MCID: DWR001
MIFTS: 45

Dwarfism

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

Aliases & Classifications for Dwarfism

MalaCards integrated aliases for Dwarfism:

Name: Dwarfism 53 55 43 72

Classifications:



External Ids:

UMLS 72 C0013336

Summaries for Dwarfism

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 seckel 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 : 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 : 75 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 753)
# Related Disease Score Top Affiliating Genes
1 microcephalic osteodysplastic primordial dwarfism, type i 34.8 RNU4ATAC PCNT
2 seckel syndrome 32.8 RNU4ATAC PCNT NSMCE2 DNA2
3 laron syndrome 32.8 GHR GH1
4 acromesomelic dysplasia, maroteaux type 32.7 GHR FGFR3
5 spondyloepiphyseal dysplasia with congenital joint dislocations 32.5 RNU4ATAC FGFR3
6 hypochondroplasia 32.2 GHR FGFR3
7 isolated growth hormone deficiency, type ia 32.2 RNU4ATAC PCNT GH1 DNA2 CRIPT
8 leri-weill dyschondrosteosis 32.0 GHR FGFR3
9 metaphyseal chondrodysplasia, jansen type 31.9 TRPV4 FGFR3
10 growth hormone deficiency 31.9 GHRHR GHRH GH1
11 pituitary hormone deficiency, combined, 2 31.5 GHR GH1
12 isolated growth hormone deficiency, type ii 31.5 GHRHR GHRH GHR GH1
13 skeletal dysplasias 31.0 TRPV4 FGFR3
14 isolated growth hormone deficiency 31.0 RNU4ATAC GHRHR GHRH GHR GH1
15 isolated growth hormone deficiency, type ib 30.5 GHRHR GHRH GHR GH1
16 gigantism 30.3 GHRH GH1
17 pituitary gland disease 29.7 RNU4ATAC GHRH GH1
18 insulin-like growth factor i 29.6 GHRH GHR GH1
19 acromegaly 29.5 GHRH GHR GH1
20 anorexia nervosa 29.0 GHRH GHR GH1
21 microcephalic osteodysplastic primordial dwarfism, type ii 12.7
22 parastremmatic dwarfism 12.6
23 lenz-majewski hyperostotic dwarfism 12.5
24 keratosis follicularis, dwarfism, and cerebral atrophy 12.5
25 alopecia-contractures-dwarfism mental retardation syndrome 12.4
26 ichthyosis, mental retardation, dwarfism, and renal impairment 12.4
27 alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus 12.4
28 microcephalic osteodysplastic primordial dwarfism, type iii 12.3
29 microcephalic primordial dwarfism, montreal type 12.3
30 dwarfism, levi type 12.3
31 megaepiphyseal dwarfism 12.3
32 microcephalic primordial dwarfism, toriello type 12.3
33 trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina 12.2
34 dwarfism, familial, with muscle spasms 12.2
35 alopecia-contractures-dwarfism-intellectual disability syndrome 12.2
36 dwarfism with stiff joints and ocular abnormalities 12.2
37 mesomelic dwarfism of hypoplastic tibia and radius type 12.2
38 synovial chondromatosis, familial, with dwarfism 12.2
39 tryptophanuria with dwarfism 12.2
40 osteoglophonic dysplasia 12.2
41 thanatophoric dysplasia, type i 12.1
42 geleophysic dwarfism 12.1
43 microcephalic primordial dwarfism-insulin resistance syndrome 12.1
44 dwarfism with tall vertebrae 12.1
45 syndesmodysplasic dwarfism 12.1
46 genital dwarfism 12.1
47 metatropic dysplasia 12.1
48 achondroplasia 12.1
49 seckel syndrome 1 12.1
50 silver-russell syndrome 12.1

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 142)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anastrozole Approved, Investigational Phase 4 120511-73-1 2187
2
Letrozole Approved, Investigational Phase 4 112809-51-5 3902
3
Tesamorelin Approved, Investigational Phase 4 218949-48-5
4 Deslorelin Investigational, Vet_approved Phase 4 57773-65-6
5 Imatinib Mesylate Phase 4 220127-57-1 123596
6 Steroid Synthesis Inhibitors Phase 4
7 Estrogen Receptor Antagonists Phase 4
8 Estrogen Antagonists Phase 4
9 Aromatase Inhibitors Phase 4
10 Antineoplastic Agents, Hormonal Phase 4
11 Contraceptive Agents Phase 4
12 Triptorelin Pamoate Phase 4
13 Luteolytic Agents Phase 4
14
Zinc Approved, Investigational Phase 2, Phase 3 7440-66-6 32051
15
Clonidine Approved Phase 3 4205-90-7 2803
16
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
17
tannic acid Approved Phase 3 1401-55-4
18
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
19
Glycine Approved, Nutraceutical, Vet_approved Phase 3 56-40-6 750
20 Neurotransmitter Agents Phase 3
21 Immunologic Factors Phase 3
22 Antidepressive Agents Phase 3
23 Adrenergic Agents Phase 3
24 Antidepressive Agents, Second-Generation Phase 3
25 Psychotropic Drugs Phase 3
26 Analgesics Phase 3
27 Peripheral Nervous System Agents Phase 3
28 Growth Hormone-Releasing Hormone Phase 3
29 arginine Phase 3
30 Chelating Agents Phase 2, Phase 3
31 Tryptophan Phase 3
32 Adrenergic Agonists Phase 3
33 Adrenergic alpha-Agonists Phase 3
34 Autonomic Agents Phase 3
35 Secretagogues Phase 3
36 Antihypertensive Agents Phase 3
37 Adrenergic alpha-2 Receptor Agonists Phase 3
38 Sympatholytics Phase 3
39 Natriuretic Agents Phase 3
40 Natriuretic Peptide, C-Type Phase 3
41 Pharmaceutical Solutions Phase 3
42 Antibodies Phase 3
43 Immunoglobulins Phase 3
44
Tramadol Approved, Investigational Phase 2 27203-92-5 33741
45
Amitriptyline Approved Phase 2 50-48-6 2160
46
Fluoxetine Approved, Vet_approved Phase 2 54910-89-3 3386
47
Perphenazine Approved Phase 2 58-39-9 4748
48
Oxandrolone Approved, Investigational Phase 2 53-39-4 5878
49
Testosterone enanthate Approved Phase 2 315-37-7 9416
50
Methyltestosterone Approved Phase 2 58-18-4 6010

Interventional clinical trials:

(show top 50) (show all 296)
# 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 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children (Clinical Trial I) Unknown status NCT02380235 Phase 4
3 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency: A Multicenter, Open-label, Phase IV Clinical Trial With Different Administration Dosage of PEG Somatropin Unknown status NCT03249480 Phase 4
4 Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Children Growth Hormone Deficiency: A Multicenter, Randomized, Parallel, Dose-control Clinical Trial II Unknown status NCT02908958 Phase 4
5 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency: A Multicenter, Randomized, Open-label, Parallel Phase IV Clinical Trial With Different Administration Frequency of PEG Somatropin Unknown status NCT02976675 Phase 4
6 ASSESSMENT OF GH-IGF1 AXIS AND TO STUDY RESPONSE TO GH THERAPY IN CHILDREN WITH CML IN REMISSION HAVING GH DEFICIENCY Unknown status NCT01901666 Phase 4 Growth Hormone
7 A Multi-center, Open, Single-arm, Switch-over, Prospective, Phase IV Study to Assess the Ease of Use, Preference, and Safety After 8 Weeks Subcutaneous Administration of EutropinPen Inj. in Patients Pretreated With Recombinant Human Growth Hormone by Reusable Device Completed NCT03015909 Phase 4 Somatropin
8 A Multicentre Study on the Capacity of the IGF-1 Stimulation Test to Predict the Growth Promoting Effect of Standard and High Doses of Genotonorm® in Prepubertal Children With Growth Hormone Deficiency. Completed NCT00145457 Phase 4
9 Safety and Efficacy of SR-hGH (Sustained-release Human Growth Hormone, Declage Inj.) Completed NCT01605331 Phase 4 sustained-release recombinant human GH (SR-rhGH)
10 An Open, Multi-centre Trial Evaluating Acceptance of the New Liquid Growth Hormone Formulation - Norditropin® SimpleXx® in Children With GH Deficiency Completed NCT00567385 Phase 4 somatropin
11 A Phase IV Open-label Study of Predictive Markers in Growth Hormone Deficient Pre-pubertal Children Treated With Saizen® Completed NCT01187550 Phase 4 Recombinant human growth hormone (r-hGH)
12 Long Term Study Of Pnu-180307 For Short Children Born Small For Gestational Age (Sga) Without Epiphyseal Closure (Extension Of The Study 307-met-0021-002) Completed NCT01859949 Phase 4 Genotropin (somatropin)
13 Assessment of the Ease of Use of Norditropin NordiFlex® Relative to the One of the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
14 Open-label, Single-arm, Phase IV, Multicenter Trial to Explore the 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®)
15 A Phase IV Open-label Study of Predictive Markers in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen;Saizen
16 Collaborative Study to Assess the Effects of Treatment With Recombinant Growth Hormone Saizen® in the Prevention of Short Stature in Young Girls Suffering From Turner Syndrome Before the Age of 4 Years. Original French Title: Etude Collaborative Pour apprécier Les Effets du Traitement Par l'Hormone de Croissance Recombinante SAIZEN® Dans le Retard de Croissance de la Fillette Atteinte de Syndrome de Turner Avant l'âge de 4 Ans Completed NCT01066052 Phase 4 r-hGH
17 Growth Hormone and Endothelial Function in Children Completed NCT00373386 Phase 4 growth hormone
18 A Multicentre, Randomised, Open-label, Controlled Study to Evaluate the Effects of Saizen® on Cardiac Function in GHD Subjects During the Transition Phase From Childhood to Adulthood Completed NCT01157793 Phase 4 r-hGH;r-hGH
19 A Randomized, Multicenter, 3 Month Phase IV Study to Evaluate the Effect on Subject Adherence With Injection Schedule by Using the Easypod™ rhGH Delivery Device Completed NCT00689260 Phase 4
20 A Phase IV, Multicenter, Open-Label Study of the Immunogenicity of Nutropin AQ® V1.1 [Somatropin (rDNA Origin) Injection] Administered Daily to Naïve Growth Hormone-Deficient Children (iSTUDY) Completed NCT02311894 Phase 4 Somatropin
21 Study to Compare Injection Anxiety Immediately Before the Administration of Each Dose of Tev-Tropin® Between a Needle-syringe Injection Method and a Needle-free Injection Method in Pediatric Subjects With Human Growth Hormone Deficiency Completed NCT00990340 Phase 4
22 Randomized Cross Over Double Blind Versus Placebo Trial Followed by an Open Phase Studying Effect of Norditropin® on Left Ventricular Mass of Growth Hormone Deficient Adult Patients Completed NCT01562834 Phase 4 somatropin;placebo
23 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4 Growth hormone (Genotonorm® or Omnitrope®)
24 Anterior Pituitary Hormone Replacement in Traumatic Brain Injury Completed NCT00957671 Phase 4 Recombinant human growth hormone
25 Comparison of an Incremental Weight-Based Dose Regimen With an Individualized Dosage Adjusted According to the IGF-I Response in Adults With Growth Hormone Deficiency Completed NCT00490191 Phase 4 Somatropin
26 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
27 Effect of Growth Hormone Replacement Therapy on Cardiovascular Risk Factors in Adult Patients With Severe Growth Hormone Deficiency: Association With IGF-I Concentration Completed NCT01877512 Phase 4 Change in daily dosage of Growth Hormone
28 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
29 The Influence of Growth Hormone (GH) Therapy on Short Stature Related Distress a Prospective Randomized Controlled Trial Completed NCT01246219 Phase 4 GH treatment (Genotropin);1 year treatment with placebo followed by optional 3 years of GH treatment
30 One Arm, Open Study to Assess Biochemical Markers of Growth Response to Growth Hormone Treatment in Children With Idiopathic Short Stature Completed NCT00458263 Phase 4 Somatotropin growth hormone recombinant human
31 Effects of Treatment With Human Growth Hormone on Insulin Resistance and Insulin Secretion in Adults With Growth Hormone Deficiency Completed NCT00929799 Phase 4 recombinant human Growth Hormone (Genotropin® )
32 IGF-1 Generation Test in Children With Chronic Kidney Disease Completed NCT00212758 Phase 4 Nutropin AQ
33 Randomization to Letrozole vs. Anastrozole in Short Pubertal Males Recruiting NCT02137538 Phase 4 Letrozole;Anastrozole
34 The Extension Study of Phase IV Clinical Trial of Pegylated Somatropin (PEG Somatropin) to Treat Growth Retardation Caused by Endogenous Growth Hormone Deficiency in Children Recruiting NCT03290235 Phase 4 PEG-somatropin
35 Body Composition and Adipose Tissue in HIV Lipodystrophy: Effects of Tesamorelin Therapy Recruiting NCT03226821 Phase 4 Tesamorelin
36 Efficacy and Safety of a 4 Year Combination Therapy of Growth Hormone and Gonadotropin- Releasing Hormone Agonist in Children With a Short Predicted Height. Active, not recruiting NCT00840944 Phase 4 somatropin;triptorelin
37 Cardiovascular Effects on Growth Hormone Replacement Therapy in Adults With Primary or Secondary Childhood Onset Growth Hormone Deficiency Terminated NCT01698944 Phase 4 somatropin
38 Placebo Controlled Trial on the Efficacy of Growth Hormone Replacement Therapy in Patients With Growth Hormone Deficiency After Traumatic Brain Injury. Terminated NCT00555009 Phase 4 Genotropin;Placebo
39 Head Trauma With Traumatic Brain Injury (TBI): A Multicenter, Phase IV Study to Evaluate the Effects of Genotropin in Adult Patients With Growth Hormone Deficiency (GHD) Caused by Trauma and/or Head Injury Terminated NCT00638053 Phase 4
40 Placebo-Controlled Trial On The Efficacy Of Growth Hormone Replacement Therapy In Patients With Growth Hormone Deficiency After Traumatic Brain Injury Withdrawn NCT00432263 Phase 4 Genotropin (PN-180,307) Somatropin
41 Predictive Value of Baseline and Stimulated Serum IGF-1 and IGFBP-3 During a Dose-escalation IGF-1 Generation Test for the 1 Year Growth Response to Growth Hormone (GH) Therapy in Short Children With Low IGF-1 and a Normal GH Peak in a Provocation Test Withdrawn NCT01438801 Phase 4 Nutropin [Somatropin (rDNA origin) for injection]
42 A Phase III, Multi-centre, Randomised, Parallel Group Study of Safety and Efficacy of the LB03002 a New Sustained Release Formulation of Human Recombinant Growth Hormone as Compared to Standard Daily Therapy in Treatment Naive Children With Growth Failure Due to Insufficient Secretion of Endogenous Growth Hormone Unknown status NCT00271518 Phase 3 growth hormone (somatropin)
43 Treatment With Recombinant Human Growth Hormone (Genotonorm®) In Children With Short Stature Secondary To A Long Term Corticoid Therapy. A Study of Efficacy and Safety. Completed NCT00174278 Phase 3 Somatropin
44 Somatropin (Norditropin) in Children With Growth Failure Associated With ICF Deficiency. Completed NCT00102817 Phase 3 somatropin
45 Effect of Growth Hormone in Children With Growth Hormone Deficiency and Idiopathic Short Stature Completed NCT00262249 Phase 3 somatropin
46 Usability and Acceptability of Stylomax® in Growth Hormone Deficient Children. Completed NCT00476385 Phase 3 somatropine
47 Phase III Clinical Trial for Assessment of Efficacy and Safety of DA-3002 (Recombinant Human Growth Hormone) in Patients With Turner's Syndrome Completed NCT01813630 Phase 3 DA-3002;Genotropin®
48 Extended Clinical Study of LY137998 [Somatropin (Recombinant DNA Origin)] in Adults With Growth Hormone Deficiency Completed NCT00191360 Phase 3 Somatropin
49 Phase III of the Comparative Study on the Efficacy and Safety of Recombinant Somatropin Administered to Patients With Adult Growth Hormone Deficiency Completed NCT02693522 Phase 3 somatropin;Eutropin
50 Multicenter, Open-Label Study Assessing Dyad (Subject And Caregiver) Perception Of Convenience And Preference Of The Newly Developed Mark VII Injection Pen Completed NCT00965484 Phase 3

Search NIH Clinical Center for Dwarfism

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Growth Hormone
somatrem
Somatropin
SOMATROPIN (RECOMBINANT DNA ORIGIN)

Genetic Tests for Dwarfism

Anatomical Context for Dwarfism

MalaCards organs/tissues related to Dwarfism:

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

Publications for Dwarfism

Articles related to Dwarfism:

(show top 50) (show all 4423)
# Title Authors PMID Year
1
C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia. 17
31269546 2019
2
Endocrine Complications of Noonan Syndrome beyond Short Stature. 17
31115198 2019
3
An Optimal Capillary Screen Cut-off of Thyroid Stimulating Hormone for Diagnosing Congenital Hypothyroidism: Data from a Pilot Newborn Screening Program in Delhi. 17
31064895 2019
4
Gain-of-function mutation in FGFR3 in mice leads to decreased bone mass by affecting both osteoblastogenesis and osteoclastogenesis. 9 38
20053668 2010
5
Total and high molecular weight adiponectin are elevated in patients with Laron syndrome despite marked obesity. 9 38
19755405 2009
6
Identification of a novel splicing mutation in the growth hormone (GH)-releasing hormone receptor gene in a Chinese family with pituitary dwarfism. 9 38
19733620 2009
7
Increased p21 expression in chondrocytes of achondroplasic children independently from the presence of the G380R FGFR3 mutation. 9 38
19802676 2009
8
Dimeric PROP1 binding to diverse palindromic TAAT sequences promotes its transcriptional activity. 9 38
19524124 2009
9
IGF-I replacement therapy in children with congenital IGF-I deficiency (Laron syndrome) maintains heart dimension and function. 9 38
19117781 2009
10
Molecular studies of achondroplasia. 9 38
19838370 2009
11
The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus. 9 38
18996921 2009
12
Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux. 9 38
18945719 2009
13
PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. 9 38
19061984 2008
14
Endothelial function and vascular oxidative stress in long-lived GH/IGF-deficient Ames dwarf mice. 9 38
18757483 2008
15
Insulin-like growth factor-I treatment of children with Laron syndrome (primary growth hormone insensitivity). 9 38
18367997 2008
16
P2Y receptors activated by diadenosine polyphosphates reestablish Ca(2+) transients in achondroplasic chondrocytes. 9 38
18093889 2008
17
Novel splice site mutation in the growth hormone receptor gene in Turkish patients with Laron-type dwarfism. 9 38
18404972 2008
18
The GH-IGF1 axis and longevity. The paradigm of IGF1 deficiency. 9 38
18359741 2008
19
C-natriuretic peptide: an important regulator of cartilage. 9 38
17681481 2007
20
Sustained phosphorylation of mutated FGFR3 is a crucial feature of genetic dwarfism and induces apoptosis in the ATDC5 chondrogenic cell line via PLCgamma-activated STAT1. 9 38
17561467 2007
21
Neutral sphingomyelinase (SMPD3) deficiency causes a novel form of chondrodysplasia and dwarfism that is rescued by Col2A1-driven smpd3 transgene expression. 9 38
17591962 2007
22
Expression of PSACH-associated mutant COMP in tendon fibroblasts leads to increased apoptotic cell death irrespective of the secretory characteristics of mutant COMP. 9 38
17307347 2007
23
Obese adults with primary growth hormone resistance (Laron Syndrome) have normal endothelial function. 9 38
17320443 2007
24
Defining normalcy of the somatotropic axis: an attainable goal? 9 38
17410470 2007
25
Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay. 9 38
17154237 2007
26
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 9 38
16912704 2006
27
Dexamethasone stimulates expression of C-type Natriuretic Peptide in chondrocytes. 9 38
17116261 2006
28
Neutron diffraction studies of fluid bilayers with transmembrane proteins: structural consequences of the achondroplasia mutation. 9 38
16950849 2006
29
Mendelian diseases and conditions in Croatian island populations: historic records and new insights. 9 38
16909451 2006
30
C-type natriuretic peptide in growth: a new paradigm. 9 38
16716628 2006
31
The achondroplasia mutation does not alter the dimerization energetics of the fibroblast growth factor receptor 3 transmembrane domain. 9 38
16634636 2006
32
Aspects of achondroplasia in the skulls of dwarf transgenic mice: a cephalometric study. 9 38
16463380 2006
33
Natriuretic peptides, their receptors, and cyclic guanosine monophosphate-dependent signaling functions. 9 38
16291870 2006
34
Stanniocalcin 1 acts as a paracrine regulator of growth plate chondrogenesis. 9 38
16377640 2006
35
FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association? 9 38
17375526 2006
36
Age-related cataract progression in five mouse models for anti-oxidant protection or hormonal influence. 9 38
16129095 2005
37
Gene disruption of Spred-2 causes dwarfism. 9 38
15946934 2005
38
Sustained ERK1/2 but not STAT1 or 3 activation is required for thanatophoric dysplasia phenotypes in PC12 cells. 9 38
15843401 2005
39
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. 9 38
16121806 2005
40
Cell responses to FGFR3 signalling: growth, differentiation and apoptosis. 9 38
15748888 2005
41
Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations. 9 38
15863034 2005
42
A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies. 9 38
15531542 2004
43
FGF2 inhibits proliferation and alters the cartilage-like phenotype of RCS cells. 9 38
15194433 2004
44
SHOX mutations in a family and a fetus with Langer mesomelic dwarfism. 9 38
15214013 2004
45
Constitutive activation of MEK1 in chondrocytes causes Stat1-independent achondroplasia-like dwarfism and rescues the Fgfr3-deficient mouse phenotype. 9 38
14871928 2004
46
IGF-1 and insulin as growth hormones. 9 38
15562823 2004
47
Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway. 9 38
14702637 2004
48
Insulin-like growth factor-1 rescues the mutated FGF receptor 3 (G380R) expressing ATDC5 cells from apoptosis through phosphatidylinositol 3-kinase and MAPK. 9 38
14606518 2003
49
PTHrP rescues ATDC5 cells from apoptosis induced by FGF receptor 3 mutation. 9 38
12929929 2003
50
Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasia. 9 38
12792737 2003

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 GHR GH1 FGFR3
2
Show member pathways
10.57 GHR GH1

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 TRPV4 GHRHR GHR FGFR3
2 growth hormone receptor complex GO:0070195 8.62 GHR GH1

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 tyrosine phosphorylation of STAT protein GO:0042531 9.58 GHR GH1 FGFR3
2 positive regulation of JAK-STAT cascade GO:0046427 9.55 GHR GH1
3 response to food GO:0032094 9.54 GHRH GHR
4 hormone metabolic process GO:0042445 9.52 GHRHR GHR
5 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.51 GHR GH1
6 growth hormone receptor signaling pathway GO:0060396 9.49 GHR GH1
7 positive regulation of hormone secretion GO:0046887 9.48 GHRHR GHRH
8 positive regulation of growth hormone secretion GO:0060124 9.46 GHRHR GHRH
9 adenohypophysis development GO:0021984 9.43 GHRHR GHRH
10 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.32 TRPV4 GHR
11 bone maturation GO:0070977 9.16 GH1 FGFR3
12 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.13 GHRHR GHRH GH1
13 growth hormone secretion GO:0030252 9.07 GHRH
14 positive regulation of circadian sleep/wake cycle, non-REM sleep GO:0046010 8.96 GHRHR
15 positive regulation of multicellular organism growth GO:0040018 8.92 GHRHR GHRH GHR GH1

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

# Name GO ID Score Top Affiliating Genes
1 growth factor binding GO:0019838 9.16 GHRHR GHR
2 peptide hormone binding GO:0017046 8.96 GHRHR GHR
3 SH2 domain binding GO:0042169 8.62 TRPV4 GHR

Sources for Dwarfism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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