Disease #00104 (BLAUS (Blau Syndrome), OMIM:186580)

Official abbreviation BLAUS
Name Blau Syndrome
OMIM ID 186580
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 4
Phenotype entries for this disease 4
Associated with 1 gene NOD2
Associated tissues -
Disease features -
Remarks -


Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00000566 Kin Fon Leong et al.(2019) F Malaysia Chinese - - - BLAUS Erythematous papules found on entire body surface sparing only palms and soles that were pinhead size, flat-topped, and slightly scaly. Articular involvement was found with boggy synovial thickening of both ankle joints, wrists, and all the fingers. NOD2 NOD2 1 1 Nur Aisyah Athirah
00000772 Anna Mensa-Vilaro et al.(2016) M Malaysia Malay - - - BLAUS maculopapular skin rash and bilateral anterior uveitis as the unique manifestations, multiple noncaseating granulomata NOD2 NOD2 1 1 Nur Aisyah Athirah
00000773 Anna Mensa-Vilaro et al.(2016) - Malaysia Malay - - - BLAUS reddish brown maculopapular skin rashes, chronic and symmetric rheumatoid factor–negative polyarthritis affecting both large joints (knees, ankles, elbows, and wrists) and small joints (metacarpophalangeal joints), tenosynovitis, recurrent bilateral anterior uveitis, fever, hepatomegaly, renal parenchymal disease and arterial hypertension NOD2 NOD2 1 1 Nur Aisyah Athirah
00000774 Anna Mensa-Vilaro et al.(2016) - Malaysia Malay - - - BLAUS reddish brown maculopapular skin rashes, chronic and symmetric rheumatoid factor–negative polyarthritis affecting both large joints (knees, ankles, elbows, and wrists) and small joints (metacarpophalangeal joints), tenosynovitis, recurrent bilateral anterior uveitis, fever, hepatomegaly NOD2 NOD2 1 1 Nur Aisyah Athirah
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