MCID: CRY007
MIFTS: 37

Cryoglobulinemia, Familial Mixed

Categories: Rare diseases, Immune diseases, Neuronal diseases, Cardiovascular diseases, Nephrological diseases, Respiratory diseases, Bone diseases, Genetic diseases

Aliases & Classifications for Cryoglobulinemia, Familial Mixed

MalaCards integrated aliases for Cryoglobulinemia, Familial Mixed:

Name: Cryoglobulinemia, Familial Mixed 54 69
Mixed Cryoglobulinemia 56 52 69
Essential Mixed Cryoglobulinemia 56 69
Cryoglobulinemic Vasculitis 56 69
Essential Cryoglobulinemia 56 69
Primary Cryoglobulinemia 56 69
Familial Mixed Cryoglobulinemia 50
Meltzer Syndrome 50
Mc 56

Characteristics:

Orphanet epidemiological data:

56
cryoglobulinemic vasculitis
Age of onset: All ages;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
cryoglobulinemia, familial mixed:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cryoglobulinemia, Familial Mixed

NIH Rare Diseases : 50 familial mixed cryoglobulinemia is a rare condition that is characterized by the presence of abnormal proteins (called cryoglobulins) in the blood. these proteins clump together into a "gel-like" consistency at low temperatures, which can lead to inflammation, blocked blood vessels, and a variety of health problems. the associated signs and symptoms vary from person to person depending on which parts of the body or organ systems are affected; however, common features include purpura, joint pain, breathing problems, muscle pain, fatigue, glomerulonephritis, raynaud's phenomenon, and skin abnormalities. the underlying genetic cause of familial mixed cryoglobulinemia is currently unknown. although there are only a few reported families with this condition, it appears to be inherited in an autosomal dominant manner. treatment is based on the signs and symptoms present in each person. in severe cases, medications that suppress the immune system may be necessary. last updated: 1/19/2016

MalaCards based summary : Cryoglobulinemia, Familial Mixed, also known as mixed cryoglobulinemia, is related to type ii mixed cryoglobulinemia and mixed cryoglobulinemia type iii, and has symptoms including hepatomegaly, splenomegaly and hematuria. An important gene associated with Cryoglobulinemia, Familial Mixed is TSLP (Thymic Stromal Lymphopoietin), and among its related pathways/superpathways are Jak-STAT signaling pathway (KEGG) and B Cell Development Pathways. Affiliated tissues include skin, liver and bone, and related phenotype is Increased shRNA abundance (Z-score > 2).

Description from OMIM: 123550

Related Diseases for Cryoglobulinemia, Familial Mixed

Diseases in the Cryoglobulinemia, Familial Mixed family:

Mixed Cryoglobulinemia Type Iii Type Ii Mixed Cryoglobulinemia

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

(show top 50) (show all 67)
id Related Disease Score Top Affiliating Genes
1 type ii mixed cryoglobulinemia 12.1
2 mixed cryoglobulinemia type iii 12.1
3 glomerulopathy with fibronectin deposits 2 11.0
4 vasculitis 10.5
5 disease_ontology 10.5 CD40LG IGHM
6 metabolic acidosis 10.4 CD40LG CD5
7 erysipelas 10.4 CD40LG IFNA1
8 chorioretinitis 10.3 CD40LG IFNA1
9 pelvic varices 10.3 CD40LG TSLP
10 arteriosclerosis 10.3 CD40LG CD5
11 autonomic peripheral neuropathy 10.3 CD40LG CD5
12 mental retardation, autosomal dominant 19 10.3 CD40LG IFNA2
13 villoglandular endometrial endometrioid adenocarcinoma 10.3 CD40LG CD5
14 functional diarrhea 10.3 CD40LG IFNA2
15 maxillary sinusitis 10.3 CD40LG IFNA2
16 melanoma metastasis 10.3 CD40LG CD5
17 ovarian endometrioid cystadenoma 10.3 CD40LG CD5
18 male infertility 10.2 IFNA1 IFNA2
19 breast ductal adenoma 10.2 IFNA1 IFNA2
20 hypertrophic elongation of cervix 10.2 CD40LG IFNA2
21 spastic entropion 10.2 CD40LG IFNA2
22 dentin caries 10.2 IFNA2 TSLP
23 hepatitis 10.2
24 trachoma 10.2 CD40LG IGHM
25 hepatitis c 10.2
26 lymphoma, small cleaved-cell, diffuse 10.2 BCR CD5
27 aids wasting syndrome 10.2 IFNA1 IFNA2
28 malignant epithelioid hemangioendothelioma 10.2 IFNA1 IFNA2
29 benign mammary dysplasia 10.1 CD40LG IFNA1
30 hepatitis c virus 10.1
31 heart sarcoma 10.1 CD40LG IFNA1
32 duodenal ulcer 10.1 BCR CD5
33 pulmonary tuberculosis 10.1 CD40LG IFNA1
34 pancreas disease 10.1 CD40LG IGHM
35 lymphoma, malt, somatic 10.1 CD40LG CD5
36 immunodeficiency 11a 10.0 BCR CD5
37 acute chest syndrome 10.0 CD40LG TSLP
38 renal hypertension 10.0 CD40LG ENO1
39 polyarteritis nodosa 10.0
40 hepatitis b 9.9
41 noninfectious dermatoses of eyelid 9.8 CD40LG IFNA1 IFNA2
42 acral lentiginous melanoma 9.8 CD40LG IFNA1 IFNA2
43 congenital nystagmus 9.8 IFNA1 IFNA2
44 carotid artery dissection 9.8 CD40LG IFNA1 IFNA2
45 hemoglobin c disease 9.8 CD5 IFNA1 IFNA2
46 smoking as a quantitative trait locus 1 9.7 BCR CD40LG CD5
47 mononeuropathy 9.7
48 cholecystitis 9.7
49 acalculous cholecystitis 9.7
50 cryoglobulinemia 9.7

Graphical network of the top 20 diseases related to Cryoglobulinemia, Familial Mixed:



Diseases related to Cryoglobulinemia, Familial Mixed

Symptoms & Phenotypes for Cryoglobulinemia, Familial Mixed

Symptoms via clinical synopsis from OMIM:

54

Lab:
hematuria
proteinuria
elevated serum creatinine

Misc:
anasarca

GU:
loss of renal function

Endocrine:
hypertension

Heme:
cryoglobulinemia


Clinical features from OMIM:

123550

Human phenotypes related to Cryoglobulinemia, Familial Mixed:

56 32 (show all 34)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0002240
2 splenomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0001744
3 hematuria 56 32 frequent (33%) Frequent (79-30%) HP:0000790
4 proteinuria 56 32 frequent (33%) Frequent (79-30%) HP:0000093
5 muscle weakness 56 32 hallmark (90%) Very frequent (99-80%) HP:0001324
6 renal insufficiency 56 32 frequent (33%) Frequent (79-30%) HP:0000083
7 cutis marmorata 56 32 hallmark (90%) Very frequent (99-80%) HP:0000965
8 arthritis 56 32 frequent (33%) Frequent (79-30%) HP:0001369
9 myalgia 56 32 frequent (33%) Frequent (79-30%) HP:0003326
10 petechiae 56 32 hallmark (90%) Very frequent (99-80%) HP:0000967
11 purpura 56 32 hallmark (90%) Very frequent (99-80%) HP:0000979
12 fever 56 32 hallmark (90%) Very frequent (99-80%) HP:0001945
13 viral hepatitis 56 32 frequent (33%) Frequent (79-30%) HP:0006562
14 abdominal pain 56 32 frequent (33%) Frequent (79-30%) HP:0002027
15 sensorimotor neuropathy 56 32 frequent (33%) Frequent (79-30%) HP:0007141
16 vasculitis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002633
17 gangrene 56 32 frequent (33%) Frequent (79-30%) HP:0100758
18 arthralgia 56 32 frequent (33%) Frequent (79-30%) HP:0002829
19 keratoconjunctivitis sicca 56 32 occasional (7.5%) Occasional (29-5%) HP:0001097
20 gastrointestinal hemorrhage 56 32 occasional (7.5%) Occasional (29-5%) HP:0002239
21 gastrointestinal infarctions 56 32 frequent (33%) Frequent (79-30%) HP:0005244
22 circulating immune complexes 56 32 hallmark (90%) Very frequent (99-80%) HP:0012224
23 skin ulcer 56 32 hallmark (90%) Very frequent (99-80%) HP:0200042
24 glomerulopathy 56 32 frequent (33%) Frequent (79-30%) HP:0100820
25 mediastinal lymphadenopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0100721
26 mononeuropathy 56 32 frequent (33%) Frequent (79-30%) HP:0009831
27 peripheral neuropathy 56 Frequent (79-30%)
28 hypertension 32 HP:0000822
29 chronic kidney disease 32 HP:0012622
30 elevated serum creatinine 32 HP:0003259
31 anasarca 32 HP:0012050
32 cryoglobulinemia 32 hallmark (90%) HP:0100778
33 abnormality of blood and blood-forming tissues 32 HP:0001871
34 abnormality of the liver 56 Frequent (79-30%)

GenomeRNAi Phenotypes related to Cryoglobulinemia, Familial Mixed according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.77 BCR
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.77 IFNA2 IFNA1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.77 BCR IFNA1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.77 BCR
5 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.77 BCR
6 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.77 IFNA2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.77 BCR
8 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.77 IFNA1 IFNA2 BCR
9 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.77 IFNA2 IFNA1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.77 BCR
11 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.77 IFNA1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.77 BCR
13 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.77 IFNA2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.77 IFNA2 BCR
15 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.77 IFNA1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.77 IFNA1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.77 IFNA1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.77 IFNA1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.77 IFNA1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.77 BCR
21 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.77 BCR
22 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.77 IFNA1

Drugs & Therapeutics for Cryoglobulinemia, Familial Mixed

Search Clinical Trials , NIH Clinical Center for Cryoglobulinemia, Familial Mixed

Genetic Tests for Cryoglobulinemia, Familial Mixed

Anatomical Context for Cryoglobulinemia, Familial Mixed

MalaCards organs/tissues related to Cryoglobulinemia, Familial Mixed:

39
Skin, Liver, Bone, Kidney

Publications for Cryoglobulinemia, Familial Mixed

Variations for Cryoglobulinemia, Familial Mixed

Expression for Cryoglobulinemia, Familial Mixed

Search GEO for disease gene expression data for Cryoglobulinemia, Familial Mixed.

Pathways for Cryoglobulinemia, Familial Mixed

Pathways related to Cryoglobulinemia, Familial Mixed according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.04 IFNA1 IFNA2 TSLP
2 10.88 CD40LG CD5
3 10.58 IFNA1 IFNA2

GO Terms for Cryoglobulinemia, Familial Mixed

Cellular components related to Cryoglobulinemia, Familial Mixed according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.13 CD40LG CD5 IGHM
2 extracellular space GO:0005615 9.1 CD40LG ENO1 IFNA1 IFNA2 IGHM TSLP

Biological processes related to Cryoglobulinemia, Familial Mixed according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 T cell costimulation GO:0031295 9.48 CD40LG CD5
2 type I interferon signaling pathway GO:0060337 9.46 IFNA1 IFNA2
3 humoral immune response GO:0006959 9.43 IFNA1 IFNA2
4 response to exogenous dsRNA GO:0043330 9.4 IFNA1 IFNA2
5 regulation of type I interferon-mediated signaling pathway GO:0060338 9.37 IFNA1 IFNA2
6 T cell activation involved in immune response GO:0002286 9.32 IFNA1 IFNA2
7 positive regulation of peptidyl-serine phosphorylation of STAT protein GO:0033141 9.26 IFNA1 IFNA2
8 natural killer cell activation involved in immune response GO:0002323 9.16 IFNA1 IFNA2
9 B cell differentiation GO:0030183 9.13 CD40LG IFNA1 IFNA2
10 B cell proliferation GO:0042100 8.8 CD40LG IFNA1 IFNA2

Molecular functions related to Cryoglobulinemia, Familial Mixed according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytokine receptor binding GO:0005126 9.16 IFNA1 IFNA2
2 type I interferon receptor binding GO:0005132 8.96 IFNA1 IFNA2
3 cytokine activity GO:0005125 8.92 CD40LG IFNA1 IFNA2 TSLP

Sources for Cryoglobulinemia, Familial Mixed

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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