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Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
1 associated gene
130 connected diseases
No signs/symptoms info
Disease Type of connection
Chronic mucocutaneous candidiasis
Susceptibility to viral and mycobacterial infections
Giant cell glioblastoma
Gliosarcoma
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Gastrointestinal stromal tumor
Amyotrophic lateral sclerosis
Idiopathic hypereosinophilic syndrome
Cowden syndrome
Autosomal dominant hyper-IgE syndrome
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Familial pancreatic carcinoma
Fanconi anemia
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Common variable immunodeficiency
Budd-Chiari syndrome
Essential thrombocythemia
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Intermittent hydrarthrosis
TRAPS syndrome
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Acute myeloblastic leukemia with maturation
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Aleukemic mast cell leukemia
Bullous diffuse cutaneous mastocytosis
Classic mast cell leukemia
Cutaneous mastocytoma
Hypocalcemic vitamin D-resistant rickets
Isolated bone marrow mastocytosis
Lymphoadenopathic mastocytosis with eosinophilia
Nodular urticaria pigmentosa
Piebaldism
Plaque-form urticaria pigmentosa
Pseudoxanthomatous diffuse cutaneous mastocytosis
Smouldering systemic mastocytosis
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
Telangiectasia macularis eruptiva perstans
Typical urticaria pigmentosa
Coffin-Siris syndrome
Familial rhabdoid tumor
Williams syndrome
Achondroplasia
Bilateral striopallidodentate calcinosis
Camptodactyly - tall stature - scoliosis - hearing loss
Chronic myelomonocytic leukemia
Crouzon syndrome - acanthosis nigricans
Cutis gyrata - acanthosis nigricans - craniosynostosis
Hypochondroplasia
Infantile myofibromatosis
Isolated brachycephaly
Isolated cloverleaf skull syndrome
Isolated plagiocephaly
Lacrimo-auriculo-dento-digital syndrome
Muenke syndrome
Myeloid neoplasm associated with PDGFRB rearrangement
Saethre-Chotzen syndrome
Severe achondroplasia - developmental delay - acanthosis nigricans
Severe combined immunodeficiency due to LCK deficiency
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Unclassified chronic myeloproliferative disease
2q37 microdeletion syndrome
Adult-onset distal myopathy due to VCP mutation
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
Alexander disease type I
Alexander disease type II
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Behavioral variant of frontotemporal dementia
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Distal hereditary motor neuropathy type 7
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hypohidrotic ectodermal dysplasia with immunodeficiency
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Intellectual deficit - sparse hair - brachydactyly
Leber hereditary optic neuropathy
Li-Fraumeni syndrome
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Microphthalmia, Lenz type
Neurofibromatosis type 3
Osteosarcoma
Pediatric systemic lupus erythematosus
Perry syndrome
Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Uveal coloboma - cleft lip and palate - intellectual deficit
Acute promyelocytic leukemia
Laron syndrome with immunodeficiency
Omenn syndrome
T-B+ severe combined immunodeficiency due to gamma chain deficiency
FADD-related immunodeficiency
Familial capillary hemangioma
Juvenile myelomonocytic leukemia
LEOPARD syndrome
Metachondromatosis
Noonan syndrome
Oculootodental syndrome
Anaplastic ependymoma
Berardinelli-Seip congenital lipodystrophy
CLOVE syndrome
Congenital pulmonary alveolar proteinosis
Hemimegalencephaly
Hereditary nonpolyposis colon cancer
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Myeloid neoplasm associated with PDGFRA rearrangement
Precursor B-cell acute lymphoblastic leukemia
Proteus syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
WHIM syndrome
3-phosphoglycerate dehydrogenase deficiency
Synonym(s):
- MSMD due to partial STAT1 deficiency
- MSMD due to partial signal transducer and activator of transcription 1 deficiency
- Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
STAT1 P42224600555
No signs/symptoms info available.