Blau syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: GRANULOMATOUS INFLAMMATORY ARTHRITIS, DERMATITIS, AND UVEITIS, FAMILIAL
ARTHROCUTANEOUVEAL GRANULOMATOSIS
GRANULOMATOSIS, FAMILIAL, BLAU TYPE SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES, INCLUDED
GRANULOMATOSIS, FAMILIAL JUVENILE SYSTEMIC
JABS SYNDROME
ACUG
Number of Symptoms 66
OrphanetNr: 90340
OMIM Id: 186580
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autoinflammatory syndrome with immune deficiency
 -Rare genetic disease
 -Rare immune disease
Autoinflammatory syndrome with skin involvement
 -Rare skin disease
Genetic dermis disorder
 -Rare genetic disease
Granulomatous autoinflammatory syndrome
 -Rare systemic or rheumatologic disease
Secondary interstitial lung disease specific to childhood associated with a granulomatous disease
 -Rare respiratory disease
Systemic diseases with anterior uveitis
 -Rare eye disease
Systemic diseases with panuveitis
 -Rare eye disease
Unclassified dermis disorder
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0009726) Renal neoplasm Occasional [Orphanet] 20 / 7739
2
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 232 / 7739
3
 (HPO:0000112) Nephropathy Occasional [Orphanet] 92 / 7739
4
 (HPO:0001970) Tubulointerstitial nephritis Occasional [Orphanet] 27 / 7739
5
 (HPO:0010286) Abnormality of the salivary glands Occasional [Orphanet] 7 / 7739
6
 (HPO:0000217) Xerostomia Occasional [Orphanet] 35 / 7739
7
 (HPO:0010628) Facial palsy Occasional [Orphanet] 146 / 7739
8
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
9
 (HPO:0100533) Inflammatory abnormality of the eye Very frequent [Orphanet] 70 / 7739
10
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
11
 (HPO:0000501) Glaucoma Frequent [Orphanet] 180 / 7739
12
 (HPO:0000554) Uveitis 10 / 7739
13
 (HPO:0000613) Photophobia Frequent [Orphanet] 158 / 7739
14
 (HPO:0011505) Cystoid macular edema 8 / 7739
15
 (HPO:0100654) Retrobulbar optic neuritis Occasional [Orphanet] 5 / 7739
16
 (HPO:0001085) Papilledema 31 / 7739
17
 (HPO:0001101) Iritis 3 / 7739
18
 (HPO:0007813) Nongranulomatous uveitis 1 / 7739
19
 (HPO:0000585) Band keratopathy 8 / 7739
20
 (HPO:0000610) Abnormality of the choroid Occasional [Orphanet] 11 / 7739
21
 (HPO:0000488) Retinopathy Occasional [Orphanet] 75 / 7739
22
 (HPO:0000598) Abnormality of the ear 98 / 7739
23
 (HPO:0002011) Morphological abnormality of the central nervous system Occasional [Orphanet] 5 / 7739
24
 (HPO:0001291) Abnormality of the cranial nerves 27 / 7739
25
 (HPO:0100769) Synovitis Very frequent [Orphanet] 86 / 7739
26
 (HPO:0001369) Arthritis 44 / 7739
27
 (HPO:0005059) Arthralgia/arthritis Very frequent [Orphanet] 141 / 7739
28
 (HPO:0005830) Flexion contracture of toe 9 / 7739
29
 (HPO:0001371) Flexion contracture 220 / 7739
30
 (HPO:0001386) Joint swelling 7 / 7739
31
 (HPO:0012385) Camptodactyly 113 / 7739
32
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
33
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
34
 (HPO:0001410) Decreased liver function Occasional [Orphanet] 59 / 7739
35
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
36
 (HPO:0001933) Subcutaneous hemorrhage Occasional [Orphanet] 50 / 7739
37
 (HPO:0000988) Skin rash Very frequent [Orphanet] 98 / 7739
38
 (HPO:0000958) Dry skin Frequent [Orphanet] 152 / 7739
39
 (HPO:0000964) Eczema 81 / 7739
40
 (HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
41
 (HPO:0008064) Ichthyosis Occasional [Orphanet] 108 / 7739
42
 (HPO:0007432) Intermittent generalized erythematous papular rash 1 / 7739
43
 (HPO:0200042) Skin ulcer Occasional [Orphanet] 138 / 7739
44
 (HPO:0002092) Pulmonary hypertension Occasional [Orphanet] 109 / 7739
45
 (HPO:0001697) Abnormality of the pericardium Occasional [Orphanet] 52 / 7739
46
 (HPO:0012089) Arteritis Occasional [Orphanet] 40 / 7739
47
 (HPO:0000822) Hypertension Occasional [Orphanet] 224 / 7739
48
 (HPO:0002616) Aortic root dilatation Occasional [Orphanet] 27 / 7739
49
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
50
 (HPO:0001945) Fever Frequent [Orphanet] 218 / 7739
51
 (HPO:0011227) Elevated C-reactive protein level Very frequent [Orphanet] 55 / 7739
52
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
53
 (HPO:0002716) Lymphadenopathy Occasional [Orphanet] 129 / 7739
54
 (HPO:0100686) Enthesitis 5 / 7739
55
 (OMIM) Granulomatous synovitis 1 / 7739
56
 (OMIM) Skin biopsy shows noncaseating granulomas 1 / 7739
57
 (OMIM) Granulomatous dermatitis 3 / 7739
58
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
59
 (OMIM) Multifocal choroiditis 1 / 7739
60
 (OMIM) Flexion contractures of the toes 2 / 7739
61
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
62
 (MedDRA:10042858) Synovial cyst 1 / 7739
63
 (OMIM) Granulomatous arthritis 1 / 7739
64
 (MedDRA:10025421) Macule Very frequent [Orphanet] 55 / 7739
65
 (HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739
66
 (OMIM) Cysts over wrist and ankle joints 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Blau (1985) reported a large 4-generation family in which 11 members had a variable constellation of granulomatous arthritis, iritis, and skin rash. Ten had arthritis, 2 had skin, eye, and joint involvement, 1 had skin and joint disease, ...
Molecular genetics OMIM Because mutations in the NOD2/CARD15 gene had been found in Crohn disease (266600), a disorder characterized by episodic intestinal inflammation with epithelioid granulomas, and because CARD15 is expressed predominantly in monocytes, a cell type that can differentiate into ...