MCID: RRS004
MIFTS: 13

Rare Systemic Disease

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Rare Systemic Disease

MalaCards integrated aliases for Rare Systemic Disease:

Name: Rare Systemic Disease 58

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases


External Ids:

Orphanet 58 ORPHA182222

Summaries for Rare Systemic Disease

MalaCards based summary : Rare Systemic Disease is related to xanthoma disseminatum and sarcoidosis 1. Affiliated tissues include bone, skin and lung.

Related Diseases for Rare Systemic Disease

Diseases related to Rare Systemic Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 xanthoma disseminatum 10.8
2 sarcoidosis 1 9.6
3 histiocytosis 9.6
4 whipple disease 9.6
5 splenomegaly 9.6

Graphical network of the top 20 diseases related to Rare Systemic Disease:



Diseases related to Rare Systemic Disease

Symptoms & Phenotypes for Rare Systemic Disease

Drugs & Therapeutics for Rare Systemic Disease

Search Clinical Trials , NIH Clinical Center for Rare Systemic Disease

Genetic Tests for Rare Systemic Disease

Anatomical Context for Rare Systemic Disease

MalaCards organs/tissues related to Rare Systemic Disease:

40
Bone, Skin, Lung, Breast, B Cells, Pituitary

Publications for Rare Systemic Disease

Articles related to Rare Systemic Disease:

(show top 50) (show all 120)
# Title Authors PMID Year
1
IgG4-mediated sclerosing fibroinflammatory disease presenting as inflammatory breast malignancy. 61
31555465 2019
2
Predictors of Adverse Events Following Cleft Palate Repair. 61
31299734 2019
3
A rare case of spinal epidural sarcoidosis: case report and review of the literature. 61
31297669 2019
4
Long-term Follow-up of Severe Eosinophilic Hepatitis: A Rare Presentation of Hypereosinophilic Syndrome. 61
31335311 2019
5
Relationship of ocular presentation in granulomatosis with polyangiitis to autoantibodies and disease activity. 61
29926173 2019
6
Adult-onset Still's Disease as a Differential Diagnosis in Prolonged Fever: Diagnosis and Treatment Experience. 61
31383831 2019
7
Endocrine Manifestations in POEMS Syndrome: a case report and literature review. 61
30902082 2019
8
Multicentric Castleman's disease: Report of three cases. 61
30581518 2019
9
Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry. 61
30764793 2019
10
Lymphangioleiomyomatosis. 61
31610670 2019
11
Recent advances in the pathobiology and clinical management of lymphangioleiomyomatosis. 61
29927757 2018
12
POEMS syndrome: diagnostic delay and successful treatment with lenalidomide, cyclophosphamide and prednisone followed by autologous peripheral stem cell transplantation. 61
30054320 2018
13
A Case of Whipple's Disease: A Very Rare Cause for Rapidly Progressive Dementia. 61
29875539 2018
14
Seronegative granulomatosis with polyangiitis presenting with multiple cranial nerve palsies. 61
29139157 2018
15
Atypical Presentation of Gelsolin Amyloidosis in a Man of African Descent with a Novel Mutation in the Gelsolin Gene. 61
29599423 2018
16
Left atrial dysfunction in light-chain cardiac amyloidosis and hypertrophic cardiomyopathy - A comparative three-dimensional speckle-tracking echocardiographic analysis from the MAGYAR-Path Study. 61
29233648 2017
17
Adult Langerhans cell histiocytosis with pulmonary and colorectoanal involvement: a case report. 61
28942734 2017
18
[Angioneurotic Edema as a Differential Diagnosis of Recurrent Abdominal Pain]. 61
28282682 2017
19
Eosinophilic granulomatosis with polyangiitis (formerly known as Churg-Strauss syndrome) as a differential diagnosis of hypereosinophilic syndromes. 61
28337408 2017
20
Acute coronary vasospasm in a patient with eosinophilic granulomatosis with polyangiitis following NSAID administration: A case report. 61
27893661 2016
21
Clinical analysis of 47 cases of solitary fibrous tumor. 61
27698815 2016
22
Gingival hyperplasia as first sign of recurrence of granulomatosis with polyangiitis (Wegener's granulomatosis): case report and review of the literature. 61
27485511 2016
23
[Sarcoidosis in childhood. A rare systemic disease]. 61
29421193 2016
24
[Extrapulmonary sarcoidosis: gastrointestinal involvement -case report and review of literature]. 61
27043887 2016
25
Bilateral Total Hip Arthroplasty in a Rare Case of Multicentric Reticulohistiocytosis. 61
26640636 2015
26
Temporal artery biopsy--how can we improve performance? 61
24119976 2015
27
Cutaneous Manifestations in POEMS Syndrome: Case Report and Review. 61
26034475 2015
28
Central Nervous System Involvement as Relapse in Undiagnosed Whipple's Disease with Atypical Symptoms at Onset. 61
26191089 2015
29
Sjögren-Larsson syndrome: optical coherence tomography and a novel mutation. 61
24377952 2014
30
Necrotizing sarcoid granulomatosis with an uncommon manifestation: clinicopathological features and review of literature. 61
24327742 2014
31
Optic neuritis revealing Kikuchi-Fujimoto disease. 61
24596142 2014
32
Churg-Strauss syndrome: a case report. 61
25741095 2014
33
[An ophthalmologic diagnostic error leading to a rare systemic diagnosis: Erdheim-Chester disease]. 61
24674299 2014
34
Neurofibroma invading into urinary bladder presenting with symptoms of obstructed defecation and a large perineal hernia. 61
24739734 2014
35
Multi-organ sarcoidosis treatment with fumaric acid esters: a case report and review of the literature. 61
24686198 2014
36
Recurrent Skin and Lung Infections in Autosomal Dominant Hyper IgE Syndrome with Transactivation Domain STAT3 Mutation. 61
25379309 2014
37
Relapsing polychondritis. 61
25349745 2014
38
Multicentric reticulohistiocytosis with extra-mammillary Paget's disease: a case report. 61
24168966 2013
39
The usefulness of the scan with 67Ga-citrate in the multicentric reticulohistiocytosis. 61
23219024 2013
40
An unexpected mortality following cardiac surgery: a post-mortem diagnosis of cardiac amyloidosis. 61
23086612 2013
41
Everolimus treatment of abdominal lymphangioleiomyoma in five women with sporadic lymphangioleiomyomatosis. 61
23879512 2013
42
Adult-onset asthma associated with periocular xanthogranuloma: new diagnostic and therapeutic approaches in a very rare systemic disease. 61
23407416 2013
43
Eosinophilic fascitis: a rare fibrosing disorder. 61
23434968 2012
44
[Bilateral exophthalmos requiring rheumatologic consultation. A case of the Churg-Strauss syndrome]. 61
23767179 2012
45
Facial resurfacing with split-thickness skin grafts in xeroderma pigmentosum variant. 61
20728371 2011
46
[Waardenburg syndrome type I: case report]. 61
21915450 2011
47
Ultraviolet light-induced Köbner phenomenon contributes to the development of skin eruptions in multicentric reticulohistiocytosis. 61
21279300 2011
48
F-18 FDG PET/CT findings in pulmonary necrotizing sarcoid granulomatosis. 61
20706045 2010
49
[Not only after myocardial infarction - left intraventricular thrombus in the Churg-Strauss syndrome]. 61
20648450 2010
50
Familial amyloidotic polyneuropathy with muscle, vitreous, leptomeningeal, and cardiac involvement: phenotypic, pathological, and MRI description. 61
20814501 2010

Variations for Rare Systemic Disease

Expression for Rare Systemic Disease

Search GEO for disease gene expression data for Rare Systemic Disease.

Pathways for Rare Systemic Disease

GO Terms for Rare Systemic Disease

Sources for Rare Systemic Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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