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Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Microcephaly - lymphedema - chorioretinopathy

1 OMIM reference -
1 associated gene
48 signs/symptoms

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation

Microcephaly - lymphedema - chorioretinopathy

KIF5A

(UniProt - OMIM)

KIF11

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KIF5A	(0.49)	KIF11

Citations in the biomedical literature:

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation		Microcephaly - lymphedema - chorioretinopathy
	Synonym(s): - CMT due to KIF5A mutation		Synonym(s): - MLCRD

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare skin disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537711

Microcephaly - lymphedema - chorioretinopathy
	Very frequent - Anomalies of eyes and vision - Lymphedema - Microcephaly Frequent - Abnormal nails colour / leukonychia / melanonychia - Abnormal toenails - Cutaneous edema - Hair and scalp anomalies - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Myopia - Retinitis pigmentosa / retinal pigmentary changes Occasional - Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax - Anomalies of eyelids, eyelashes and lacrimal system - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Anteverted nares / nostrils - Atrial septal defect / interauricular communication - Autosomal dominant inheritance - Autosomal recessive inheritance - Broad cheeks / cherub-like / cherubin face - Broad nose / nasal bridge - Cataract / lens opacification - Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue - Chronic skin infection / ulcerations / ulcers / cancrum - Dry / squaly skin / exfoliation - Epicanthic folds - Erysipela - Flat supraorbital ridge - Gangrena / necrosis - Glaucoma - Hematologic / blood / lymphatic cancer - Hypertonia / spasticity / rigidity / stiffness - Long philtrum - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Pointed chin - Prominent / bat ears - Ptosis - Retinal detachment - Retinal / chorioretinal dysplasia / dystrophy - Retinopathy - Seizures / epilepsy / absences / spasms / status epilepticus - Short stature / dwarfism / nanism - Sloping forehead - Subcutaneous nodules / lipomas / tumefaction / swelling - Thick lips - Thick skin / pachydermia / orange skin - Upslanted palpebral fissures / mongoloid slanting palpebral fissures - Venous thrombosis / phlebitis / thrombophlebitis - Visual loss / blindness / amblyopia
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
(no data available)