Hypocomplementemic urticarial vasculitis

General Information (adopted from Orphanet):

Synonyms, Signs: Anti-C1q vasculitis
Mac Duffie syndrome
Mac Duffie hypocomplementemic urticarial vasculitis
McDuffie hypocomplementemic urticarial vasculitis
McDuffie syndrome
Number of Symptoms 49
OrphanetNr: 36412
OMIM Id:
ICD-10: M31.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 200 cases [Orphanet]
Inheritance: Multifactorial
Not applicable
[Orphanet]
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

Symptom Information: Sort by abundance 

1
 (HPO:0002839) Urinary bladder sphincter dysfunction Occasional [Orphanet] 34 / 7739
2
 (HPO:0000093) Proteinuria Frequent [Orphanet] 169 / 7739
3
 (HPO:0000083) Renal insufficiency Frequent [Orphanet] 232 / 7739
4
 (HPO:0000790) Hematuria Frequent [Orphanet] 106 / 7739
5
 (HPO:0100820) Glomerulopathy Frequent [Orphanet] 46 / 7739
6
 (HPO:0100533) Inflammatory abnormality of the eye Frequent [Orphanet] 70 / 7739
7
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
8
 (HPO:0000763) Sensory neuropathy Occasional [Orphanet] 78 / 7739
9
 (HPO:0011442) Abnormality of central motor function Occasional [Orphanet] 76 / 7739
10
 (HPO:0009830) Peripheral neuropathy Occasional [Orphanet] 206 / 7739
11
 (HPO:0002011) Morphological abnormality of the central nervous system Occasional [Orphanet] 5 / 7739
12
 (HPO:0001315) Reduced tendon reflexes Occasional [Orphanet] 160 / 7739
13
 (HPO:0003474) Sensory impairment Occasional [Orphanet] 54 / 7739
14
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
15
 (HPO:0001287) Meningitis Occasional [Orphanet] 46 / 7739
16
 (HPO:0006824) Cranial nerve paralysis Occasional [Orphanet] 81 / 7739
17
 (HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
18
 (HPO:0100021) Cerebral palsy Occasional [Orphanet] 36 / 7739
19
 (HPO:0100769) Synovitis Frequent [Orphanet] 86 / 7739
20
 (HPO:0001367) Abnormal joint morphology Occasional [Orphanet] 53 / 7739
21
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
22
 (HPO:0100273) Neoplasm of the colon Occasional [Orphanet] 18 / 7739
23
 (HPO:0002027) Abdominal pain Frequent [Orphanet] 184 / 7739
24
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
25
 (HPO:0002017) Nausea and vomiting Frequent [Orphanet] 134 / 7739
26
 (HPO:0001541) Ascites Occasional [Orphanet] 94 / 7739
27
 (HPO:0002024) Malabsorption Occasional [Orphanet] 142 / 7739
28
 (HPO:0100665) Angioedema Frequent [Orphanet] 14 / 7739
29
 (HPO:0000989) Pruritus Very frequent [Orphanet] 111 / 7739
30
 (HPO:0001063) Acrocyanosis Frequent [Orphanet] 56 / 7739
31
 (HPO:0000988) Skin rash Very frequent [Orphanet] 98 / 7739
32
 (HPO:0007400) Irregular hyperpigmentation Frequent [Orphanet] 72 / 7739
33
 (HPO:0001654) Abnormality of the heart valves Occasional [Orphanet] 49 / 7739
34
 (HPO:0001697) Abnormality of the pericardium Occasional [Orphanet] 52 / 7739
35
 (HPO:0012089) Arteritis Very frequent [Orphanet] 40 / 7739
36
 (HPO:0002665) Lymphoma Occasional [Orphanet] 60 / 7739
37
 (HPO:0002091) Restrictive ventilatory defect Occasional [Orphanet] 46 / 7739
38
 (HPO:0002103) Abnormality of the pleura Occasional [Orphanet] 58 / 7739
39
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
40
 (HPO:0006510) Chronic obstructive pulmonary disease Occasional [Orphanet] 19 / 7739
41
 (HPO:0002105) Hemoptysis Frequent [Orphanet] 30 / 7739
42
 (HPO:0002097) Emphysema Occasional [Orphanet] 40 / 7739
43
 (HPO:0002960) Autoimmunity Frequent [Orphanet] 78 / 7739
44
 (HPO:0100326) Immunologic hypersensitivity Occasional [Orphanet] 28 / 7739
45
 (HPO:0010978) Abnormality of immune system physiology Occasional [Orphanet] 148 / 7739
46
 (HPO:0002716) Lymphadenopathy Occasional [Orphanet] 129 / 7739
47
 (HPO:0004431) Complement deficiency Very frequent [Orphanet] 10 / 7739
48
 (HPO:0003326) Myalgia Occasional [Orphanet] 143 / 7739
49
 ([DEL]MedDRA:10011224) Cough Frequent [Orphanet] 70 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: