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Intermittent hydrarthrosis
2 associated genes
92 connected diseases
No signs/symptoms info
Disease Type of connection
Behçet disease
Familial Mediterranean fever
TRAPS syndrome
Autoimmune lymphoproliferative syndrome
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Fanconi anemia
Juvenile myelomonocytic leukemia
Noonan syndrome
FADD-related immunodeficiency
Oculootodental syndrome
Budd-Chiari syndrome
Essential thrombocythemia
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Chronic mucocutaneous candidiasis
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
MALT lymphoma
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Behavioral variant of frontotemporal dementia
CLN11 disease
Progressive non-fluent aphasia
Semantic dementia
Acrokeratosis verruciformis of Hopf
Acute fatty liver of pregnancy
Autosomal recessive nonsyndromic intellectual deficit
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Baraitser-Winter syndrome
Cardiomyopathy - hypotonia - lactic acidosis
Catecholaminergic polymorphic ventricular tachycardia
Congenital fibrosis of extraocular muscles
DDOST-CDG
Darier disease
Early-onset spastic ataxia-neuropathy syndrome
Hypomyelination with atrophy of basal ganglia and cerebellum
Inflammatory myofibroblastic tumor
Isolated ATP synthase deficiency
Kostmann syndrome
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Mitochondrial trifunctional protein deficiency
Polymicrogyria due to TUBB2B mutation
Primary dystonia, DYT4 type
Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
SSR4-CDG
Severe combined immunodeficiency due to DNA-PKcs deficiency
Spinocerebellar ataxia type 28
Translocation renal cell carcinoma
LEOPARD syndrome
Metachondromatosis
Autoimmune lymphoproliferative syndrome with recurrent infections
Autosomal recessive systemic lupus erythematosus
Common variable immunodeficiency
Periventricular nodular heterotopia
Pyogenic arthritis - pyoderma gangrenosum - acne
Amyotrophic lateral sclerosis
Autosomal agammaglobulinemia
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
CLOVE syndrome
COG5-CDG
Congenital glaucoma
Cowden syndrome
Glycogen storage disease due to hepatic glycogen synthase deficiency
Hemimegalencephaly
Hereditary gingival fibromatosis
Hereditary nonpolyposis colon cancer
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Juvenile glaucoma
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
SHORT syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Herpetic encephalitis
Distal 22q11.2 microdeletion syndrome
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Squamous cell carcinoma of head and neck
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Microcephaly-capillary malformation syndrome
Neonatal inflammatory skin and bowel disease
Niemann-Pick disease type A
Niemann-Pick disease type B
Young adult-onset Parkinsonism
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
MEFV O15553608107
TNFRSF1A P19438191190
No signs/symptoms info available.