Hereditary neurological disorders

This group contains neuro-muscular disorders that cluster in families.

Systematic

Hereditary diseases
	Disposition to infections
	Genetic alterations of drug tolerance
	Hereditary broncho-pulmonary disease
	Hereditary cardiac disease
	Hereditary dermatological disorders
	Hereditary diseases of the hematopoetic system and coagulopathies
	Hereditary endocrinological diseases
	Hereditary immunological disorders
	Hereditary kidney diseases
	Hereditary liver disease
	Hereditary malformations
	Hereditary metabolic diseases
	Hereditary musculoskeletal diseases
	Hereditary neurological disorders
		Alzheimer disease
			APOE
			APP
			CLU
			CYP2D6
			HFE
		Arts syndrome
			PRPS1
		Ataxia-pancytopenia syndrome
			SAMD9L
		Autism
			Aniridia-Wilms-tumor syndrome
				PAX6
				WT1
			Intellectual disability-severe speech delay-mild dysmorphism syndrome
				FOXP1
			Williams-Beuren syndrome
				ELN
			X-linked susceptibility to autism 3
				MECP2
		Autosomal dominant cerebellar ataxia, deafness and narcolepsy
			DNMT1
		Autosomal recessive spastic paraplegia type 44
			GJC2
		Brain malformations with urinary tract defects
			NFIA
		Brain small vessel disease with hemorrhage
			COL4A1
			COL4A2
		Brunner syndrome
			MAOA
		Charcot-Marie-Tooth disease
			INF2
			X-linked Charcot-Marie-Tooth disease type 5
				PRPS1
		Congenital insensitivity to pain with anhidrosis
			NTRK1
		Epilepsy syndrome
			Isolated focal cortical dysplasia type 2
				MTOR
				TSC1
				TSC2
		Hereditary benign chorea
			NKX2-1
		Hereditary brain tumors
			Susceptibility to glioma
				IDH1
			Tuberous sclerosis complex
				Tuberous sclerosis 1
					TSC1
				Tuberous sclerosis 2
					IFNG
					TSC2
		Hereditary distal motor neuron neuropathy type 5A
			BSCL2
		Hereditary muscle diseases
			Inclusion body myopathy 2
				GNE
			Nonaka myopathy
				GNE
			Polyglucosan body myopathy type 1
				RBCK1
		Hereditary sensory and autonomic neuropathy type 2A
			WNK1
		Hereditary sensory neuropathy type 1E
			DNMT1
		Hypokalemic periodic paralysis 1
			CACNA1S
		Hypomyelinating Leukodystrophy 2
			GJC2
		Idiopathic basal ganglia calcification 1
			SLC20A2
		Intellectual disability-severe speech delay-mild dysmorphism syndrome
			FOXP1
		Migraine
			TNF
		Nemaline myopathy 5
			TNNT1
		Porencephaly
			Porencephaly 1
				COL4A1
			Porencephaly 2
				COL4A2
		Rett syndrome
			Atypical Rett syndrome
				MECP2
			MECP2
			Rett syndrome variant with preserved speech
				MECP2
		Severe neonatal-onset encephalopathy with microcephaly
			MECP2
		Spastic paraplegia 17 with amyotrophy of hands and feet
			BSCL2
		Susceptibility to glioma
			IDH1
		Tuberous sclerosis complex
			Tuberous sclerosis 1
				TSC1
			Tuberous sclerosis 2
				IFNG
				TSC2
		Vascular dementia
			TNF
		X-linked syndromic mental retardation 13
			MECP2
			X-linked syndromic mental retardation Lubs type
				MECP2
	Hereditary ocular disease and visual impairment
	Hereditary otorhinolaryngological disorders
	Hereditary pancreatic disease
	Hereditary tumors
	Hereditary vascular disease
	Hypertension

References:

1.	Guttman M et al. (2003) Current concepts in the diagnosis and management of Parkinson's disease.

2.	Turnbull J et al. (2005) Sacred disease secrets revealed: the genetics of human epilepsy.

Update: June 23, 2025

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