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MCID: SCL052
MIFTS: 68

Scleroderma, Familial Progressive

Categories: Bone diseases, Genetic diseases, Immune diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Scleroderma, Familial Progressive

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MalaCards integrated aliases for Scleroderma, Familial Progressive:

Name: Scleroderma, Familial Progressive 57
Systemic Sclerosis 57 76 59 37
Systemic Scleroderma 59 73
Crest Syndrome 59 73
Calcinosis-Raynaud Phenomenon-Esophageal Involvement-Sclerodactyly-Telangiectasia Syndrome 59
Systemic Sclerosis, Susceptibility to 57
Sclerosis Systemic 55

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal dominant form


HPO:

32
scleroderma, familial progressive:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases Nephrological diseases Respiratory diseases Bone diseases Skin diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 34 33
Orphanet: 59  
Rare neurological diseases
Rare renal diseases
Rare respiratory diseases
Rare systemic and rhumatological diseases
Rare skin diseases


Sources

Summaries for Scleroderma, Familial Progressive

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OMIM : 57 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)

MalaCards based summary : Scleroderma, Familial Progressive, also known as systemic sclerosis, is related to diffuse scleroderma and systemic scleroderma, and has symptoms including pruritus, exanthema and hidebound skin. An important gene associated with Scleroderma, Familial Progressive is TOP1 (DNA Topoisomerase I), and among its related pathways/superpathways are Binding and Uptake of Ligands by Scavenger Receptors and AGE-RAGE signaling pathway in diabetic complications. The drugs Bupivacaine and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and endothelial, and related phenotypes are joint dislocation and seizures

Wikipedia : 76 Systemic scleroderma, also called diffuse scleroderma or systemic sclerosis, is an autoimmune disease of... more...

Sources

Related Diseases for Scleroderma, Familial Progressive

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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:

(show top 50) (show all 502)
# Related Disease Score Top Affiliating Genes
1 diffuse scleroderma 32.6 COL1A1 TOP1
2 systemic scleroderma 32.5 EDN1 FBN1 TOP1
3 pulmonary hypertension, primary, 1 30.8 BMP6 EDN1 FBN1
4 raynaud phenomenon 30.3 APOH EDN1
5 pulmonary fibrosis, idiopathic 30.1 BMP6 CD36 EDN1
6 mixed connective tissue disease 30.1 APOH RNPC3
7 raynaud disease 30.0 EDN1 TOP1
8 vascular disease 29.9 APOH BMP6 EDN1
9 rheumatic disease 29.6 APOH RNPC3 TOP1
10 marfan syndrome 29.6 BMP6 COL1A2 FBN1
11 connective tissue disease 29.5 APOH COL1A1 COL1A2 EDN1 FBN1 RNPC3
12 collagen disease 29.3 COL1A1 COL1A2 EDN1 FBN1 TOP1
13 diffuse cutaneous systemic sclerosis 12.6
14 limited scleroderma 12.3
15 pulmonary systemic sclerosis 12.3
16 reynolds syndrome 11.3
17 gastric antral vascular ectasia 11.3
18 crest syndrome 11.3
19 adrenoleukodystrophy 11.2
20 telangiectasia, hereditary hemorrhagic, type 4 10.9
21 hemolytic uremic syndrome, atypical 1 10.9
22 lung disease 10.7
23 interstitial lung disease 10.7
24 calcinosis 10.5
25 lupus erythematosus 10.5
26 systemic lupus erythematosus 10.4
27 pulmonary hypertension 10.4
28 pulmonary fibrosis 10.4
29 arthritis 10.4
30 localized scleroderma 10.4
31 rheumatoid arthritis 10.3
32 polymyositis 10.2
33 vasculitis 10.2
34 primary biliary cholangitis 10.2
35 biliary cirrhosis, primary, 1 10.2
36 primary biliary cirrhosis 10.2
37 pneumonia 10.2
38 extrinsic allergic alveolitis 10.2
39 nontuberculous mycobacterial lung disease 10.2 BMP6 FBN1
40 aortic coarctation 10.2 EDN1 FBN1
41 hypermobile ehlers-danlos syndrome 10.2 COL1A1 FBN1
42 scleredema 10.1
43 hypertrophic scars 10.1 BMP6 CD36
44 dermatomyositis 10.1
45 ehlers-danlos syndrome, classic type, 2 10.1 CD36 COL1A1
46 ehlers-danlos/osteogenesis imperfecta syndrome 10.1 COL1A1 COL1A2
47 idiopathic hypercalciuria 10.1 BMP6 EDN1
48 skin disease 10.1
49 intestinal pseudo-obstruction 10.1
50 stiff skin syndrome 10.1 COL1A2 FBN1

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



Diseases related to Scleroderma, Familial Progressive
Sources

Symptoms & Phenotypes for Scleroderma, Familial Progressive

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Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Scleroderma, Familial Progressive:

59 32 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001373
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002017
4 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
5 bowel incontinence 59 32 occasional (7.5%) Occasional (29-5%) HP:0002607
6 arthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001369
7 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
8 malabsorption 59 32 frequent (33%) Frequent (79-30%) HP:0002024
9 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
10 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
11 pulmonary fibrosis 59 32 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0002206
12 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
13 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
14 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
15 angina pectoris 59 32 occasional (7.5%) Occasional (29-5%) HP:0001681
16 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002092
17 hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000962
18 edema 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000969
19 peripheral neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009830
20 lack of skin elasticity 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0100679
21 atypical scarring of skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000987
22 autoimmunity 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002960
23 skin ulcer 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0200042
24 migraine 59 32 occasional (7.5%) Occasional (29-5%) HP:0002076
25 gastroparesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002578
26 myalgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003326
27 cachexia 59 32 frequent (33%) Frequent (79-30%) HP:0004326
28 mucosal telangiectasiae 59 32 frequent (33%) Frequent (79-30%) HP:0100579
29 telangiectasia of the skin 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0100585
30 xerostomia 59 32 frequent (33%) Frequent (79-30%) HP:0000217
31 irregular hyperpigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007400
32 narrow mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000160
33 hypertensive crisis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100735
34 osteomyelitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002754
35 chest pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0100749
36 pericarditis 59 32 frequent (33%) Frequent (79-30%) HP:0001701
37 cough 59 32 hallmark (90%) Very frequent (99-80%) HP:0012735
38 abnormality of the gastric mucosa 59 32 hallmark (90%) Very frequent (99-80%) HP:0004295
39 erectile abnormalities 59 32 occasional (7.5%) Occasional (29-5%) HP:0100639
40 osteolysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002797
41 papule 59 32 frequent (33%) Frequent (79-30%) HP:0200034
42 chondrocalcinosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000934
43 myositis 59 32 frequent (33%) Frequent (79-30%) HP:0100614
44 gangrene 59 32 frequent (33%) Frequent (79-30%) HP:0100758
45 tendon rupture 59 32 occasional (7.5%) Occasional (29-5%) HP:0100550
46 pulmonary infiltrates 59 32 frequent (33%) Frequent (79-30%) HP:0002113
47 myocardial fibrosis 59 32 frequent (33%) Frequent (79-30%) HP:0001685
48 sclerodactyly 59 32 Very frequent (99-80%) HP:0011838
49 calcinosis 59 32 Very frequent (99-80%) HP:0003761
50 tetralogy of fallot with atrioventricular canal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0011677

UMLS symptoms related to Scleroderma, Familial Progressive:


pruritus, exanthema, hidebound skin

MGI Mouse Phenotypes related to Scleroderma, Familial Progressive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.35 CD36 COL1A1 COL1A2 EDN1 FBN1
2 skeleton MP:0005390 9.17 AIF1 BMP6 CD36 COL1A1 COL1A2 EDN1
Sources

Drugs & Therapeutics for Scleroderma, Familial Progressive

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupivacaine Approved, Investigational Phase 2, Phase 3 2180-92-9, 38396-39-3 2474
2 Anesthetics Phase 2, Phase 3,Not Applicable
3 Central Nervous System Depressants Phase 2, Phase 3
4 Anesthetics, Local Phase 2, Phase 3
5 Peripheral Nervous System Agents Phase 2, Phase 3
6
Epinephrine Approved, Vet_approved Not Applicable 51-43-4 5816
7
Ropivacaine Approved Not Applicable 84057-95-4 175805 71273
8
Racepinephrine Approved Not Applicable 329-65-7 838
9 Pharmaceutical Solutions Not Applicable
10 Epinephryl borate Not Applicable
11 Analgesics Not Applicable
12 Analgesics, Opioid Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Exparel as a Nerve Block for Severe Hand Pain Terminated NCT02374320 Phase 2, Phase 3 liposomal bupivacaine
2 Transversalis Fascial Plane Nerve Block in Iliac Crest Bone Graft Completed NCT01133730 Not Applicable Active treatment;Placebo Arm

Search NIH Clinical Center for Scleroderma, Familial Progressive

Inferred drug relations via UMLS 73 / NDF-RT 51 :
Sources

Genetic Tests for Scleroderma, Familial Progressive

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Anatomical Context for Scleroderma, Familial Progressive

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MalaCards organs/tissues related to Scleroderma, Familial Progressive:

41
Lung, Skin, Endothelial, T Cells, Heart, Testes, Kidney
Sources

Publications for Scleroderma, Familial Progressive

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Articles related to Scleroderma, Familial Progressive:

(show top 50) (show all 3066)
# Title Authors Year
1
Hemodynamic changes after acute fluid loading in patients with systemic sclerosis without pulmonary hypertension. ( 30419796 )
2019
2
Urinary and plasma metabolite differences detected by HPLC-ESI-QTOF-MS in systemic sclerosis patients. ( 30227356 )
2019
3
The burden of depression in systemic sclerosis patients: a nationwide population-based study. ( 30268959 )
2019
4
Patient acceptable symptom state in scleroderma: results from the tocilizumab compared with placebo trial in active diffuse cutaneous systemic sclerosis. ( 29077900 )
2018
5
Right Ventricular Myofilament Functional Differences in Humans with Systemic Sclerosis-associated versus Idiopathic Pulmonary Arterial Hypertension. ( 29352073 )
2018
6
Calcinosis cutis universalis in systemic sclerosis. ( 29451139 )
2018
7
Systemic sclerosis associated interstitial lung disease - individualized immunosuppressive therapy and course of lung function: results of the EUSTAR group. ( 29382380 )
2018
8
Lymphedema secondary to limited cutaneous systemic sclerosis. ( 29909388 )
2018
9
Erasmus syndrome: systemic sclerosis and silicosis co-occurrence. ( 29667340 )
2018
10
Pain threshold and temporomandibular function in systemic sclerosis: comparison with psoriatic arthritis. ( 29445986 )
2018
11
Systemic sclerosis and sarcoidosis: a rare case of chronic intestinal pseudo-obstruction. ( 29699402 )
2018
12
The Four Corners Sign: A Specific Imaging Feature in Differentiating Systemic Sclerosis-related Interstitial Lung Disease From Idiopathic Pulmonary Fibrosis. ( 29346191 )
2018
13
Crusted Scabies in Systemic Sclerosis with Plasma Cell Dyscrasia. ( 29854644 )
2018
14
Disability, fatigue, pain and their associates in early diffuse cutaneous systemic sclerosis: the European Scleroderma Observational Study. ( 29207002 )
2018
15
Expression of TLR7, TLR9, JAK2, and STAT3 genes in peripheral blood mononuclear cells from patients with systemic sclerosis. ( 29147913 )
2018
16
Hand functions in systemic sclerosis and rheumatoid arthritis and influence on clinical variables. ( 28322506 )
2018
17
KL-6 But Not CCL-18 Is a Predictor of Early Progression in Systemic Sclerosis-related Interstitial Lung Disease. ( 29961690 )
2018
18
Erasmus Syndrome: Association of Silicosis and Systemic Sclerosis. ( 29854640 )
2018
19
Radiological pleuroparenchymal fibroelastosis associated to limited cutaneous systemic sclerosis: a case report. ( 29776440 )
2018
20
Symptoms of Autonomic Dysfunction in Systemic Sclerosis Assessed by the COMPASS-31 Questionnaire. ( 29907667 )
2018
21
Ulnar Neuropathy in a Patient with Systemic Sclerosis. ( 29079402 )
2018
22
Ischaemic ulcers on the toes secondary to Raynaud phenomenon in a patient with systemic sclerosis successfully treated with botulinum toxin. ( 29274125 )
2018
23
Systemic sclerosis: severe pulmonary arterial hypertension and pericardial effusion at diagnosis. ( 29764826 )
2018
24
Refractory Hepatic Hydrothorax: A Rare Complication of Systemic Sclerosis and Presinusoidal Portal Hypertension. ( 29854501 )
2018
25
Bladder Malakoplakia in Systemic Sclerosis Patient: A Case Report and Review Literature. ( 29967807 )
2018
26
Nodular Regenerative Hyperplasia of the Liver: A Rare Vascular Complication in Systemic Sclerosis. ( 29093156 )
2018
27
Effects of autonomic dysfunction on exercise tolerance in systemic sclerosis patients without clinical and instrumental evidence of cardiac and pulmonary involvement. ( 29745872 )
2018
28
Blue toe syndrome as a first sign of systemic sclerosis. ( 29305361 )
2018
29
Screening High Resolution Computed Tomography of the Chest to Detect Interstitial Lung Disease in Systemic Sclerosis: A Global Survey of Rheumatologists. ( 29426066 )
2018
30
Olfactory function in systemic lupus erythematosus and systemic sclerosis. A longitudinal study and review of the literature. ( 29444467 )
2018
31
Sirtuin1 Protects against Systemic Sclerosis-related Pulmonary Fibrosis by Decreasing Proinflammatory and Profibrotic Processes. ( 28800254 )
2018
32
Evaluation of Vitamin B12 Deficiency and Associated Factors in Patients With Systemic Sclerosis. ( 29384828 )
2018
33
From Localized Scleroderma to Systemic Sclerosis: Coexistence or Possible Evolution. ( 29666638 )
2018
34
Prospective evaluation of frequency of genital lichen sclerosus in 79 patients with systemic sclerosis. ( 29928761 )
2018
35
Factors influencing early referral, early diagnosis and management in patients with diffuse cutaneous systemic sclerosis. ( 29415230 )
2018
36
Cutaneous angiosarcoma in a patient with systemic sclerosis: First case from India. ( 29376512 )
2018
37
Skin Gene Expression Is Prognostic for the Trajectory of Skin Disease in Patients With Diffuse Cutaneous Systemic Sclerosis. ( 29858547 )
2018
38
Efficacy and safety of combination therapy with prednisolone and oral tacrolimus for progressive interstitial pneumonia with systemic sclerosis: a retrospective study. ( 29442534 )
2018
39
Surgical management of gastroesophageal reflux disease in patients with systemic sclerosis. ( 29435755 )
2018
40
Acroosteolysis in Systemic Sclerosis. ( 30454843 )
2018
41
Factors related to alexithymia in patients with systemic sclerosis: a tight relationship with facial image dissatisfaction. ( 30498976 )
2018
42
ANCA-Associated Vasculitis Co-Occurrence With Systemic Sclerosis: A Case Report of a Rare Diagnostic Dilemma. ( 30083557 )
2018
43
The challenge of pet therapy in systemic sclerosis: evidence for an impact on pain, anxiety, neuroticism and social interaction. ( 30277859 )
2018
44
Sympathetic skin response in patients with systemic sclerosis and rheumatoid arthritis. ( 30546249 )
2018
45
Prevalence of comorbidities in systemic sclerosis versus rheumatoid arthritis: a comparative, multicenter, matched-cohort study. ( 30514359 )
2018
46
Dickkopf-1 (Dkk-1) serum levels in systemic sclerosis and rheumatoid arthritis patients: correlation with the Trabecular Bone Score (TBS). ( 30291470 )
2018
47
Clinical Images: Arthritis mutilans in systemic sclerosis. ( 30221850 )
2018
48
Demographic and clinical characteristics of spinal calcinosis in systemic sclerosis: Possible association with peripheral angiopathy. ( 30447023 )
2018
49
Mycophenolate mofetil-induced colitis in a patient with systemic sclerosis. ( 29776943 )
2018
50
Prevalence of pulmonary hypertension in patients with systemic sclerosis and mixed connective tissue disease. ( 29995796 )
2018
Sources

Variations for Scleroderma, Familial Progressive

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Copy number variations for Scleroderma, Familial Progressive from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 107132 17 1225928 31649829 Copy number CCL3L3 Sclerosis systemic
2 107142 17 1225928 31649843 Copy number CCL3L1 Sclerosis systemic
3 107162 17 1242109 31665953 Copy number CCL4L2 Sclerosis systemic
4 110231 17 31562580 31665959 Copy number CCL4L1 Sclerosis systemic
5 209408 6 2614953 31491069 Copy number MICA Sclerosis systemic
6 211359 6 32593131 32665540 Copy number HLA-DRB5 Sclerosis systemic
7 212284 6 3674895 32665540 Copy number HLA-DRB1 Sclerosis systemic
8 212430 6 3795995 32719407 Copy number HLA-DQA1 Sclerosis systemic
9 212451 6 3813334 32742444 Copy number HLA-DQB1 Sclerosis systemic
Sources

Expression for Scleroderma, Familial Progressive

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Search GEO for disease gene expression data for Scleroderma, Familial Progressive.
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Pathways for Scleroderma, Familial Progressive

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Pathways related to Scleroderma, Familial Progressive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Binding and Uptake of Ligands by Scavenger Receptors 66
Show member pathways
 11.45 CD36 COL1A1 COL1A2
2
AGE-RAGE signaling pathway in diabetic complications 37
11.33 COL1A1 COL1A2 EDN1
3
Endothelins 1
11.2 COL1A2 EDN1
4
ECM-receptor interaction 37
Show member pathways
 11.1 CD36 COL1A1 COL1A2 FBN1
5
Cell adhesion_Endothelial cell contacts by non-junctional mechanisms 22
11.06 COL1A1 COL1A2
6
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
11.02 COL1A1 COL1A2
7
Inflammatory Response Pathway 1
10.92 COL1A1 COL1A2
8
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 61
10.84 CD36 COL1A1 COL1A2
9
VEGFR3 signaling in lymphatic endothelium 1
10.68 COL1A1 COL1A2
10
G-protein signaling_Rap2B regulation pathway 22
10.57 BMP6 COL1A1 COL1A2 FBN1
Sources

GO Terms for Scleroderma, Familial Progressive

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Cellular components related to Scleroderma, Familial Progressive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.73 APOH BMP6 COL1A1 COL1A2 EDN1 FBN1
2 endoplasmic reticulum lumen GO:0005788 9.5 COL1A1 COL1A2 FBN1
3 extracellular space GO:0005615 9.5 APOH BMP6 CD36 COL1A1 COL1A2 EDN1
4 collagen-containing extracellular matrix GO:0062023 9.46 APOH COL1A1 COL1A2 FBN1
5 collagen type I trimer GO:0005584 8.62 COL1A1 COL1A2

Biological processes related to Scleroderma, Familial Progressive according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.72 AIF1 CD36 EDN1
2 positive regulation of cell migration GO:0030335 9.71 AIF1 COL1A1 EDN1
3 extracellular matrix organization GO:0030198 9.7 COL1A1 COL1A2 FBN1
4 blood coagulation GO:0007596 9.69 CD36 COL1A1 COL1A2
5 collagen fibril organization GO:0030199 9.57 COL1A1 COL1A2
6 response to activity GO:0014823 9.56 BMP6 EDN1
7 endochondral ossification GO:0001958 9.49 BMP6 COL1A1
8 negative regulation of blood coagulation GO:0030195 9.48 APOH EDN1
9 positive regulation of blood coagulation GO:0030194 9.46 APOH CD36
10 protein heterotrimerization GO:0070208 9.43 COL1A1 COL1A2
11 cellular response to transforming growth factor beta stimulus GO:0071560 9.43 COL1A1 EDN1 FBN1
12 negative regulation of smooth muscle cell apoptotic process GO:0034392 9.4 APOH EDN1
13 skin morphogenesis GO:0043589 9.37 COL1A1 COL1A2
14 cellular response to hydroperoxide GO:0071447 9.32 AIF1 CD36
15 triglyceride transport GO:0034197 9.16 APOH CD36
16 positive regulation of nitric oxide biosynthetic process GO:0045429 9.13 AIF1 CD36 EDN1
17 skeletal system development GO:0001501 9.02 BMP6 COL1A1 COL1A2 EDN1 FBN1

Molecular functions related to Scleroderma, Familial Progressive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.16 COL1A1 COL1A2
2 extracellular matrix structural constituent GO:0005201 9.13 COL1A1 COL1A2 FBN1
3 platelet-derived growth factor binding GO:0048407 8.62 COL1A1 COL1A2
Sources

Sources for Scleroderma, Familial Progressive

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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