MCID: DWR001
MIFTS: 44

Dwarfism

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

Aliases & Classifications for Dwarfism

MalaCards integrated aliases for Dwarfism:

Name: Dwarfism 52 54 42 71

Classifications:



External Ids:

UMLS 71 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 metatropic dysplasia, 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, and related phenotype is adipose tissue.

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...

Related Diseases for Dwarfism

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

(showing 746, show less)
# Related Disease Score Top Affiliating Genes
1 microcephalic osteodysplastic primordial dwarfism, type ii 34.4 RNU4ATAC PCNT
2 metatropic dysplasia 33.3 TRPV4 DYM
3 seckel syndrome 2 33.1 PCNT DNA2
4 seckel syndrome 32.8 RNU4ATAC PCNT NSMCE2 DNA2
5 laron syndrome 32.6 GHRHR GHR GH1
6 isolated growth hormone deficiency, type ii 32.6 GHRHR GHRH GH1
7 growth hormone deficiency 32.3 GHRHR GH1
8 spondyloepiphyseal dysplasia with congenital joint dislocations 32.1 TRPV4 RNU4ATAC FGFR3
9 spondyloepimetaphyseal dysplasia, matrilin-3 related 32.0 TRPV4 RNU4ATAC DYM
10 isolated growth hormone deficiency, type ia 32.0 RNU4ATAC PCNT NSMCE2 GH1 DNA2 CRIPT
11 metaphyseal chondrodysplasia, jansen type 31.7 FGFR3 DYM
12 isolated growth hormone deficiency, type ib 31.6 GHRHR GHRH GH1
13 pituitary hormone deficiency, combined, 2 31.3 GHRHR GHRH GHR GH1
14 isolated growth hormone deficiency type iii 31.1 GHRHR GHRH GH1
15 isolated growth hormone deficiency 30.9 RNU4ATAC PCNT GHRHR GHRH GHR GH1
16 skeletal dysplasias 30.8 TRPV4 FGFR3
17 microcephaly 30.6 RNU4ATAC NSMCE2 FGFR3 DYM DNA2 CRIPT
18 gigantism 30.2 GHRH GH1
19 pituitary hypoplasia 30.1 GHRHR GH1
20 insulin-like growth factor i 29.7 GHRH GHR GH1
21 brachydactyly 29.6 TRPV4 RNU4ATAC FGFR3
22 odontochondrodysplasia 29.5 TRPV4 RNU4ATAC PCNT FGFR3 DYM
23 septooptic dysplasia 29.5 GHRHR GHRH GH1
24 scoliosis 29.5 TRPV4 GHR GH1 FGFR3
25 hypoglycemia 29.4 GHRH GHR GH1
26 turner syndrome 29.3 GHRH GHR GH1
27 acromegaly 29.1 GHRHR GHRH GHR GH1
28 anorexia nervosa 29.0 GHRH GHR GH1
29 hypopituitarism 28.9 RNU4ATAC GHRHR GHRH GHR GH1
30 pituitary gland disease 28.2 RNU4ATAC GHRHR GHRH GHR GH1
31 microcephalic osteodysplastic primordial dwarfism, type i 12.7
32 parastremmatic dwarfism 12.6
33 lenz-majewski hyperostotic dwarfism 12.6
34 alopecia-contractures-dwarfism mental retardation syndrome 12.5
35 ichthyosis, mental retardation, dwarfism, and renal impairment 12.5
36 keratosis follicularis, dwarfism, and cerebral atrophy 12.4
37 alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus 12.4
38 microcephalic osteodysplastic primordial dwarfism, type iii 12.3
39 microcephalic primordial dwarfism, montreal type 12.3
40 dwarfism, levi type 12.3
41 megaepiphyseal dwarfism 12.3
42 microcephalic primordial dwarfism, toriello type 12.3
43 dwarfism, familial, with muscle spasms 12.2
44 alopecia-contractures-dwarfism-intellectual disability syndrome 12.2
45 osteoglophonic dysplasia 12.2
46 dwarfism with stiff joints and ocular abnormalities 12.2
47 mesomelic dwarfism of hypoplastic tibia and radius type 12.2
48 synovial chondromatosis, familial, with dwarfism 12.2
49 tryptophanuria with dwarfism 12.2
50 microcephalic primordial dwarfism-insulin resistance syndrome 12.2
51 dwarfism with tall vertebrae 12.2
52 syndesmodysplasic dwarfism 12.2
53 genital dwarfism 12.2
54 thanatophoric dysplasia, type i 12.2
55 achondroplasia 12.1
56 seckel syndrome 1 12.1
57 oliver-mcfarlane syndrome 12.1
58 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis 12.1
59 dwarfism, low-birth-weight type, with unresponsiveness to growth hormone 12.1
60 dwarfism, proportionate, with hip dislocation 12.1
61 pituitary dwarfism with large sella turcica 12.1
62 brachydactylous dwarfism mseleni type 12.1
63 silver-russell syndrome 1 12.1
64 diastrophic dysplasia 12.1
65 thanatophoric dysplasia, type ii 12.0
66 dwarfism, mental retardation, and eye abnormality 12.0
67 dwarfism bluish sclerae 12.0
68 dwarfism deafness retinitis pigmentosa 12.0
69 dwarfism lethal type advanced bone age 12.0
70 dwarfism thin bones multiple fractures 12.0
71 enchondromatosis dwarfism deafness 12.0
72 genital dwarfism, turner type 12.0
73 robinow syndrome 12.0
74 peters-plus syndrome 12.0
75 dyssegmental dysplasia, rolland-desbuquois type 12.0
76 three m syndrome 1 12.0
77 geleophysic dysplasia 12.0
78 boomerang dysplasia 12.0
79 acromesomelic dysplasia, hunter-thompson type 11.9
80 alazami syndrome 11.9
81 acromesomelic dysplasia, maroteaux type 11.9
82 kniest dysplasia 11.9
83 robinow syndrome, autosomal dominant 1 11.8
84 acromesomelic dysplasia 11.8
85 dyssegmental dysplasia, silverman-handmaker type 11.8
86 smith-mccort dysplasia 1 11.7
87 seckel syndrome 7 11.7
88 ulna and fibula, hypoplasia of 11.7
89 geroderma osteodysplasticum 11.7
90 schwartz-jampel syndrome, type 1 11.7
91 langer mesomelic dysplasia 11.6
92 campomelic dysplasia 11.6
93 hypochondroplasia 11.6
94 meier-gorlin syndrome 1 11.6
95 cartilage-hair hypoplasia 11.6
96 atelosteogenesis, type i 11.6
97 robinow syndrome, autosomal recessive 1 11.6
98 desbuquois dysplasia 1 11.5
99 platyspondylic lethal skeletal dysplasia, torrance type 11.5
100 kenny-caffey syndrome, type 2 11.5
101 oculopalatocerebral syndrome 11.5
102 kowarski syndrome 11.5
103 spondyloepimetaphyseal dysplasia, sponastrime type 11.5
104 spondyloepiphyseal dysplasia congenita 11.5
105 spondylocostal dysostosis 5 11.5
106 chondrodysplasia, blomstrand type 11.5
107 anauxetic dysplasia 1 11.5
108 nievergelt syndrome 11.4
109 short-limb skeletal dysplasia with severe combined immunodeficiency 11.4
110 spondyloepimetaphyseal dysplasia, micromelic 11.4
111 isolated growth hormone deficiency, type iv 11.4
112 cockayne syndrome 11.4
113 pituitary hormone deficiency, combined, 3 11.4
114 lethal short-limb skeletal dysplasia, al gazali type 11.4
115 ellis-van creveld syndrome 11.4
116 leri-weill dyschondrosteosis 11.4
117 kabuki syndrome 1 11.4
118 metaphyseal chondrodysplasia, schmid type 11.4
119 spondyloepimetaphyseal dysplasia, strudwick type 11.4
120 cockayne syndrome a 11.4
121 dyggve-melchior-clausen disease 11.4
122 cousin syndrome 11.4
123 seckel syndrome 8 11.4
124 achondrogenesis 11.3
125 dubowitz syndrome 11.3
126 growth hormone insensitivity with immunodeficiency 11.3
127 pseudodiastrophic dysplasia 11.3
128 geleophysic dysplasia 1 11.3
129 microcephaly, short stature, and polymicrogyria with or without seizures 11.3
130 desbuquois dysplasia 11.3
131 acromesomelic dysplasia campailla martinelli type 11.3
132 cantu sanchez-corona fragoso syndrome 11.3
133 hydrocephalus obesity hypogonadism 11.3
134 singh chhaparwal dhanda syndrome 11.3
135 pseudoachondroplasia 11.3
136 achondrogenesis, type ii 11.3
137 schneckenbecken dysplasia 11.3
138 mulibrey nanism 11.3
139 short-rib thoracic dysplasia 3 with or without polydactyly 11.3
140 chondrodysplasia, grebe type 11.3
141 bloom syndrome 11.3
142 kyphomelic dysplasia 11.3
143 schimke immunoosseous dysplasia 11.3
144 de sanctis-cacchione syndrome 11.3
145 short stature with microcephaly and distinctive facies 11.3
146 microcephaly and chorioretinopathy, autosomal recessive, 2 11.3
147 achondroplasia, severe, with developmental delay and acanthosis nigricans 11.3
148 seckel syndrome 9 11.3
149 meier-gorlin syndrome 6 11.3
150 seckel syndrome 10 11.3
151 heyn-sproul-jackson syndrome 11.3
152 weismann-netter syndrome 11.2
153 coffin-siris syndrome 1 11.1
154 bangstad syndrome 11.1
155 otospondylomegaepiphyseal dysplasia, autosomal recessive 11.1
156 mesomelic limb shortening and bowing 11.1
157 panhypopituitarism, x-linked 11.1
158 microcephaly 10, primary, autosomal recessive 11.1
159 coffin syndrome 1 11.1
160 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 11.1
161 bone dysplasia, lethal, holmgren type 11.1
162 rhizomelic chondrodysplasia punctata, type 1 11.1
163 rhizomelic chondrodysplasia punctata, type 2 11.1
164 kabuki syndrome 2 11.1
165 rhizomelic chondrodysplasia punctata, type 3 11.1
166 xfe progeroid syndrome 11.1
167 rhizomelic chondrodysplasia punctata, type 5 11.1
168 fibular hemimelia 11.1
169 mesomelia 11.1
170 mucopolysaccharidosis, type vi 11.0
171 mseleni joint disease 11.0
172 geleophysic dysplasia 2 11.0
173 astley-kendall syndrome 11.0
174 berk-tabatznik syndrome 11.0
175 jorgenson lenz syndrome 11.0
176 seckel like syndrome majoor-krakauer type 11.0
177 cleidorhizomelic syndrome 10.9
178 cockayne syndrome b 10.9
179 beukes hip dysplasia 10.9
180 ichthyosis bullosa of siemens 10.9
181 skin creases, congenital symmetric circumferential, 1 10.9
182 microspherophakia-metaphyseal dysplasia 10.9
183 spondylometaphyseal dysplasia, kozlowski type 10.9
184 weyers acrofacial dysostosis 10.9
185 greenberg dysplasia 10.9
186 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.9
187 laurence-moon syndrome 10.9
188 morquio syndrome c 10.9
189 pycnodysostosis 10.9
190 pyknoachondrogenesis 10.9
191 spondylometaepiphyseal dysplasia, short limb-hand type 10.9
192 xeroderma pigmentosum, complementation group d 10.9
193 xeroderma pigmentosum, complementation group g 10.9
194 spondyloepimetaphyseal dysplasia, x-linked 10.9
195 scarf syndrome 10.9
196 spondyloepiphyseal dysplasia tarda, x-linked 10.9
197 chondrodysplasia-pseudohermaphroditism syndrome 10.9
198 mesomelia-synostoses syndrome 10.9
199 gracile bone dysplasia 10.9
200 spondylocostal dysostosis 3, autosomal recessive 10.9
201 xeroderma pigmentosum, complementation group b 10.9
202 handigodu joint disease 10.9
203 seckel syndrome 4 10.9
204 brachyolmia type 2 10.9
205 spondylocostal dysostosis 4, autosomal recessive 10.9
206 meier-gorlin syndrome 2 10.9
207 meier-gorlin syndrome 3 10.9
208 meier-gorlin syndrome 4 10.9
209 meier-gorlin syndrome 5 10.9
210 seckel syndrome 5 10.9
211 seckel syndrome 6 10.9
212 smith-mccort dysplasia 2 10.9
213 robinow syndrome, autosomal dominant 2 10.9
214 roifman syndrome 10.9
215 meier-gorlin syndrome 7 10.9
216 meier-gorlin syndrome 8 10.9
217 saul-wilson syndrome 10.9
218 robinow syndrome, autosomal recessive 2 10.9
219 fibrochondrogenesis 10.9
220 rhizomelic chondrodysplasia punctata 10.9
221 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome 10.9
222 mucopolysaccharidoses 10.9
223 autosomal recessive chorioretinopathy-microcephaly syndrome 10.9
224 hypothyroidism 10.4
225 cleft palate, isolated 10.3
226 hypogonadism 10.3
227 rickets 10.3
228 dysostosis 10.3
229 autosomal recessive disease 10.3
230 branchiootic syndrome 1 10.2
231 gonadal dysgenesis 10.2
232 moyamoya disease 1 10.2
233 deficiency anemia 10.2
234 diabetes mellitus 10.2
235 coxa vara 10.2
236 polydactyly 10.2
237 hydrocephalus 10.2
238 cataract 10.1
239 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.1
240 bone disease 10.1
241 craniosynostosis 10.1
242 iron metabolism disease 10.1
243 diabetes insipidus 10.1
244 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 10.1 GHRH GH1
245 spondyloepiphyseal dysplasia, maroteaux type 10.1 TRPV4 DYM
246 metaphyseal dysplasia 10.1
247 iron deficiency anemia 10.1
248 ichthyosis 10.1
249 aminoaciduria 10.1
250 encephalocele 10.1
251 hypotonia 10.1
252 pigmentation disease 10.1 RNU4ATAC FGFR3
253 pituitary-dependent cushing's disease 10.1 GHRH GH1
254 pituitary stalk interruption syndrome 10.1 GHRHR GH1
255 hypothalamic disease 10.0 GHRH GH1
256 achondrogenesis, type ia 10.0
257 hydronephrosis 10.0
258 clubfoot 10.0
259 neutropenia 10.0
260 pseudohypoparathyroidism 10.0
261 hypotrichosis 10.0
262 alopecia 10.0
263 brachyolmia 10.0 TRPV4 DYM
264 cornelia de lange syndrome 1 10.0
265 nevus, epidermal 10.0
266 schistosoma mansoni infection, susceptibility/ 10.0
267 chromosome 2q35 duplication syndrome 10.0
268 cryptorchidism, unilateral or bilateral 10.0
269 immune deficiency disease 10.0
270 retinitis pigmentosa 10.0
271 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 10.0
272 alacrima, achalasia, and mental retardation syndrome 10.0
273 mucopolysaccharidosis-plus syndrome 10.0
274 pain agnosia 10.0
275 ptosis 10.0
276 inguinal hernia 10.0
277 primary microcephaly 10.0
278 neuroretinitis 10.0
279 microphthalmia 10.0
280 constrictive pericarditis 10.0
281 cornelia de lange syndrome 10.0
282 schistosomiasis 10.0
283 hypophosphatasia 10.0
284 pericarditis 10.0
285 hyperostosis 10.0
286 ectodermal dysplasia 10.0
287 retinitis 10.0
288 cerebrovascular disease 10.0
289 polyhydramnios 10.0
290 radioulnar synostosis 10.0 RNU4ATAC FGFR3
291 pseudohypoparathyroidism, type ia 10.0 GHRH GH1
292 bone development disease 10.0 RNU4ATAC FGFR3 DYM
293 acanthosis nigricans 9.9
294 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.9
295 hypercholesterolemia, familial, 1 9.9
296 hypertelorism 9.9
297 moebius syndrome 9.9
298 hutchinson-gilford progeria syndrome 9.9
299 celiac disease 1 9.9
300 cystic fibrosis 9.9
301 otopalatodigital syndrome, type i 9.9
302 achondrogenesis, type ib 9.9
303 light fixation seizure syndrome 9.9
304 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
305 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.9
306 tooth agenesis 9.9
307 blepharophimosis 9.9
308 respiratory failure 9.9
309 synostosis 9.9
310 goiter 9.9
311 telangiectasis 9.9
312 renal osteodystrophy 9.9
313 amenorrhea 9.9
314 dermatitis 9.9
315 agnosia 9.9
316 severe combined immunodeficiency 9.9
317 chromosomal triplication 9.9
318 diencephalic syndrome 9.9
319 aneurysm 9.9
320 pituitary tumors 9.9
321 posttransplant acute limbic encephalitis 9.9
322 occipital encephalocele 9.9
323 idiopathic hypercalciuria 9.9
324 overgrowth syndrome 9.9
325 vipoma 9.9 GHRH GH1
326 growth hormone secreting pituitary adenoma 9.9 GHRHR GHRH
327 non-functioning pituitary adenoma 9.9 GHR GH1
328 blepharophimosis, ptosis, and epicanthus inversus 9.8
329 coloboma of macula 9.8
330 epicanthus 9.8
331 larsen syndrome 9.8
332 macroglossia 9.8
333 pectus excavatum 9.8
334 prader-willi syndrome 9.8
335 retinal detachment 9.8
336 neural tube defects 9.8
337 chondrodysplasia punctata syndrome 9.8
338 cutis laxa, autosomal recessive, type iiia 9.8
339 hypogonadism, male 9.8
340 johanson-blizzard syndrome 9.8
341 microcephaly-micromelia syndrome 9.8
342 myxedema 9.8
343 shwachman-diamond syndrome 1 9.8
344 rothmund-thomson syndrome, type 2 9.8
345 smith-lemli-opitz syndrome 9.8
346 hypothyroidism, congenital, nongoitrous, 4 9.8
347 opitz gbbb syndrome, type i 9.8
348 body mass index quantitative trait locus 11 9.8
349 hypophosphatemic rickets, x-linked recessive 9.8
350 ataxia and polyneuropathy, adult-onset 9.8
351 yemenite deaf-blind hypopigmentation syndrome 9.8
352 body mass index quantitative trait locus 9 9.8
353 body mass index quantitative trait locus 8 9.8
354 omenn syndrome 9.8
355 brittle bone disorder 9.8
356 patent ductus arteriosus 1 9.8
357 body mass index quantitative trait locus 4 9.8
358 body mass index quantitative trait locus 10 9.8
359 body mass index quantitative trait locus 7 9.8
360 chromosome 16p13.3 deletion syndrome, proximal 9.8
361 intraocular pressure quantitative trait locus 9.8
362 body mass index quantitative trait locus 12 9.8
363 body mass index quantitative trait locus 14 9.8
364 body mass index quantitative trait locus 18 9.8
365 short stature, microcephaly, and endocrine dysfunction 9.8
366 microcephaly, short stature, and limb abnormalities 9.8
367 joint laxity, short stature, and myopia 9.8
368 body mass index quantitative trait locus 19 9.8
369 body mass index quantitative trait locus 20 9.8
370 congenital hypothyroidism 9.8
371 hypophosphatemia 9.8
372 lissencephaly 9.8
373 asphyxiating thoracic dystrophy 9.8
374 fibrous dysplasia 9.8
375 spina bifida occulta 9.8
376 hypogonadotropic hypogonadism 9.8
377 cholelithiasis 9.8
378 thalassemia 9.8
379 osteomalacia 9.8
380 interstitial nephritis 9.8
381 cystinosis 9.8
382 corneal edema 9.8
383 hypoparathyroidism 9.8
384 dysgammaglobulinemia 9.8
385 myopia 9.8
386 inflammatory spondylopathy 9.8
387 multiple epiphyseal dysplasia 9.8
388 dilated cardiomyopathy 9.8
389 endomyocardial fibrosis 9.8
390 exocrine pancreatic insufficiency 9.8
391 osteopetrosis 9.8
392 hyperparathyroidism 9.8
393 cholestasis 9.8
394 thrombocytopenia 9.8
395 calcinosis 9.8
396 cutis laxa 9.8
397 lysosomal storage disease 9.8
398 craniopharyngioma 9.8
399 liver cirrhosis 9.8
400 infertility 9.8
401 hemolytic anemia 9.8
402 lymphopenia 9.8
403 spondylitis 9.8
404 spinal stenosis 9.8
405 osteochondrosis 9.8
406 osteochondritis dissecans 9.8
407 retinal degeneration 9.8
408 arthritis 9.8
409 cleft lip 9.8
410 pathologic nystagmus 9.8
411 toxoplasmosis 9.8
412 hypereosinophilic syndrome 9.8
413 morquio syndrome 9.8
414 cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders 9.8
415 48,xyyy 9.8
416 madelung deformity 9.8
417 perniosis 9.8
418 primary agammaglobulinemia 9.8
419 splenomegaly 9.8
420 weber syndrome 9.8
421 hereditary hypophosphatemic rickets 9.8
422 cerebral aneurysms 9.8
423 cerebral atrophy 9.8
424 encephalopathy 9.8
425 myotonia 9.8
426 progeroid syndrome 9.8
427 microlissencephaly 9.8
428 ciliopathy 9.8
429 idiopathic avascular necrosis 9.8
430 premature aging 9.8
431 spondyloarthropathy 1 9.7
432 gastroesophageal reflux 9.7
433 colorectal cancer 9.7
434 cat eye syndrome 9.7
435 cervical rib 9.7
436 alagille syndrome 1 9.7
437 chondrodysplasia punctata, tibia-metacarpal type 9.7
438 coarctation of aorta 9.7
439 darier-white disease 9.7
440 major affective disorder 1 9.7
441 diabetes mellitus, noninsulin-dependent 9.7
442 ehlers-danlos syndrome, spondylodysplastic type, 1 9.7
443 multiple endocrine neoplasia, type i 9.7
444 epidermoid cysts 9.7
445 femoral-facial syndrome 9.7
446 fibrosis of extraocular muscles, congenital, 1 9.7
447 myhre syndrome 9.7
448 holt-oram syndrome 9.7
449 huntington disease 9.7
450 renal cell carcinoma, nonpapillary 9.7
451 endosteal hyperostosis, autosomal dominant 9.7
452 hypertriglyceridemia, familial 9.7
453 chromosome 18p deletion syndrome 9.7
454 lipomatosis, multiple 9.7
455 marfan syndrome 9.7
456 noonan syndrome 1 9.7
457 optic nerve hypoplasia, bilateral 9.7
458 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 9.7
459 osteoporosis 9.7
460 otitis media 9.7
461 pelvis-shoulder dysplasia 9.7
462 porphyria, acute intermittent 9.7
463 dowling-degos disease 1 9.7
464 retinoblastoma 9.7
465 schizophrenia 9.7
466 spinal arachnoiditis 9.7
467 split-hand/foot malformation 1 9.7
468 strabismus 9.7
469 sturge-weber syndrome 9.7
470 telecanthus 9.7
471 thyroid hormone resistance, generalized, autosomal dominant 9.7
472 trichomegaly 9.7
473 trichorhinophalangeal syndrome, type i 9.7
474 wolf-hirschhorn syndrome 9.7
475 antley-bixler syndrome with genital anomalies and disordered steroidogenesis 9.7
476 arthropathy, progressive pseudorheumatoid, of childhood 9.7
477 ataxia-telangiectasia 9.7
478 camptomelic syndrome, long-limb type 9.7
479 yunis-varon syndrome 9.7
480 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.7
481 corpus callosum, agenesis of 9.7
482 hypothyroidism, congenital, nongoitrous, 2 9.7
483 cystinuria 9.7
484 dermochondrocorneal dystrophy 9.7
485 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 9.7
486 ectopia lentis 2, isolated, autosomal recessive 9.7
487 epidermolysis bullosa dystrophica, autosomal recessive 9.7
488 fanconi-bickel syndrome 9.7
489 du pan syndrome 9.7
490 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 9.7
491 galactorrhea 9.7
492 hydrocephalus, congenital, 1 9.7
493 dubin-johnson syndrome 9.7
494 donohue syndrome 9.7
495 lipoid proteinosis of urbach and wiethe 9.7
496 macrocephaly/megalencephaly syndrome, autosomal recessive 9.7
497 marden-walker syndrome 9.7
498 meckel syndrome, type 1 9.7
499 microcephaly 1, primary, autosomal recessive 9.7
500 nijmegen breakage syndrome 9.7
501 multiple pterygium syndrome, lethal type 9.7
502 neu-laxova syndrome 1 9.7
503 3-methylglutaconic aciduria, type iii 9.7
504 pierre robin syndrome 9.7
505 pituitary hormone deficiency, combined, 4 9.7
506 reticulum cell sarcoma 9.7
507 sjogren-larsson syndrome 9.7
508 peeling skin syndrome 1 9.7
509 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 9.7
510 spondyloepimetaphyseal dysplasia, irapa type 9.7
511 taurodontism 9.7
512 thrombocytopenia-absent radius syndrome 9.7
513 spastic paraplegia 20, autosomal recessive 9.7
514 xeroderma pigmentosum, variant type 9.7
515 chondrodysplasia punctata 1, x-linked recessive 9.7
516 choroideremia 9.7
517 hypophosphatemic rickets, x-linked dominant 9.7
518 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.7
519 ifap syndrome with or without bresheck syndrome 9.7
520 melnick-needles syndrome 9.7
521 muscular dystrophy, duchenne type 9.7
522 tooth size 9.7
523 epilepsy, childhood absence 1 9.7
524 leukemia, acute myeloid 9.7
525 autoimmune lymphoproliferative syndrome 9.7
526 hyperzincemia with functional zinc depletion 9.7
527 astigmatism 9.7
528 dermatitis, atopic 9.7
529 tonoki syndrome 9.7
530 nonaka myopathy 9.7
531 nasopharyngeal carcinoma 9.7
532 aplastic anemia 9.7
533 major affective disorder 5 9.7
534 major affective disorder 6 9.7
535 bone mineral density quantitative trait locus 8 9.7
536 pseudopseudohypoparathyroidism 9.7
537 microvascular complications of diabetes 5 9.7
538 pituitary hormone deficiency, combined, 1 9.7
539 leukemia, acute lymphoblastic 9.7
540 fanconi renotubular syndrome 2 9.7
541 microcephaly, seizures, and developmental delay 9.7
542 bone mineral density quantitative trait locus 15 9.7
543 macrostomia, isolated 9.7
544 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 9.7
545 cyanosis, transient neonatal 9.7
546 nail disorder, nonsyndromic congenital, 9 9.7
547 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.7
548 hyperprolactinemia 9.7
549 short-rib thoracic dysplasia 10 with or without polydactyly 9.7
550 acid-labile subunit deficiency 9.7
551 microcephaly 13, primary, autosomal recessive 9.7
552 epileptic encephalopathy, early infantile, 28 9.7
553 hyperproinsulinemia 9.7
554 polymicrogyria with or without vascular-type ehlers-danlos syndrome 9.7
555 microcephaly, growth deficiency, seizures, and brain malformations 9.7
556 galloway-mowat syndrome 6 9.7
557 gastrointestinal ulceration, recurrent, with dysfunctional platelets 9.7
558 silver-russell syndrome 5 9.7
559 posterior polar cataract 9.7
560 oculocutaneous albinism 9.7
561 fetal alcohol syndrome 9.7
562 alcohol-related birth defect 9.7
563 proximal symphalangism 9.7
564 ehlers-danlos syndrome progeroid type 9.7
565 sleep apnea 9.7
566 paraphilia disorder 9.7
567 apraxia 9.7
568 idiopathic scoliosis 9.7
569 tracheomalacia 9.7
570 mastoiditis 9.7
571 omphalocele 9.7
572 spinal disease 9.7
573 recessive dystrophic epidermolysis bullosa 9.7
574 autosomal recessive congenital ichthyosis 9.7
575 muscular disease 9.7
576 hypochondrogenesis 9.7
577 renal hypoplasia 9.7
578 endometrial hyperplasia 9.7
579 aortic dissection 9.7
580 isolated ectopia lentis 9.7
581 familial isolated trichomegaly 9.7
582 pleomorphic lipoma 9.7
583 suppression amblyopia 9.7
584 amblyopia 9.7
585 ametropic amblyopia 9.7
586 leukodystrophy 9.7
587 glucose intolerance 9.7
588 fanconi syndrome 9.7
589 giardiasis 9.7
590 renal hypertension 9.7
591 malignant hypertension 9.7
592 lemierre's syndrome 9.7
593 congenital aphakia 9.7
594 chondrocalcinosis 9.7
595 infant gynecomastia 9.7
596 nephrosclerosis 9.7
597 onchocerciasis 9.7
598 gestational diabetes 9.7
599 visual epilepsy 9.7
600 nephrotic syndrome 9.7
601 hypertrophic cardiomyopathy 9.7
602 osteopoikilosis 9.7
603 conn's syndrome 9.7
604 hemosiderosis 9.7
605 lymphocytic choriomeningitis 9.7
606 arachnoiditis 9.7
607 oligohydramnios 9.7
608 leukemia 9.7
609 pancytopenia 9.7
610 gynecomastia 9.7
611 mucopolysaccharidosis iv 9.7
612 quadriplegia 9.7
613 ancylostomiasis 9.7
614 conduct disorder 9.7
615 gout 9.7
616 diarrhea 9.7
617 porphyria 9.7
618 congenital toxoplasmosis 9.7
619 ehlers-danlos syndrome 9.7
620 obstructive hydrocephalus 9.7
621 azoospermia 9.7
622 chronic closed-angle glaucoma 9.7
623 mixed gonadal dysgenesis 9.7
624 46 xx gonadal dysgenesis 9.7
625 papilledema 9.7
626 personality disorder 9.7
627 keratosis 9.7
628 ventricular septal defect 9.7
629 heart septal defect 9.7
630 duodenal ulcer 9.7
631 epilepsy 9.7
632 hyperuricemia 9.7
633 bardet-biedl syndrome 9.7
634 hyperinsulinism 9.7
635 constipation 9.7
636 ascending colon cancer 9.7
637 amelogenesis imperfecta 9.7
638 blood platelet disease 9.7
639 thrombocytosis 9.7
640 transient cerebral ischemia 9.7
641 agammaglobulinemia 9.7
642 epidermolysis bullosa 9.7
643 skin atrophy 9.7
644 bilirubin metabolic disorder 9.7
645 newcastle disease 9.7
646 periarthritis 9.7
647 food allergy 9.7
648 multiple endocrine neoplasia 9.7
649 lipomatosis 9.7
650 tracheal stenosis 9.7
651 mood disorder 9.7
652 osteitis fibrosa 9.7
653 bone inflammation disease 9.7
654 empty sella syndrome 9.7
655 thrombophlebitis 9.7
656 hypertrichosis 9.7
657 myopathy 9.7
658 polyradiculoneuropathy 9.7
659 macular retinal edema 9.7
660 pseudohypoaldosteronism 9.7
661 holoprosencephaly 9.7
662 familial retinoblastoma 9.7
663 benign ependymoma 9.7
664 epidermolysis bullosa dystrophica 9.7
665 myxopapillary ependymoma 9.7
666 gingival hypertrophy 9.7
667 cellular ependymoma 9.7
668 paraplegia 9.7
669 bronchitis 9.7
670 connective tissue disease 9.7
671 dentin dysplasia 9.7
672 thymic dysplasia 9.7
673 placenta disease 9.7
674 chronic kidney disease 9.7
675 hyperthyroidism 9.7
676 osteoarthritis 9.7
677 lung disease 9.7
678 reticulosarcoma 9.7
679 myeloid leukemia 9.7
680 neurofibromatosis 9.7
681 rubella 9.7
682 lupus erythematosus 9.7
683 lichen planus 9.7
684 homocystinuria 9.7
685 ocular hypertension 9.7
686 mechanical strabismus 9.7
687 muscular dystrophy 9.7
688 albinism 9.7
689 hyperphenylalaninemia 9.7
690 limb-girdle muscular dystrophy 9.7
691 47,xyy 9.7
692 mitochondrial disorders 9.7
693 prop1-related combined pituitary hormone deficiency 9.7
694 polymicrogyria 9.7
695 shox deficiency disorders 9.7
696 spondylocostal dysostosis, autosomal recessive 9.7
697 trichorhinophalangeal syndrome 9.7
698 12q14 microdeletion syndrome 9.7
699 athetosis 9.7
700 bowing of long bones congenital 9.7
701 cartwright nelson fryns syndrome 9.7
702 central congenital hypothyroidism 9.7
703 chromosome 10p duplication 9.7
704 chromosome 20p deletion 9.7
705 chromosome 4p deletion 9.7
706 congenital dislocation of the patella 9.7
707 congenital hydrocephalus 9.7
708 cytomegalic inclusion disease 9.7
709 dysplastic cortical hyperostosis 9.7
710 familial osteochondritis dissecans 9.7
711 granulocytopenia 9.7
712 ichthyosis linearis circumflexa 9.7
713 laryngeal cleft 9.7
714 meningoencephalocele 9.7
715 pachygyria 9.7
716 parkes weber syndrome 9.7
717 pili torti 9.7
718 precocious puberty 9.7
719 pseudo-turner syndrome 9.7
720 slipped capital femoral epiphysis 9.7
721 synovial chondromatosis 9.7
722 megalencephaly 9.7
723 neuronal migration disorders 9.7
724 seizure disorder 9.7
725 spasticity 9.7
726 audiogenic seizures 9.7
727 short rib-polydactyly syndrome 9.7
728 kenny-caffey syndrome 9.7
729 isolated split hand-split foot malformation 9.7
730 uniparental disomy of chromosome 14 9.7
731 basal encephalocele 9.7
732 primary congenital hypothyroidism 9.7
733 avascular necrosis 9.7
734 moyamoya angiopathy 9.7
735 argyria 9.7
736 b4galt7-related spondylodysplastic ehlers-danlos syndrome 9.7
737 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 9.7
738 microtia 9.7
739 central nervous system malformation 9.7
740 familial thyroid dyshormonogenesis 9.7
741 primary bone dysplasia with increased bone density 9.7
742 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 9.7
743 thyroid carcinoma 9.7
744 hyperpituitarism 9.5 GHRH GHR GH1
745 functioning pituitary adenoma 9.5 GHRH GHR GH1
746 pituitary adenoma 9.1 GHRHR GHRH GHR GH1

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

MGI Mouse Phenotypes related to Dwarfism:

45 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.02 DYM GHR GHRH GHRHR NSMCE2

Drugs & Therapeutics for Dwarfism

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

(showing 95, show less)
# 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 2180-92-9, 38396-39-3 2474
3 Imatinib Mesylate Phase 4 220127-57-1 123596
4 Hormone Antagonists Phase 4
5 Anesthetics Phase 4
6 Anesthetics, Local Phase 4
7 Antineoplastic Agents, Hormonal Phase 4
8 Contraceptive Agents Phase 4
9 Triptorelin Pamoate Phase 4
10
Letrozole Approved, Investigational Phase 3 112809-51-5 3902
11
Anastrozole Approved, Investigational Phase 3 120511-73-1 2187
12
Mannitol Approved, Investigational Phase 3 69-65-8 6251 453
13
Leuprolide Approved, Investigational Phase 3 53714-56-0 657181 3911
14
Zinc Approved, Investigational Phase 2, Phase 3 7440-66-6 32051
15
tannic acid Approved Phase 3 1401-55-4
16
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
17
Glycine Approved, Nutraceutical, Vet_approved Phase 3 56-40-6 750
18 Pharmaceutical Solutions Phase 3
19 Estrogen Antagonists Phase 3
20 Estrogen Receptor Antagonists Phase 3
21 Aromatase Inhibitors Phase 3
22 Natriuretic Peptide, C-Type Phase 3
23 Chelating Agents Phase 2, Phase 3
24 Hypoglycemic Agents Phase 3
25 Immunoglobulins Phase 3
26 Antibodies Phase 3
27
Oxandrolone Approved, Investigational Phase 2 53-39-4 5878
28
mometasone furoate Approved, Investigational, Vet_approved Phase 2 83919-23-7
29
Nicotinamide Approved, Investigational Phase 1, Phase 2 98-92-0 936
30
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
31
Folic acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
32
Niacin Approved, Investigational, Nutraceutical Phase 1, Phase 2 59-67-6 938
33
Deslorelin Investigational, Vet_approved Phase 2 57773-65-6
34 Anabolic Agents Phase 2
35 Androgens Phase 2
36 N-(2-aminoethyl)-5-isoquinolinesulfonamide Phase 2
37 Prolactin Release-Inhibiting Factors Phase 2
38 Estrogens Phase 2
39 Vitamins Phase 1, Phase 2
40 Nutrients Phase 1, Phase 2
41 Micronutrients Phase 1, Phase 2
42 Trace Elements Phase 1, Phase 2
43 Vitamin B Complex Phase 1, Phase 2
44 Hypolipidemic Agents Phase 1, Phase 2
45 Vitamin B3 Phase 1, Phase 2
46 Nicotinic Acids Phase 1, Phase 2
47 Lipid Regulating Agents Phase 1, Phase 2
48 Vasodilator Agents Phase 1, Phase 2
49 Folate Phase 1, Phase 2
50 Vitamin B9 Phase 1, Phase 2
51 Antimetabolites Phase 1, Phase 2
52 Growth Hormone-Releasing Hormone Phase 1
53
Iron Approved, Experimental 15438-31-0, 7439-89-6 27284 23925
54
Hydrocortisone Approved, Vet_approved 50-23-7 5754
55
Hydrocortisone acetate Approved, Vet_approved 50-03-3
56
Dextromethorphan Approved 125-71-3 5360696 5362449
57
Caffeine Approved 58-08-2 2519
58
Guaifenesin Approved, Investigational, Vet_approved 93-14-1 3516
59
Somatostatin Approved, Investigational 38916-34-6, 51110-01-1 53481605
60
Remifentanil Approved 132875-61-7 60815
61
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
62
Desflurane Approved 57041-67-5 42113
63
Nicotine Approved 54-11-5 942 89594
64
Epinephrine Approved, Vet_approved 51-43-4 5816
65
Glucagon Approved 16941-32-5
66
Racepinephrine Approved 329-65-7 838
67
Nitric Oxide Approved 10102-43-9 145068
68
Sodium citrate Approved, Investigational 68-04-2
69
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
70
N,N-dimethylarginine Experimental 30315-93-6 123831
71 Hydrocortisone 17-butyrate 21-propionate
72 Hydrocortisone hemisuccinate
73 Respiratory System Agents
74 Excitatory Amino Acid Antagonists
75 Phosphodiesterase Inhibitors
76 Antitussive Agents
77 Central Nervous System Stimulants
78 Neurotransmitter Agents
79 Chlorpheniramine, phenylpropanolamine drug combination
80 Natriuretic Peptide, Brain
81 Narcotics
82 Anesthetics, General
83 Analgesics, Opioid
84 Analgesics
85 Hypnotics and Sedatives
86 Anesthetics, Inhalation
87 Anesthetics, Intravenous
88 Epinephryl borate
89 Glucagon-Like Peptide 1
90 Incretins
91 Gastrointestinal Agents
92 Stevia
93
Stevioside 57817-89-7 548198
94 Citrate
95
Arginine Investigational, Nutraceutical 74-79-3 6322

Interventional clinical trials:

(showing 224, show less)
# 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 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 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
13 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
14 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
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 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 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
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 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
22 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
23 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® )
24 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
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 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
36 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®
37 Investigation of the Efficacy and Safety of NN-220 for 48 Weeks in Adults With Growth Hormone Deficiency Completed NCT00184743 Phase 3 somatropin
38 Investigation of the Efficacy and Safety of hGH in Long Term (More Than 48 Weeks) in GHDA. Completed NCT00184730 Phase 3 somatropin
39 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
40 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
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 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
44 Investigation of the Efficacy and Safety of NN-220 for 24 Weeks in Adults With Growth Hormone Deficiency Completed NCT00519558 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 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
48 A Phase III, Open-label, Uncontrolled, Multicentre, Rollover Study to Assess Safety and Efficacy of LB03002 Administered Weekly in Adults With Growth Hormone Deficiency Completed NCT00596037 Phase 3 Growth hormone - LB03002
49 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
50 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
51 A Follow-up Study to Examine the Presence of Anti-human Growth Hormone Antibodies Following a Randomised, Open-label, Parallel-group, Multi-centre Trial (FE 999905 CS07) in Which the Efficacy and Safety of 12 Months' Treatment With One Daily Dose of ZOMACTON Were Compared to One Daily Dose of GENOTROPIN Completed NCT02173821 Phase 3
52 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
53 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
54 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
55 A Phase 3 Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Completed NCT03197766 Phase 3 BMN 111;Placebo
56 A Multicentre, Multinational, Randomised, Open-labelled, Parallel-group, Active-controlled Trial to Compare the Safety of Once Weekly Dosing of Somapacitan With Daily Norditropin® FlexPro® for 26 Weeks in Previously Human Growth Hormone Treated Adults With Growth Hormone Deficiency Completed NCT02382939 Phase 3 somapacitan;somatropin
57 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®
58 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
59 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
60 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
61 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
62 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
63 A Randomised, Open-label, Parallel-group, Multi-centre Trial to Compare the Efficacy and Safety for 12 Months of Zomacton to Genotropin in Children With Idiopathic Growth Hormone Deficiency Completed NCT00884000 Phase 3 Genotropin;Zomacton
64 A Multicentre, Multinational, Randomised, Parallel-group, Placebo-controlled (Double Blind) and Active-controlled (Open) Trial to Compare the Efficacy and Safety of Once Weekly Dosing of NNC0195-0092 (Somapacitan) With Once Weekly Dosing of Placebo and Daily Norditropin® FlexPro® in Adults With Growth Hormone Deficiency for 35 Weeks, Followed by a 53-week Open-label Extension Period Completed NCT02229851 Phase 3 somapacitan;somatropin;placebo
65 Pegylated Somatropin in the Treatment of Children With Growth Hormone Deficient:A Multicenter, Randomized, Open-label, Controlled Phase Ⅲ Clinical Trial Completed NCT01495468 Phase 3
66 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
67 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
68 Effect of Weekly Zinc Chelate Supplementation on Schoolchildren's Growth: a Randomized Double-blind Controlled Trial Completed NCT01911260 Phase 2, Phase 3
69 Confirmatory Validation of Oral Macimorelin as a Growth Hormone (GH) Stimulation Test (ST) for the Diagnosis of Adult Growth Hormone Deficiency (AGHD) in Comparison With the Insulin Tolerance Test (ITT) Completed NCT02558829 Phase 3 Macimorelin;Insulin
70 A Phase III, Multicentric, Open-label, Randomised, Comparative, Parallel Group Study of (GHRH + Arginine) Combination Test vs. Insulin Tolerance Test (ITT) in the Diagnosis of Adult Growth Hormone Deficiency (AGHD) Completed NCT01060488 Phase 3
71 Efficacy and Safety of CinnaGen Recombinant Human Growth Hormone (CinnaTropin®) in Comparison With Novo Nordisk Growth Hormone (Nordilet®) Product in Pre-Pubertal Children With Idiopathic Growth Hormone Deficiency (IGHD) Completed NCT03223025 Phase 3 CinnaTropin®;Nordilet®
72 A Phase 3, Open-Label, Randomized, Multicenter, 12-month, Efficacy and Safety Study of Weekly MOD-4023 Compared to Daily Genotropin® Therapy in Japanese Pre-pubertal Children With Growth Hormone Deficiency Completed NCT03874013 Phase 3 MOD-4023;Genotropin
73 A Phase 3 Study to Evaluate the Efficacy and Safety of Recombinant Human Growth Hormone in Short Stature Children Due to Chronic Kidney Disease Before Transplantation Recruiting NCT03535415 Phase 3 Recombinant Human Growth Hormone Injection (rhGH)
74 Phase 2 Study of Efficacy and Safety of rhGH (Jintropin®) in Pediatric Participants With ISS (Idiopathic Short Stature): a 52-week Multicenter, Open-label, Randomized, Negative Controlled Study Followed by a 52-week Open-label Period Recruiting NCT03635580 Phase 3
75 The Efficacy, Safety and Tolerability of TransCon hGH Administered Weekly Versus Daily hGH in Prepubertal Children With Growth Hormone Deficiency: a Randomized, Open-lable, Active-controlled, Parallel-group Study in China Recruiting NCT04326374 Phase 3 TransCon hGH;daily hGH
76 A PHASE 3, RANDOMIZED, MULTICENTER, OPEN-LABEL, CROSSOVER STUDY ASSESSING SUBJECT PERCEPTION OF TREATMENT BURDEN WITH USE OF WEEKLY GROWTH HORMONE (SOMATROGON) VERSUS DAILY GROWTH HORMONE (GENOTROPIN (REGISTERED)) INJECTIONS IN CHILDREN WITH GROWTH HORMONE DEFICIENCY Recruiting NCT03831880 Phase 3 Genotropin;somatrogon
77 A Trial Comparing the Effect and Safety of Once Weekly Dosing of Somapacitan With Daily Norditropin® in Children With Growth Hormone Deficiency Recruiting NCT03811535 Phase 3 Somapacitan;Norditropin®
78 A Phase 3, Open-Label Long-Term Extension Study to Evaluate the Safety and Efficacy of BMN 111 in Children With Achondroplasia Active, not recruiting NCT03424018 Phase 3 BMN 111
79 A Phase 3, Open-label, Randomized, Multicenter, 12 Months, Efficacy and Safety Study of Weekly MOD-4023 Compared to Daily Genotropin - Therapy in Pre-pubertal Children With Growth Hormone Deficiency Active, not recruiting NCT02968004 Phase 3 MOD-4023;Somatropin
80 enliGHten: A Multicenter, Phase 3, Long-Term, Open-Label Trial Investigating Safety and Efficacy of TransCon hGH Administered Once-Weekly in Children With Growth Hormone Deficiency (GHD) Who Have Completed a Prior TransCon hGH Clinical Trial Active, not recruiting NCT03344458 Phase 3 TransCon hGH
81 Treatment of Growth Hormone Deficiency Associated With Chronic Heart Failure: A Randomized, Double-Blind, Placebo-Controlled Study Not yet recruiting NCT03775993 Phase 3 Human growth hormone
82 A PHASE 3, MULTICENTER STUDY DESIGNED TO EVALUATE THE EFFICACY AND SAFETY OF A LONG ACTING HGH PRODUCT (MOD-4023) IN ADULT SUBJECTS WITH GROWTH HORMONE DEFICIENCY Terminated NCT01909479 Phase 3 MOD-4023
83 A Phase 3, Multicenter, Randomized, Open-Label, Comparator-Controlled Study to Assess Safety and Tolerability of Weekly TV-1106 Compared to Daily rhGH (dGH) in Adults With Growth Hormone-Deficiency Terminated NCT02410356 Phase 3 TV-1106;dGH
84 Treatment With Recombinant Human Growth Hormone Genotonorm (Registered) in Children With Short Stature Secondary to a Long Term Corticoid Therapy. A Study of Efficacy and Safety. Terminated NCT00174187 Phase 3 Somatropin
85 A Phase IIIb, Open-label, Single-arm, Multicenter Study to Assess the Immunogenicity of the Recombinant-Human Growth Hormone (r-hGH) Liquid Multidose Formulation (Saizen® Solution for Injection) When Administered to Male and Female Adults With Documented Growth Hormone Deficiency (GHD) Terminated NCT01237340 Phase 3 Saizen®
86 A Randomized, Phase 2/3, Open-Label, Multi-center Study of the Pharmacokinetics, Pharmacodynamics, Safety and Efficacy of A Long-acting Human Growth Hormone (Somavaratan, VRS-317) in Pre-pubertal Japanese Children With Growth Hormone Deficiency (GHD) Terminated NCT02413138 Phase 2, Phase 3 Somavaratan (VRS-317)
87 An Open-Label, Long-Term Safety Study of Long-acting Human Growth Hormone Somavaratan (VRS-317) in Japanese Children With Growth Hormone Deficiency Terminated NCT03145831 Phase 3 Somavaratan
88 An Open-Label, Long-Term Safety Study of A Long-acting Human Growth Hormone Somavaratan (VRS-317) in Children With Growth Hormone Deficiency Terminated NCT02068521 Phase 2, Phase 3 somavaratan
89 Prospective, Randomized, Double Blind Placebo-Controlled Trial On The Efficacy Of Growth Hormone Replacement Therapy In Adult Patients With Isolated Growth Hormone Deficiency (PRO ISO-GHD Study) Terminated NCT00630487 Phase 3 Placebo;Somatropin
90 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Idiopathic Short Stature: A Controlled, Prospective, Randomized, Multicenter Phase-II Study With An Untreated Control Group. Unknown status NCT03221088 Phase 2 Jintrolong® low dose group;Jintrolong® high dose group
91 A Twelve Month, Phase II, Randomized, Open-Label, Multi-Center, Dose-Ranging Study of Weekly ALTU-238 (Somatropin) as Compared With Daily Nutropin AQ (Somatropin) in Prepubertal Children With Growth Hormone Deficiency Unknown status NCT00837863 Phase 2 Somatropin;Somatropin;Somatropin;Somatropin
92 A Phase 2, Open-label, Sequential Cohort Dose-escalation Study of BMN 111 in Children With Achondroplasia Completed NCT02055157 Phase 2 BMN 111
93 A 64-Week (12-week Core Phase and 52-week Safety Extension), Phase II, Multicenter, Randomized, Open Label Study to Evaluate the Safety, Tolerability and Efficacy of Weekly TV-1106 in Adults With Growth Hormone Deficiency Completed NCT01811576 Phase 2 TV-1106;Recombinant human growth hormone
94 Efficiency and Safety of Pegylated Somatropin(PEG-somatropin) in the Treatment of Children With Growth Hormone Deficiency: a Multicenter, Randomized, Open-label, Controlled Phase 2 Study Completed NCT01342146 Phase 2 pegylated Somatropin;pegylated Somatropin;Jintropin AQ
95 Phase IIb Study to Evaluate the Safety, Tolerability, Pharmacokinetic and Pharmacodynamic Profile of ARX201 Following Repeated Dosing to Young Adult Patients With Childhood Onset Growth Hormone Deficiency (GHD). Completed NCT00778518 Phase 2 ARX201;ARX201;ARX201
96 A Multicenter, Phase 2, Randomized, Open Label, Active-controlled, Parallel-group Study Investigating the Safety, Tolerability, and Efficacy of Different Dose Levels of ACP-001 Administered Once Weekly Versus Standard Daily rhGH Replacement Therapy in Pre-pubertal Children With Growth Hormone Deficiency (GHD) Completed NCT01947907 Phase 2 ACP-001;Human Growth Hormone
97 Efficacy and Safety Evaluation of Recombinant Human Growth Hormone (r-hGH), Saizen®, on a Population of Children With Hypochondroplasia, Treated Over a Period of 3 Years or 5 Years if Applicable, in Comparison With a Historic Cohort of Non-treated Children With Hypochondroplasia Completed NCT01111019 Phase 2 Recombinant human growth hormone (r-hGH)
98 A Phase I/II Crossover Study To Evaluate and Compare the Pharmacokinetics of a Single IV Dose of D-Mannitol (Osmitrol®10%) to Single and Multiple, Escalating Doses of Liquid, Oral Prodarsan™ in Patients With Cockayne Syndrome Completed NCT01142154 Phase 1, Phase 2 Prodarsan
99 A Phase 2, Multiple Dose, Open-Label, Parallel-Group, Active Controlled, Safety, Tolerability, Pharmacokinetic and Pharmacodynamic Study of ACP-001 in Adult Patients With Growth Hormone Deficiency Completed NCT01247675 Phase 2 ACP-001 (TransCon hGH);ACP-001 (TransCon hGH);ACP-001 (TransCon hGH);Omnitrope
100 A Phase II, Randomized, Active Controlled, Open Label Study of Safety and Efficacy of HM10560A a Long-acting rhGH-HMC001 Conjugate in Treatment of Subjects Suffering From Adult Growth Hormone Deficiency (AGHD) Completed NCT01822340 Phase 2 HM10560A;Genotropin
101 The Relative Effects of Androgen, Estrogen, and the Combination of Androgen and Estrogen on Growth Rate, GH Binding Protein, IGF-I, and Cognitive Function in Growth Hormone-Treated Girls With Turner Syndrome Completed NCT00001343 Phase 2 Humatrope;Oxandrolone
102 Pharmacokinetic Profiles of GH Using Two Different Administration Regimes; a Bolus and an Infusion Both With and Without Exercise, in Adults With Growth Hormone Deficiency Completed NCT01090778 Phase 2 Norditropin SimpleXx (growth hormone)
103 Correction of Growth Hormone Deficiency in Patients With Chronic Heart Failure: a Randomized, Controlled, Single-blind Study Completed NCT00591760 Phase 2 Somatotropin
104 An Open-Label, Dose Finding, International Phase 2 Study With Once Monthly Subcutaneous VRS-317 in Adult Growth Hormone Deficiency (GHD) Completed NCT02526420 Phase 2 somavaratan
105 A Long-acting Human Growth Hormone (VRS-317) in Pre-pubertal Children With Growth Hormone Deficiency: A Randomized, Open-label, Multi-center, Phase 1b/2a Study of Safety, Tolerability, Pharmacokinetics (PK), Pharmacodynamics (PD) and Efficacy After Subcutaneous Administration for 6 Months Completed NCT01718041 Phase 1, Phase 2 Experimental: VRS-317
106 A Randomized, Active-controlled, Multiple-dose, Open-label Study to Evaluate the Safety, Tolerability, and Efficacy of the Long-acting Antibody-fused Recombinant Human Growth Hormone (GX-H9) in Adult Growth Hormone Deficiency (AGHD) Completed NCT02946606 Phase 2 GX-H9;Genotropin
107 A Phase 2, Randomized, Open-label, Active Controlled, Dose Finding Study of Long-acting Hybrid Fc Fused Recombinant Human Growth Hormone (GX-H9) in Paeditaric Patients With Growth Hormone Deficiency Completed NCT03309891 Phase 2 GX-H9;Genotropin
108 Evaluation of Growth Response in Short Children Suffering From a Disease With Growth Retardation and Treated With Somatropin: A Prospective, Longitudinal Non-randomised, Open, Phase II Study Completed NCT00488124 Phase 2 somatropin (Genotropin® treatment)
109 A Double-Blind, Randomized, Placebo-Controlled Clinical Trial of Luteinizing Hormone-Releasing Hormone Analog (LHRHa) in Pubertal Patients With Extreme Short Stature Completed NCT00001190 Phase 2 Deslorelin
110 Nutrients and Hormones: Effects in Boys With Disordered Growth - Pilot Study Completed NCT00102258 Phase 2 Growth Hormone Therapy
111 A Non-inferiority Phase 2 Study to Evaluate the Safety and Efficacy of PEG-rhGH in the Treatment of Adult Growth Hormone Deficiency (AGHD) Recruiting NCT03104010 Phase 2 Somatropin Injection
112 Phase 2, Open-Label, Dose-Escalation and Dose-Expansion Study of Infigratinib, an FGFR 1-3-Selective Tyrosine Kinase Inhibitor, in Children With Achondroplasia: PROPEL 2 Recruiting NCT04265651 Phase 2 Infigratinib 0.016 mg/kg;Infigratinib 0.032 mg/kg;Infigratinib 0.064 mg/kg;Infigratinib 0.128 mg/kg
113 A Phase 2 Study Extension Period of Pegylated Somatropin (PEG-somatropin) in the Treatment of Children With Idiopathic Short Stature: An Open, Non-controlled Observational Study. Recruiting NCT03255694 Phase 2 PEG-somatropin
114 Vosoritide for Selected Genetic Causes of Short Stature Recruiting NCT04219007 Phase 2 Vosoritide
115 A Trial Investigating Efficacy and Safety of Once-weekly NNC0195-0092 (Somapacitan) Treatment Compared to Daily Growth Hormone Treatment (Norditropin® FlexPro®) in Growth Hormone Treatment naïve Pre-pubertal Children With Growth Hormone Deficiency naïve Pre-pubertal Children With Growth Hormone Deficiency Recruiting NCT02616562 Phase 2 somapacitan;Norditropin® FlexPro® pen
116 A Dose-finding Trial Evaluating the Effect and Safety of Once-weekly Treatment of Somapacitan Compared to Daily Norditropin® in Children With Short Stature Born Small for Gestational Age With no Catch-up Growth by 2 Years of Age or Older Recruiting NCT03878446 Phase 2 somapacitan;Norditropin®
117 Interventional Study of Growth Hormone Replacement Therapy in Retired Professional Football Players With Growth Hormone Deficiency Recruiting NCT04121780 Phase 2
118 A Phase 2, Open-Label, Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of BMN 111 in Children With Achondroplasia Active, not recruiting NCT02724228 Phase 2 BMN 111
119 Treatment With Recombinant Human Insulin-like Growth Factor 1 (rhIGF-1) in Patients With Pappalysin-2 (PAPP-A2) Gene Mutation. Active, not recruiting NCT02636270 Phase 1, Phase 2 Increlex
120 Clinical Characterization and Trial of Growth Hormone Treatment in Patients With Aggrecan (ACAN) Deficiency Active, not recruiting NCT03288103 Phase 1, Phase 2 Norditropin
121 A Phase 2 Open-Label Long-Term Extension Study to Evaluate the Safety and Efficacy of BMN 111 in Children With Achondroplasia Enrolling by invitation NCT03989947 Phase 2 Active BMN 111: Daily subcutaneous injection of 15 ug/kg of BMN 111
122 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Clinical Trial to Evaluate the Safety and Efficacy of BMN 111 in Infants and Young Children With Achondroplasia, Age 0 to < 60 Months Enrolling by invitation NCT03583697 Phase 2 BMN 111;Placebo
123 ACcomplisH: A Phase 2, Multicenter, Double-blind, Randomized, Placebo-controlled, Dose Escalation Trial Evaluating Safety, Efficacy, and Pharmacokinetics of Subcutaneous Doses of TransCon CNP Administered Once Weekly for 12 Months in Prepubertal Children With Achondroplasia Not yet recruiting NCT04085523 Phase 2 TransCon CNP;Placebo for TransCon CNP
124 A Double Blind Parallel Group Randomised Multiple Dose Study To Evaluate The Pharmacodynamic Response And Safety Of PHA-794428 In Adult Growth Hormone Deficient Patients Terminated NCT00308464 Phase 2 PHA-794428
125 A Double Blind, Single Dose Study To Explore The Safety, Pharmacokinetics And Pharmacodynamics Of PHA-794428 In Pediatric Patients With Growth Hormone Deficiency Terminated NCT00314938 Phase 2 PHA-794428
126 An Open-Label, Long-Term Extension Study of the Safety of Somavaratan (VRS-317) in Adults With Growth Hormone Deficiency (GHD) Terminated NCT02719990 Phase 2 somavaratan
127 Recombinant Human Growth Hormone (rhGH) and Recombinant Human Insulin-like Growth Factor-1 rhIGF-1) Combination Therapy in Children With Short Stature Associated With IGF-1 Deficiency: A Six-year, Randomized, Multi-center, Open-label, Parallel-group, Active Treatment Controlled, Dose Selection Trial Terminated NCT00572156 Phase 2 NutropinAq® (Somatropin [rDNA origin]);Increlex® (Mecasermin [rDNA origin] injection) + NutropinAq® (Somatropin [rDNA origin]);Increlex® (Mecasermin [rDNA origin] injection) + NutropinAq® (Somatropin [rDNA origin]);Increlex® (Mecasermin [rDNA origin] injection) + NutropinAq® (Somatropin [rDNA origin])
128 Free Fatty Acids, Body Weight, and Growth Hormone Secretion in Children Terminated NCT01237041 Phase 1, Phase 2 Niacin First;Placebo First;Dose-Establishing Study 1 Niacin 250mg;Dose-Establishing Study 1 Niacin 500mg;Dose-Establishing Study 2 Niacin 500mg
129 Investigation of Pharmacokinetics, Pharmacodynamics, Safety and Tolerability of Multiple Doses of Somapacitan in Subjects With Various Degrees of Impaired Renal Function Compared to Subjects With Normal Renal Function Completed NCT03186495 Phase 1 Somapacitan
130 First Human Dose Trial of NNC0195-0092 (Somapacitan) in Healthy Subjects Completed NCT01514500 Phase 1 somapacitan;placebo (somapacitan)
131 A Trial to Examine the Bioequivalence of Norditropin® Versus Genotropin® in Healthy Adult Volunteers Completed NCT01401244 Phase 1 somatropin;somatropin
132 An Open-Label Study of the Pharmacokinetics and Pharmacodynamics of Syntropin (a Human Growth Hormone) in Growth Hormone-Suppressed Healthy Volunteers Completed NCT00489294 Phase 1 Syntropin
133 Investigation of Pharmacokinetics, Pharmacodynamics, Safety and Tolerability of Multiple Doses of Somapacitan in Subjects With Mild and Moderate Degrees of Hepatic Impairment Compared to Subjects With Normal Hepatic Function Completed NCT03212131 Phase 1 Somapacitan
134 A Randomised, Open-labelled, Active-controlled, Multinational, Dose-escalation Trial Investigating Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of a Single Dose of Long-acting Growth Hormone (NNC0195-0092, Somapacitan) Compared to Daily Dosing of Norditropin® SimpleXx® in Children With Growth Hormone Deficiency Completed NCT01973244 Phase 1 somapacitan;somatropin
135 A Randomised, Open-labelled, Active-controlled, Multiple Dose, Dose Escalating, Sequential Dose Group Trial Investigating Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Once-weekly Long-acting Growth Hormone (NNC0195-0092, Somapacitan) Compared to Once-daily Norditropin NordiFlex® in Adults With Growth Hormone Deficiency Completed NCT01706783 Phase 1 somapacitan;Norditropin NordiFlex®
136 PAPP-A2 Enzyme Replacement Therapy Using Plasma Transfusion Completed NCT02412943 Phase 1
137 A Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Multiple Dose Study, to Assess Tolerability, Safety, Pharmacokinetic and Pharmacodynamic Profiles of hGH-ViaDerm™ System in Adult Subjects With Growth Hormone Deficiency Completed NCT00455260 Phase 1 hGH-ViaDerm™ System (hGH or somatropin)
138 A Blinded Placebo Controlled Single Ascending Dose Phase 1 for Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics After Subcutaneous Administration of VRS-317 in Adults With Growth Hormone Deficiency Completed NCT01359488 Phase 1 VRS-317;VRS-317;VRS-317;VRS-317;VRS-317
139 Bone Geometry, Volumetric Density, Microarchitecture and Estimated Bone Strength Assessed by High Resolution Peripheral Quantitative Computed Tomography in Patients With Adult Onset Growth Hormone Deficiency Unknown status NCT02218710
140 PREPL in Health and Disease Unknown status NCT02263781
141 Identification of New Genes Involved in the Taybi-Linder Syndrome. Unknown status NCT03222947
142 Zinc and Iron in Children With Short Stature Unknown status NCT03131349
143 Evaluation of the Effects of Growth Hormone (GH) Deficiency and Growth Hormone Replacement on Serum Fibroblast Growth Factor 21 (FGF21) Concentration in Patients With Growth Hormone Deficiency (GHD) Unknown status NCT02243852 Growth Hormone Replacement Therapy
144 Effects of Growth Hormone on Glucose and Protein Metabolism in Children With Growth Hormone Deficiency Unknown status NCT00362063 growth hormone (Nutropin)
145 Evaluation of rhGH Replacement Therapy in Patients With Pseudohypoparathyroidism Type Ia (PHP Ia) Unknown status NCT00497484 recombinant human somatotropin
146 Effects of Pegvisomant-Priming With the Glucagon Stimulation Test in Assessing GH and Cortisol Reserve in Adults: a Randomized Proof-of-Concept Pilot Study Unknown status NCT01804413 Pegvisomant;Regular insulin
147 Bone Mineral Density in Adolescent Subjects With Growth Hormone Deficiency Who Are Completing Treatment With Nutropin AQ, Nutropin, or Protropin in the National Cooperative Growth Study (NCGS) Completed NCT00097526
148 National Cooperative Growth Study (NCGS) of Optimal Nutropin AQ and Nutropin Dosing in Pubertal Growth Hormone-Deficient (GHD) Subjects Completed NCT00097513
149 Study of the Molecular Basis of the Growth Axis Among Short Stature Children Completed NCT00453245
150 The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII). Completed NCT03139903
151 Non-interventional Study With ZOMACTON in Children With Growth Hormone Deficiency Completed NCT01365351
152 Simultaneous Lengthening of Bilateral Femora and Tibiae in Achondroplastic Patients Completed NCT01328418
153 Registry of Patients Being Treated With Norditropin®, Recombinant Human Growth Hormone Completed NCT01009905 somatropin
154 Assessing the Minimal Important Difference (MID) of the Treatment Related Impact Measure-Adult Growth Hormone Deficiency (TRIM-AGHD) Completed NCT02005198
155 Drug Use Investigation of GENOTROPIN for GHD-ADULTS. Completed NCT00601419 Somatropin
156 Validation of Two Measures for Growth Hormone Deficiency in Children, the Treatment Related Impact Measure of Childhood Growth Hormone Deficiency (TRIM-CGHD) and the Treatment Burden Measure of Childhood Growth Hormone Deficiency (TB-CGHD) Completed NCT02580032
157 AN INVESTIGATION INTENDED TO EVALUATE THE LONG-TERM EFFICACY AND SAFETY OF GENOTROPIN IN CHILDREN WITH SGA DWARFISM WITHOUT EPIPHYSEAL CLOSURE. (RETROSPECTIVE STUDY) Completed NCT01897766 Somatropin
158 D3-Growth Hormone Receptor Polymorphism and Total Effect of Recombinant Human Growth Hormone on Growth in Girls With Turner Syndrome Completed NCT00443144 recombinant human growth hormone
159 A Multicentre, Open Label, Observational, Non-interventional Study to Evaluate the Long-term Safety and Efficacy of Norditropin® Formulation in Patients With AGHD Completed NCT01109017 somatropin
160 Study of Pituitary Size and Function in Familial Dwarfism of Sindh Completed NCT00004365
161 Descriptive, Cross-sectional and Prospective Epidemiology Study, on the Identification of Insulin-like Growth Factor-1 Status in Idiopathic Short Stature Children (EPIGROW Study) Completed NCT00710307
162 Prospective, Longitudinal and National Follow-up Program of Adult Patients With Somatotropic Hormone Deficiency for Whom Substituting Treatment by Norditropin SimpleXx Was Started Completed NCT01580605 somatropin
163 Insulin Sensitivity and Substrate Metabolism Before and After Treatment in Patients With Growth Hormone Deficiency Completed NCT00646815 growth hormone (genotropin)
164 Recombinant Human Growth Hormone Therapy and Drug Metabolism Completed NCT00458991 Dextromethorphan and Caffeine
165 SWEGHO - A PROSPECTIVE NON INTERVENTIONAL STUDY PROTOCOL WITH PRIMARY DATA COLLECTION - ASSESSMENT OF THE LONG TERM TREATMENT OUTCOMES OF GENOTROPIN TREATMENT IN GHD PATIENTS IN SWEDEN Completed NCT01947894
166 Impact of Growth Hormone on Serum N-Terminal Pro-B-Type Natriuretic Peptide (NT-proBNP) and on Cardiac Function and Morphology Evaluated by Magnetic Resonance Imaging in Growth Hormone Deficiency and Acromegaly Completed NCT00970463
167 NordiNet® International Outcome Study-Observational Prospective Study on Patients Treated With Norditropin® Completed NCT00960128 somatropin;somatropin
168 A Multicentre, Open Label, Observational, Non-interventional Study to Evaluate on Long-term Safety and Efficacy of Norditropin® Formulation in Patients With SGA Short Stature Without Closure of Epiphyseal Discs Completed NCT01110928 somatropin
169 A Multicentre, Open Label, Non-interventional Study to Evaluate on Long-term Safety and Efficacy of Norditropin® Formulation in Child Patients With GHD or Turner Short Stature Without Closure of Epiphyseal Discs. Completed NCT01604161 somatropin
170 C-Type Natriuretic Peptide and Achondroplasia Completed NCT01541306
171 Effect of Anesthesia on Quality of Recovery in Patients Undergoing Correctional Tibial Osteotomy - A Randomized Controlled Trial Completed NCT02826902 propofol and remifentanil;desflurane and remifentanil
172 The Insulin-Like Growth Factor Binding Protein-3 Test: A New Tool for the Diagnosis of Growth Hormone Deficiency in Children. Completed NCT00235599
173 The Genetics and Neuroendocrinology of Short Stature International Study (GeNeSIS) Completed NCT01088412 Somatropin (recombinant deoxyribonucleic acid [rDNA] origin)
174 Ghrelin Levels in Children With Gastrointestinal Symptoms and/or Poor Growth Completed NCT01070173
175 Observational Longitudinal Study in Children Affected by Idiopathic Growth Hormone Deficiency (GHD): Lung Function Parameters Assessment; Quality of Life Assessment; Stress Parenting Assessment (Pneumo GHD) Completed NCT02507245 Growth Hormone-Releasing Hormone
176 Randomized Study of Growth Hormone on Bone Mineral Density in Patients With Adult Onset Growth Hormone Deficiency Completed NCT00006394 growth hormone
177 Diagnosis of Adult Growth Hormone Deficiency With Growth Hormone Releasing Hormone Plus Arginine Stimulation Test Completed NCT03018886
178 Clinical and Molecular Manifestations of Human Skeletal Dysplasias and Short Stature Completed NCT00001754
179 Issues Surrounding Prenatal Genetic Testing for Achondroplasia Completed NCT00001536
180 Observational Study on Prevalence and Prognostic Value of Growth Hormone Deficiency in Patients With Chronic Heart Failure Completed NCT00511927
181 Pharmacodynamics of C-Type Natriuretic Peptide During Growth Hormone Treatment in Children: A Potential Biomarker of Efficacy Completed NCT01504802
182 Comparison Between Euglycemic Hyperinsulinemic Clamp and Surrogate Indexes of Insulin Sensitivity in Children With Growth Hormone Deficiency. Completed NCT03525171
183 Study of the Molecular Basis in the Pathophysiology of Food Intake and Growth in Children Completed NCT00830141
184 Effects of Growth Hormone Treatment on Eating Regulation and Comparison Between the Growth Responses With or Without Nutritional Intervention in Short Stature Children Completed NCT00562705
185 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Morquio Disease Completed NCT03872713
186 Consequence of Lifetime Isolated Growth Hormone Deficiency Completed NCT00149708 growth hormone administration for 6 months
187 The Diagnostic Accuracy of the Glucagon Stimulation Test for Evaluation of Adult Growth Hormone Deficiency and the Hypothalamic-Pituitary-Adrenal Axis Completed NCT01282164
188 An Observational Phase IV Study for Prospective Follow-up to Adult Height of a Cohort of Subjects Born Small for the Gestational Age and Treated With Growth Hormone Completed NCT01196156
189 Gender-Specific Effects of Physiologic GH Administration on Cardiovascular Risk Factors in Women With Growth Hormone Deficiency Completed NCT00136032 Somatropin;Placebo
190 Effects of Physiologic Growth Hormone Administration on Cardiovascular Risk in Subjects With Growth Hormone Deficiency Following Cure of Acromegaly Completed NCT00182091 Recombinant human growth hormone;Saline
191 Prospective Clinical Assessment Study in Children With Achondroplasia: The PROPEL Trial Recruiting NCT04035811
192 ACHieve: A Multi-center, Longitudinal, Observational Study of Children With Achondroplasia Recruiting NCT03875534
193 An Open, Multi-center, Prospective and Retrospective Observational Study to Evaluate the Long-term Safety and Effectiveness of Growth Hormone (Eutropin Inj. / Eutropin Plus Inj.) Treatment With GHD, TS, CRF, SGA and ISS in Children Recruiting NCT01604395
194 Validation of the Dosage of Asymmetric Dimethylarginine (ADMA) Plasma in the Assessment of Endothelial Dysfunction During Growth Hormone Deficiency and Intrauterine Growth Retardation Recruiting NCT03422081
195 Recombinant Human Growth Hormone (GH): Effects on Metabolic Profile, Body Composition and Skeletal Muscle Strength and Function in Pre-pubertal Short Boys With and Without GH Deficiency Recruiting NCT04020913 Somatropin injection
196 Effect of Nutritional Formula Supplementation on Growth Rate of Growth Hormone (GH) Treated Children With Growth Hormone Deficiency (GHD) After the Second Year of Therapy- a Randomized Double Blind, Placebo Controlled Trial Recruiting NCT03053687
197 Fitness Level in Short Stature Children and After Growth Hormone Treatment Recruiting NCT02977091
198 Bone Age Assessment in Children Using Ultrasound Compared to Wrist X-ray Recruiting NCT03123003
199 Growth Hormone Secretion Following the Anaerobic Exercise Recruiting NCT01934270
200 Natural History of Atypical Morquio A Disease: a 5-years Prospective Study in a Series of 9 Adult Patients Followed in a Single Expert Center Recruiting NCT03204370 Elosulfase Alfa 1 MG/ML Intravenous Solution [VIMIZIM]
201 Genetic Causes of Growth Disorders Recruiting NCT02311322
202 The Impact of the Use of Recombinant Human Growth Hormone on Attention Hyperactivity Deficit Characteristics in Children and Adolescents Recruiting NCT02973061
203 A Natural History of the Collagen-Related Disorder Osteogenesis Imperfecta and the Genotype-Phenotype Correlation Recruiting NCT03575221
204 Application of Web-based Adherence Information Integrated Nurse-led Monitoring Clinic for Growth Hormone Treatment in Children Recruiting NCT04244123
205 Development and Validation of a Novel Self-assessment System Based on a Mobile App to Manage Adult Growth Hormone Deficiency (MAGHD App): a Single-Centre Model. GrASS (Growth Hormone Deficiency in Adults Self-assessment System) Recruiting NCT03525587
206 Double Blind, Randomized , Placebo Controlled Study to Evaluate the Effect of Nutritional Supplementation on Growth of Short and Lean Adolescents Boys Active, not recruiting NCT02389803
207 Biomarker for Morquio Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT01457456
208 A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia Enrolling by invitation NCT01603095
209 Post Marketing Surveillance on Long-term Use With Norditropin® (Short Stature Due to Noonan Syndrome) Enrolling by invitation NCT03435627 Somatropin
210 A Non-interventional, Prospective Study in Germany to Investigate the Influence of Adherence to Growth Hormone Therapy (GHT) With Norditropin® on Near Final Height in a Patient Population With Isolated Growth Hormone Deficiency (GHD) and Born Small for Gestational Age (SGA) Enrolling by invitation NCT03972345 Norditropin® FlexPro®
211 Fetal Growth Pattern in Short Stature Women as a Model for True Intrauterine Growth Restriction Prediction. Not yet recruiting NCT04213443
212 Genetic Analysis Coupled to Application of Isotopic Techniques to the Study of Mauriac Syndrome Not yet recruiting NCT04275141
213 Nutritional Stimulation of Growth in Children With Short Stature Without Growth Hormone Deficiency Not yet recruiting NCT04226586
214 Neuropsychological Assessment of Children and Adolescents With Turner Syndrome Not yet recruiting NCT03812913
215 Nutritional Assessment of Children With End Stage Renel Disease(ESRD) on Regular Hemodialysis Not yet recruiting NCT04177368
216 Differential Effects of rhGH vs. rhIGF-1 on Cardiovascular Risk Factors in Adult Patients With Growth Hormone Deficiency Terminated NCT00684957 Recombinant Human Growth Hormone;Recombinant human IGF-1
217 Assessment of Cardiovascular Risk Markers in GH Deficient Patients With Nonsecreting Pituitary Adenomas Terminated NCT00720902 Growth hormone releasing hormone (GHRH) and arginine
218 Growth Hormone and Insulin Resistance in Girls With Turner Syndrome or Idiopathic Short Stature Terminated NCT00121875 somatropin (rDNA)
219 Constructing an Insulin-Like Growth Factor-based Prediction Model Terminated NCT00263445
220 A Study of the Relationship Between Serum Growth Hormone (GH) and Insulin-Like Growth Factor One (IGF-I) in Patients With Severe Adult Growth Hormone Deficiency (AGHD) Terminated NCT00468624 pegvisomant/placebo loading dose 80mg sc, thereafter 20mg daily for 2 weeks
221 The Role of Igf-1 Generation Test in Diagnosis and Treatment of Short Stature Withdrawn NCT01970800 Growth Hormone
222 Non-interventional, Observational Study of the Application of Zomacton® in the Treatment of Growth Hormone Deficiency in Routine Clinical Practice Withdrawn NCT01731028 Somatropin
223 Long Term Effects of Nutritional Supplementation on Final Height of Short and Lean Adolescents: Follow-up Study to One-year Double-blind, Randomized, Placebo Controlled Studies to Evaluate the Effect of Nutritional Supplementation on Growth of Short and Lean Adolescent Boys and Girls Withdrawn NCT03323177
224 Increlex Treatment of Children With Chronic Liver Disease and Short Stature Withdrawn NCT01314508 Increlex

Search NIH Clinical Center for Dwarfism

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


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, Testes, Kidney, Thyroid, Brain, Heart

Publications for Dwarfism

Articles related to Dwarfism:

(showing 4526, show less)
# Title Authors PMID Year
1
Cognitive outcome in congenital central hypothyroidism: a systematic review with meta-analysis of individual patient data. 42
31961799 2020
2
Cockayne syndrome group A and B proteins function in rRNA transcription through nucleolin regulation. 42
31970402 2020
3
Performance in motor, communicative and cognitive skills of girls with congenital hypothyroidism treated from the neonatal period. 42
32049153 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. 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. 61 54
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. 61 54
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. 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
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. 61 54
18404972 2008
18
The GH-IGF1 axis and longevity. The paradigm of IGF1 deficiency. 61 54
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. 61 54
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. 61 54
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? 61 54
17410470 2007
26
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 61 54
16912704 2006
27
Dexamethasone stimulates expression of C-type Natriuretic Peptide in chondrocytes. 61 54
17116261 2006
28
Neutron diffraction studies of fluid bilayers with transmembrane proteins: structural consequences of the achondroplasia mutation. 61 54
16950849 2006
29
Mendelian diseases and conditions in Croatian island populations: historic records and new insights. 61 54
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. 61 54
16634636 2006
32
Aspects of achondroplasia in the skulls of dwarf transgenic mice: a cephalometric study. 54 61
16463380 2006
33
Stanniocalcin 1 acts as a paracrine regulator of growth plate chondrogenesis. 54 61
16377640 2006
34
Natriuretic peptides, their receptors, and cyclic guanosine monophosphate-dependent signaling functions. 54 61
16291870 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. 61 54
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
FGF2 inhibits proliferation and alters the cartilage-like phenotype of RCS cells. 61 54
15194433 2004
44
SHOX mutations in a family and a fetus with Langer mesomelic dwarfism. 61 54
15214013 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. 61 54
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
51
Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasia. 54 61
12792737 2003
52
The Impact of congenital, severe, untreated growth hormone (GH) deficiency on bone size and density in young adults: insights from genetic GH-releasing hormone receptor deficiency. 54 61
12788864 2003
53
A network of transcriptional and signaling events is activated by FGF to induce chondrocyte growth arrest and differentiation. 61 54
12821644 2003
54
Molecular basis for the treatment of achondroplasia. 54 61
14671399 2003
55
Mouse models orthologous to FGFR3-related skeletal dysplasias. 61 54
12687892 2003
56
Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders. 61 54
12461689 2002
57
Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism. 61 54
12424440 2002
58
The bovine fibroblast growth factor receptor 3 (FGFR3) gene is not the locus responsible for bovine chondrodysplastic dwarfism in Japanese brown cattle. 54 61
12354143 2002
59
Issues surrounding prenatal genetic testing for achondroplasia. 54 61
12378581 2002
60
Interaction of FGF, Ihh/Pthlh, and BMP signaling integrates chondrocyte proliferation and hypertrophic differentiation. 61 54
12361605 2002
61
Chondrodysplasia of gene knockout mice for aggrecan and link protein. 61 54
12975605 2002
62
Differential activation of cysteine-substitution mutants of fibroblast growth factor receptor 3 is determined by cysteine localization. 61 54
12009017 2002
63
Apoptosis of granulosa cells and female infertility in achondroplastic mice expressing mutant fibroblast growth factor receptor 3G374R. 61 54
11518810 2001
64
Localisation of the SRY-related HMG box protein, SOX9, in rodent brain. 54 61
11430871 2001
65
STAT1 mediates the increased apoptosis and reduced chondrocyte proliferation in mice overexpressing FGF2. 61 54
11493533 2001
66
Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice. 54 61
11406607 2001
67
Absence of functional type 1 parathyroid hormone (PTH)/PTH-related protein receptors in humans is associated with abnormal breast development and tooth impaction. 61 54
11297619 2001
68
A Ser(365)-->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia. 61 54