MCID: DWR001
MIFTS: 44

Dwarfism

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

Aliases & Classifications for Dwarfism

MalaCards integrated aliases for Dwarfism:

Name: Dwarfism 20 54 6 42 70

Classifications:



External Ids:

UMLS 70 C0013336

Summaries for Dwarfism

MedlinePlus : 42 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 ii and seckel syndrome 2, 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 eye.

GARD : 20 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 : 73 Dwarfism occurs when an organism is extremely small. In humans, it is sometimes defined as an adult... more...

Related Diseases for Dwarfism

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

(show top 50) (show all 728)
# Related Disease Score Top Affiliating Genes
1 microcephalic osteodysplastic primordial dwarfism, type ii 32.8 RNU4ATAC PCNT
2 seckel syndrome 2 32.0 PCNT DNA2
3 laron syndrome 31.9 GHRHR GHR GH1
4 seckel syndrome 31.9 RNU4ATAC PCNT NSMCE2 DNA2
5 isolated growth hormone deficiency, type ii 31.8 GHRHR GHRH GH1
6 isolated growth hormone deficiency, type iv 31.7 GHRHR GH1
7 isolated growth hormone deficiency, type ib 31.5 GHRHR GHRH GH1
8 isolated growth hormone deficiency, type ia 31.3 RNU4ATAC PCNT NSMCE2 GH1 DNA2 CRIPT
9 growth hormone deficiency 31.3 GHRHR GHRH GH1
10 spondyloepiphyseal dysplasia with congenital joint dislocations 31.3 TRPV4 RNU4ATAC FGFR3
11 pituitary hormone deficiency, combined, 2 31.1 GHRHR GHRH GHR GH1
12 isolated growth hormone deficiency type iii 31.0 GHRHR GHRH GH1
13 osteochondrodysplasia 30.2 TRPV4 RNU4ATAC PCNT FGFR3 DYM
14 pituitary hypoplasia 30.1 GHRHR GH1
15 microcephaly 30.1 RNU4ATAC PCNT NSMCE2 FGFR3 DYM DNA2
16 gigantism 30.0 GHRH GH1
17 insulin-like growth factor i 29.8 GHRH GHR GH1
18 septooptic dysplasia 29.7 GHRHR GHRH GH1
19 scoliosis 29.6 TRPV4 GHR GH1 FGFR3
20 brachydactyly 29.6 TRPV4 RNU4ATAC FGFR3
21 isolated growth hormone deficiency 29.5 RNU4ATAC PCNT NSMCE2 GHRHR GHRH GHR
22 acromegaly 29.5 GHRHR GHRH GHR GH1
23 hypopituitarism 29.4 RNU4ATAC GHRHR GHRH GHR GH1
24 spondyloepimetaphyseal dysplasia 29.3 TRPV4 RNU4ATAC DYM
25 anorexia nervosa 29.2 GHRH GHR GH1
26 pituitary gland disease 28.7 RNU4ATAC GHRHR GHRH GHR GH1
27 microcephalic osteodysplastic primordial dwarfism, type i 11.7
28 parastremmatic dwarfism 11.6
29 lenz-majewski hyperostotic dwarfism 11.5
30 osteoglophonic dysplasia 11.5
31 metatropic dysplasia 11.5
32 thanatophoric dysplasia, type i 11.5
33 achondroplasia 11.4
34 seckel syndrome 1 11.4
35 oliver-mcfarlane syndrome 11.4
36 silver-russell syndrome 1 11.4
37 diastrophic dysplasia 11.4
38 thanatophoric dysplasia, type ii 11.3
39 kniest dysplasia 11.3
40 robinow syndrome 11.3
41 geleophysic dysplasia 11.3
42 dyssegmental dysplasia, silverman-handmaker type 11.3
43 peters-plus syndrome 11.3
44 dyssegmental dysplasia, rolland-desbuquois type 11.3
45 three m syndrome 1 11.3
46 keratosis follicularis, dwarfism, and cerebral atrophy 11.3
47 alopecia-contractures-dwarfism mental retardation syndrome 11.3
48 alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus 11.3
49 boomerang dysplasia 11.3
50 acromesomelic dysplasia, hunter-thompson type 11.3

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 103)
# 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
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
4
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
5 Estrogen Antagonists Phase 4
6 Estrogen Receptor Antagonists Phase 4
7 Aromatase Inhibitors Phase 4
8 Imatinib Mesylate Phase 4 220127-57-1 123596
9 Anesthetics Phase 4
10 Anesthetics, Local Phase 4
11 Antineoplastic Agents, Hormonal Phase 4
12 Contraceptive Agents Phase 4
13 Triptorelin Pamoate Phase 4
14
Zinc Approved, Investigational Phase 2, Phase 3 7440-66-6 32051
15
Leuprolide Approved, Investigational Phase 3 53714-56-0 3911 657181
16
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
17
Clonidine Approved Phase 3 4205-90-7 2803
18
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
19
tannic acid Approved Phase 3 1401-55-4
20
Glycine Approved, Nutraceutical, Vet_approved Phase 3 56-40-6 750
21 Chelating Agents Phase 2, Phase 3
22 Growth Hormone-Releasing Hormone Phase 3
23 Hypoglycemic Agents Phase 3
24 Estrogens Phase 3
25 Pharmaceutical Solutions Phase 3
26 Neurotransmitter Agents Phase 3
27 Analgesics Phase 3
28 Adrenergic alpha-Agonists Phase 3
29 Adrenergic Agonists Phase 3
30 Adrenergic Agents Phase 3
31 Antihypertensive Agents Phase 3
32 Sympatholytics Phase 3
33 Immunoglobulins Phase 3
34 Antibodies Phase 3
35
Arginine Investigational, Nutraceutical Phase 3 74-79-3 6322
36
Oxandrolone Approved, Investigational Phase 2 53-39-4 5878
37
mometasone furoate Approved, Investigational, Vet_approved Phase 2 83919-23-7
38
Nicotinamide Approved, Investigational Phase 1, Phase 2 98-92-0 936
39
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
40
Folic acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
41
Niacin Approved, Investigational, Nutraceutical Phase 1, Phase 2 59-67-6 938
42
Deslorelin Investigational, Vet_approved Phase 2 57773-65-6
43 Prolactin Release-Inhibiting Factors Phase 2
44 Anabolic Agents Phase 2
45 Androgens Phase 2
46 N-(2-aminoethyl)-5-isoquinolinesulfonamide Phase 2
47 Natriuretic Peptide, C-Type Phase 2
48 Hormone Antagonists Phase 2
49 Secretagogues Phase 2
50 Nutrients Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 218)
# 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 Randomization to Letrozole vs. Anastrozole in Short Pubertal Males Unknown status NCT02137538 Phase 4 Letrozole;Anastrozole
3 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
4 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children (Clinical Trial I) Unknown status NCT02380235 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 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
7 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
8 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)
9 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
10 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
11 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
12 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
13 Growth Hormone and Endothelial Function in Children Completed NCT00373386 Phase 4 growth hormone
14 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
15 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)
16 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
17 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
18 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® )
19 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
20 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
21 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
22 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®)
23 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
24 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
25 Effect of Height Versus Height and Weight Based Intrathecal Bupivacaine Dose on Maternal Haemodynamics for Elective Caesarean Section in Short Stature Patients: A Randomized Trial Recruiting NCT04082676 Phase 4 Hyperbaric bupivacaine spinal;Hyperbaric bupivacaine spinal
26 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
27 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
28 Cardiovascular Effects on Growth Hormone Replacement Therapy in Adults With Primary or Secondary Childhood Onset Growth Hormone Deficiency Terminated NCT01698944 Phase 4 somatropin
29 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
30 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]
31 Effect of Growth Hormone in Children With Growth Hormone Deficiency and Idiopathic Short Stature Completed NCT00262249 Phase 3 somatropin
32 Somatropin (Norditropin) in Children With Growth Failure Associated With ICF Deficiency. Completed NCT00102817 Phase 3 somatropin
33 A Phase IIIb, Prospective, Multicenter, Randomized, Open-label Study to Determine the Safety and Efficacy of Two Different Dosing Regimens of Saizen® (Recombinant Human Growth Hormone (r-hGH), Using Cool.Click™ in Subjects With Childhood-onset Growth Hormone Deficiency During the Adolescent Transition Phase (CATS) Completed NCT00109733 Phase 3
34 A Randomized, Open-label, Two-arm Parallel Group, No Treatment Group-controlled, Multicenter Phase III Study to Evaluate the Safety and Efficacy of Saizen® 0.067 mg/kg/Day Subcutaneous Injection in Children With Idiopathic Short Stature Completed NCT01746862 Phase 3 Saizen®;Saizen®
35 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
36 A Randomized Controlled Trial Of The Use Of 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
37 Effect of Weekly Zinc Chelate Supplementation on Schoolchildren's Growth: a Randomized Double-blind Controlled Trial Completed NCT01911260 Phase 2, Phase 3
38 Individualizing the Dose of Growth Hormone (GH) to Maintain Normal Growth Velocity After Fulfilled Catch up Growth in Children Within TR 98-0198-003 Completed NCT02879747 Phase 2, Phase 3 Genotropin
39 A 52-week, Multi-centre, Randomised, Double-blind, Parallel-group, no Treatment Controlled (Open-label) Trial Investigating the Efficacy and Safety of Two Doses of NN-220 in Short Stature With Noonan Syndrome Completed NCT01927861 Phase 3 somatropin
40 Phase IIIB, International, Single Group, Open Study to Define an Optimal Monitoring of IGF-1 in Children Treated With NutropinAq, Using a Novel Capillary Blood Collection Method Completed NCT00234533 Phase 3 Somatropin (rDNA origin)
41 A 12-month, Open-labelled, Randomised, Parallel-group, Multi-centre, Interventional Trial to Evaluate the Efficacy and Safety of Recombinant Human Growth Hormone (hGH) (Norditropin® Nordilet®) Therapy on Height Velocity (Ht-V) in Patients With Idiopathic Short Stature in Korea Completed NCT01778023 Phase 3 somatropin
42 Efficacy and Safety of Somatropin in Combination With Leuprorelin Compared to Somatropin Alone in Pubertal Children With Idiopathic Short Stature Completed NCT00355030 Phase 3 somatropin;leuprorelin
43 A Four Year Open Label Multi Center Randomized Two Arm Study Of Genotropin In Idiopathic Short Stature Patients: Comparing An Individualized, Target Driven Treatment Regimen To Standard Dosing Of Genotropin Completed NCT00396097 Phase 3 Genotropin;Genotropin
44 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
45 Phase III Study of Humatrope in Non-Growth Hormone Deficient Children With Short Stature Completed NCT00191074 Phase 3 somatropin, rDNA origin, for injection
46 Recombinant Human Insulin-Like Growth Factor (rhIGF-1) Treatment of Short Stature Associated With Primary IGF-1 Deficiency: A Multi-Center, Open Label, Concentration-Controlled Study Completed NCT00125190 Phase 2, Phase 3 rhIGF-1 (mecasermin) for a period of 86 weeks
47 Open, Multi-Center, Controlled, Randomized Phase III Clinical Trial to Evaluate the Efficacy and Safety of DA-3002(Recombinant Humn Growth Hormone)Treatment in Children With Idiopathic Short Stature Completed NCT01786902 Phase 3 DA-3002
48 A Multicenter, Phase 3, Randomized, Open-label, Active-controlled, Parallel-group Trial Investigating the Safety, Tolerability, and Efficacy of TransCon hGH Administered Once a Week Versus Standard Daily hGH Replacement Therapy Over 52 Weeks in Prepubertal Children With Growth Hormone Deficiency (GHD) Completed NCT02781727 Phase 3 Once weekly subcutaneous injection of TransCon hGH;Once daily subcutaneous injection of Genotropin
49 Investigation of the Efficacy and Safety of NN-220 for 24 Weeks in Adults With Growth Hormone Deficiency Completed NCT00519558 Phase 3 somatropin
50 An Open, Multi-Centre Trial Evaluating Acceptance of the New Liquid Growth Hormone Formulation - Norditropin Simplexx™ in Children With GH Deficiency Completed NCT01563926 Phase 3 somatropin

Search NIH Clinical Center for Dwarfism

Inferred drug relations via UMLS 70 / 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:

40
Pituitary, Bone, Eye, Skin, Endothelial, Brain, Thyroid

Publications for Dwarfism

Articles related to Dwarfism:

(show top 50) (show all 4659)
# Title Authors PMID Year
1
A new domestic cat genome assembly based on long sequence reads empowers feline genomic medicine and identifies a novel gene for dwarfism. 42 61
33090996 2020
2
Review of economic analysis of available interventions on idiopathic short stature: A protocol for systematic review and meta-analysis. 42
33607861 2021
3
Short stature with precocious puberty caused by aggrecan gene mutation: A case report. 42
32846772 2020
4
Gain-of-function mutation in FGFR3 in mice leads to decreased bone mass by affecting both osteoblastogenesis and osteoclastogenesis. 61 54
20053668 2010
5
Total and high molecular weight adiponectin are elevated in patients with Laron syndrome despite marked obesity. 61 54
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. 61 54
19733620 2009
7
Increased p21 expression in chondrocytes of achondroplasic children independently from the presence of the G380R FGFR3 mutation. 61 54
19802676 2009
8
Dimeric PROP1 binding to diverse palindromic TAAT sequences promotes its transcriptional activity. 61 54
19524124 2009
9
IGF-I replacement therapy in children with congenital IGF-I deficiency (Laron syndrome) maintains heart dimension and function. 61 54
19117781 2009
10
Molecular studies of achondroplasia. 54 61
19838370 2009
11
The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus. 61 54
18996921 2009
12
Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux. 54 61
18945719 2009
13
PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. 61 54
19061984 2008
14
Endothelial function and vascular oxidative stress in long-lived GH/IGF-deficient Ames dwarf mice. 61 54
18757483 2008
15
Insulin-like growth factor-I treatment of children with Laron syndrome (primary growth hormone insensitivity). 61 54
18367997 2008
16
P2Y receptors activated by diadenosine polyphosphates reestablish Ca(2+) transients in achondroplasic chondrocytes. 61 54
18093889 2008
17
Novel splice site mutation in the growth hormone receptor gene in Turkish patients with Laron-type dwarfism. 54 61
18404972 2008
18
The GH-IGF1 axis and longevity. The paradigm of IGF1 deficiency. 54 61
18359741 2008
19
C-natriuretic peptide: an important regulator of cartilage. 61 54
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. 61 54
17561467 2007
21
Neutral sphingomyelinase (SMPD3) deficiency causes a novel form of chondrodysplasia and dwarfism that is rescued by Col2A1-driven smpd3 transgene expression. 54 61
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. 54 61
17307347 2007
23
Obese adults with primary growth hormone resistance (Laron Syndrome) have normal endothelial function. 54 61
17320443 2007
24
Defining normalcy of the somatotropic axis: an attainable goal? 61 54
17410470 2007
25
Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay. 54 61
17154237 2007
26
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 54 61
16912704 2006
27
Dexamethasone stimulates expression of C-type Natriuretic Peptide in chondrocytes. 54 61
17116261 2006
28
Neutron diffraction studies of fluid bilayers with transmembrane proteins: structural consequences of the achondroplasia mutation. 54 61
16950849 2006
29
Mendelian diseases and conditions in Croatian island populations: historic records and new insights. 54 61
16909451 2006
30
C-type natriuretic peptide in growth: a new paradigm. 61 54
16716628 2006
31
The achondroplasia mutation does not alter the dimerization energetics of the fibroblast growth factor receptor 3 transmembrane domain. 54 61
16634636 2006
32
Aspects of achondroplasia in the skulls of dwarf transgenic mice: a cephalometric study. 54 61
16463380 2006
33
Natriuretic peptides, their receptors, and cyclic guanosine monophosphate-dependent signaling functions. 61 54
16291870 2006
34
Stanniocalcin 1 acts as a paracrine regulator of growth plate chondrogenesis. 54 61
16377640 2006
35
FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association? 54 61
17375526 2006
36
Age-related cataract progression in five mouse models for anti-oxidant protection or hormonal influence. 54 61
16129095 2005
37
Gene disruption of Spred-2 causes dwarfism. 54 61
15946934 2005
38
Sustained ERK1/2 but not STAT1 or 3 activation is required for thanatophoric dysplasia phenotypes in PC12 cells. 61 54
15843401 2005
39
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. 54 61
16121806 2005
40
Cell responses to FGFR3 signalling: growth, differentiation and apoptosis. 54 61
15748888 2005
41
Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations. 54 61
15863034 2005
42
A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies. 54 61
15531542 2004
43
FGF2 inhibits proliferation and alters the cartilage-like phenotype of RCS cells. 54 61
15194433 2004
44
SHOX mutations in a family and a fetus with Langer mesomelic dwarfism. 54 61
15214013 2004
45
Constitutive activation of MEK1 in chondrocytes causes Stat1-independent achondroplasia-like dwarfism and rescues the Fgfr3-deficient mouse phenotype. 61 54
14871928 2004
46
IGF-1 and insulin as growth hormones. 54 61
15562823 2004
47
Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway. 54 61
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. 61 54
14606518 2003
49
PTHrP rescues ATDC5 cells from apoptosis induced by FGF receptor 3 mutation. 54 61
12929929 2003
50
Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasia. 54 61
12792737 2003

Variations for Dwarfism

ClinVar genetic disease variations for Dwarfism:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 21 genes GRCh37/hg19 12q24.31-24.32(chr12:123878845-126829341) copy number loss Pathogenic 1047868 GRCh37: 12:123878845-126829341
GRCh38:

Copy number variations for Dwarfism from CNVD:

7
# CNVD ID Chromosome 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 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of JAK-STAT cascade GO:0046427 9.52 GHR GH1
2 response to food GO:0032094 9.51 GHRH GHR
3 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.5 GHR GH1 FGFR3
4 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.49 GHR GH1
5 growth hormone receptor signaling pathway GO:0060396 9.48 GHR GH1
6 hormone metabolic process GO:0042445 9.46 GHRHR GHR
7 positive regulation of hormone secretion GO:0046887 9.43 GHRHR GHRH
8 positive regulation of growth hormone secretion GO:0060124 9.4 GHRHR GHRH
9 adenohypophysis development GO:0021984 9.37 GHRHR GHRH
10 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.26 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 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 peptide hormone binding GO:0017046 8.96 GHRHR GHR
2 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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