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Chronic mucocutaneous candidiasis
10 OMIM references -
7 associated genes
175 connected diseases
33 signs/symptoms
Disease Type of connection
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Giant cell glioblastoma
Blackfan-Diamond anemia
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Amyotrophic lateral sclerosis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Autosomal dominant hypohidrotic ectodermal dysplasia
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Common variable immunodeficiency
Hypohidrotic ectodermal dysplasia with immunodeficiency
Herpetic encephalitis
Acute myeloblastic leukemia with maturation
Gastrointestinal stromal tumor
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Precursor T-cell acute lymphoblastic leukemia
Acute promyelocytic leukemia
Omenn syndrome
T-B+ severe combined immunodeficiency due to gamma chain deficiency
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
Budd-Chiari syndrome
Essential thrombocythemia
Familial thrombocytosis
Leukocyte adhesion deficiency type I
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Hyper-IgM syndrome type 3
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Intermittent hydrarthrosis
TRAPS syndrome
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
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
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
Immunodeficiency due to CD25 deficiency
Chuvash erythrocytosis
Von Hippel-Lindau disease
Bilateral striopallidodentate calcinosis
Camptodactyly - tall stature - scoliosis - hearing loss
Chronic myelomonocytic leukemia
Crouzon syndrome - acanthosis nigricans
Cutis gyrata - acanthosis nigricans - craniosynostosis
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
Familial afibrinogenemia
Familial dysfibrinogenemia
Familial hypodysfibrinogenemia
Familial hypofibrinogenemia
2q37 microdeletion syndrome
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
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
Autoimmune lymphoproliferative syndrome with recurrent infections
Autosomal dominant macrothrombocytopenia
Autosomal dominant spastic paraplegia type 13
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Baraitser-Winter syndrome
Behavioral variant of frontotemporal dementia
Chronic intestinal pseudoobstruction
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital bile acid synthesis defect type 1
Congenital short bowel syndrome
Congenital valvular dysplasia
Developmental malformations - deafness - dystonia
Digitotalar dysmorphism
Distal hereditary motor neuropathy type 7
Ehlers-Danlos syndrome with periventricular heterotopia
Familial isolated pituitary adenoma
Freeman-Sheldon syndrome
Frontometaphyseal dysplasia
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Intellectual deficit - sparse hair - brachydactyly
Leber hereditary optic neuropathy
Li-Fraumeni syndrome
MALT lymphoma
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Microphthalmia, Lenz type
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Neurofibromatosis type 3
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Pediatric systemic lupus erythematosus
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Periventricular nodular heterotopia
Perry syndrome
Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome
Progressive non-fluent aphasia
Retinitis pigmentosa
Semantic dementia
Sheldon-Hall syndrome
Spastic paraplegia - Paget disease of bone
Split hand-split foot malformation
Terminal osseous dysplasia - pigmentary defects
Treacher-Collins syndrome
Uveal coloboma - cleft lip and palate - intellectual deficit
Laron syndrome with immunodeficiency
FADD-related immunodeficiency
Familial capillary hemangioma
Juvenile myelomonocytic leukemia
LEOPARD syndrome
Noonan syndrome
Oculootodental syndrome
Anaplastic ependymoma
Berardinelli-Seip congenital lipodystrophy
CLOVE syndrome
Congenital pulmonary alveolar proteinosis
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
- Chronic mucocutaneous candidosis

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare skin disease

Classification (ICD10):
- Certain infectious and parasitic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
10 OMIM references -
1 MeSH reference: D002178

Very frequent
- Abnormal fingernails
- Abnormal toenails
- Anomalies of mouth, lip and philtrum
- Anomalies of skin, subcutaneous tissue and mucosae
- Anomalies of the immunitary system
- Autosomal dominant inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cutaneous rash
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Nails anomalies
- Oral mucosa disease / cheilitis

- Dyspareunia / coital pain / vaginal dryness
- Follicular / erythematous / edematous papules / milium
- Vagina anomalies / atresia / hydrometrocolpos / hymen imperforation

- Anomalies of eyes and vision
- Cough
- Enamel anomaly
- Endocardium anomalies / fibroelastosis / endocarditis
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Fever / chilling
- Hematuria / microhematuria
- Hemoptysis
- Hepatitis / icterus / cholestasis
- Motor deficit / trouble
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Pruritus / itching
- Recurrent urinary infections
- Repeat respiratory infections
- Seizures / epilepsy / absences / spasms / status epilepticus