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Klippel-Trénaunay syndrome
1 OMIM reference -
1 associated gene
32 signs/symptoms
PROTEIN INTERACTIONS: 1
Choroideremia
1 OMIM reference -
2 associated genes
8 signs/symptoms
Klippel-Trénaunay syndrome
Choroideremia

AGGF1
(UniProt - OMIM)
 CHM
(UniProt - OMIM)
RPE65
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
AGGF1
(0.63)
CHM


Citations in the biomedical literature:


Klippel-Trénaunay syndrome
AGGF1
Choroideremia
CHM RPE65



Klippel-Trénaunay syndrome
Choroideremia

Synonym(s):
(no synonyms)

Synonym(s):
- CHM
- Tapetochoroidal dystrophy
Classification (Orphanet):
- Rare bone disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the eye and adnexa -
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D015794
Klippel-Trénaunay syndrome
Choroideremia

Very frequent
- Anomalies of bones / skeletal anomalies
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Upper limb asymmetry / hemiatrophy / hemihypertrophy
- Varices / varicous veins / venous insufficiency

Frequent
- Autosomal dominant inheritance
- Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Pulmonary thromboembolism
- Tall stature / gigantism / growth acceleration
- Venous thrombosis / phlebitis / thrombophlebitis

Occasional
- Ascitis
- Atrial septal defect / interauricular communication
- Blood hyperviscosity / hypercoagulability
- Cutaneous edema
- Heart / cardiac failure
- Hematuria / microhematuria
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hydrops fetalis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Internal hemorrhage
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea
- Microcephaly
- Microcytic anemia
- Patent ductus arteriosus
- Peripheral arteriovenous fistula
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Skull / cranial anomalies
- Tricuspid valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly


Very frequent
- Abnormal ERG / electroretinogram / electroretinography
- Anomalies of eyes and vision
- Mild visual loss / impaired visual acuity
- Myopia
- Night blindness / hemeralopia
- Retinitis pigmentosa / retinal pigmentary changes
- X-linked recessive inheritance

Frequent
- Visual loss / blindness / amblyopia