9
Increased intracellular proteolysis reduces disease severity in an ER stress-associated dwarfism. ( 28920921 )
2017
10
Survivorship and complications of total hip arthroplasty in patients with dwarfism. ( 28497456 )
2017
11
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
12
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
13
Dental Abnormalities in Pituitary Dwarfism: A Case Report and Review of the Literature. ( 28458931 )
2017
14
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
15
Thermal experience during embryogenesis contributes to the induction of dwarfism in whitefish Coregonus lavaretus. ( 28945823 )
2017
16
Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review. ( 28409412 )
2017
17
Genomic and pathogenic analysis of a Muscovy duck parvovirus strain causing short beak and dwarfism syndrome without tongue protrusion. ( 28715672 )
2017
18
A simple, polymerase chain reaction and restriction fragment length polymorphism-aided diagnosis method for short beak and dwarfism syndrome in ducklings. ( 28533180 )
2017
19
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. ( 28191891 )
2017
20
The maid of the Bridal Room by Andrea Mantegna (1431-1506) shows evidence of hypopituitary dwarfism and neurofibromatosis type-1. ( 28870556 )
2017
21
Current insights into the molecular genetic basis of dwarfism in livestock. ( 28697878 )
2017
22
Pregnancy Outcome in Cartilage-Hair Hypoplasia, a Rare Form of Dwarfism. ( 28251002 )
2017
23
Leadless pacemaker implantation in achondroplastic dwarfism and recurrent cardiac implantable electronic device infections: a case report. ( 29300871 )
2017
24
Cartilage-Specific and Cre-Dependent Nkx3.2 Overexpression In Vivo Causes Skeletal Dwarfism by Delaying Cartilage Hypertrophy. ( 27253464 )
2017
25
Dwarfism and insulin resistance in male offspring caused by I+1-adrenergic antagonism during pregnancy. ( 29031714 )
2017
26
Epigenetic aging signatures in mice livers are slowed by dwarfism, calorie restriction and rapamycin treatment. ( 28351423 )
2017
27
The Agrobacterium rhizogenes oncogenes rolB and ORF13 increase formation of generative shoots and induce dwarfism in Arabidopsis thaliana (L.) Heynh. ( 27717457 )
2016
28
Chemotherapy dosing in achondroplastic dwarfism: a case report and review of literature. ( 27709641 )
2016
29
Sdt97, a Point Mutation in 5' Untranslated Region, Confers Semi-dwarfism in Rice. ( 27172200 )
2016
30
Identification of a novel goose parvovirus (GPV) recombinant associated with short beak and dwarfism syndrome in Mainland China, 2015. ( 27090023 )
2016
31
A Novel Two-Step Method for Screening Shade Tolerant Mutant Plants via Dwarfism. ( 27752260 )
2016
32
Effects of recombinant human growth hormone in the treatment of dwarfism and relationship between IGF-1, IGFBP-3 and thyroid hormone. ( 28105090 )
2016
33
Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1. ( 26641461 )
2016
34
Nicolas Ferry (1741-1764), the court dwarf of King Stanislas, probably suffered from microcephalic osteodysplastic primordial dwarfism type II (MOPD II). ( 27241249 )
2016
35
Partial nephrectomy in a patient with dwarfism. ( 27544562 )
2016
36
Involvement of Auxin and Brassinosteroid in Dwarfism of Autotetraploid Apple (Malusa88A9a88domestica). ( 27216878 )
2016
37
Overexpression of SlRBZ Results in Chlorosis and Dwarfism through Impairing Chlorophyll, Carotenoid, and Gibberellin Biosynthesis in Tomato. ( 27446137 )
2016
38
Identification of goose-origin parvovirus as a cause of newly emerging beak atrophy and dwarfism syndrome in ducklings. ( 27194692 )
2016
39
Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1). ( 27591150 )
2016
40
Dwarfism and Altered Craniofacial Development in Rabbits Is Caused by a 12.1 kb Deletion at the HMGA2 Locus. ( 27986804 )
2016
41
Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation. ( 27232581 )
2016
42
Overexpression of CHMP7 from rapeseed and Arabidopsis causes dwarfism and premature senescence in Arabidopsis. ( 27497741 )
2016
43
Cuticular Defects in Oryza sativa ATP-binding Cassette Transporter G31 Mutant Plants Cause Dwarfism, Elevated Defense Responses and Pathogen Resistance. ( 27121976 )
2016
44
Microcephalic osteodysplastic primordial dwarfism type 1. ( 27312855 )
2016
45
Experimental reproduction of beak atrophy and dwarfism syndrome by infection in cherry valley ducklings with a novel goose parvovirus-related parvovirus. ( 26790930 )
2016
46
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. ( 26595769 )
2016
47
Whole-genome sequencing reveals a potential causal mutation for dwarfism in the Miniature Shetland pony. ( 27942904 )
2016
48
EP10.04: Congenital dwarfism with renal dysplasia: case report. ( 27645547 )
2016
49
Tyrosine kinase inhibitor NVP-BGJ398 functionally improves FGFR3-related dwarfism in mouse model. ( 27064282 )
2016
50
Epidural anaesthesia for caesarean section in pituitary dwarfism. ( 28012999 )
2016

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 cell surface GO:0009986 9.26 FGFR3 GHR GHRHR TRPV4
2 growth hormone receptor complex GO:0070195 8.62 GH1 GHR

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cAMP biosynthetic process GO:0030819 9.55 GHRH GHRHR
2 cAMP-mediated signaling GO:0019933 9.54 GHRH GHRHR
3 response to food GO:0032094 9.52 GHR GHRH
4 positive regulation of JAK-STAT cascade GO:0046427 9.51 GH1 GHR
5 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.5 FGFR3 GH1 GHR
6 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.49 GH1 GHR
7 positive regulation of hormone secretion GO:0046887 9.48 GHRH GHRHR
8 positive regulation of growth hormone secretion GO:0060124 9.46 GHRH GHRHR
9 adenohypophysis development GO:0021984 9.43 GHRH GHRHR
10 growth hormone receptor signaling pathway GO:0060396 9.4 GH1 GHR
11 growth hormone secretion GO:0030252 9.37 GHRH GHRHR
12 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.26 GHR TRPV4
13 bone maturation GO:0070977 9.16 FGFR3 GH1
14 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.13 GH1 GHRH GHRHR
15 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 SH2 domain binding GO:0042169 8.96 GHR TRPV4
2 peptide hormone binding GO:0017046 8.62 GHR GHRHR

Sources for Dwarfism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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