MCID: SCL052
MIFTS: 63

Scleroderma, Familial Progressive

Categories: Bone diseases, Genetic diseases, Immune diseases, Nephrological diseases, Neuronal 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
Crest Syndrome 58 71
Calcinosis-Raynaud Phenomenon-Esophageal Involvement-Sclerodactyly-Telangiectasia Syndrome 58
Systemic Sclerosis, Susceptibility to 56
Sclerosis Systemic 54

Characteristics:

Orphanet epidemiological data:

58
crest syndrome
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult; Age of death: adult;
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 neurological diseases
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 crest syndrome, 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 Tadalafil and Silver sulfadiazine have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and endothelial, and related phenotypes are nausea and vomiting and arthritis

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 1049, show less)
# Related Disease Score Top Affiliating Genes
1 diffuse cutaneous systemic sclerosis 34.4 FBN1 CCN2
2 crest syndrome 32.5 TOP1 CENPB
3 limited scleroderma 32.1 TOP1 FBL EDN1 COL1A2 CENPB CCN2
4 pulmonary hypertension, primary, 1 31.6 EDN1 BMP6
5 pulmonary fibrosis 30.7 EDN1 COL1A1 CCN2 BMP6
6 localized scleroderma 30.6 COL1A1 CCN2 BMP6
7 systemic scleroderma 30.5 TOP1 FBN1 FBL EDN1 COL1A2 CENPB
8 tricuspid valve insufficiency 30.5 FBN1 EDN1
9 raynaud disease 30.5 TOP1 EDN1 CENPB
10 rheumatic disease 30.4 TOP1 COL1A1 CENPB BMP6
11 diffuse scleroderma 30.3 TOP1 FBL EDN1 COL1A2 COL1A1 CENPB
12 telangiectasis 30.2 TOP1 FBN1 FBL CENPB BMP6
13 nephrogenic systemic fibrosis 30.2 EDN1 CCN2
14 dyskinesia of esophagus 30.2 TOP1 CENPB
15 keloid disorder 30.1 CD36 BMP6
16 kidney disease 29.5 EDN1 CD36 CCN2 BMP6
17 pulmonary valve insufficiency 29.5 FBN1 EDN1
18 hypertrophic scars 29.5 CD36 BMP6
19 intraocular pressure quantitative trait locus 29.2 FBN1 EDN1 CCN2
20 renal fibrosis 29.2 CD36 CCN2 BMP6
21 stiff skin syndrome 29.1 FBN1 COL1A2 CCN2
22 pulmonary fibrosis, idiopathic 29.0 EDN1 COL1A2 COL1A1 CCN2 BMP6
23 pelvic organ prolapse 28.9 COL1A2 COL1A1 CD36
24 bone disease 28.5 COL1A1 CD36 BMP6
25 spinal stenosis 28.3 COL1A2 COL1A1
26 collagen disease 28.1 TOP1 FBN1 EDN1 COL1A2 COL1A1 CENPB
27 osteoporosis 28.0 EDN1 COL1A2 COL1A1 CD36 BMP6
28 marfan syndrome 27.7 FBN1 COL1A2 COL1A1 CD36 BMP6
29 connective tissue disease 27.6 TOP1 FBN1 FBL EDN1 COL1A2 COL1A1
30 pulmonary systemic sclerosis 12.5
31 obsolete: pediatric systemic sclerosis 12.2
32 reynolds syndrome 11.6
33 mixed connective tissue disease 11.4
34 gastric antral vascular ectasia 11.4
35 eosinophilic fasciitis 11.4
36 adrenoleukodystrophy 11.3
37 hemolytic uremic syndrome, atypical 1 11.0
38 telangiectasia, hereditary hemorrhagic, type 4 11.0
39 interstitial lung disease 11.0
40 lung disease 11.0
41 autoimmune disease 10.9
42 idiopathic interstitial pneumonia 10.9
43 pulmonary hypertension 10.9
44 scleredema adultorum 10.8
45 calcinosis 10.8
46 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.7
47 systemic lupus erythematosus 10.7
48 vascular disease 10.6
49 fibrosis of extraocular muscles, congenital, 1 10.6
50 enthesopathy 10.6
51 dysphagia 10.6
52 myositis 10.6
53 dermatomyositis 10.6
54 lupus erythematosus 10.6
55 polymyositis 10.5
56 vasculitis 10.5
57 gastroesophageal reflux 10.5
58 skin disease 10.5
59 myopathy 10.5
60 primary biliary cirrhosis 10.5
61 esophagitis 10.4
62 cytokine deficiency 10.4
63 neuropathy 10.4
64 hemopericardium 10.4
65 pericardial effusion 10.4
66 overgrowth syndrome 10.4
67 rheumatoid arthritis 10.4
68 sarcoidosis 1 10.4
69 pericarditis 10.4
70 constipation 10.4
71 glomerulonephritis 10.4
72 graft-versus-host disease 10.4
73 hypothyroidism 10.4
74 acroosteolysis 10.3
75 liver cirrhosis 10.3
76 synovitis 10.3
77 systemic autoimmune disease 10.3
78 peripheral vascular disease 10.3
79 thyroiditis 10.3
80 pneumatosis cystoides intestinalis 10.3
81 impotence 10.3
82 respiratory failure 10.3
83 acute kidney failure 10.3
84 intestinal pseudo-obstruction 10.3
85 pneumonia 10.3
86 cholecystolithiasis 10.3 CCN2 BMP6
87 myocarditis 10.3
88 autonomic dysfunction 10.3
89 bone resorption disease 10.3
90 diarrhea 10.3
91 cutaneous sclerosis 10.3
92 silicosis 10.3
93 thrombocytopenia 10.3
94 nonspecific interstitial pneumonia 10.3
95 antiphospholipid syndrome 10.2
96 arthropathy 10.2
97 congestive heart failure 10.2
98 hemolytic anemia 10.2
99 chronic graft versus host disease 10.2
100 peptic esophagitis 10.2
101 dowling-degos disease 1 10.2
102 nontuberculous mycobacterial lung disease 10.2 FBN1 BMP6
103 atherosclerosis susceptibility 10.2
104 sjogren syndrome 10.2
105 deficiency anemia 10.2
106 peripheral nervous system disease 10.2
107 arthritis 10.2
108 47,xyy 10.2
109 undifferentiated connective tissue disease 10.2
110 barrett esophagus 10.2
111 malignant hypertension 10.2
112 fasciitis 10.2
113 atrial standstill 1 10.2
114 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.2
115 crescentic glomerulonephritis 10.2
116 amyloidosis 10.2
117 anca-associated vasculitis 10.2
118 microvascular complications of diabetes 3 10.1 CCN2 BMP6
119 neutropenia 10.1
120 purpura 10.1
121 carpal tunnel syndrome 10.1
122 multiple sclerosis 10.1
123 hashimoto thyroiditis 10.1
124 pulmonary venoocclusive disease 1, autosomal dominant 10.1
125 sexual disorder 10.1
126 hepatic veno-occlusive disease 10.1
127 pulmonary venoocclusive disease 10.1
128 bronchiectasis 10.1
129 tenosynovitis 10.1
130 hypereosinophilic syndrome 10.1
131 idiopathic hypercalciuria 10.1 EDN1 BMP6
132 ocular cicatricial pemphigoid 10.1 CD36 CCN2
133 progressive familial heart block, type ia 10.1
134 lymphoma 10.1
135 portal hypertension 10.1
136 heart disease 10.1
137 adenocarcinoma 10.1
138 end stage renal failure 10.1
139 proteasome-associated autoinflammatory syndrome 1 10.1
140 progressive familial heart block, type ib 10.1
141 exanthem 10.1
142 nephrotic syndrome 10.1
143 right bundle branch block 10.1
144 polyneuropathy 10.1
145 autoimmune hepatitis 10.1
146 esophageal disease 10.1
147 diffuse alveolar hemorrhage 10.1
148 cardiac conduction defect 10.1
149 cardiac tamponade 10.1
150 graves' disease 10.1
151 pancytopenia 10.1
152 iron metabolism disease 10.1
153 gastritis 10.1
154 pustulosis of palm and sole 10.1
155 cerebrovascular disease 10.1
156 psoriasis 10.1
157 spondyloarthropathy 1 10.0
158 psoriatic arthritis 10.0
159 renal hypertension 10.0
160 inflammatory spondylopathy 10.0
161 keratoconjunctivitis sicca 10.0
162 cryoglobulinemia 10.0
163 bronchiolitis 10.0
164 lipid metabolism disorder 10.0
165 spondylitis 10.0
166 b-cell lymphoma 10.0
167 melorheostosis 10.0 CD36 BMP6
168 hernia, hiatus 10.0
169 varicose veins 10.0
170 myasthenia gravis 10.0
171 thrombosis 10.0
172 osteomyelitis 10.0
173 thrombotic thrombocytopenic purpura 10.0
174 pulmonary embolism 10.0
175 thrombotic microangiopathy 10.0
176 tricuspid valve disease 10.0 FBN1 EDN1
177 hypermobile ehlers-danlos syndrome 10.0 FBN1 COL1A1
178 breast cancer 10.0
179 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0
180 myeloma, multiple 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 sensory peripheral neuropathy 10.0
192 hyperthyroidism 10.0
193 keratoconjunctivitis 10.0
194 acute myocardial infarction 10.0
195 cholangitis 10.0
196 48,xyyy 10.0
197 banti's syndrome 10.0
198 linear scleroderma 10.0
199 splenomegaly 10.0
200 depression 10.0
201 encephalopathy 10.0
202 discoid lupus erythematosus 10.0
203 diabetic angiopathy 10.0 EDN1 BMP6
204 hepatic vascular disease 10.0 FBL EDN1
205 inclusion body myositis 10.0
206 trigeminal neuralgia 10.0
207 bone mineral density quantitative trait locus 3 10.0
208 anxiety 10.0
209 myocardial infarction 10.0
210 cyanosis, transient neonatal 10.0
211 membranous nephropathy 10.0
212 hyperprolactinemia 10.0
213 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
214 hydrops, lactic acidosis, and sideroblastic anemia 10.0
215 angina pectoris 10.0
216 atrioventricular block 10.0
217 sensorineural hearing loss 10.0
218 esophageal varix 10.0
219 iron deficiency anemia 10.0
220 gastroparesis 10.0
221 allergic hypersensitivity disease 10.0
222 candidiasis 10.0
223 hepatitis 10.0
224 bronchiolitis obliterans 10.0
225 liver disease 10.0
226 fibromyalgia 10.0
227 juvenile rheumatoid arthritis 10.0
228 osteoarthritis 10.0
229 intestinal volvulus 10.0
230 herpes zoster 10.0
231 ulcerative colitis 10.0
232 achalasia 10.0
233 microscopic polyangiitis 10.0
234 hypoxia 10.0
235 syncope 10.0
236 avascular necrosis 10.0
237 skeletal muscle disease 10.0
238 thyroid carcinoma 10.0
239 glaucoma, primary open angle 9.9 FBN1 EDN1 CCN2
240 leukemia 9.9
241 arteries, anomalies of 9.9
242 esophageal cancer 9.9
243 lichen sclerosus et atrophicus 9.9
244 thrombophilia due to thrombin defect 9.9
245 celiac disease 1 9.9
246 lymphoma, hodgkin, classic 9.9
247 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
248 retinitis pigmentosa 11 9.9
249 leukemia, chronic myeloid 9.9
250 inflammatory bowel disease 9.9
251 small cell carcinoma 9.9
252 limb ischemia 9.9
253 xerophthalmia 9.9
254 osteonecrosis 9.9
255 bacterial infectious disease 9.9
256 megacolon 9.9
257 mitral valve insufficiency 9.9
258 coronary artery anomaly 9.9
259 dilated cardiomyopathy 9.9
260 panniculitis 9.9
261 pneumothorax 9.9
262 hepatitis c 9.9
263 dermatitis 9.9
264 rapidly progressive glomerulonephritis 9.9
265 lymphopenia 9.9
266 extrinsic allergic alveolitis 9.9
267 ileus 9.9
268 neuromyelitis optica 9.9
269 pemphigus 9.9
270 hypertrophic cardiomyopathy 9.9
271 chronic intestinal pseudoobstruction 9.9
272 nodular regenerative hyperplasia 9.9
273 aneurysm 9.9
274 paraneoplastic syndromes 9.9
275 paresthesia 9.9
276 syndromic x-linked intellectual disability cabezas type 9.9 TOP1 COL1A2
277 spastic paraplegia 3, autosomal dominant 9.9 COL1A1 CCN2
278 cryoglobulinemia, familial mixed 9.9
279 hypercholesterolemia, familial, 1 9.9
280 pneumothorax, primary spontaneous 9.9
281 lung cancer 9.9
282 moyamoya disease 1 9.9
283 myelofibrosis 9.9
284 ataxia and polyneuropathy, adult-onset 9.9
285 homocysteinemia 9.9
286 aceruloplasminemia 9.9
287 lymphoma, non-hodgkin, familial 9.9
288 body mass index quantitative trait locus 1 9.9
289 pulmonary disease, chronic obstructive 9.9
290 muscle hypertrophy 9.9
291 hyperlipoproteinemia, type iii 9.9
292 aspiration pneumonia 9.9
293 peripheral artery disease 9.9
294 venous insufficiency 9.9
295 pneumoconiosis 9.9
296 anthracosis 9.9
297 disseminated intravascular coagulation 9.9
298 nephrosclerosis 9.9
299 mononeuropathy 9.9
300 eclampsia 9.9
301 frozen shoulder 9.9
302 root resorption 9.9
303 urticaria 9.9
304 mononeuritis multiplex 9.9
305 hyperuricemia 9.9
306 bursitis 9.9
307 myelitis 9.9
308 ischemia 9.9
309 skin carcinoma 9.9
310 acute myocarditis 9.9
311 coronary stenosis 9.9
312 radiculopathy 9.9
313 bronchiolo-alveolar adenocarcinoma 9.9
314 intestinal disease 9.9
315 eye disease 9.9
316 severe combined immunodeficiency 9.9
317 intestinal obstruction 9.9
318 bullous pemphigoid 9.9
319 crohn's disease 9.9
320 diabetes mellitus 9.9
321 pathologic nystagmus 9.9
322 polyarteritis nodosa 9.9
323 alopecia 9.9
324 hypoglycemia 9.9
325 homologous wasting disease 9.9
326 transverse myelitis 9.9
327 back pain 9.9
328 cytomegalovirus infection 9.9
329 pulmonary arterial hypertension associated with another disease 9.9
330 gingival fibromatosis 9.9 EDN1 CD36 CCN2
331 gingival overgrowth 9.8 EDN1 CD36 CCN2
332 hirschsprung disease 1 9.8
333 migraine with or without aura 1 9.8
334 waardenburg syndrome, type 4a 9.8
335 panuveitis 9.8
336 ectropion 9.8
337 amyotrophic lateral sclerosis 1 9.8
338 cardiac arrhythmia 9.8
339 lymphoma, mucosa-associated lymphoid type 9.8
340 renal cell carcinoma, nonpapillary 9.8
341 leukemia, chronic lymphocytic 9.8
342 visceral myopathy 9.8
343 pemphigus vulgaris, familial 9.8
344 temporal arteritis 9.8
345 takayasu arteritis 9.8
346 leprosy 3 9.8
347 cervical cancer 9.8
348 hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy 9.8
349 coronary heart disease 1 9.8
350 major depressive disorder 9.8
351 aplastic anemia 9.8
352 lung cancer susceptibility 3 9.8
353 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.8
354 auditory neuropathy and optic atrophy 9.8
355 peyronie's disease 9.8
356 angiosarcoma 9.8
357 hemorrhagic cystitis 9.8
358 collagenous colitis 9.8
359 cardiac arrest 9.8
360 hypogonadotropic hypogonadism 9.8
361 sialadenitis 9.8
362 lymphocytic leukemia 9.8
363 hypoparathyroidism 9.8
364 gingival recession 9.8
365 pulmonary edema 9.8
366 low compliance bladder 9.8
367 hemolytic-uremic syndrome 9.8
368 esophageal candidiasis 9.8
369 acute cystitis 9.8
370 pulmonary sarcoidosis 9.8
371 cholestasis 9.8
372 renal tubular acidosis 9.8
373 capillary leak syndrome 9.8
374 thrombocytopenia due to platelet alloimmunization 9.8
375 mental depression 9.8
376 cystitis 9.8
377 neuroendocrine tumor 9.8
378 squamous cell carcinoma 9.8
379 melanoma 9.8
380 hypogonadism 9.8
381 cholecystitis 9.8
382 dental caries 9.8
383 thrombocytosis 9.8
384 lateral sclerosis 9.8
385 arteriosclerosis 9.8
386 skin atrophy 9.8
387 contact dermatitis 9.8
388 pulmonary tuberculosis 9.8
389 mood disorder 9.8
390 carotid artery disease 9.8
391 cellulitis 9.8
392 gastric adenocarcinoma 9.8
393 heart valve disease 9.8
394 granulomatous dermatitis 9.8
395 pancreatitis 9.8
396 thyroid gland disease 9.8
397 infertility 9.8
398 aortic valve insufficiency 9.8
399 hypogonadotropism 9.8
400 muscular atrophy 9.8
401 chronic kidney disease 9.8
402 periodontitis 9.8
403 paralytic ileus 9.8
404 influenza 9.8
405 hypertensive encephalopathy 9.8
406 allergic encephalomyelitis 9.8
407 congenital extrahepatic portosystemic shunt 9.8
408 hansen's disease 9.8
409 neuromyelitis optica spectrum disorder 9.8
410 retroperitoneal fibrosis 9.8
411 chronic pain 9.8
412 dysautonomia 9.8
413 posttransplant acute limbic encephalitis 9.8
414 cerebrofacial arteriovenous metameric syndrome 9.8
415 combined pulmonary fibrosis-emphysema syndrome 9.8
416 raynaud phenomenon 9.8
417 osteogenesis imperfecta, type vi 9.8 COL1A2 COL1A1
418 ehlers-danlos/osteogenesis imperfecta syndrome 9.7 COL1A2 COL1A1
419 arthrochalasia ehlers-danlos syndrome 9.7 COL1A2 COL1A1
420 col1a1/2 osteogenesis imperfecta 9.7 COL1A2 COL1A1
421 high bone mass osteogenesis imperfecta 9.7 COL1A2 COL1A1
422 larsen-like syndrome 9.7 COL1A2 COL1A1
423 alzheimer disease 9.7
424 amyloidosis, primary localized cutaneous, 1 9.7
425 bladder cancer 9.7
426 elastosis perforans serpiginosa 9.7
427 hypertriglyceridemia, familial 9.7
428 kaposi sarcoma 9.7
429 keloid formation 9.7
430 neutrophil migration 9.7
431 pernicious anemia 9.7
432 pheochromocytoma 9.7
433 pityriasis rubra pilaris 9.7
434 porphyria cutanea tarda 9.7
435 small cell cancer of the lung 9.7
436 triiodothyronine receptor auxiliary protein 9.7
437 arterial calcification, generalized, of infancy, 1 9.7
438 complement component 2 deficiency 9.7
439 multiple pterygium syndrome, lethal type 9.7
440 polycythemia vera 9.7
441 insulin-like growth factor i 9.7
442 thymoma, familial 9.7
443 werner syndrome 9.7
444 premature ovarian failure 1 9.7
445 aging 9.7
446 gallbladder disease 1 9.7
447 cd4/cd8 t-cell ratio 9.7
448 stroke, ischemic 9.7
449 yemenite deaf-blind hypopigmentation syndrome 9.7
450 malignant atrophic papulosis 9.7
451 branchiootic syndrome 1 9.7
452 orthostatic intolerance 9.7
453 langerhans cell histiocytosis 9.7
454 nasopharyngeal carcinoma 9.7
455 gastric cancer 9.7
456 microcephaly, epilepsy, and diabetes syndrome 9.7
457 aortic valve disease 2 9.7
458 tendinitis 9.7
459 cryptogenic organizing pneumonia 9.7
460 cutaneous lupus erythematosus 9.7
461 restless legs syndrome 9.7
462 arrhythmogenic right ventricular cardiomyopathy 9.7
463 primary cutaneous amyloidosis 9.7
464 diffuse large b-cell lymphoma 9.7
465 metabolic acidosis 9.7
466 sinoatrial node disease 9.7
467 adrenal gland pheochromocytoma 9.7
468 immunoglobulin alpha deficiency 9.7
469 cutaneous t cell lymphoma 9.7
470 cholelithiasis 9.7
471 pleurisy 9.7
472 left bundle branch hemiblock 9.7
473 parotitis 9.7
474 endocarditis 9.7
475 hemiplegia 9.7
476 hydronephrosis 9.7
477 spondyloarthropathy 9.7
478 constrictive pericarditis 9.7
479 protein-energy malnutrition 9.7
480 multicentric reticulohistiocytosis 9.7
481 visual epilepsy 9.7
482 optic neuritis 9.7
483 goiter 9.7
484 secondary hyperparathyroidism 9.7
485 pyloric stenosis 9.7
486 hereditary hemorrhagic telangiectasia 9.7
487 branch retinal artery occlusion 9.7
488 uveitis 9.7
489 megaesophagus 9.7
490 porphyria 9.7
491 skin sarcoidosis 9.7
492 hyperparathyroidism 9.7
493 sick sinus syndrome 9.7
494 benign paroxysmal positional nystagmus 9.7
495 toxic shock syndrome 9.7
496 childhood type dermatomyositis 9.7
497 primary hypertrophic osteoarthropathy 9.7
498 norwegian scabies 9.7
499 ichthyosis 9.7
500 neuritis 9.7
501 optic nerve disease 9.7
502 leiomyosarcoma 9.7
503 rectum cancer 9.7
504 blood platelet disease 9.7
505 relapsing-remitting multiple sclerosis 9.7
506 thrombophilia 9.7
507 relapsing polychondritis 9.7
508 benign mesothelioma 9.7
509 euthyroid sick syndrome 9.7
510 acute pancreatitis 9.7
511 iga glomerulonephritis 9.7
512 thymoma 9.7
513 histiocytosis 9.7
514 mastocytosis 9.7
515 intermittent claudication 9.7
516 plexopathy 9.7
517 restrictive cardiomyopathy 9.7
518 pyoderma 9.7
519 macular retinal edema 9.7
520 ulnar neuropathy 9.7
521 proliferative glomerulonephritis 9.7
522 movement disease 9.7
523 central nervous system vasculitis 9.7
524 sleep disorder 9.7
525 lung oat cell carcinoma 9.7
526 subacute thyroiditis 9.7
527 gastrointestinal system disease 9.7
528 peritonitis 9.7
529 scabies 9.7
530 cataract 9.7
531 polycythemia 9.7
532 retinal artery occlusion 9.7
533 pyoderma gangrenosum 9.7
534 oropharynx cancer 9.7
535 subacute delirium 9.7
536 tongue cancer 9.7
537 bacterial pneumonia 9.7
538 rubella 9.7
539 lichen planus 9.7
540 iridocyclitis 9.7
541 encephalitis 9.7
542 aphthous stomatitis 9.7
543 pulmonary emphysema 9.7
544 eosinophilia-myalgia syndrome 9.7
545 acute graft versus host disease 9.7
546 amyloidosis aa 9.7
547 catastrophic antiphospholipid syndrome 9.7
548 chronic thromboembolic pulmonary hypertension 9.7
549 granulocytopenia 9.7
550 hyperacusis 9.7
551 lipodermatosclerosis 9.7
552 lymphangiectasis 9.7
553 papular mucinosis 9.7
554 pleuroparenchymal fibroelastosis 9.7
555 rheumatoid vasculitis 9.7
556 scleromyxedema 9.7
557 systemic necrotizing angitis 9.7
558 fainting 9.7
559 headache 9.7
560 seizure disorder 9.7
561 rare rheumatologic disease 9.7
562 secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease 9.7
563 pulmonary arterial hypertension associated with connective tissue disease 9.7
564 non-inflammatory vasculopathy 9.7
565 pik3ca-related overgrowth syndrome 9.7
566 pauci-immune glomerulonephritis 9.7
567 lymphedema 9.7
568 hyperpigmentation of the skin 9.7
569 refractory anemia 9.7
570 type i ehlers-danlos syndrome 9.7 COL1A2 COL1A1
571 fibrogenesis imperfecta ossium 9.7 COL1A2 COL1A1
572 atrioventricular dissociation 9.7
573 australia antigen 9.7
574 phenylketonuria 9.7
575 reticuloendotheliosis, x-linked 9.7
576 sickle cell anemia 9.7
577 systemic lupus erythematosus 4 9.7
578 sarcoidosis 3 9.7
579 brown syndrome 9.7
580 pulmonary aspergilloma 9.7
581 erythema multiforme 9.7
582 oculocutaneous albinism 9.7
583 schizotypal personality disorder 9.7
584 enophthalmos 9.7
585 pyelonephritis 9.7
586 lyme disease 9.7
587 focal segmental glomerulosclerosis 9.7
588 glossitis 9.7
589 personality disorder 9.7
590 mitral valve stenosis 9.7
591 hyperinsulinism 9.7
592 vulvar sarcoma 9.7
593 nocardiosis 9.7
594 kidney cancer 9.7
595 epidermolysis bullosa 9.7
596 hairy cell leukemia 9.7
597 lactic acidosis 9.7
598 granuloma annulare 9.7
599 porokeratosis 9.7
600 burning mouth syndrome 9.7
601 acute articular rheumatism 9.7
602 al amyloidosis 9.7
603 drug reaction with eosinophilia and systemic symptoms 9.7
604 kikuchi disease 9.7
605 mallory-weiss syndrome 9.7
606 mycetoma 9.7
607 st anthony's fire 9.7
608 dysphagia lusoria 9.7
609 classic ehlers-danlos syndrome 9.7 COL1A2 COL1A1
610 gliofibroma 9.7 COL1A2 COL1A1
611 ehlers-danlos syndrome, classic type, 1 9.7 COL1A2 COL1A1
612 biliary cirrhosis, primary, 1 9.7
613 coloboma of macula 9.7
614 hypertelorism 9.7
615 piebald trait 9.7
616 conotruncal heart malformations 9.7
617 abnormal hair, joint laxity, and developmental delay 9.7
618 abcd syndrome 9.7
619 phace association 9.7
620 patent ductus arteriosus 1 9.7
621 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.7
622 tendinosis 9.7
623 familial adenomatous polyposis 9.7
624 ptosis 9.7
625 migraine with aura 9.7
626 chronic endophthalmitis 9.7
627 intracranial aneurysm 9.7
628 cryptococcosis 9.7
629 central retinal artery occlusion 9.7
630 patent foramen ovale 9.7
631 protein s deficiency 9.7
632 chondroma 9.7
633 periarthritis 9.7
634 extraskeletal chondroma 9.7
635 hyperglycemia 9.7
636 hypertrichosis 9.7
637 reactive arthritis 9.7
638 dermatophytosis 9.7
639 hard palate cancer 9.7
640 waardenburg's syndrome 9.7
641 exophthalmos 9.7
642 albinism 9.7
643 encephalocele 9.7
644 hemiplegic migraine 9.7
645 hypoganglionosis 9.7
646 localized lipodystrophy 9.7
647 spondylarthropathy 9.7
648 sporadic hemiplegic migraine 9.7
649 hypotonia 9.7
650 nodular cutaneous amyloidosis 9.7
651 congenital ectropion uveae 9.7
652 congenital ectropion 9.7
653 inguinal hernia 9.6 FBN1 COL1A1 CD36
654 x-linked alport syndrome 9.6 COL1A2 COL1A1
655 cole-carpenter syndrome 9.6 COL1A2 COL1A1
656 acanthosis nigricans 9.6
657 pfeiffer syndrome 9.6
658 acromicric dysplasia 9.6
659 alcohol dependence 9.6
660 ankyloglossia with or without tooth anomalies 9.6
661 annular erythema 9.6
662 b-cell growth factor 9.6
663 aortic valve disease 1 9.6
664 epidermolytic hyperkeratosis 9.6
665 colorectal cancer 9.6
666 hepatocellular carcinoma 9.6
667 felty syndrome 9.6
668 myhre syndrome 9.6
669 hypertension, essential 9.6
670 ige responsiveness, atopic 9.6
671 intussusception 9.6
672 keratitis, hereditary 9.6
673 chromosome 8q22.1 duplication syndrome 9.6
674 meniere disease 9.6
675 mesothelioma, malignant 9.6
676 nondisjunction 9.6
677 facioscapulohumeral muscular dystrophy 1 9.6
678 obsessive-compulsive disorder 9.6
679 ovarian cancer 9.6
680 nephrolithiasis, calcium oxalate 9.6
681 papillomatosis, confluent and reticulated 9.6
682 parkinson disease, late-onset 9.6
683 retinitis pigmentosa 9 9.6
684 spinocerebellar ataxia 6 9.6
685 thrombophilia due to activated protein c resistance 9.6
686 thyroid cancer, nonmedullary, 2 9.6
687 thyroid cancer, nonmedullary, 1 9.6
688 wilms tumor 1 9.6
689 wolff-parkinson-white syndrome 9.6
690 anemia, autoimmune hemolytic 9.6
691 anemia, hypochromic microcytic, with iron overload 1 9.6
692 ataxia-telangiectasia 9.6
693 cystinuria 9.6
694 diabetes mellitus, insulin-dependent 9.6
695 factor x deficiency 9.6
696 fibrosclerosis, multifocal 9.6
697 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 9.6
698 hypogonadism, male 9.6
699 immune deficiency disease 9.6
700 chylomicron retention disease 9.6
701 mycosis fungoides 9.6
702 ocular motor apraxia 9.6
703 interstitial pneumonitis, desquamative, familial 9.6
704 gitelman syndrome 9.6
705 pseudoxanthoma elasticum 9.6
706 graves disease 1 9.6
707 fabry disease 9.6
708 androgen insensitivity, partial 9.6
709 frontotemporal dementia 9.6
710 wilms tumor 5 9.6
711 systemic lupus erythematosus 1 9.6
712 astigmatism 9.6
713 macular degeneration, age-related, 1 9.6
714 ventricular fibrillation, paroxysmal familial, 1 9.6
715 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 9.6
716 inflammatory bowel disease 7 9.6
717 lymphangioleiomyomatosis 9.6
718 spastic paraplegia, ataxia, and mental retardation 9.6
719 dermatofibrosarcoma protuberans 9.6
720 mycobacterium tuberculosis 1 9.6
721 hypertensive nephropathy 9.6
722 endometrial cancer 9.6
723 kala-azar 1 9.6
724 autoimmune disease 2 9.6
725 carotid intimal medial thickness 2 9.6
726 granulomatosis with polyangiitis 9.6
727 human immunodeficiency virus type 1 9.6
728 hepatitis c virus 9.6
729 systemic lupus erythematosus 8 9.6
730 esophagitis, eosinophilic, 1 9.6
731 pulmonary alveolar proteinosis, acquired 9.6
732 legius syndrome 9.6
733 sarcoidosis 2 9.6
734 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 9.6
735 systemic lupus erythematosus 14 9.6
736 ectodermal dysplasia-syndactyly syndrome 2 9.6
737 cholangitis, primary sclerosing 9.6
738 aspergillosis 9.6
739 myelodysplastic syndrome 9.6
740 myopathy due to myoadenylate deaminase deficiency 9.6
741 chorea, childhood-onset, with psychomotor retardation 9.6
742 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 9.6
743 chronic ulcer of skin 9.6
744 autoimmune gastritis 9.6
745 autoimmune pancreatitis 9.6
746 drug-induced lupus erythematosus 9.6
747 autoimmune vasculitis 9.6
748 swine influenza 9.6
749 adult t-cell leukemia 9.6
750 hypochromic microcytic anemia 9.6
751 vitamin b12 deficiency 9.6
752 mantle cell lymphoma 9.6
753 peripheral t-cell lymphoma 9.6
754 third-degree atrioventricular block 9.6
755 sleep apnea 9.6
756 infective endocarditis 9.6
757 aphasia 9.6
758 alexithymia 9.6
759 ischemic colitis 9.6
760 microscopic colitis 9.6
761 crohn's colitis 9.6
762 atrial fibrillation 9.6
763 basal ganglia calcification 9.6
764 angular cheilitis 9.6
765 dental abscess 9.6
766 drug allergy 9.6
767 lymphoproliferative syndrome 9.6
768 muscular disease 9.6
769 myoglobinuria 9.6
770 renal hypoplasia 9.6
771 nodal marginal zone lymphoma 9.6
772 igg4-related disease 9.6
773 thyroid gland anaplastic carcinoma 9.6
774 angioimmunoblastic t-cell lymphoma 9.6
775 thyroid lymphoma 9.6
776 pigmentation disease 9.6
777 dry eye syndrome 9.6
778 mumps 9.6
779 caplan's syndrome 9.6
780 siderosis 9.6
781 nasopharyngitis 9.6
782 osteomalacia 9.6
783 fanconi syndrome 9.6
784 interstitial nephritis 9.6
785 open-angle glaucoma 9.6
786 filariasis 9.6
787 lepromatous leprosy 9.6
788 strongyloidiasis 9.6
789 pinguecula 9.6
790 q fever 9.6
791 sarcoma 9.6
792 t cell deficiency 9.6
793 social phobia 9.6
794 mobitz type ii atrioventricular block 9.6
795 pneumocystosis 9.6
796 adult respiratory distress syndrome 9.6
797 hypertensive retinopathy 9.6
798 retinal vasculitis 9.6
799 portal vein thrombosis 9.6
800 coronary artery vasospasm 9.6
801 coronary thrombosis 9.6
802 ischemic neuropathy 9.6
803 hemosiderosis 9.6
804 pulmonary alveolar proteinosis 9.6
805 dysthymic disorder 9.6
806 tympanosclerosis 9.6
807 chagas disease 9.6
808 common variable immunodeficiency 9.6
809 punctate epithelial keratoconjunctivitis 9.6
810 bronchopneumonia 9.6
811 tarsal tunnel syndrome 9.6
812 hepatitis a 9.6
813 acute kidney tubular necrosis 9.6
814 quadriplegia 9.6
815 guillain-barre syndrome 9.6
816 choreatic disease 9.6
817 sialolithiasis 9.6
818 endomyocardial fibrosis 9.6
819 paronychia 9.6
820 tooth resorption 9.6
821 exocrine pancreatic insufficiency 9.6
822 pure red-cell aplasia 9.6
823 cardiac sarcoidosis 9.6
824 scleritis 9.6
825 tuberous sclerosis 9.6
826 obstructive jaundice 9.6
827 squamous cell papilloma 9.6
828 amenorrhea 9.6
829 poems syndrome 9.6
830 blue toe syndrome 9.6
831 sclerosing cholangitis 9.6
832 neurogenic arthropathy 9.6
833 generalized anxiety disorder 9.6
834 pyuria 9.6
835 autosomal dominant cerebellar ataxia 9.6
836 echinococcosis 9.6
837 disease of mental health 9.6
838 pleural disease 9.6
839 angioedema 9.6
840 renovascular hypertension 9.6
841 lymphadenitis 9.6
842 retinal vein occlusion 9.6
843 facial hemiatrophy 9.6
844 cheilitis 9.6
845 toxic megacolon 9.6
846 viral hepatitis 9.6
847 rectum adenocarcinoma 9.6
848 hepatitis b 9.6
849 hyperostosis 9.6
850 intestinal perforation 9.6
851 vulvar melanoma 9.6
852 b cell deficiency 9.6
853 myeloproliferative neoplasm 9.6
854 transient cerebral ischemia 9.6
855 ankylosis 9.6
856 motor neuron disease 9.6
857 wernicke encephalopathy 9.6
858 acromegaly 9.6
859 central retinal vein occlusion 9.6
860 retinal vascular disease 9.6
861 angiodysplasia 9.6
862 basal cell carcinoma 9.6
863 hemangioma 9.6
864 larynx cancer 9.6
865 papilloma 9.6
866 transitional cell carcinoma 9.6
867 capillary hemangioma 9.6
868 acute interstitial pneumonia 9.6
869 acalculous cholecystitis 9.6
870 endometriosis 9.6
871 membranoproliferative glomerulonephritis 9.6
872 inner ear disease 9.6
873 anuria 9.6
874 churg-strauss syndrome 9.6
875 glioblastoma multiforme 9.6
876 gingivitis 9.6
877 thoracic outlet syndrome 9.6
878 demyelinating disease 9.6
879 central nervous system lymphoma 9.6
880 lipid pneumonia 9.6
881 thymic carcinoma 9.6
882 bone inflammation disease 9.6
883 cerebritis 9.6
884 mammary paget's disease 9.6
885 breast adenocarcinoma 9.6
886 breast disease 9.6
887 aortic aneurysm 9.6
888 pituitary adenoma 9.6
889 placental insufficiency 9.6
890 thyroid gland follicular carcinoma 9.6
891 thyroid gland papillary carcinoma 9.6
892 bladder urothelial carcinoma 9.6
893 nail disease 9.6
894 syphilis 9.6
895 hair disease 9.6
896 spindle cell sarcoma 9.6
897 neuromuscular disease 9.6
898 hepatitis e 9.6
899 seminoma 9.6
900 hypokalemia 9.6
901 uremia 9.6
902 endophthalmitis 9.6
903 gastric neuroendocrine neoplasm 9.6
904 intracranial hypotension 9.6
905 vasculogenic impotence 9.6
906 pulmonary blastoma 9.6
907 embryoma 9.6
908 tubular adenocarcinoma 9.6
909 elephantiasis 9.6
910 arteriosclerosis obliterans 9.6
911 ureteral obstruction 9.6
912 urinary tract obstruction 9.6
913 chronic polyneuropathy 9.6
914 paget's disease of bone 9.6
915 volkmann contracture 9.6
916 diffuse pulmonary fibrosis 9.6
917 pleomorphic carcinoma 9.6
918 retinal disease 9.6
919 median neuropathy 9.6
920 extragonadal seminoma 9.6
921 septal myocardial infarction 9.6
922 inferior myocardial infarction 9.6
923 paraplegia 9.6
924 mitral valve disease 9.6
925 hypersplenism 9.6
926 gastric small cell carcinoma 9.6
927 adenoma 9.6
928 diffuse idiopathic skeletal hyperostosis 9.6
929 myositis ossificans 9.6
930 compartment syndrome 9.6
931 t-cell leukemia 9.6
932 axonal neuropathy 9.6
933 malignant pleural mesothelioma 9.6
934 active peptic ulcer disease 9.6
935 peptic ulcer disease 9.6
936 delusional disorder 9.6
937 placenta disease 9.6
938 cocaine abuse 9.6
939 corneal ulcer 9.6
940 actinomycosis 9.6
941 mucormycosis 9.6
942 measles 9.6
943 chickenpox 9.6
944 erythema infectiosum 9.6
945 pyomyositis 9.6
946 intermediate coronary syndrome 9.6
947 atrophic gastritis 9.6
948 leishmaniasis 9.6
949 macroglobulinemia 9.6
950 cutaneous leishmaniasis 9.6
951 mucocutaneous leishmaniasis 9.6
952 ocular hypertension 9.6
953 scotoma 9.6
954 hypopituitarism 9.6
955 diabetes insipidus 9.6
956 blepharitis 9.6
957 intracranial hypertension 9.6
958 necrotizing fasciitis 9.6
959 stomatitis 9.6
960 cervical incompetence 9.6
961 diabetic neuropathy 9.6
962 diastolic heart failure 9.6
963 hypersensitivity vasculitis 9.6
964 alopecia areata 9.6
965 miliary tuberculosis 9.6
966 muscular dystrophy 9.6
967 toxoplasmosis 9.6
968 heritable pulmonary arterial hypertension 9.6
969 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 9.6
970 sickle cell disease 9.6
971 acquired hemophilia 9.6
972 allergic angiitis 9.6
973 angiosarcoma of the scalp 9.6
974 antisynthetase syndrome 9.6
975 auditory neuropathy spectrum disorder 9.6
976 autoimmune encephalitis 9.6
977 autoimmune inner ear disease 9.6
978 autoimmune myocarditis 9.6
979 cold agglutinin disease 9.6
980 cutaneous polyarteritis nodosa 9.6
981 erythrokeratoderma ''en cocardes'' 9.6
982 glioma 9.6
983 grover's disease 9.6
984 ichthyosis, acquired 9.6
985 jackhammer esophagus 9.6
986 juvenile temporal arteritis 9.6
987 lathyrism 9.6
988 leiner disease 9.6
989 limbic encephalitis 9.6
990 macrophage activation syndrome 9.6
991 malakoplakia 9.6
992 oral cancer 9.6
993 primary central nervous system lymphoma 9.6
994 pseudoainhum 9.6
995 remitting seronegative symmetrical synovitis with pitting edema 9.6
996 soft tissue sarcoma 9.6
997 stevens-johnson syndrome/toxic epidermal necrolysis 9.6
998 sudden sensorineural hearing loss 9.6
999 superficial siderosis of the central nervous system 9.6
1000 systemic onset juvenile idiopathic arthritis 9.6
1001 wells syndrome 9.6
1002 brain injury 9.6
1003 central cord syndrome 9.6
1004 cerebral aneurysms 9.6
1005 cerebral atrophy 9.6
1006 cerebral beriberi 9.6
1007 foot drop 9.6
1008 spinal cord injury 9.6
1009 swallowing disorders 9.6
1010 tremor 9.6
1011 subacute cutaneous lupus erythematosus 9.6
1012 glial tumor 9.6
1013 vulvar intraepithelial neoplasia 9.6
1014 macular amyloidosis 9.6
1015 rapidly involuting congenital hemangioma 9.6
1016 superficial siderosis 9.6
1017 autosomal dominant epidermolytic ichthyosis 9.6
1018 drug-induced vasculitis 9.6
1019 pulmonary arterial hypertension associated with congenital heart disease 9.6
1020 overlap myositis 9.6
1021 specific language disorder 9.6
1022 toxic oil syndrome 9.6
1023 igg4-related mesenteritis 9.6
1024 chronic intestinal failure 9.6
1025 neonatal scleroderma 9.6
1026 spontaneous intracranial hypotension 9.6
1027 rare pulmonary hypertension 9.6
1028 igg4-related thyroid disease 9.6
1029 premature aging 9.6
1030 cardiogenic shock 9.6
1031 autoinflammatory syndrome 9.6
1032 primary mediastinal large b-cell lymphoma 9.6
1033 red cell aplasia 9.6
1034 polyendocrinopathy 9.6
1035 idiopathic scoliosis 9.6 FBN1 COL1A2
1036 stickler syndrome 9.4 FBN1 COL1A2 COL1A1
1037 bone structure disease 9.4 FBN1 COL1A2 COL1A1
1038 osteogenesis imperfecta, type v 9.4 COL1A2 COL1A1 CD36
1039 osteogenesis imperfecta, type vii 9.4 COL1A2 COL1A1 CD36
1040 bruck syndrome 9.4 COL1A2 COL1A1 CD36
1041 caffey disease 9.4 COL1A2 COL1A1 CD36
1042 osteogenesis imperfecta, type i 9.3 COL1A2 COL1A1 CD36
1043 osteoporosis, juvenile 9.3 COL1A2 COL1A1 CD36
1044 osteogenesis imperfecta, type ii 9.3 COL1A2 COL1A1 CD36
1045 osteogenesis imperfecta, type iv 9.3 COL1A2 COL1A1 CD36
1046 osteogenesis imperfecta, type iii 9.3 COL1A2 COL1A1 CD36
1047 otosclerosis 9.3 COL1A2 COL1A1 CD36
1048 brittle bone disorder 9.0 FBN1 COL1A2 COL1A1 CD36
1049 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 65, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002017
2 arthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001369
3 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
4 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
5 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
6 hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000962
7 edema 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000969
8 lack of skin elasticity 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0100679
9 chondrocalcinosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000934
10 autoimmunity 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002960
11 myalgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003326
12 cough 58 31 hallmark (90%) Very frequent (99-80%) HP:0012735
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 gastroparesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002578
16 abnormality of the gastric mucosa 58 31 hallmark (90%) Very frequent (99-80%) HP:0004295
17 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
18 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
19 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
20 pulmonary fibrosis 58 31 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0002206
21 telangiectasia of the skin 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0100585
22 papule 58 31 frequent (33%) Frequent (79-30%) HP:0200034
23 skin ulcer 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0200042
24 xerostomia 58 31 frequent (33%) Frequent (79-30%) HP:0000217
25 pericarditis 58 31 frequent (33%) Frequent (79-30%) HP:0001701
26 pulmonary infiltrates 58 31 frequent (33%) Frequent (79-30%) HP:0002113
27 cachexia 58 31 frequent (33%) Frequent (79-30%) HP:0004326
28 mucosal telangiectasiae 58 31 frequent (33%) Frequent (79-30%) HP:0100579
29 myositis 58 31 frequent (33%) Frequent (79-30%) HP:0100614
30 gangrene 58 31 frequent (33%) Frequent (79-30%) HP:0100758
31 myocardial fibrosis 58 31 frequent (33%) Frequent (79-30%) HP:0001685
32 joint dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001373
33 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
34 bowel incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0002607
35 feeding difficulties in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008872
36 arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011675
37 angina pectoris 58 31 occasional (7.5%) Occasional (29-5%) HP:0001681
38 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002092
39 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
40 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
41 osteomyelitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002754
42 osteolysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002797
43 erectile abnormalities 58 31 occasional (7.5%) Occasional (29-5%) HP:0100639
44 migraine 58 31 occasional (7.5%) Occasional (29-5%) HP:0002076
45 irregular hyperpigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007400
46 hypertensive crisis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100735
47 tendon rupture 58 31 occasional (7.5%) Occasional (29-5%) HP:0100550
48 tetralogy of fallot with atrioventricular canal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0011677
49 sclerodactyly 58 31 Very frequent (99-80%) HP:0011838
50 calcinosis 58 31 Very frequent (99-80%) HP:0003761
51 hypertension 58 Frequent (79-30%)
52 dysphagia 58 Frequent (79-30%)
53 generalized abnormality of skin 58 Very frequent (99-80%)
54 dyspnea 58 Frequent (79-30%)
55 weight loss 58 Very frequent (99-80%)
56 abnormality of skin pigmentation 58 Frequent (79-30%)
57 abnormality of chromosome stability 31 HP:0003220
58 stiff skin 58 Very frequent (99-80%)
59 scleroderma 31 HP:0100324
60 telangiectasia 31 HP:0001009
61 epigastric auras 58 Very frequent (99-80%)
62 abnormal fingertip morphology 58 Very frequent (99-80%)
63 lip telangiectasia 58 Frequent (79-30%)
64 abnormality of abdomen morphology 31 HP:0001438
65 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 290, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
2
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
3
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
4
Norepinephrine Approved Phase 4 51-41-2 439260
5
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
6
Macitentan Approved Phase 4 441798-33-0
7 Immunologic Factors Phase 4
8 Phosphodiesterase 5 Inhibitors Phase 4
9 Phosphodiesterase Inhibitors Phase 4
10 Immunosuppressive Agents Phase 4
11 Anesthetics, Local Phase 4
12 Central Nervous System Depressants Phase 4
13 Autonomic Agents Phase 4
14 Neurotransmitter Agents Phase 4
15 Antiprotozoal Agents Phase 4
16 Antiparasitic Agents Phase 4
17 Vaccines Phase 4
18 Sympathomimetics Phase 4
19 Adrenergic Agents Phase 4
20 Adrenergic Agonists Phase 4
21 Vasoconstrictor Agents Phase 4
22 Fibrinolytic Agents Phase 4
23 Anti-Inflammatory Agents, Non-Steroidal Phase 4
24 Cyclooxygenase Inhibitors Phase 4
25 Endothelin Receptor Antagonists Phase 4
26 Endothelin A Receptor Antagonists Phase 4
27 Omega 3 Fatty Acid Phase 4
28
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 12035
29
Sodium citrate Approved, Investigational Phase 3 68-04-2
30
Methocarbamol Approved, Vet_approved Phase 3 532-03-6 4107
31
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
32
Lactulose Approved Phase 3 4618-18-2 11333
33
Nitroglycerin Approved, Investigational Phase 2, Phase 3 55-63-0 4510
34
Imiquimod Approved, Investigational Phase 3 99011-02-6 57469
35 Brodalumab Approved, Investigational Phase 3 1174395-19-7
36
Acetylcholine Approved, Investigational Phase 3 51-84-3 187
37
Pirfenidone Approved, Investigational Phase 3 53179-13-8 40632
38
Nintedanib Approved Phase 3 656247-17-5 56843413
39
Prilocaine Approved Phase 3 721-50-6 4906
40
Nitrous oxide Approved, Vet_approved Phase 3 10024-97-2 948
41
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
42
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
43
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
44 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
45
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
46
Mesna Approved, Investigational Phase 2, Phase 3 3375-50-6 598
47
Fludarabine Approved Phase 3 21679-14-1, 75607-67-9 30751
48
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
49
Sargramostim Approved, Investigational Phase 2, Phase 3 83869-56-1, 123774-72-1
50
Ifosfamide Approved Phase 2, Phase 3 3778-73-2 3690
51
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
52
Cyclophosphamide Approved, Investigational Phase 3 6055-19-2, 50-18-0 2907
53
Bupivacaine Approved, Investigational Phase 2, Phase 3 2180-92-9, 38396-39-3 2474
54
Leuprolide Approved, Investigational Phase 3 53714-56-0 657181 3911
55
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
56
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
57 Fasudil Investigational Phase 3 103745-39-7
58
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
59 N-monoacetylcystine Phase 2, Phase 3
60 Expectorants Phase 2, Phase 3
61 Bifidobacterium Phase 3
62 Vasodilator Agents Phase 2, Phase 3
63 Sildenafil Citrate Phase 3 171599-83-0
64 Citrate Phase 3
65 Calcium, Dietary Phase 3
66 calcium channel blockers Phase 3
67 Hypolipidemic Agents Phase 3
68 Anticholesteremic Agents Phase 3
69 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
70 Lipid Regulating Agents Phase 3
71 Rosuvastatin Calcium Phase 3 147098-20-2
72 Anticoagulants Phase 3
73 Anti-Ulcer Agents Phase 3
74 Antacids Phase 3
75 Dopamine Antagonists Phase 3
76 1-(5-Isoquinolinesulfonyl)-2-Methylpiperazine Phase 3
77 interferons Phase 3
78 Interferon Inducers Phase 3
79 insulin Phase 3
80 Insulin, Globin Zinc Phase 3
81 Neuromuscular Agents Phase 3
82 abobotulinumtoxinA Phase 3
83 Acetylcholine Release Inhibitors Phase 3
84 Botulinum Toxins Phase 3
85 Cholinergic Agents Phase 3
86 Botulinum Toxins, Type A Phase 3
87 Anti-Arrhythmia Agents Phase 3
88 Sodium Channel Blockers Phase 3
89 Diuretics, Potassium Sparing Phase 3
90 Anesthetics, General Phase 3
91 Anesthetics, Inhalation Phase 3
92 Lidocaine, Prilocaine Drug Combination Phase 3
93 Antimetabolites Phase 3
94 Anti-Inflammatory Agents Phase 2, Phase 3
95 glucocorticoids Phase 2, Phase 3
96 Hormone Antagonists Phase 2, Phase 3
97 Hormones Phase 3
98 Rho(D) Immune Globulin Phase 2, Phase 3
99 gamma-Globulins Phase 2, Phase 3
100 Immunoglobulins, Intravenous Phase 2, Phase 3
101 Gastrointestinal Agents Phase 2, Phase 3
102 Antiemetics Phase 2, Phase 3
103 Neuroprotective Agents Phase 2, Phase 3
104 Methylprednisolone Acetate Phase 2, Phase 3
105 Antilymphocyte Serum Phase 2, Phase 3
106 Thymoglobulin Phase 2, Phase 3
107 polysaccharide-K Phase 2, Phase 3
108
Isophosphamide mustard Phase 2, Phase 3 0
109 Adjuvants, Immunologic Phase 3
110 Antihypertensive Agents Phase 3
111 Antirheumatic Agents Phase 3
112 Alkylating Agents Phase 3
113 Antineoplastic Agents, Hormonal Phase 3
114 Fertility Agents Phase 3
115 Orange Approved Phase 2
116
Selexipag Approved Phase 2 475086-01-2
117
leucovorin Approved Phase 1, Phase 2 58-05-9 6006 143
118
Riociguat Approved Phase 2 625115-55-1
119
Alprostadil Approved, Investigational Phase 2 745-65-3 149351 5280723
120
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177 70789204
121
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
122
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189