Aliases & Classifications for Dwarfism

Aliases & Descriptions for Dwarfism:

Name: Dwarfism 50 29 52 41 69

Classifications:



Summaries for Dwarfism

NIH Rare Diseases : 50 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

MalaCards based summary : Dwarfism is related to kowarski syndrome and mucopolysaccharidosis type vi, and has symptoms including back pain, muscle cramp and sciatica. An important gene associated with Dwarfism is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are NF-KappaB Family Pathway and PI3K-Akt signaling pathway. The drugs Letrozole and Anastrozole have been mentioned in the context of this disorder. Affiliated tissues include pituitary, kidney and bone.

MedlinePlus : 41 a dwarf is a person of short stature - under 4' 10" as an adult. more than 200 different conditions can cause dwarfism. a single type, called achondroplasia, causes about 70 percent of all 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. 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 live as long as other people.

Wikipedia : 71 Dwarfism, also known as short stature, occurs when an organism is extremely small. In humans, the... more...

Related Diseases for Dwarfism

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

(show top 50) (show all 355)
id Related Disease Score Top Affiliating Genes
1 kowarski syndrome 31.0 GH1 PCNT RNU4ATAC
2 mucopolysaccharidosis type vi 30.4 GH1 GHR IGF1
3 microcephalic osteodysplastic primordial dwarfism, type ii 12.2
4 microcephalic osteodysplastic primordial dwarfism, type i 12.2
5 laron dwarfism 12.1
6 parastremmatic dwarfism 12.1
7 lenz-majewski hyperostotic dwarfism 12.1
8 alopecia-contractures-dwarfism mental retardation syndrome 12.0
9 alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus 11.9
10 langer mesomelic dwarfism 11.7
11 seckel syndrome 11.7
12 geleophysic dwarfism 11.7
13 tryptophanuria with dwarfism 11.7
14 microcephalic primordial dwarfism, toriello type 11.7
15 keratosis follicularis, dwarfism, and cerebral atrophy 11.7
16 ichthyosis, mental retardation, dwarfism, and renal impairment 11.7
17 microcephalic primordial dwarfism, montreal type 11.7
18 achondroplasia 11.7
19 dwarfism levi type 11.7
20 alopecia-contractures-dwarfism-intellectual disability syndrome 11.7
21 megaepiphyseal dwarfism 11.7
22 thanatophoric dysplasia, type i 11.6
23 dwarfism familial with muscle spasms 11.6
24 brachydactylous dwarfism mseleni type 11.6
25 genital dwarfism 11.6
26 pituitary dwarfism with large sella turcica 11.6
27 genital dwarfism, turner type 11.6
28 dwarfism bluish sclerae 11.6
29 dwarfism deafness retinitis pigmentosa 11.6
30 dwarfism lethal type advanced bone age 11.6
31 synovial chondromatosis, familial with dwarfism 11.6
32 dwarfism thin bones multiple fractures 11.6
33 dwarfism, low-birth-weight type with unresponsiveness to growth hormone 11.6
34 trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina 11.6
35 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis 11.6
36 dwarfism, proportionate with hip dislocation 11.6
37 enchondromatosis dwarfism deafness 11.6
38 mesomelic dwarfism cleft palate camptodactyly 11.6
39 mesomelic dwarfism of hypoplastic tibia and radius type 11.6
40 microcephalic primordial dwarfism-insulin resistance syndrome 11.6
41 thanatophoric dysplasia, type ii 11.6
42 robinow syndrome 11.6
43 growth hormone deficiency, isolated, type ia 11.5
44 kniest dysplasia 11.4
45 silver-russell syndrome 11.4
46 diastrophic dysplasia 11.4
47 metatropic dysplasia 11.4
48 osteoglophonic dysplasia 11.4
49 psychosocial short stature 11.4
50 seckel syndrome 1 11.4

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, muscle cramp, sciatica

Drugs & Therapeutics for Dwarfism

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

(show top 50) (show all 184)
id 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 Deslorelin Phase 4,Phase 2
4 insulin Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
5 Triptorelin Pamoate Phase 4
6 Imatinib Mesylate Phase 4 123596
7 Mitogens Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
8 Contraceptive Agents Phase 4,Phase 3
9 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
10 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
11 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
12 Hypoglycemic Agents Phase 4,Phase 2,Phase 3,Early Phase 1
13 Insulin, Globin Zinc Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
14 Luteolytic Agents Phase 4
15 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2
16 Steroid Synthesis Inhibitors Phase 4,Phase 3,Phase 2
17 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1
18 Estrogen Antagonists Phase 4,Phase 3,Phase 2
19 Estrogens Phase 4,Phase 3,Phase 2
20 Aromatase Inhibitors Phase 4,Phase 3,Phase 2
21
Zinc Approved Phase 2, Phase 3, Early Phase 1 7440-66-6 32051 23994
22
Hydrocortisone Approved, Vet_approved Phase 2, Phase 3,Early Phase 1 50-23-7 5754 657311
23
Clonidine Approved Phase 3 4205-90-7 2803
24
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757 53477783
25
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
26
Benzocaine Approved Phase 2, Phase 3 1994-09-7, 94-09-7 2337
27
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
28
Medroxyprogesterone acetate Approved, Investigational Phase 3 71-58-9
29
Gefitinib Approved, Investigational Phase 2, Phase 3 184475-35-2 123631
30
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
31 tannic acid Approved, Nutraceutical Phase 2, Phase 3
32
Dehydroepiandrosterone Approved, Nutraceutical Phase 3 53-43-0 9860744
33
Niacin Approved, Investigational, Nutraceutical Phase 2, Phase 3, Phase 1 59-67-6 938
34
Nicotinamide Approved, Nutraceutical Phase 2, Phase 3, Phase 1 98-92-0 936
35
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 1 59-30-3 6037
36 Cortisol succinate Phase 2, Phase 3,Early Phase 1
37 Anesthetics Phase 2, Phase 3
38 Hydrocortisone 17-butyrate 21-propionate Phase 2, Phase 3,Early Phase 1
39 Hydrocortisone acetate Phase 2, Phase 3,Early Phase 1
40
Medroxyprogesterone Phase 3 520-85-4 10631
41 Estradiol valerate Phase 3 979-32-8
42 Analgesics Phase 3,Phase 2
43 Chelating Agents Phase 2, Phase 3
44 Adjuvants, Immunologic Phase 3
45 Mydriatics Phase 2, Phase 3
46 Adrenergic Agents Phase 3,Phase 2
47 Adrenergic Agonists Phase 3,Phase 2
48 Adrenergic alpha-2 Receptor Agonists Phase 3
49 Adrenergic alpha-Agonists Phase 3,Phase 2
50 Adrenergic beta-Agonists Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 327)
id Name Status NCT ID Phase
1 Study to Examine Insulin Resistance During Growth Hormone Treatment for Short Stature Due to Low Birthweight Unknown status NCT00120497 Phase 4
2 Assessment Of Gh-Igf-1 Axis In Children With Chronic Myelogenous Leukemia (CML) In Remission Unknown status NCT01901666 Phase 4
3 A 4 Year Combination Therapy of Growth Hormone and (GnRH) Agonist in Children With a Short Predicted Height Unknown status NCT00840944 Phase 4
4 Epidemiology Study on Insulin-like Growth Factor-1 in Children With Idiopathic Short Stature (EPIGROW Study) Completed NCT00710307 Phase 4
5 Biochemical Markers of Growth Response to Growth Hormone Treatment in Children With Idiopathic Short Stature Completed NCT00458263 Phase 4
6 Predictive Markers in Chinese Growth Hormone Deficiency (GHD) Children Treated With Saizen® Completed NCT01187550 Phase 4
7 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
8 National Cooperative Growth Study (NCGS) of Optimal Nutropin AQ and Nutropin Dosing in Pubertal Growth Hormone-Deficient (GHD) Patients Completed NCT00097513 Phase 4
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 Long Term Study of Genotropin (Somatropin) for Short Children Born Small for Gestational Age (SGA) Completed NCT01859949 Phase 4
11 Bone Mineral Density (BMD) in Adolescents With Growth Hormone Deficiency (GHD) Completed NCT00097526 Phase 4
12 Growth Hormone and Endothelial Function in Children Completed NCT00373386 Phase 4
13 Long Term Effect of Somatropin in Subjects With Intrauterine Growth Retardation Completed NCT01734447 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
15 Safety and Efficacy of SR-hGH (Sustained-release Human Growth Hormone, Declage Inj.) Completed NCT01605331 Phase 4
16 Effect of Somatropin on Left Ventricular Mass in Growth Hormone Deficient Adult Patients Completed NCT01562834 Phase 4
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 Predictive Markers in GHD and TS Children Treated With SAIZEN® Completed NCT00256126 Phase 4
20 Comparison of Two Growth Hormone Dosing Methods in Adults With Growth Hormone Deficiency Completed NCT00490191 Phase 4
21 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
22 Comparison of a Needle-free Injection Method With a Needle-syringe Injection Method Completed NCT00990340 Phase 4
23 Growth Hormone and Glucose Metabolism Completed NCT00929799 Phase 4
24 Liquid Somatropin Formulation in Children With Growth Hormone Deficiency Completed NCT00567385 Phase 4
25 IGF1 Generation Test Completed NCT00145457 Phase 4
26 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4
27 Effect of 5 Years of GH Replacement on Atherosclerosis Completed NCT00462475 Phase 4
28 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4
29 GH and Cardiovascular Risk Factors Completed NCT01877512 Phase 4
30 Anterior Pituitary Hormone Replacement in Traumatic Brain Injury Completed NCT00957671 Phase 4
31 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
32 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
33 Phase 4 Study in Secondary Hypothyroidism: Body Weight Adapted Thyroxin Treatment and Triiodothyronine Supplementation Completed NCT00360074 Phase 4
34 Short Stature Related Distress Recruiting NCT01246219 Phase 4
35 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children Recruiting NCT02314676 Phase 4
36 Aromatase Inhibitor Growth Study: Letrozole vs. Anastrozole Recruiting NCT02137538 Phase 4
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 NCT02976675 Phase 4
39 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children (Clinical Trial I) Recruiting NCT02380235 Phase 4
40 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Recruiting NCT03015909 Phase 4
41 A Post-Marketing Study of the Immunogenicity of Somatropin (Ribosomal Deoxyribo Nucleic Acid [rDNA] Origin) Injection (Nutropin AQ®) in Children With Growth Hormone Deficiency Active, not recruiting NCT02311894 Phase 4
42 Study to Identify Markers of Insulin Resistance During Growth Hormone Treatment for Short Stature Terminated NCT00121875 Phase 4
43 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
44 Cardiovascular Effects on Growth Hormone Therapy in Adults With Growth Hormone Deficiency Terminated NCT01698944 Phase 4
45 Treatment Of Adult Growth Hormone Deficiency After Traumatic Brain Injury Terminated NCT00555009 Phase 4
46 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
47 Treatment Of Adult Growth Hormone Deficiency After Traumatic Brain Injury. Withdrawn NCT00432263 Phase 4
48 The Role of Igf-1 Generation Test in Diagnosis and Treatment of Short Stature Unknown status NCT01970800 Phase 2, Phase 3
49 A Clinical Study to Assess the Efficacy and Safety of DA-3002 Unknown status NCT01813630 Phase 3
50 Treatment of Children With Insufficient Secretion of Growth Hormone Unknown status NCT00271518 Phase 3

Search NIH Clinical Center for Dwarfism

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Dwarfism

Genetic tests related to Dwarfism:

id Genetic test Affiliating Genes
1 Dwarfism 29

Anatomical Context for Dwarfism

MalaCards organs/tissues related to Dwarfism:

39
Pituitary, Kidney, Bone, Thyroid, Brain, Skin, Testes

Publications for Dwarfism

Articles related to Dwarfism:

(show top 50) (show all 671)
id Title Authors Year
1
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. ( 28191891 )
2017
2
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
3
Pregnancy Outcome in Cartilage-Hair Hypoplasia, a Rare Form of Dwarfism. ( 28251002 )
2017
4
Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review. ( 28409412 )
2017
5
Cartilage-Specific and Cre-Dependent Nkx3.2 Overexpression In Vivo Causes Skeletal Dwarfism by Delaying Cartilage Hypertrophy. ( 27253464 )
2017
6
Nicolas Ferry (1741-1764), the court dwarf of King Stanislas, probably suffered from microcephalic osteodysplastic primordial dwarfism type II (MOPD II). ( 27241249 )
2016
7
Sdt97, a Point Mutation in 5' Untranslated Region, Confers Semi-dwarfism in Rice. ( 27172200 )
2016
8
Overexpression of CHMP7 from rapeseed and Arabidopsis causes dwarfism and premature senescence in Arabidopsis. ( 27497741 )
2016
9
Identification of a novel goose parvovirus (GPV) recombinant associated with short beak and dwarfism syndrome in Mainland China, 2015. ( 27090023 )
2016
10
Partial nephrectomy in a patient with dwarfism. ( 27544562 )
2016
11
Isolation and characterization of a distinct duck-origin goose parvovirus causing an outbreak of duckling short beak and dwarfism syndrome in China. ( 27314945 )
2016
12
Microcephalic osteodysplastic primordial dwarfism type 1. ( 27312855 )
2016
13
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
14
Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1. ( 26641461 )
2016
15
Dwarfism and Altered Craniofacial Development in Rabbits Is Caused by a 12.1 kb Deletion at the HMGA2 Locus. ( 27986804 )
2016
16
Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7. ( 27793082 )
2016
17
Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency. ( 27169690 )
2016
18
A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle. ( 27036302 )
2016
19
Tyrosine kinase inhibitor NVP-BGJ398 functionally improves FGFR3-related dwarfism in mouse model. ( 27064282 )
2016
20
A Novel Two-Step Method for Screening Shade Tolerant Mutant Plants via Dwarfism. ( 27752260 )
2016
21
Complete genome sequence of a new enamovirus from Argentina infecting alfalfa plants showing dwarfism symptoms. ( 27068164 )
2016
22
Epidural anaesthesia for caesarean section in pituitary dwarfism. ( 28012999 )
2016
23
The Agrobacterium rhizogenes oncogenes rolB and ORF13 increase formation of generative shoots and induce dwarfism in Arabidopsis thaliana (L.) Heynh. ( 27717457 )
2016
24
Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation. ( 27232581 )
2016
25
EP10.04: Congenital dwarfism with renal dysplasia: case report. ( 27645547 )
2016
26
Whole-genome sequencing reveals a potential causal mutation for dwarfism in the Miniature Shetland pony. ( 27942904 )
2016
27
A Truncated F-Box Protein Confers the Dwarfism in Cucumber. ( 27090606 )
2016
28
Cuticular Defects in Oryza sativa ATP-binding Cassette Transporter G31 Mutant Plants Cause Dwarfism, Elevated Defense Responses and Pathogen Resistance. ( 27121976 )
2016
29
Elevated Fibroblast Growth Factor Signaling Is Critical for the Pathogenesis of the Dwarfism in Evc2/Limbin Mutant Mice. ( 28027321 )
2016
30
Chemotherapy dosing in achondroplastic dwarfism: a case report and review of literature. ( 27709641 )
2016
31
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. ( 26595769 )
2016
32
Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies. ( 27611897 )
2016
33
Overexpression of SlRBZ Results in Chlorosis and Dwarfism through Impairing Chlorophyll, Carotenoid, and Gibberellin Biosynthesis in Tomato. ( 27446137 )
2016
34
Involvement of Auxin and Brassinosteroid in Dwarfism of Autotetraploid Apple (Malusa88A9a88domestica). ( 27216878 )
2016
35
Phylogeographic and population genetic analyses reveal multiple species of Boa and independent origins of insular dwarfism. ( 27241629 )
2016
36
Identification of goose-origin parvovirus as a cause of newly emerging beak atrophy and dwarfism syndrome in ducklings. ( 27194692 )
2016
37
A brachytic dwarfism trait (dw) in peach trees is caused by a nonsense mutation within the gibberellic acid receptor PpeGID1c. ( 26639453 )
2016
38
Catalytically Active Guanylyl Cyclase-B Requires ER-mediated Glycosylation and Mutations that Inhibit this Process Cause Dwarfism. ( 26980729 )
2016
39
Anesthetic management for Cesarean delivery in parturients with a diagnosis of dwarfism. ( 27174298 )
2016
40
Experimental reproduction of beak atrophy and dwarfism syndrome by infection in cherry valley ducklings with a novel goose parvovirus-related parvovirus. ( 26790930 )
2016
41
Endocrinology and art. Hypertrichosis and dwarfism in a painting of Agostino Carracci (1598-1600). ( 25971690 )
2015
42
Reduced port laparoscopic surgery for colon cancer in a patient with tuberculous kyphosis and dwarfism: a rare case and literature review. ( 26240628 )
2015
43
Primordial dwarfism: an update. ( 25490023 )
2015
44
Two novel POC1A mutations in the Primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations. ( 26374189 )
2015
45
Depiction of differential etiologies of dwarfism by Il Veronese (1528-1588). ( 26462965 )
2015
46
Diversion of carbon flux from gibberellin to steviol biosynthesis by over-expressing SrKA13H induced dwarfism and abnormality in pollen germination and seed set behaviour of transgenic Arabidopsis. ( 25954046 )
2015
47
Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population. ( 26488291 )
2015
48
Mutations in the NHEJ component XRCC4 cause primordial dwarfism. ( 25728776 )
2015
49
Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism. ( 26416026 )
2015
50
Bilateral double level tibial lengthening in dwarfism. ( 26566326 )
2015

Variations for Dwarfism

Copy number variations for Dwarfism from CNVD:

7
id 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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.18 FGFR3 GH1 GHRH IGF1
2 11.99 FGFR3 GH1 GHR IGF1
3 10.95 FGFR3 GH1 GHRH IGF1
4
Show member pathways
10.93 GH1 GHR
5 10.74 FGFR3 GH1 GHR IGF1

GO Terms for Dwarfism

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

id 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 23)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.88 FGFR3 GHRH GHRHR IGF1
2 skeletal system development GO:0001501 9.74 FGFR3 IGF1 SHOX
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.69 GH1 GHR IGF1
4 positive regulation of cAMP biosynthetic process GO:0030819 9.61 GHRH GHRHR
5 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.61 GHRH GHRHR
6 cAMP-mediated signaling GO:0019933 9.6 GHRH GHRHR
7 regulation of multicellular organism growth GO:0040014 9.59 GHR IGF1
8 response to food GO:0032094 9.58 GHR GHRH
9 positive regulation of tyrosine phosphorylation of Stat3 protein GO:0042517 9.58 FGFR3 GH1 GHR
10 positive regulation of JAK-STAT cascade GO:0046427 9.56 GH1 GHR
11 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.55 GH1 GHR
12 insulin-like growth factor receptor signaling pathway GO:0048009 9.54 GHR IGF1
13 positive regulation of hormone secretion GO:0046887 9.52 GHRH GHRHR
14 JAK-STAT cascade GO:0007259 9.5 FGFR3 GH1 GHR
15 adenohypophysis development GO:0021984 9.49 GHRH GHRHR
16 positive regulation of growth hormone secretion GO:0060124 9.48 GHRH GHRHR
17 growth hormone receptor signaling pathway GO:0060396 9.46 GH1 GHR
18 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.46 FGFR3 GH1 GHR IGF1
19 growth hormone secretion GO:0030252 9.43 GHRH GHRHR
20 positive regulation of tyrosine phosphorylation of Stat5 protein GO:0042523 9.43 GH1 GHR IGF1
21 bone maturation GO:0070977 9.37 FGFR3 GH1
22 positive regulation of multicellular organism growth GO:0040018 9.26 GH1 GHR GHRH GHRHR
23 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 8.92 GH1 GHRH GHRHR IGF1

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

id Name GO ID Score Top Affiliating Genes
1 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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