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MCID: DWR001
MIFTS: 44

Dwarfism

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

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MalaCards integrated aliases for Dwarfism:

Name: Dwarfism 52 54 42 71

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases Genetic diseases
Anatomical: Endocrine diseases
See all MalaCards categories (disease lists)


External Ids:

UMLS 71 C0013336
Sources

Summaries for Dwarfism

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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 laron 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 Relaxin signaling pathway and Growth hormone receptor signaling. The drugs Fentanyl and Bupivacaine have been mentioned in the context of this disorder. Affiliated tissues include pituitary, bone and testes.

NIH Rare Diseases : 52 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 : 74 Dwarfism, also known as short stature, occurs when an organism is extremely small. In humans, it is... more...

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Related Diseases for Dwarfism

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

(show top 50) (show all 752)
# Related Disease Score Top Affiliating Genes
1 microcephalic osteodysplastic primordial dwarfism, type ii 34.4 RNU4ATAC PCNT
2 laron syndrome 32.9 GHRHR GHR GH1
3 seckel syndrome 2 32.8 PCNT DNA2
4 seckel syndrome 32.5 RNU4ATAC PCNT NSMCE2 DNA2
5 isolated growth hormone deficiency, type ii 32.4 GHRHR GHRH GH1
6 growth hormone deficiency 32.3 GHRHR GH1
7 spondyloepiphyseal dysplasia with congenital joint dislocations 32.0 TRPV4 RNU4ATAC FGFR3
8 pituitary hormone deficiency, combined, 2 31.9 GHRH GHR GH1
9 isolated growth hormone deficiency, type ia 31.5 RNU4ATAC PCNT NSMCE2 GH1 DNA2 CRIPT
10 isolated growth hormone deficiency, type ib 31.4 GHRHR GHRH GH1
11 isolated growth hormone deficiency 31.0 RNU4ATAC PCNT GHRHR GHRH GHR GH1
12 isolated growth hormone deficiency type iii 30.9 GHRHR GHRH GH1
13 skeletal dysplasias 30.7 TRPV4 FGFR3
14 microcephaly 30.6 RNU4ATAC NSMCE2 FGFR3 DNA2 CRIPT
15 odontochondrodysplasia 30.2 TRPV4 RNU4ATAC FGFR3
16 gigantism 30.0 GHRH GH1
17 pituitary hypoplasia 30.0 GHRHR GH1
18 insulin-like growth factor i 29.8 GHRH GHR GH1
19 scoliosis 29.8 TRPV4 GHR GH1 FGFR3
20 brachydactyly 29.7 TRPV4 RNU4ATAC FGFR3
21 turner syndrome 29.5 GHRH GHR GH1
22 septooptic dysplasia 29.3 GHRHR GHRH GH1
23 acromegaly 29.2 GHRHR GHRH GHR GH1
24 anorexia nervosa 29.2 GHRH GHR GH1
25 hypopituitarism 29.1 RNU4ATAC GHRHR GHRH GHR GH1
26 fibrous dysplasia 29.0 GHRH GH1
27 pituitary gland disease 28.4 RNU4ATAC GHRHR GHRH GHR GH1
28 microcephalic osteodysplastic primordial dwarfism, type i 12.7
29 parastremmatic dwarfism 12.6
30 lenz-majewski hyperostotic dwarfism 12.6
31 alopecia-contractures-dwarfism mental retardation syndrome 12.5
32 ichthyosis, mental retardation, dwarfism, and renal impairment 12.5
33 keratosis follicularis, dwarfism, and cerebral atrophy 12.4
34 alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus 12.4
35 microcephalic osteodysplastic primordial dwarfism, type iii 12.3
36 microcephalic primordial dwarfism, montreal type 12.3
37 dwarfism, levi type 12.3
38 megaepiphyseal dwarfism 12.3
39 microcephalic primordial dwarfism, toriello type 12.3
40 dwarfism, familial, with muscle spasms 12.2
41 osteoglophonic dysplasia 12.2
42 dwarfism with stiff joints and ocular abnormalities 12.2
43 mesomelic dwarfism of hypoplastic tibia and radius type 12.2
44 synovial chondromatosis, familial, with dwarfism 12.2
45 tryptophanuria with dwarfism 12.2
46 metatropic dysplasia 12.2
47 thanatophoric dysplasia, type i 12.1
48 microcephalic primordial dwarfism-insulin resistance syndrome 12.1
49 dwarfism with tall vertebrae 12.1
50 syndesmodysplasic dwarfism 12.1

Graphical network of the top 20 diseases related to Dwarfism:



Diseases related to Dwarfism
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Symptoms & Phenotypes for Dwarfism

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UMLS symptoms related to Dwarfism:


back pain, sciatica, muscle cramp
Sources

Drugs & Therapeutics for Dwarfism

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

(show top 50) (show all 97)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
2
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
3
Deslorelin Investigational, Vet_approved Phase 4 57773-65-6
4 Imatinib Mesylate Phase 4 220127-57-1 123596
5 Anesthetics Phase 4
6 Narcotics Phase 4
7 Anesthetics, General Phase 4
8 Analgesics, Opioid Phase 4
9 Central Nervous System Depressants Phase 4
10 Anesthetics, Intravenous Phase 4
11 Analgesics Phase 4
12 Anesthetics, Local Phase 4
13 Adjuvants, Anesthesia Phase 4
14 Antineoplastic Agents, Hormonal Phase 4
15 Contraceptive Agents Phase 4
16 Luteolytic Agents Phase 4
17 Triptorelin Pamoate Phase 4
18
Letrozole Approved, Investigational Phase 3 112809-51-5 3902
19
Anastrozole Approved, Investigational Phase 3 120511-73-1 2187
20
Zinc Approved, Investigational Phase 2, Phase 3 7440-66-6 32051
21
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
22
tannic acid Approved Phase 3 1401-55-4
23
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
24
Glycine Approved, Nutraceutical, Vet_approved Phase 3 56-40-6 750
25 Aromatase Inhibitors Phase 3
26 Estrogen Antagonists Phase 3
27 Steroid Synthesis Inhibitors Phase 3
28 Estrogen Receptor Antagonists Phase 3
29 Natriuretic Agents Phase 3
30 Natriuretic Peptide, C-Type Phase 3
31 Immunologic Factors Phase 3
32 Chelating Agents Phase 2, Phase 3
33 Pharmaceutical Solutions Phase 3
34 Antibodies Phase 3
35 Immunoglobulins Phase 3
36
Oxandrolone Approved, Investigational Phase 2 53-39-4 5878
37
Nicotinamide Approved, Investigational Phase 1, Phase 2 98-92-0 936
38
Folic acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
39
Niacin Approved, Investigational, Nutraceutical Phase 1, Phase 2 59-67-6 938
40 Complement Factor I Phase 2
41 N-(2-aminoethyl)-5-isoquinolinesulfonamide Phase 2
42 Anabolic Agents Phase 2
43 Androgens Phase 2
44 Prolactin Release-Inhibiting Factors Phase 2
45 Estrogens Phase 2
46 Vitamins Phase 1, Phase 2
47 Nutrients Phase 1, Phase 2
48 Micronutrients Phase 1, Phase 2
49 Trace Elements Phase 1, Phase 2
50 Hypolipidemic Agents 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 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children (Clinical Trial I) Unknown status NCT02380235 Phase 4
3 Randomization to Letrozole vs. Anastrozole in Short Pubertal Males Unknown status NCT02137538 Phase 4 Letrozole;Anastrozole
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, Open-label, Phase IV Clinical Trial With Different Administration Dosage of PEG Somatropin Unknown status NCT03249480 Phase 4
6 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
7 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
8 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
9 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
10 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)
11 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
12 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)
13 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
14 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
15 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®)
16 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
17 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
18 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
19 Growth Hormone and Endothelial Function in Children Completed NCT00373386 Phase 4 growth hormone
20 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
21 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
22 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
23 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
24 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® )
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 Cardiovascular Effects on Growth Hormone Replacement Therapy in Adults With Primary or Secondary Childhood Onset Growth Hormone Deficiency Terminated NCT01698944 Phase 4 somatropin
28 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
29 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
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 Somatropin (Norditropin) in Children With Growth Failure Associated With ICF Deficiency. Completed NCT00102817 Phase 3 somatropin
32 Effect of Growth Hormone in Children With Growth Hormone Deficiency and Idiopathic Short Stature Completed NCT00262249 Phase 3 somatropin
33 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
34 Extended Clinical Study of LY137998 [Somatropin (Recombinant DNA Origin)] in Adults With Growth Hormone Deficiency Completed NCT00191360 Phase 3 Somatropin
35 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®
36 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
37 An Open, Multi-Centre Trial Evaluating Acceptance of the New Liquid Growth Hormone Formulation - Norditropin Simplexxâ„¢ in Children With GH Deficiency Completed NCT01563926 Phase 3 somatropin
38 Investigation of the Efficacy and Safety of NN-220 for 48 Weeks in Adults With Growth Hormone Deficiency Completed NCT00184743 Phase 3 somatropin
39 Investigation of the Efficacy and Safety of hGH in Long Term (More Than 48 Weeks) in GHDA. Completed NCT00184730 Phase 3 somatropin
40 Effect of Two Years of Treatment With Norditropin® SimpleXx® on Bone Mineral Density in Young Adults With Childhood-Onset Growth Hormone Deficiency Completed NCT00184678 Phase 3 somatropin
41 A Phase III, Double-Blind, Randomized, Placebo-Controlled, Parallel-Group, Multicenter Study to Assess Efficacy and Safety of LB03002 Administered Weekly in Adults With Growth Hormone Deficiency. Completed NCT00294619 Phase 3 growth hormone
42 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
43 Investigation of the Efficacy and Safety of NN-220 for 24 Weeks in Adults With Growth Hormone Deficiency Completed NCT00519558 Phase 3 somatropin
44 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
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 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)
47 fliGHt: A Multicenter, Phase 3, Open-Label, 26-Week Trial Investigating the Safety, Tolerability and Efficacy of TransCon hGH Administered Once Weekly in Children With GHD Completed NCT03305016 Phase 3 TransCon hGH
48 A Multicentre, Randomised, Open-labelled, Parallel-group, Activecontrolled Trial to Evaluate the Safety of Once Weekly Dosing of Somapacitan (NNC0195-0092) and Daily Norditropin® FlexPro® for 52 Weeks in Previously Human Growth Hormone Treated Japanese Adults With Growth Hormone Deficiency Completed NCT03075644 Phase 3 somapacitan;Norditropin
49 Norditropin® and Norditropin® Cartridges: An Open-Label, Randomized, Comparative Safety and Efficacy Trial in Children With Growth Hormone Deficiency Completed NCT01502124 Phase 3 somatropin;somatropin
50 Efficacy and Safety of a High Dosage Compared to the Label Dosage of Humatrope in Early Pubertal Stage Children With Growth Hormone Deficiency Completed NCT00191165 Phase 3 Somatropin;Somatropin

Search NIH Clinical Center for Dwarfism

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Growth Hormone
somatrem
Somatropin
SOMATROPIN (RECOMBINANT DNA ORIGIN)
Sources

Genetic Tests for Dwarfism

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Sources

Anatomical Context for Dwarfism

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MalaCards organs/tissues related to Dwarfism:

40
Pituitary, Bone, Testes, Kidney, Thyroid, Brain, Heart
Sources

Publications for Dwarfism

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Articles related to Dwarfism:

(show top 50) (show all 4472)
# Title Authors PMID Year
1
Results through skeletal maturity of planned fibular nonunion for the treatment of genu varum in achondroplasia: An observational retrospective study. 42
31689811 2019
2
AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS AND AMERICAN COLLEGE OF ENDOCRINOLOGY GUIDELINES FOR MANAGEMENT OF GROWTH HORMONE DEFICIENCY IN ADULTS AND PATIENTS TRANSITIONING FROM PEDIATRIC TO ADULT CARE. 42
31760824 2019
3
Cockayne syndrome group B deficiency reduces H3K9me3 chromatin remodeler SETDB1 and exacerbates cellular aging. 42
31276581 2019
4
Gain-of-function mutation in FGFR3 in mice leads to decreased bone mass by affecting both osteoblastogenesis and osteoclastogenesis. 54 61
20053668 2010
5
Total and high molecular weight adiponectin are elevated in patients with Laron syndrome despite marked obesity. 54 61
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. 54 61
19733620 2009
7
Increased p21 expression in chondrocytes of achondroplasic children independently from the presence of the G380R FGFR3 mutation. 54 61
19802676 2009
8
Dimeric PROP1 binding to diverse palindromic TAAT sequences promotes its transcriptional activity. 54 61
19524124 2009
9
IGF-I replacement therapy in children with congenital IGF-I deficiency (Laron syndrome) maintains heart dimension and function. 54 61
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. 54 61
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. 54 61
19061984 2008
14
Endothelial function and vascular oxidative stress in long-lived GH/IGF-deficient Ames dwarf mice. 54 61
18757483 2008
15
P2Y receptors activated by diadenosine polyphosphates reestablish Ca(2+) transients in achondroplasic chondrocytes. 54 61
18093889 2008
16
Insulin-like growth factor-I treatment of children with Laron syndrome (primary growth hormone insensitivity). 54 61
18367997 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. 54 61
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. 54 61
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
Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay. 54 61
17154237 2007
25
Defining normalcy of the somatotropic axis: an attainable goal? 54 61
17410470 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
Neutron diffraction studies of fluid bilayers with transmembrane proteins: structural consequences of the achondroplasia mutation. 54 61
16950849 2006
28
Dexamethasone stimulates expression of C-type Natriuretic Peptide in chondrocytes. 54 61
17116261 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. 54 61
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. 54 61
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. 54 61
15843401 2005
39
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. 54 61
16121806 2005
40
Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations. 54 61
15863034 2005
41
Cell responses to FGFR3 signalling: growth, differentiation and apoptosis. 54 61
15748888 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
SHOX mutations in a family and a fetus with Langer mesomelic dwarfism. 54 61
15214013 2004
44
FGF2 inhibits proliferation and alters the cartilage-like phenotype of RCS cells. 54 61
15194433 2004
45
Constitutive activation of MEK1 in chondrocytes causes Stat1-independent achondroplasia-like dwarfism and rescues the Fgfr3-deficient mouse phenotype. 54 61
14871928 2004
46
Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway. 54 61
14702637 2004
47
IGF-1 and insulin as growth hormones. 54 61
15562823 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. 54 61
14606518 2003
49
PTHrP rescues ATDC5 cells from apoptosis induced by FGF receptor 3 mutation. 54 61
12929929 2003
50
Fibroblast growth factor receptor-3 as a therapeutic target for Achondroplasia--genetic short limbed dwarfism. 54 61
12816345 2003
Sources

Variations for Dwarfism

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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
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Expression for Dwarfism

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Search GEO for disease gene expression data for Dwarfism.
Sources

Pathways for Dwarfism

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Pathways related to Dwarfism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Relaxin signaling pathway 36
Show member pathways
 11.85 GHRHR GHRH GHR GH1
2
Growth hormone receptor signaling 65
Show member pathways
 10.77 GHR GH1
3
Endochondral Ossification 1
10.61 GHR GH1 FGFR3
Sources

GO Terms for Dwarfism

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

# Name GO ID Score Top Affiliating Genes
1 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 hormone metabolic process GO:0042445 9.49 GHRHR GHR
5 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.48 GHR GH1
6 growth hormone receptor signaling pathway GO:0060396 9.46 GHR GH1
7 positive regulation of growth hormone secretion GO:0060124 9.43 GHRHR GHRH
8 positive regulation of hormone secretion GO:0046887 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 9.16 GHRHR GHR
2 growth factor binding GO:0019838 8.96 GHRHR GHR
3 SH2 domain binding GO:0042169 8.62 TRPV4 GHR
Sources

Sources for Dwarfism

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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