MCID: SCL052
MIFTS: 61

Scleroderma, Familial Progressive

Categories: Bone diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Scleroderma, Familial Progressive

MalaCards integrated aliases for Scleroderma, Familial Progressive:

Name: Scleroderma, Familial Progressive 56
Systemic Sclerosis 56 74 58 36 32
Systemic Scleroderma 58 71
Systemic Sclerosis, Susceptibility to 56
Sclerosis Systemic 54
Crest Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
systemic sclerosis
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-5/10000 (Europe),1-9/100000 (Taiwan, Province of China); Age of onset: Adult; Age of death: adult;

OMIM:

56
Inheritance:
autosomal dominant form


HPO:

31
scleroderma, familial progressive:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Rare respiratory diseases
Rare systemic and rhumatological diseases
Rare skin diseases


Summaries for Scleroderma, Familial Progressive

KEGG : 36 Systemic sclerosis (scleroderma) is an autoimmune disease that is characterized by fibrosis of the skin and major internal organs. The core symptoms of this disease are Raynaud's phenomenon, skin thickening, Nail-fold capillary, and serum autoantibody production. Systemic sclerosis can manifest as either the diffuse or the limited variant, distinguished by the degree and the extent of cutaneous sclerosis. A highly variable clinical course exists that spans from mild and subtle findings to aggressive life-threatening multisystem disease. Anti-nuclear antibodies (ANA) are present in more than 90% of patients, and these ANA react against various intracellular components. However, one patient rarely has two or more types of ANA. The particular ANA types are often indicative of clinical features, disease course and overall severity. At present, there is no treatment that has been proven to modify the overall disease course, but therapy that targets specific organ involvement early before irreversible damage occurs does improve both quality of life and survival. Although the precise pathogenesis of this disease remains unknown, the consensus is that it is triggered in genetically-susceptible individuals by exposure to specific environmental agents.

MalaCards based summary : Scleroderma, Familial Progressive, also known as systemic sclerosis, is related to diffuse cutaneous systemic sclerosis and limited scleroderma, and has symptoms including pruritus, exanthema and hidebound skin. An important gene associated with Scleroderma, Familial Progressive is CCN2 (Cellular Communication Network Factor 2), and among its related pathways/superpathways are Phospholipase-C Pathway and Binding and Uptake of Ligands by Scavenger Receptors. The drugs Macitentan and Tadalafil have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and endothelial, and related phenotypes are arthritis and fatigue

OMIM : 56 Systemic sclerosis is a clinically heterogeneous connective tissue disorder characterized by immune activation, vascular damage, and fibrosis of the skin and major internal organs. Clinical and experimental data suggest that the disorder is multifactorial, involving both genetic and environmental factors (Fonseca et al., 2007). Gabrielli et al. (2009) provided a detailed review of scleroderma, including clinical manifestations and pathophysiology. See also Reynolds syndrome (613471), which shares some clinical features with scleroderma and CREST syndrome. (181750)

Wikipedia : 74 Systemic scleroderma, or systemic sclerosis, is an autoimmune rheumatic disease characterised by... more...

Related Diseases for Scleroderma, Familial Progressive

Diseases in the Systemic Scleroderma family:

Scleroderma, Familial Progressive Localized Scleroderma

Diseases related to Scleroderma, Familial Progressive via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1015, show less)
# Related Disease Score Top Affiliating Genes
1 diffuse cutaneous systemic sclerosis 34.4 FBN1 CCN2
2 limited scleroderma 33.1 TOP1 FBL EDN1 CENPB CCN2
3 crest syndrome 32.3 TOP1 FBL CENPB
4 pulmonary hypertension, primary, 1 31.5 EDN1 BMP6
5 pulmonary fibrosis 30.6 EDN1 COL1A1 CCN2 BMP6
6 localized scleroderma 30.6 COL1A1 CCN2 BMP6
7 systemic scleroderma 30.5 TOP1 FBN1 FBL EDN1 COL1A2 CENPB
8 raynaud disease 30.5 TOP1 EDN1 CENPB
9 diffuse scleroderma 30.3 FBL EDN1 COL1A2 COL1A1 CENPB CCN2
10 telangiectasis 30.2 TOP1 FBN1 FBL CENPB BMP6
11 nephrogenic systemic fibrosis 30.1 EDN1 CCN2
12 keloid disorder 30.0 CD36 BMP6
13 dyskinesia of esophagus 30.0 TOP1 FBL CENPB
14 collagen disease 29.6 FBN1 COL1A2 COL1A1
15 hypertrophic scars 29.4 CD36 BMP6
16 intraocular pressure quantitative trait locus 29.2 FBN1 EDN1 CCN2
17 renal fibrosis 29.1 CD36 CCN2 BMP6
18 stiff skin syndrome 29.1 FBN1 COL1A2 CCN2
19 pulmonary fibrosis, idiopathic 29.0 EDN1 COL1A2 COL1A1 CCN2 BMP6
20 spinal stenosis 28.5 COL1A2 COL1A1
21 pelvic organ prolapse 28.5 FBN1 COL1A2 COL1A1 CD36
22 orthostatic intolerance 28.2 FBN1 EDN1 COL1A2 COL1A1
23 hypertrophic cardiomyopathy 28.1 EDN1 COL1A2 COL1A1 CD36
24 osteoporosis 28.0 EDN1 COL1A2 COL1A1 CD36 BMP6
25 marfan syndrome 27.7 FBN1 COL1A2 COL1A1 CD36 BMP6
26 connective tissue disease 27.6 TOP1 FBN1 FBL EDN1 COL1A2 COL1A1
27 pulmonary systemic sclerosis 12.5
28 reynolds syndrome 11.6
29 mixed connective tissue disease 11.4
30 gastric antral vascular ectasia 11.4
31 eosinophilic fasciitis 11.4
32 adrenoleukodystrophy 11.4
33 raynaud phenomenon 11.1
34 hemolytic uremic syndrome, atypical 1 11.0
35 telangiectasia, hereditary hemorrhagic, type 4 11.0
36 interstitial lung disease 11.0
37 lung disease 11.0
38 autoimmune disease 11.0
39 pulmonary hypertension 10.9
40 scleredema adultorum 10.8
41 calcinosis 10.8
42 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.7
43 systemic lupus erythematosus 10.7
44 vascular disease 10.6
45 enthesopathy 10.6
46 fibrosis of extraocular muscles, congenital, 1 10.6
47 dysphagia 10.6
48 myositis 10.6
49 dermatomyositis 10.6
50 lupus erythematosus 10.5
51 polymyositis 10.5
52 gastroesophageal reflux 10.5
53 skin disease 10.5
54 vasculitis 10.5
55 myopathy 10.5
56 primary biliary cirrhosis 10.5
57 esophagitis 10.4
58 cytokine deficiency 10.4
59 hemopericardium 10.4
60 pericardial effusion 10.4
61 rheumatoid arthritis 10.4
62 sarcoidosis 1 10.4
63 neuropathy 10.4
64 overgrowth syndrome 10.4
65 pericarditis 10.4
66 glomerulonephritis 10.4
67 graft-versus-host disease 10.4
68 constipation 10.4
69 hypothyroidism 10.4
70 acroosteolysis 10.3
71 plica syndrome 10.3
72 synovitis 10.3
73 tricuspid valve insufficiency 10.3
74 liver cirrhosis 10.3
75 systemic autoimmune disease 10.3
76 kidney disease 10.3
77 thyroiditis 10.3
78 peripheral vascular disease 10.3
79 impotence 10.3
80 intestinal pseudo-obstruction 10.3
81 pneumatosis cystoides intestinalis 10.3
82 myocarditis 10.3
83 respiratory failure 10.3
84 acute kidney failure 10.3
85 silicosis 10.3
86 nonspecific interstitial pneumonia 10.3
87 autonomic dysfunction 10.3
88 bone resorption disease 10.3
89 pneumonia 10.3
90 cutaneous sclerosis 10.3
91 thrombocytopenia 10.3
92 congestive heart failure 10.3
93 antiphospholipid syndrome 10.2
94 cholecystolithiasis 10.2 CCN2 BMP6
95 diarrhea 10.2
96 arthropathy 10.2
97 chronic graft versus host disease 10.2
98 hemolytic anemia 10.2
99 dowling-degos disease 1 10.2
100 peptic esophagitis 10.2
101 sjogren syndrome 10.2
102 atherosclerosis susceptibility 10.2
103 deficiency anemia 10.2
104 peripheral nervous system disease 10.2
105 47,xyy 10.2
106 undifferentiated connective tissue disease 10.2
107 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.2
108 arthritis 10.2
109 nontuberculous mycobacterial lung disease 10.2 FBN1 BMP6
110 barrett esophagus 10.2
111 malignant hypertension 10.2
112 fasciitis 10.2
113 atrial standstill 1 10.2
114 neutropenia 10.2
115 crescentic glomerulonephritis 10.2
116 amyloidosis 10.2
117 anca-associated vasculitis 10.2
118 pulmonary venoocclusive disease 1, autosomal dominant 10.1
119 sexual disorder 10.1
120 hepatic veno-occlusive disease 10.1
121 rickets 10.1
122 purpura 10.1
123 pulmonary venoocclusive disease 10.1
124 tenosynovitis 10.1
125 progressive familial heart block, type ia 10.1
126 carpal tunnel syndrome 10.1
127 multiple sclerosis 10.1
128 hashimoto thyroiditis 10.1
129 portal hypertension 10.1
130 bronchiectasis 10.1
131 hypereosinophilic syndrome 10.1
132 cardiac conduction defect 10.1
133 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.1
134 exanthem 10.1
135 lymphoma 10.1
136 heart disease 10.1
137 autoimmune hepatitis 10.1
138 adenocarcinoma 10.1
139 microvascular complications of diabetes 3 10.1 CCN2 BMP6
140 proteasome-associated autoinflammatory syndrome 1 10.1
141 progressive familial heart block, type ib 10.1
142 nephrotic syndrome 10.1
143 right bundle branch block 10.1
144 polyneuropathy 10.1
145 idiopathic interstitial pneumonia 10.1
146 esophageal disease 10.1
147 end stage renal disease 10.1
148 diffuse alveolar hemorrhage 10.1
149 idiopathic hypercalciuria 10.1 EDN1 BMP6
150 psoriatic arthritis 10.1
151 renal hypertension 10.1
152 cardiac tamponade 10.1
153 graves' disease 10.1
154 pancytopenia 10.1
155 iron metabolism disease 10.1
156 lipid metabolism disorder 10.1
157 gastritis 10.1
158 pustulosis of palm and sole 10.1
159 psoriasis 10.1
160 ocular cicatricial pemphigoid 10.1 CD36 CCN2
161 spondyloarthropathy 1 10.0
162 inflammatory spondylopathy 10.0
163 keratoconjunctivitis sicca 10.0
164 cryoglobulinemia 10.0
165 bronchiolitis 10.0
166 spondylitis 10.0
167 cerebrovascular disease 10.0
168 b-cell lymphoma 10.0
169 pulmonary embolism 10.0
170 hernia, hiatus 10.0
171 varicose veins 10.0
172 myasthenia gravis 10.0
173 thrombosis 10.0
174 covid-19 10.0
175 osteomyelitis 10.0
176 thrombotic thrombocytopenic purpura 10.0
177 encephalopathy 10.0
178 thrombotic microangiopathy 10.0
179 breast cancer 10.0
180 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0
181 helicobacter pylori infection 10.0
182 dermatitis, atopic 10.0
183 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0
184 bone mineral density quantitative trait locus 8 10.0
185 bone mineral density quantitative trait locus 15 10.0
186 colitis 10.0
187 pre-eclampsia 10.0
188 autonomic neuropathy 10.0
189 gout 10.0
190 keratosis 10.0
191 hepatitis 10.0
192 sensory peripheral neuropathy 10.0
193 fibromyalgia 10.0
194 hyperthyroidism 10.0
195 crohn's disease 10.0
196 achalasia 10.0
197 keratoconjunctivitis 10.0
198 acute myocardial infarction 10.0
199 cholangitis 10.0
200 banti's syndrome 10.0
201 linear scleroderma 10.0
202 splenomegaly 10.0
203 depression 10.0
204 discoid lupus erythematosus 10.0
205 melorheostosis 10.0 CD36 BMP6
206 hypermobile ehlers-danlos syndrome 10.0 FBN1 COL1A1
207 tricuspid valve disease 10.0 FBN1 EDN1
208 inclusion body myositis 10.0
209 trigeminal neuralgia 10.0
210 volvulus of midgut 10.0
211 myeloma, multiple 10.0
212 retinitis pigmentosa 11 10.0
213 bone mineral density quantitative trait locus 3 10.0
214 anxiety 10.0
215 myocardial infarction 10.0
216 cyanosis, transient neonatal 10.0
217 membranous nephropathy 10.0
218 hyperprolactinemia 10.0
219 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
220 angina pectoris 10.0
221 atrioventricular block 10.0
222 sensorineural hearing loss 10.0
223 osteonecrosis 10.0
224 esophageal varix 10.0
225 iron deficiency anemia 10.0
226 gastroparesis 10.0
227 allergic hypersensitivity disease 10.0
228 candidiasis 10.0
229 bronchiolitis obliterans 10.0
230 liver disease 10.0
231 juvenile rheumatoid arthritis 10.0
232 herpes zoster 10.0
233 ulcerative colitis 10.0
234 48,xyyy 10.0
235 microscopic polyangiitis 10.0
236 hypoxia 10.0
237 syncope 10.0
238 avascular necrosis 10.0
239 skeletal muscle disease 10.0
240 thyroid carcinoma 10.0
241 leukemia 9.9
242 glaucoma, primary open angle 9.9 FBN1 EDN1 CCN2
243 amyotrophic lateral sclerosis 1 9.9
244 arteries, anomalies of 9.9
245 esophageal cancer 9.9
246 hypercholesterolemia, familial, 1 9.9
247 lichen sclerosus et atrophicus 9.9
248 thrombophilia due to thrombin defect 9.9
249 celiac disease 1 9.9
250 lymphoma, hodgkin, classic 9.9
251 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
252 pulmonary disease, chronic obstructive 9.9
253 juvenile arthritis 9.9
254 lipoprotein quantitative trait locus 9.9
255 inflammatory bowel disease 9.9
256 small cell carcinoma 9.9
257 limb ischemia 9.9
258 xerophthalmia 9.9
259 bacterial infectious disease 9.9
260 megacolon 9.9
261 mitral valve insufficiency 9.9
262 dilated cardiomyopathy 9.9
263 panniculitis 9.9
264 pneumothorax 9.9
265 hepatitis c 9.9
266 lateral sclerosis 9.9
267 dermatitis 9.9
268 rapidly progressive glomerulonephritis 9.9
269 lymphopenia 9.9
270 severe combined immunodeficiency 9.9
271 extrinsic allergic alveolitis 9.9
272 ileus 9.9
273 neuromyelitis optica 9.9
274 pemphigus 9.9
275 nodular regenerative hyperplasia 9.9
276 aneurysm 9.9
277 paraneoplastic syndromes 9.9
278 paresthesia 9.9
279 diabetic angiopathy 9.9 EDN1 BMP6
280 cryoglobulinemia, familial mixed 9.9
281 pneumothorax, primary spontaneous 9.9
282 lung cancer 9.9
283 moyamoya disease 1 9.9
284 myelofibrosis 9.9
285 ataxia and polyneuropathy, adult-onset 9.9
286 homocysteinemia 9.9
287 lymphoma, non-hodgkin, familial 9.9
288 body mass index quantitative trait locus 1 9.9
289 muscle hypertrophy 9.9
290 hyperlipoproteinemia, type iii 9.9
291 aspiration pneumonia 9.9
292 peripheral artery disease 9.9
293 venous insufficiency 9.9
294 pneumoconiosis 9.9
295 anthracosis 9.9
296 disseminated intravascular coagulation 9.9
297 nephrosclerosis 9.9
298 mononeuropathy 9.9
299 eclampsia 9.9
300 frozen shoulder 9.9
301 capillary leak syndrome 9.9
302 root resorption 9.9
303 urticaria 9.9
304 squamous cell carcinoma 9.9
305 mononeuritis multiplex 9.9
306 hyperuricemia 9.9
307 bursitis 9.9
308 myelitis 9.9
309 ischemia 9.9
310 skin carcinoma 9.9
311 acute myocarditis 9.9
312 coronary stenosis 9.9
313 radiculopathy 9.9
314 bronchiolo-alveolar adenocarcinoma 9.9
315 intestinal disease 9.9
316 eye disease 9.9
317 intestinal obstruction 9.9
318 bullous pemphigoid 9.9
319 diabetes mellitus 9.9
320 pathologic nystagmus 9.9
321 polyarteritis nodosa 9.9
322 alopecia 9.9
323 hypoglycemia 9.9
324 homologous wasting disease 9.9
325 transverse myelitis 9.9
326 back pain 9.9
327 cytomegalovirus infection 9.9
328 pulmonary arterial hypertension associated with another disease 9.9
329 gingival fibromatosis 9.8 EDN1 CD36 CCN2
330 gingival overgrowth 9.8 EDN1 CD36 CCN2
331 cardiac arrhythmia 9.8
332 lymphoma, mucosa-associated lymphoid type 9.8
333 renal cell carcinoma, nonpapillary 9.8
334 leukemia, chronic lymphocytic 9.8
335 visceral myopathy 9.8
336 pemphigus vulgaris, familial 9.8
337 temporal arteritis 9.8
338 takayasu arteritis 9.8
339 leprosy 3 9.8
340 cervical cancer 9.8
341 hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy 9.8
342 coronary heart disease 1 9.8
343 major depressive disorder 9.8
344 aplastic anemia 9.8
345 lung cancer susceptibility 3 9.8
346 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.8
347 peyronie's disease 9.8
348 angiosarcoma 9.8
349 hemorrhagic cystitis 9.8
350 collagenous colitis 9.8
351 cardiac arrest 9.8
352 hypogonadotropic hypogonadism 9.8
353 left bundle branch hemiblock 9.8
354 sialadenitis 9.8
355 hypoparathyroidism 9.8
356 gingival recession 9.8
357 pulmonary edema 9.8
358 low compliance bladder 9.8
359 hemolytic-uremic syndrome 9.8
360 esophageal candidiasis 9.8
361 acute cystitis 9.8
362 pulmonary sarcoidosis 9.8
363 cholestasis 9.8
364 renal tubular acidosis 9.8
365 thrombocytopenia due to platelet alloimmunization 9.8
366 mental depression 9.8
367 cystitis 9.8
368 neuroendocrine tumor 9.8
369 hypogonadism 9.8
370 cholecystitis 9.8
371 dental caries 9.8
372 thrombocytosis 9.8
373 arteriosclerosis 9.8
374 skin atrophy 9.8
375 contact dermatitis 9.8
376 pulmonary tuberculosis 9.8
377 iga glomerulonephritis 9.8
378 mood disorder 9.8
379 carotid artery disease 9.8
380 cellulitis 9.8
381 gastric adenocarcinoma 9.8
382 heart valve disease 9.8
383 granulomatous dermatitis 9.8
384 proliferative glomerulonephritis 9.8
385 pancreatitis 9.8
386 thyroid gland disease 9.8
387 infertility 9.8
388 aortic valve insufficiency 9.8
389 muscular atrophy 9.8
390 chronic kidney disease 9.8
391 periodontitis 9.8
392 osteoarthritis 9.8
393 paralytic ileus 9.8
394 hypertensive encephalopathy 9.8
395 congenital extrahepatic portosystemic shunt 9.8
396 hansen's disease 9.8
397 pleuroparenchymal fibroelastosis 9.8
398 retroperitoneal fibrosis 9.8
399 chronic pain 9.8
400 dysautonomia 9.8
401 posttransplant acute limbic encephalitis 9.8
402 cerebrofacial arteriovenous metameric syndrome 9.8
403 combined pulmonary fibrosis-emphysema syndrome 9.8
404 spastic paraplegia 3, autosomal dominant 9.8 COL1A1 CCN2
405 ehlers-danlos/osteogenesis imperfecta syndrome 9.7 COL1A2 COL1A1
406 col1a1/2 osteogenesis imperfecta 9.7 COL1A2 COL1A1
407 alzheimer disease 9.7
408 amyloidosis, primary localized cutaneous, 1 9.7
409 bladder cancer 9.7
410 elastosis perforans serpiginosa 9.7
411 hypertriglyceridemia, familial 9.7
412 kaposi sarcoma 9.7
413 keloid formation 9.7
414 neutrophil migration 9.7
415 pernicious anemia 9.7
416 pheochromocytoma 9.7
417 pityriasis rubra pilaris 9.7
418 porphyria cutanea tarda 9.7
419 small cell cancer of the lung 9.7
420 triiodothyronine receptor auxiliary protein 9.7
421 complement component 2 deficiency 9.7
422 multiple pterygium syndrome, lethal type 9.7
423 polycythemia vera 9.7
424 insulin-like growth factor i 9.7
425 thymoma, familial 9.7
426 werner syndrome 9.7
427 aging 9.7
428 gallbladder disease 1 9.7
429 cd4/cd8 t-cell ratio 9.7
430 stroke, ischemic 9.7
431 yemenite deaf-blind hypopigmentation syndrome 9.7
432 malignant atrophic papulosis 9.7
433 branchiootic syndrome 1 9.7
434 langerhans cell histiocytosis 9.7
435 nasopharyngeal carcinoma 9.7
436 leukemia, chronic myeloid 9.7
437 gastric cancer 9.7
438 microcephaly, epilepsy, and diabetes syndrome 9.7
439 aortic valve disease 2 9.7
440 melanoma, cutaneous malignant 10 9.7
441 tendinitis 9.7
442 cryptogenic organizing pneumonia 9.7
443 cutaneous lupus erythematosus 9.7
444 restless legs syndrome 9.7
445 arrhythmogenic right ventricular cardiomyopathy 9.7
446 primary cutaneous amyloidosis 9.7
447 diffuse large b-cell lymphoma 9.7
448 metabolic acidosis 9.7
449 sinoatrial node disease 9.7
450 sleep apnea 9.7
451 adrenal gland pheochromocytoma 9.7
452 immunoglobulin alpha deficiency 9.7
453 cutaneous t cell lymphoma 9.7
454 hereditary lymphedema i 9.7
455 bone disease 9.7
456 tongue carcinoma 9.7
457 dry eye syndrome 9.7
458 cholelithiasis 9.7
459 pleurisy 9.7
460 parotitis 9.7
461 endocarditis 9.7
462 hemiplegia 9.7
463 hydronephrosis 9.7
464 spondyloarthropathy 9.7
465 constrictive pericarditis 9.7
466 protein-energy malnutrition 9.7
467 multicentric reticulohistiocytosis 9.7
468 visual epilepsy 9.7
469 optic neuritis 9.7
470 chagas disease 9.7
471 goiter 9.7
472 secondary hyperparathyroidism 9.7
473 acute kidney tubular necrosis 9.7
474 pyloric stenosis 9.7
475 hereditary hemorrhagic telangiectasia 9.7
476 branch retinal artery occlusion 9.7
477 uveitis 9.7
478 megaesophagus 9.7
479 porphyria 9.7
480 skin sarcoidosis 9.7
481 hyperparathyroidism 9.7
482 sick sinus syndrome 9.7
483 benign paroxysmal positional nystagmus 9.7
484 toxic shock syndrome 9.7
485 childhood type dermatomyositis 9.7
486 primary hypertrophic osteoarthropathy 9.7
487 norwegian scabies 9.7
488 ichthyosis 9.7
489 neuritis 9.7
490 optic nerve disease 9.7
491 melanoma 9.7
492 leiomyosarcoma 9.7
493 rectum cancer 9.7
494 blood platelet disease 9.7
495 relapsing-remitting multiple sclerosis 9.7
496 thrombophilia 9.7
497 relapsing polychondritis 9.7
498 benign mesothelioma 9.7
499 euthyroid sick syndrome 9.7
500 acute pancreatitis 9.7
501 severe acute respiratory syndrome 9.7
502 thymoma 9.7
503 thymic carcinoma 9.7
504 histiocytosis 9.7
505 mastocytosis 9.7
506 intermittent claudication 9.7
507 plexopathy 9.7
508 restrictive cardiomyopathy 9.7
509 pyoderma 9.7
510 macular retinal edema 9.7
511 ulnar neuropathy 9.7
512 movement disease 9.7
513 central nervous system vasculitis 9.7
514 sleep disorder 9.7
515 lung oat cell carcinoma 9.7
516 nephrolithiasis 9.7
517 plasma cell neoplasm 9.7
518 subacute thyroiditis 9.7
519 active peptic ulcer disease 9.7
520 gastrointestinal system disease 9.7
521 peritonitis 9.7
522 scabies 9.7
523 cataract 9.7
524 polycythemia 9.7
525 influenza 9.7
526 retinal artery occlusion 9.7
527 pyoderma gangrenosum 9.7
528 oropharynx cancer 9.7
529 subacute delirium 9.7
530 bacterial pneumonia 9.7
531 rubella 9.7
532 lichen planus 9.7
533 iridocyclitis 9.7
534 encephalitis 9.7
535 aphthous stomatitis 9.7
536 pulmonary emphysema 9.7
537 eosinophilia-myalgia syndrome 9.7
538 acute graft versus host disease 9.7
539 allergic encephalomyelitis 9.7
540 amyloidosis aa 9.7
541 catastrophic antiphospholipid syndrome 9.7
542 chronic thromboembolic pulmonary hypertension 9.7
543 granulocytopenia 9.7
544 hyperacusis 9.7
545 lipodermatosclerosis 9.7
546 lymphangiectasis 9.7
547 papular mucinosis 9.7
548 rheumatoid vasculitis 9.7
549 scleromyxedema 9.7
550 systemic necrotizing angitis 9.7
551 fainting 9.7
552 headache 9.7
553 seizure disorder 9.7
554 rare rheumatologic disease 9.7
555 secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease 9.7
556 pulmonary arterial hypertension associated with connective tissue disease 9.7
557 toxic oil syndrome 9.7
558 non-inflammatory vasculopathy 9.7
559 pik3ca-related overgrowth syndrome 9.7
560 pauci-immune glomerulonephritis 9.7
561 hyperpigmentation of the skin 9.7
562 refractory anemia 9.7
563 high bone mass osteogenesis imperfecta 9.7 COL1A2 COL1A1
564 larsen-like syndrome 9.7 COL1A2 COL1A1
565 migraine with or without aura 1 9.7
566 atrioventricular dissociation 9.7
567 australia antigen 9.7
568 phenylketonuria 9.7
569 reticuloendotheliosis, x-linked 9.7
570 sickle cell anemia 9.7
571 systemic lupus erythematosus 4 9.7
572 sarcoidosis 3 9.7
573 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 9.7
574 brown syndrome 9.7
575 pulmonary aspergilloma 9.7
576 erythema multiforme 9.7
577 oculocutaneous albinism 9.7
578 schizotypal personality disorder 9.7
579 enophthalmos 9.7
580 pyelonephritis 9.7
581 lyme disease 9.7
582 focal segmental glomerulosclerosis 9.7
583 glossitis 9.7
584 personality disorder 9.7
585 mitral valve stenosis 9.7
586 hyperinsulinism 9.7
587 vulvar sarcoma 9.7
588 nocardiosis 9.7
589 kidney cancer 9.7
590 epidermolysis bullosa 9.7
591 hairy cell leukemia 9.7
592 lactic acidosis 9.7
593 granuloma annulare 9.7
594 porokeratosis 9.7
595 burning mouth syndrome 9.7
596 albinism 9.7
597 acute articular rheumatism 9.7
598 al amyloidosis 9.7
599 atrophoderma of pasini and pierini 9.7
600 drug reaction with eosinophilia and systemic symptoms 9.7
601 kikuchi disease 9.7
602 mallory-weiss syndrome 9.7
603 mycetoma 9.7
604 st anthony's fire 9.7
605 dysphagia lusoria 9.7
606 ehlers-danlos syndrome, arthrochalasia type, 2 9.7 COL1A2 COL1A1
607 type i ehlers-danlos syndrome 9.7 COL1A2 COL1A1
608 arthrochalasia ehlers-danlos syndrome 9.7 COL1A2 COL1A1
609 classic ehlers-danlos syndrome 9.6 COL1A2 COL1A1
610 osteogenesis imperfecta, type vi 9.6 COL1A2 COL1A1
611 ehlers-danlos syndrome, classic type, 1 9.6 COL1A2 COL1A1
612 inguinal hernia 9.6 FBN1 COL1A1 CD36
613 acanthosis nigricans 9.6
614 pfeiffer syndrome 9.6
615 acromicric dysplasia 9.6
616 alcohol dependence 9.6
617 ankyloglossia with or without tooth anomalies 9.6
618 annular erythema 9.6
619 b-cell growth factor 9.6
620 aortic valve disease 1 9.6
621 epidermolytic hyperkeratosis 9.6
622 colorectal cancer 9.6
623 hepatocellular carcinoma 9.6
624 earlobe crease 9.6
625 felty syndrome 9.6
626 myhre syndrome 9.6
627 hypertension, essential 9.6
628 ige responsiveness, atopic 9.6
629 intussusception 9.6
630 keratitis, hereditary 9.6
631 chromosome 8q22.1 duplication syndrome 9.6
632 meniere disease 9.6
633 mesothelioma, malignant 9.6
634 nondisjunction 9.6
635 facioscapulohumeral muscular dystrophy 1 9.6
636 obsessive-compulsive disorder 9.6
637 ovarian cancer 9.6
638 nephrolithiasis, calcium oxalate 9.6
639 papillomatosis, confluent and reticulated 9.6
640 parkinson disease, late-onset 9.6
641 retinitis pigmentosa 9 9.6
642 spinocerebellar ataxia 6 9.6
643 spondylolisthesis 9.6
644 thrombophilia due to activated protein c resistance 9.6
645 thyroid cancer, nonmedullary, 2 9.6
646 thyroid cancer, nonmedullary, 1 9.6
647 tuberous sclerosis 1 9.6
648 vasculopathy, retinal, with cerebral leukodystrophy 9.6
649 wilms tumor 1 9.6
650 wolff-parkinson-white syndrome 9.6
651 anemia, autoimmune hemolytic 9.6
652 anemia, hypochromic microcytic, with iron overload 1 9.6
653 ataxia-telangiectasia 9.6
654 cystinuria 9.6
655 diabetes mellitus, type i 9.6
656 factor x deficiency 9.6
657 fibrosclerosis, multifocal 9.6
658 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 9.6
659 hypogonadism, male 9.6
660 immune deficiency disease 9.6
661 chylomicron retention disease 9.6
662 spondylometaphyseal dysplasia, sedaghatian type 9.6
663 mycosis fungoides 9.6
664 ocular motor apraxia 9.6
665 interstitial pneumonitis, desquamative, familial 9.6
666 gitelman syndrome 9.6
667 pseudoxanthoma elasticum 9.6
668 graves disease 1 9.6
669 fabry disease 9.6
670 androgen insensitivity, partial 9.6
671 frontotemporal dementia 9.6
672 wilms tumor 5 9.6
673 systemic lupus erythematosus 1 9.6
674 astigmatism 9.6
675 macular degeneration, age-related, 1 9.6
676 ventricular fibrillation, paroxysmal familial, 1 9.6
677 inflammatory bowel disease 7 9.6
678 lymphangioleiomyomatosis 9.6
679 spastic paraplegia, ataxia, and mental retardation 9.6
680 dermatofibrosarcoma protuberans 9.6
681 mycobacterium tuberculosis 1 9.6
682 hypertensive nephropathy 9.6
683 endometrial cancer 9.6
684 kala-azar 1 9.6
685 autoimmune disease 2 9.6
686 carotid intimal medial thickness 2 9.6
687 granulomatosis with polyangiitis 9.6
688 human immunodeficiency virus type 1 9.6
689 syndactyly, mesoaxial synostotic, with phalangeal reduction 9.6
690 hepatitis c virus 9.6
691 systemic lupus erythematosus 8 9.6
692 esophagitis, eosinophilic, 1 9.6
693 pulmonary alveolar proteinosis, acquired 9.6
694 legius syndrome 9.6
695 sarcoidosis 2 9.6
696 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 9.6
697 systemic lupus erythematosus 14 9.6
698 fanconi renotubular syndrome 2 9.6
699 ectodermal dysplasia-syndactyly syndrome 2 9.6
700 cholangitis, primary sclerosing 9.6
701 aspergillosis 9.6
702 myelodysplastic syndrome 9.6
703 myopathy due to myoadenylate deaminase deficiency 9.6
704 chorea, childhood-onset, with psychomotor retardation 9.6
705 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 9.6
706 chronic ulcer of skin 9.6
707 autoimmune gastritis 9.6
708 autoimmune pancreatitis 9.6
709 drug-induced lupus erythematosus 9.6
710 autoimmune vasculitis 9.6
711 swine influenza 9.6
712 adult t-cell leukemia 9.6
713 hypochromic microcytic anemia 9.6
714 vitamin b12 deficiency 9.6
715 mantle cell lymphoma 9.6
716 peripheral t-cell lymphoma 9.6
717 third-degree atrioventricular block 9.6
718 infective endocarditis 9.6
719 aphasia 9.6
720 alexithymia 9.6
721 ischemic colitis 9.6
722 microscopic colitis 9.6
723 crohn's colitis 9.6
724 atrial fibrillation 9.6
725 basal ganglia calcification 9.6
726 angular cheilitis 9.6
727 dental abscess 9.6
728 drug allergy 9.6
729 lymphoproliferative syndrome 9.6
730 muscular disease 9.6
731 myoglobinuria 9.6
732 renal hypoplasia 9.6
733 nodal marginal zone lymphoma 9.6
734 igg4-related disease 9.6
735 thyroid gland anaplastic carcinoma 9.6
736 aortic dissection 9.6
737 angioimmunoblastic t-cell lymphoma 9.6
738 thyroid lymphoma 9.6
739 pigmentation disease 9.6
740 mumps 9.6
741 caplan's syndrome 9.6
742 siderosis 9.6
743 nasopharyngitis 9.6
744 osteomalacia 9.6
745 fanconi syndrome 9.6
746 interstitial nephritis 9.6
747 open-angle glaucoma 9.6
748 filariasis 9.6
749 lepromatous leprosy 9.6
750 strongyloidiasis 9.6
751 pinguecula 9.6
752 q fever 9.6
753 sarcoma 9.6
754 t cell deficiency 9.6
755 social phobia 9.6
756 mobitz type ii atrioventricular block 9.6
757 pneumocystosis 9.6
758 adult respiratory distress syndrome 9.6
759 hypertensive retinopathy 9.6
760 retinal vasculitis 9.6
761 portal vein thrombosis 9.6
762 coronary artery vasospasm 9.6
763 coronary thrombosis 9.6
764 ischemic neuropathy 9.6
765 hemosiderosis 9.6
766 pulmonary alveolar proteinosis 9.6
767 dysthymic disorder 9.6
768 tympanosclerosis 9.6
769 common variable immunodeficiency 9.6
770 alcoholic hepatitis 9.6
771 bronchopneumonia 9.6
772 tarsal tunnel syndrome 9.6
773 hepatitis a 9.6
774 quadriplegia 9.6
775 guillain-barre syndrome 9.6
776 choreatic disease 9.6
777 sialolithiasis 9.6
778 endomyocardial fibrosis 9.6
779 paronychia 9.6
780 tooth resorption 9.6
781 exocrine pancreatic insufficiency 9.6
782 pure red-cell aplasia 9.6
783 cardiac sarcoidosis 9.6
784 scleritis 9.6
785 tuberous sclerosis 9.6
786 obstructive jaundice 9.6
787 squamous cell papilloma 9.6
788 amenorrhea 9.6
789 poems syndrome 9.6
790 blue toe syndrome 9.6
791 pulmonary valve insufficiency 9.6
792 sclerosing cholangitis 9.6
793 neurogenic arthropathy 9.6
794 generalized anxiety disorder 9.6
795 pyuria 9.6
796 autosomal dominant cerebellar ataxia 9.6
797 echinococcosis 9.6
798 disease of mental health 9.6
799 pleural disease 9.6
800 angioedema 9.6
801 renovascular hypertension 9.6
802 lymphadenitis 9.6
803 retinal vein occlusion 9.6
804 facial hemiatrophy 9.6
805 cheilitis 9.6
806 toxic megacolon 9.6
807 viral hepatitis 9.6
808 rectum adenocarcinoma 9.6
809 hepatitis b 9.6
810 hyperostosis 9.6
811 intestinal perforation 9.6
812 vulvar melanoma 9.6
813 b cell deficiency 9.6
814 myeloproliferative neoplasm 9.6
815 transient cerebral ischemia 9.6
816 ankylosis 9.6
817 motor neuron disease 9.6
818 wernicke encephalopathy 9.6
819 acromegaly 9.6
820 central retinal vein occlusion 9.6
821 retinal vascular disease 9.6
822 angiodysplasia 9.6
823 basal cell carcinoma 9.6
824 hemangioma 9.6
825 larynx cancer 9.6
826 papilloma 9.6
827 transitional cell carcinoma 9.6
828 capillary hemangioma 9.6
829 bilirubin metabolic disorder 9.6
830 acute interstitial pneumonia 9.6
831 acalculous cholecystitis 9.6
832 endometriosis 9.6
833 membranoproliferative glomerulonephritis 9.6
834 inner ear disease 9.6
835 anuria 9.6
836 churg-strauss syndrome 9.6
837 glioblastoma multiforme 9.6
838 gingivitis 9.6
839 thoracic outlet syndrome 9.6
840 demyelinating disease 9.6
841 central nervous system lymphoma 9.6
842 lipid pneumonia 9.6
843 bone inflammation disease 9.6
844 cerebritis 9.6
845 mammary paget's disease 9.6
846 breast adenocarcinoma 9.6
847 breast disease 9.6
848 systemic mastocytosis 9.6
849 aortic aneurysm 9.6
850 pituitary adenoma 9.6
851 placental insufficiency 9.6
852 thyroid gland follicular carcinoma 9.6
853 bladder urothelial carcinoma 9.6
854 nail disease 9.6
855 syphilis 9.6
856 hair disease 9.6
857 spindle cell sarcoma 9.6
858 neuromuscular disease 9.6
859 hepatitis e 9.6
860 seminoma 9.6
861 hypokalemia 9.6
862 uremia 9.6
863 endophthalmitis 9.6
864 gastric neuroendocrine neoplasm 9.6
865 intracranial hypotension 9.6
866 vasculogenic impotence 9.6
867 pulmonary blastoma 9.6
868 embryoma 9.6
869 mesangial proliferative glomerulonephritis 9.6
870 tubular adenocarcinoma 9.6
871 elephantiasis 9.6
872 arteriosclerosis obliterans 9.6
873 ureteral obstruction 9.6
874 urinary tract obstruction 9.6
875 chronic polyneuropathy 9.6
876 paget's disease of bone 9.6
877 volkmann contracture 9.6
878 diffuse pulmonary fibrosis 9.6
879 pleomorphic carcinoma 9.6
880 retinal disease 9.6
881 median neuropathy 9.6
882 extragonadal seminoma 9.6
883 septal myocardial infarction 9.6
884 inferior myocardial infarction 9.6
885 paraplegia 9.6
886 mitral valve disease 9.6
887 hypersplenism 9.6
888 gastric small cell carcinoma 9.6
889 adenoma 9.6
890 diffuse idiopathic skeletal hyperostosis 9.6
891 myositis ossificans 9.6
892 compartment syndrome 9.6
893 t-cell lymphoblastic leukemia/lymphoma 9.6
894 axonal neuropathy 9.6
895 malignant pleural mesothelioma 9.6
896 peptic ulcer disease 9.6
897 delusional disorder 9.6
898 placenta disease 9.6
899 cocaine abuse 9.6
900 corneal ulcer 9.6
901 actinomycosis 9.6
902 measles 9.6
903 chickenpox 9.6
904 erythema infectiosum 9.6
905 pyomyositis 9.6
906 intermediate coronary syndrome 9.6
907 atrophic gastritis 9.6
908 leishmaniasis 9.6
909 macroglobulinemia 9.6
910 cutaneous leishmaniasis 9.6
911 mucocutaneous leishmaniasis 9.6
912 ocular hypertension 9.6
913 scotoma 9.6
914 hypopituitarism 9.6
915 diabetes insipidus 9.6
916 blepharitis 9.6
917 intracranial hypertension 9.6
918 necrotizing fasciitis 9.6
919 stomatitis 9.6
920 cervical incompetence 9.6
921 diabetic neuropathy 9.6
922 diastolic heart failure 9.6
923 hypersensitivity vasculitis 9.6
924 alopecia areata 9.6
925 miliary tuberculosis 9.6
926 muscular dystrophy 9.6
927 toxoplasmosis 9.6
928 heritable pulmonary arterial hypertension 9.6
929 sickle cell disease 9.6
930 acquired hemophilia 9.6
931 allergic angiitis 9.6
932 angiosarcoma of the scalp 9.6
933 antisynthetase syndrome 9.6
934 auditory neuropathy spectrum disorder 9.6
935 autoimmune encephalitis 9.6
936 autoimmune inner ear disease 9.6
937 autoimmune myocarditis 9.6
938 cold agglutinin disease 9.6
939 cutaneous polyarteritis nodosa 9.6
940 erythrokeratoderma ''en cocardes'' 9.6
941 glioma 9.6
942 grover's disease 9.6
943 hemorrhagic shock and encephalopathy syndrome 9.6
944 ichthyosis, acquired 9.6
945 infectious myocarditis 9.6
946 jackhammer esophagus 9.6
947 juvenile temporal arteritis 9.6
948 lathyrism 9.6
949 leiner disease 9.6
950 leukemia, t-cell, chronic 9.6
951 limbic encephalitis 9.6
952 macrophage activation syndrome 9.6
953 malakoplakia 9.6
954 oral cancer 9.6
955 primary central nervous system lymphoma 9.6
956 pseudoainhum 9.6
957 remitting seronegative symmetrical synovitis with pitting edema 9.6
958 soft tissue sarcoma 9.6
959 stevens-johnson syndrome/toxic epidermal necrolysis 9.6
960 sudden sensorineural hearing loss 9.6
961 superficial siderosis of the central nervous system 9.6
962 systemic onset juvenile idiopathic arthritis 9.6
963 wells syndrome 9.6
964 brain injury 9.6
965 central cord syndrome 9.6
966 cerebral aneurysms 9.6
967 cerebral atrophy 9.6
968 cerebral beriberi 9.6
969 foot drop 9.6
970 hypotonia 9.6
971 spinal cord injury 9.6
972 swallowing disorders 9.6
973 tremor 9.6
974 subacute cutaneous lupus erythematosus 9.6
975 glial tumor 9.6
976 vulvar intraepithelial neoplasia 9.6
977 macular amyloidosis 9.6
978 rapidly involuting congenital hemangioma 9.6
979 superficial siderosis 9.6
980 autosomal dominant epidermolytic ichthyosis 9.6
981 drug-induced vasculitis 9.6
982 pulmonary arterial hypertension associated with congenital heart disease 9.6
983 overlap myositis 9.6
984 specific language disorder 9.6
985 igg4-related mesenteritis 9.6
986 chronic intestinal failure 9.6
987 neonatal scleroderma 9.6
988 spontaneous intracranial hypotension 9.6
989 isolated optic neuritis 9.6
990 rare pulmonary hypertension 9.6
991 igg4-related thyroid disease 9.6
992 premature aging 9.6
993 cardiogenic shock 9.6
994 autoinflammatory syndrome 9.6
995 primary mediastinal large b-cell lymphoma 9.6
996 red cell aplasia 9.6
997 polyendocrinopathy 9.6
998 x-linked alport syndrome 9.6 COL1A2 COL1A1
999 stickler syndrome 9.4 FBN1 COL1A2 COL1A1
1000 bone structure disease 9.4 FBN1 COL1A2 COL1A1
1001 bone development disease 9.4 FBN1 COL1A2 COL1A1
1002 osteogenesis imperfecta, type v 9.4 COL1A2 COL1A1 CD36
1003 caffey disease 9.3 COL1A2 COL1A1 CD36
1004 bruck syndrome 9.3 COL1A2 COL1A1 CD36
1005 osteoporosis, juvenile 9.3 COL1A2 COL1A1 CD36
1006 osteogenesis imperfecta, type i 9.3 COL1A2 COL1A1 CD36
1007 idiopathic scoliosis 9.3 FBN1 COL1A2
1008 osteogenesis imperfecta, type ii 9.3 COL1A2 COL1A1 CD36
1009 osteogenesis imperfecta, type iv 9.3 COL1A2 COL1A1 CD36
1010 osteogenesis imperfecta, type iii 9.3 COL1A2 COL1A1 CD36
1011 syndromic x-linked intellectual disability cabezas type 9.3 TOP1 COL1A2 COL1A1 CCN2
1012 otosclerosis 9.3 COL1A2 COL1A1 CD36
1013 odontochondrodysplasia 9.2 FBN1 COL1A2 COL1A1
1014 brittle bone disorder 9.0 FBN1 COL1A2 COL1A1 CD36
1015 ehlers-danlos syndrome 9.0 FBN1 COL1A2 COL1A1 CD36

Graphical network of the top 20 diseases related to Scleroderma, Familial Progressive:



Diseases related to Scleroderma, Familial Progressive

Symptoms & Phenotypes for Scleroderma, Familial Progressive

Human phenotypes related to Scleroderma, Familial Progressive:

58 31 (showing 61, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001369
2 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
3 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
4 hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000962
5 edema 58 31 hallmark (90%) Very frequent (99-80%) HP:0000969
6 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
7 chondrocalcinosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000934
8 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
9 autoimmunity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002960
10 myalgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003326
11 cough 58 31 hallmark (90%) Very frequent (99-80%) HP:0012735
12 lack of skin elasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0100679
13 chest pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0100749
14 atypical scarring of skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000987
15 abnormality of the gastric mucosa 58 31 hallmark (90%) Very frequent (99-80%) HP:0004295
16 gastroparesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002578
17 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
18 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
19 telangiectasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0100585
20 papule 58 31 frequent (33%) Frequent (79-30%) HP:0200034
21 skin ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0200042
22 xerostomia 58 31 frequent (33%) Frequent (79-30%) HP:0000217
23 pericarditis 58 31 frequent (33%) Frequent (79-30%) HP:0001701
24 pulmonary infiltrates 58 31 frequent (33%) Frequent (79-30%) HP:0002113
25 pulmonary fibrosis 58 31 frequent (33%) Frequent (79-30%) HP:0002206
26 cachexia 58 31 frequent (33%) Frequent (79-30%) HP:0004326
27 mucosal telangiectasiae 58 31 frequent (33%) Frequent (79-30%) HP:0100579
28 myositis 58 31 frequent (33%) Frequent (79-30%) HP:0100614
29 gangrene 58 31 frequent (33%) Frequent (79-30%) HP:0100758
30 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
31 myocardial fibrosis 58 31 frequent (33%) Frequent (79-30%) HP:0001685
32 feeding difficulties in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008872
33 arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011675
34 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
35 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
36 joint dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001373
37 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
38 bowel incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0002607
39 osteomyelitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002754
40 osteolysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002797
41 angina pectoris 58 31 occasional (7.5%) Occasional (29-5%) HP:0001681
42 irregular hyperpigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007400
43 hypertensive crisis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100735
44 migraine 58 31 occasional (7.5%) Occasional (29-5%) HP:0002076
45 tendon rupture 58 31 occasional (7.5%) Occasional (29-5%) HP:0100550
46 tetralogy of fallot with atrioventricular canal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0011677
47 seizure 31 occasional (7.5%) HP:0001250
48 erectile dysfunction 31 occasional (7.5%) HP:0100639
49 generalized abnormality of skin 58 Very frequent (99-80%)
50 seizures 58 Occasional (29-5%)
51 weight loss 58 Very frequent (99-80%)
52 abnormality of skin pigmentation 58 Frequent (79-30%)
53 erectile abnormalities 58 Occasional (29-5%)
54 hypertension 58 Frequent (79-30%)
55 abnormality of chromosome stability 31 HP:0003220
56 telangiectasia 31 HP:0001009
57 scleroderma 31 HP:0100324
58 sclerodactyly 31 HP:0011838
59 calcinosis 31 HP:0003761
60 abnormality of abdomen morphology 31 HP:0001438
61 chromosome breakage 31 HP:0040012

Symptoms via clinical synopsis from OMIM:

56
Skin:
telangiectasia
sclerodactyly
calcinosis
progressive systemic scleroderma
raynaud syndrome

Immunology:
anticentromere and other antibodies

G I:
esophageal aperistalsis

Lab:
increased chromosomal breakage rate

Clinical features from OMIM:

181750

UMLS symptoms related to Scleroderma, Familial Progressive:


pruritus, exanthema, hidebound skin

MGI Mouse Phenotypes related to Scleroderma, Familial Progressive:

45 (showing 4, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 AIF1 CCN2 CD36 COL1A1 COL1A2 EDN1
2 growth/size/body region MP:0005378 9.76 BMP6 CCN2 CD36 CENPB COL1A1 COL1A2
3 mortality/aging MP:0010768 9.61 CCN2 CD36 CENPB COL1A1 COL1A2 EDN1
4 skeleton MP:0005390 9.23 AIF1 BMP6 CCN2 CD36 COL1A1 COL1A2

Drugs & Therapeutics for Scleroderma, Familial Progressive

Drugs for Scleroderma, Familial Progressive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 271, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Macitentan Approved Phase 4 441798-33-0
2
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
3
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
4
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
5
Norepinephrine Approved Phase 4 51-41-2 439260
6
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
7 Endothelin Receptor Antagonists Phase 4
8 Endothelin A Receptor Antagonists Phase 4
9 Phosphodiesterase Inhibitors Phase 4
10 Phosphodiesterase 5 Inhibitors Phase 4
11 Vasodilator Agents Phase 4
12 Immunosuppressive Agents Phase 4
13 Immunologic Factors Phase 4
14 Anesthetics, Local Phase 4
15 Neurotransmitter Agents Phase 4
16 Antiparasitic Agents Phase 4
17 Antiprotozoal Agents Phase 4
18 Vaccines Phase 4
19 Adrenergic alpha-Agonists Phase 4
20 Vasoconstrictor Agents Phase 4
21 Adrenergic Agents Phase 4
22 Adrenergic Agonists Phase 4
23 Sympathomimetics Phase 4
24 Analgesics, Non-Narcotic Phase 4
25 Fibrinolytic Agents Phase 4
26 Analgesics Phase 4
27 Cyclooxygenase Inhibitors Phase 4
28 Antipyretics Phase 4
29 Anti-Inflammatory Agents, Non-Steroidal Phase 4
30 Omega 3 Fatty Acid Phase 4
31
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 12035
32
Methocarbamol Approved, Vet_approved Phase 3 532-03-6 4107
33
Sodium citrate Approved, Investigational Phase 3 68-04-2
34
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
35
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
36
Lactulose Approved Phase 3 4618-18-2 11333
37
Acetylcholine Approved, Investigational Phase 3 51-84-3 187
38
Nitroglycerin Approved, Investigational Phase 2, Phase 3 55-63-0 4510
39
Imiquimod Approved, Investigational Phase 3 99011-02-6 57469
40
Pirfenidone Approved, Investigational Phase 3 53179-13-8 40632
41 Brodalumab Approved, Investigational Phase 3 1174395-19-7
42
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
43
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
44
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
45
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
46 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
47
Mesna Approved, Investigational Phase 2, Phase 3 3375-50-6 598
48
Nintedanib Approved Phase 3 656247-17-5 56843413
49
Fludarabine Approved Phase 3 21679-14-1, 75607-67-9 30751
50
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
51
Sargramostim Approved, Investigational Phase 2, Phase 3 83869-56-1, 123774-72-1
52
Ifosfamide Approved Phase 2, Phase 3 3778-73-2 3690
53
Nitrous oxide Approved, Vet_approved Phase 3 10024-97-2 948
54
Prilocaine Approved Phase 3 721-50-6 4906
55
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
56
Bupivacaine Approved, Investigational Phase 2, Phase 3 2180-92-9, 38396-39-3 2474
57
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
58 Fasudil Investigational Phase 3 103745-39-7
59
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
60 Respiratory System Agents Phase 2, Phase 3
61 Expectorants Phase 2, Phase 3
62 N-monoacetylcystine Phase 2, Phase 3
63 Bifidobacterium Phase 3
64 Sildenafil Citrate Phase 3 171599-83-0
65 Calcium, Dietary Phase 3
66 calcium channel blockers Phase 3
67 Lipid Regulating Agents Phase 3
68 Hypolipidemic Agents Phase 3
69 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
70 Anticholesteremic Agents Phase 3
71 Rosuvastatin Calcium Phase 3 147098-20-2
72 Citrate Phase 3
73 Anticoagulants Phase 3
74 Dopamine Agents Phase 3
75 Dopamine Antagonists Phase 3
76 Sodium Channel Blockers Phase 2, Phase 3
77 Anti-Arrhythmia Agents Phase 2, Phase 3
78 Diuretics, Potassium Sparing Phase 2, Phase 3
79 Adjuvants, Immunologic Phase 3
80 Cholinergic Agents Phase 3
81 interferons Phase 3
82 Insulin, Globin Zinc Phase 3
83 insulin Phase 3
84 Anti-Inflammatory Agents Phase 2, Phase 3
85 Antibodies Phase 3
86 Immunoglobulins Phase 3
87 Alkylating Agents Phase 3
88 Immunoglobulins, Intravenous Phase 2, Phase 3
89 Rho(D) Immune Globulin Phase 2, Phase 3
90 gamma-Globulins Phase 2, Phase 3
91 Methylprednisolone Acetate Phase 2, Phase 3
92 Hormones Phase 3
93 Antilymphocyte Serum Phase 2, Phase 3
94 Thymoglobulin Phase 2, Phase 3
95 Gastrointestinal Agents Phase 2, Phase 3
96 Antineoplastic Agents, Hormonal Phase 2, Phase 3
97 Hormone Antagonists Phase 2, Phase 3
98 Antiemetics Phase 2, Phase 3
99 Neuroprotective Agents Phase 2, Phase 3
100 glucocorticoids Phase 2, Phase 3
101
Isophosphamide mustard Phase 2, Phase 3 0
102 polysaccharide-K Phase 2, Phase 3
103 abobotulinumtoxinA Phase 3
104 Botulinum Toxins, Type A Phase 3
105 Botulinum Toxins Phase 3
106
Calcium Nutraceutical Phase 3 7440-70-2 271
107 Orange Approved Phase 2
108
Selexipag Approved Phase 2 475086-01-2
109
leucovorin Approved Phase 1, Phase 2 58-05-9 6006 143
110
rituximab Approved Phase 2 174722-31-7 10201696
111
Riociguat Approved Phase 2 625115-55-1
112
Alprostadil Approved, Investigational Phase 2 745-65-3 149351 5280723
113
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
114
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
115
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353