Cryoglobulinemic vasculitis

General Information (adopted from Orphanet):

Synonyms, Signs: MELTZER SYNDROME
MC
Essential mixed cryoglobulinemia
Primary cryoglobulinemia
Mixed cryoglobulinemia
Essential cryoglobulinemia
Number of Symptoms 32
OrphanetNr: 91138
OMIM Id: 123550
ICD-10: D89.1
UMLs: C0543697
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Immune complex mediated vasculitis
 -Rare circulatory system disease
 -Rare systemic or rheumatologic disease
Secondary glomerular disease
 -Rare renal disease
Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis
 -Rare respiratory disease
Systemic inflammatory disease associated with an acquired peripheral neuropathy
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0012622) Chronic kidney disease 32 / 7739
2
 (HPO:0000790) Hematuria Frequent [Orphanet] 106 / 7739
3
 (HPO:0100820) Glomerulopathy Frequent [Orphanet] 46 / 7739
4
 (HPO:0000083) Renal insufficiency Frequent [Orphanet] 232 / 7739
5
 (HPO:0000093) Proteinuria Frequent [Orphanet] 169 / 7739
6
 (HPO:0001097) Keratoconjunctivitis sicca Occasional [Orphanet] 25 / 7739
7
 (HPO:0009830) Peripheral neuropathy Frequent [Orphanet] 206 / 7739
8
 (HPO:0005059) Arthralgia/arthritis Frequent [Orphanet] 141 / 7739
9
 (HPO:0100769) Synovitis Frequent [Orphanet] 86 / 7739
10
 (HPO:0002240) Hepatomegaly Frequent [Orphanet] 467 / 7739
11
 (HPO:0002242) Abnormality of the intestine Occasional [Orphanet] 42 / 7739
12
 (HPO:0001399) Hepatic failure Frequent [Orphanet] 80 / 7739
13
 (HPO:0002239) Gastrointestinal hemorrhage Occasional [Orphanet] 97 / 7739
14
 (HPO:0001744) Splenomegaly Frequent [Orphanet] 337 / 7739
15
 (HPO:0002027) Abdominal pain Frequent [Orphanet] 184 / 7739
16
 (HPO:0001396) Cholestasis Frequent [Orphanet] 136 / 7739
17
 (HPO:0005244) Gastrointestinal infarctions Frequent [Orphanet] 14 / 7739
18
 (HPO:0200042) Skin ulcer Very frequent [Orphanet] 138 / 7739
19
 (HPO:0001933) Subcutaneous hemorrhage Very frequent [Orphanet] 50 / 7739
20
 (HPO:0001063) Acrocyanosis Very frequent [Orphanet] 56 / 7739
21
 (HPO:0000822) Hypertension 224 / 7739
22
 (HPO:0012089) Arteritis Very frequent [Orphanet] 40 / 7739
23
 (HPO:0001871) Abnormality of blood and blood-forming tissues 37 / 7739
24
 (HPO:0003259) Elevated serum creatinine 31 / 7739
25
 (HPO:0012050) Anasarca 4 / 7739
26
 (HPO:0100758) Gangrene Frequent [Orphanet] 25 / 7739
27
 (HPO:0001945) Fever Very frequent [Orphanet] 218 / 7739
28
 (HPO:0100721) Mediastinal lymphadenopathy Very frequent [Orphanet] 19 / 7739
29
 (HPO:0100778) Cryoglobulinemia 2 / 7739
30
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
31
 (HPO:0003326) Myalgia Frequent [Orphanet] 143 / 7739
32
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: