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Ehlers-Danlos syndrome with periventricular heterotopia
1 OMIM reference -
1 associated gene
17 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Chronic mucocutaneous candidiasis
10 OMIM references -
7 associated genes
33 signs/symptoms
Ehlers-Danlos syndrome with periventricular heterotopia
Chronic mucocutaneous candidiasis

FLNA
(UniProt - OMIM)
 CARD9
(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)
FLNA
(0.63)
ICAM1


Citations in the biomedical literature:


Ehlers-Danlos syndrome with periventricular heterotopia
FLNA
Chronic mucocutaneous candidiasis
CARD9 CLEC7A ICAM1 IL17F IL17RA STAT1
TRAF3IP2



Ehlers-Danlos syndrome with periventricular heterotopia
Chronic mucocutaneous candidiasis

Synonym(s):
- EDS with periventricular heterotopia
Synonym(s):
- CMC
- Chronic mucocutaneous candidosis
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare surgical thoracic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Certain infectious and parasitic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: x-linked dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
10 OMIM references -
1 MeSH reference: D002178
COMMON
SIGNS 		- Seizures / epilepsy / absences / spasms / status epilepticus

Ehlers-Danlos syndrome with periventricular heterotopia
Chronic mucocutaneous candidiasis

Very frequent
- Gastric / pyloric stenosis
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Herniae
- Scoliosis
- X-linked dominant inheritance

Frequent
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Cardiac valvulopathy
- Hyperextensible joints / articular hyperlaxity
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Patent ductus arteriosus
- Structural anomalies of the nervous system
- Thin skin

Occasional
- Aortic root dilatation / dilation / aneurysm
- Patella dislocation
- Shoulder dislocation


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