Autosomal recessive spastic paraplegia type 44

Autosomal recessive spastic paraplegia type 44 is a neurological disorder caused by mutations of the GJC2 gene.

Systematic

Hereditary neurological disorders
	Alzheimer disease
	Arts syndrome
	Ataxia-pancytopenia syndrome
	Autism
	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
	Autosomal recessive spastic paraplegia type 44
		GJC2
	Brain malformations with urinary tract defects
	Brain small vessel disease with hemorrhage
	Brunner syndrome
	Charcot-Marie-Tooth disease
	Congenital insensitivity to pain with anhidrosis
	Epilepsy syndrome
	Hereditary benign chorea
	Hereditary brain tumors
	Hereditary distal motor neuron neuropathy type 5A
	Hereditary muscle diseases
	Hereditary sensory and autonomic neuropathy type 2A
	Hereditary sensory neuropathy type 1E
	Hypokalemic periodic paralysis 1
	Hypomyelinating Leukodystrophy 2
	Idiopathic basal ganglia calcification 1
	Intellectual disability-severe speech delay-mild dysmorphism syndrome
	Migraine
	Nemaline myopathy 5
	Porencephaly
	Rett syndrome
	Severe neonatal-onset encephalopathy with microcephaly
	Spastic paraplegia 17 with amyotrophy of hands and feet
	Susceptibility to glioma
	Tuberous sclerosis complex
	Vascular dementia
	X-linked syndromic mental retardation 13

References:

1.	Orthmann-Murphy JL et al. (2009) Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

2.	OMIM.ORG article Omim 613206

3.	Orphanet article Orphanet ID 320401

Update: June 23, 2025

Copyright © 2005-2025 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits