Cytoscape Web
Click node...

Chronic mucocutaneous candidiasis
10 OMIM references -
7 associated genes
33 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
2q37 microdeletion syndrome
1 OMIM reference -
1 associated gene
52 signs/symptoms
Chronic mucocutaneous candidiasis
2q37 microdeletion syndrome

CARD9
(UniProt - OMIM)
 HDAC4
(UniProt - OMIM)
CLEC7A
(UniProt - OMIM)
ICAM1
(UniProt - OMIM)
IL17F
(UniProt - OMIM)
IL17RA
(UniProt - OMIM)
STAT1
(UniProt - OMIM)
TRAF3IP2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
STAT1
(0.63)
HDAC4


Citations in the biomedical literature:


Chronic mucocutaneous candidiasis
CARD9 CLEC7A ICAM1 IL17F IL17RA STAT1
TRAF3IP2
2q37 microdeletion syndrome
HDAC4



Chronic mucocutaneous candidiasis
2q37 microdeletion syndrome

Synonym(s):
- CMC
- Chronic mucocutaneous candidosis
Synonym(s):
- Albright hereditary osteodystrophy 3
- Albright hereditary osteodystrophy-like syndrome
- Brachydactyly-intellectual deficit
- Del(2)(q37)
- Deletion 2q37
- Deletion 2q37-qter
- Monosomy 2q37-qter
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare skin disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Certain infectious and parasitic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
External references:
10 OMIM references -
1 MeSH reference: D002178
External references:
1 OMIM reference -
1 MeSH reference: C538317
COMMON
SIGNS 		- Seizures / epilepsy / absences / spasms / status epilepticus

Chronic mucocutaneous candidiasis
2q37 microdeletion syndrome

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

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

Occasional
- 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


Very frequent
- Hypotonia
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mid-facial hypoplasia / short / small midface
- Round face

Frequent
- Abnormally placed nipples
- Absent / decreased / thin eyebrows
- Anteverted nares / nostrils
- Clinodactyly of fifth finger
- Congenital cardiac anomaly / malformation / cardiopathy
- Deepset eyes / enophthalmos
- Depressed nasal bridge
- Downturned mouth
- Eczema
- Frontal bossing / prominent forehead
- Generalized obesity
- High arched eyebrows
- High vaulted / narrow palate
- Hyperextensible joints / articular hyperlaxity
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Metacarpal anomalies / Archibald's sign
- Microcephaly
- Psychic / behavioural troubles
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Simian crease / transverse / unique palmar crease
- Small foot
- Small hand / acromicria
- Supernumerary nipples / polythelia
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Thick columella
- Thin / hypoplastic ala nasi
- Thin / retracted lips
- Umbilical hernia
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Occasional
- Autism / autistic disoders
- Conductive deafness / hearing loss
- Diaphragmatic hernia / defect / agenesis
- Gastric / pyloric stenosis
- Hyperactivity / attention deficit
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Laryngomalacia
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Multicystic kidney / renal dysplasia
- Nephroblastoma / Wilms tumor
- Obsessive-compulsive disorder
- Short neck
- Sleep and vigilance disorders
- Tics / stereotypias
- Tracheomalacia / tracheobronchomalacia