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Chronic mucocutaneous candidiasis
10 OMIM references -
7 associated genes
33 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
Thanatophoric dysplasia type 1
1 OMIM reference -
1 associated gene
42 signs/symptoms
Chronic mucocutaneous candidiasis
Thanatophoric dysplasia type 1

CARD9
(UniProt - OMIM)
 FGFR3
(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
(0.66)
FGFR3


Citations in the biomedical literature:


Chronic mucocutaneous candidiasis
CARD9 CLEC7A ICAM1 IL17F IL17RA STAT1
TRAF3IP2
Thanatophoric dysplasia type 1
FGFR3



Chronic mucocutaneous candidiasis
Thanatophoric dysplasia type 1

Synonym(s):
- CMC
- Chronic mucocutaneous candidosis
Synonym(s):
- TD1
- Thanatophoric dwarfism type 1
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare skin disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal dominant
External references:
10 OMIM references -
1 MeSH reference: D002178
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Autosomal dominant inheritance
- Seizures / epilepsy / absences / spasms / status epilepticus

Chronic mucocutaneous candidiasis
Thanatophoric dysplasia type 1

Very frequent
- Abnormal fingernails
- Abnormal toenails
- Anomalies of mouth, lip and philtrum
- Anomalies of skin, subcutaneous tissue and mucosae
- Anomalies of the immunitary system
- 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
- Bowed diaphysis / diaphyses / long bones
- Depressed nasal bridge
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Flat face
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Loose skin / skin relaxation / excess skin / creases
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Metaphyseal anomaly
- Narrow rib cage / thorax
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Platyspondyly
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Rhizomelic micromelia
- Sacroiliac joints anomalies
- Short hand / brachydactyly
- Short limbs / micromelia / brachymelia
- Short rib cage / thorax
- Short stature / dwarfism / nanism
- Small face
- Stillbirth / neonatal death
- Trident hand / split hand / abnormal median ray

Frequent
- Dilated cerebral ventricles without hydrocephaly
- Frontal bossing / prominent forehead
- Hearing loss / hypoacusia / deafness
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Increased nuchal translucency
- Kyphosis
- Polyhydramnios
- Proptosis / exophthalmos
- Rippled skin

Occasional
- Acanthosis nigricans
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Atrial septal defect / interauricular communication
- Cloverleaf skull
- Hydrocephaly
- Patent ductus arteriosus
- Renal / kidney anomalies
- Restricted joint mobility / joint stiffness / ankylosis