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NBIA2A
MCID: NRD033
MIFTS: 55
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Neurodegeneration with Brain Iron Accumulation 2a (NBIA2A)
Categories:
Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Neurodegeneration with Brain Iron Accumulation 2a:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset usually in infancy or up to 2 years of age although later onset has been reported ('late-infantile') death usually by age 10 years allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, ) phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, ) HPO:32
neurodegeneration with brain iron accumulation 2a:
Onset and clinical course infantile onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases Mental diseases
ICD10:
33
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NINDS
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54
Infantile neuroaxonal dystrophy (INAD) is a rare inherited neurological disorder. It affects axons, the part of a nerve cell that carries messages from the brain to other parts of the body, and causes progressive loss of vision, muscular control, and mental skills. While the basic genetic and metabolic causes are unknown, INAD is the result of an abnormal build-up of toxic substances in nerves that communicate with muscles, skin, and the conjunctive tissue around the eyes. Symptoms usually begin within the first 2 years of life, with the loss of head control and the ability to sit, crawl, or walk, accompanied by deterioration in vision and speech. Some children may have seizures. Distinctive facial deformities may be present at birth, including a prominent forehead, crossed eyes, an unusually small nose or jaw, and large, low-set ears. INAD is an autosomal recessive disorder, which means that both parents must be carriers of the defective gene that causes INAD to pass it on to their child. Electrophysiology (nerve conduction velocities) may be helpful for diagnosis, although diagnosis is usually confirmed by tissue biopsy of skin, rectum, nerve or conjunctive tissue to confirm the presence of characteristic swellings (spheroid bodies) in the nerve axons.
MalaCards based summary : Neurodegeneration with Brain Iron Accumulation 2a, also known as infantile neuroaxonal dystrophy, is related to neurodegeneration with brain iron accumulation 2b and neuroaxonal dystrophy, and has symptoms including seizures, ataxia and abnormal pyramidal signs. An important gene associated with Neurodegeneration with Brain Iron Accumulation 2a is PLA2G6 (Phospholipase A2 Group VI), and among its related pathways/superpathways is Metabolism. The drugs Desipramine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and eye, and related phenotypes are frontal bossing and nystagmus Disease Ontology : 12 A neurodegeneration with brain iron accumulation that has material basis in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life. Genetics Home Reference : 25 Infantile neuroaxonal dystrophy is a disorder that primarily affects the nervous system. Individuals with infantile neuroaxonal dystrophy typically do not have any symptoms at birth, but between the ages of about 6 and 18 months they begin to experience delays in acquiring new motor and intellectual skills, such as crawling or beginning to speak. Eventually they lose previously acquired skills (developmental regression). In some cases, signs and symptoms of infantile neuroaxonal dystrophy first appear later in childhood or during the teenage years and progress more slowly. NIH Rare Diseases : 53 Infantile neuroaxonal dystrophy is a type of lipid storage disorder that mostly affects the nervous system. It has two forms, a classic form and an atypical form. The classic form is usually diagnosed in infancy or early childhood and leads to a progressive loss of vision and developmental milestones. The atypical form usually begins in early childhood, but can start as late as the teens. Infantile neuroaxonal dystrophy is caused by changes (pathogenic variants) in the PLA2G6 gene and is inherited in an autosomal recessive pattern. OMIM : 57 Neurodegeneration with brain iron accumulation-2A is an autosomal recessive neurodegenerative disease characterized by onset in the first 2 years of life; it is also referred to as infantile neuroaxonal dystrophy (INAD). Pathologic findings include axonal swelling and spheroid bodies in the central nervous system (review by Gregory et al., 2009). (256600) UniProtKB/Swiss-Prot : 75 Neurodegeneration with brain iron accumulation 2A: A neurodegenerative disease characterized by pathologic axonal swelling and spheroid bodies in the central nervous system. Onset is within the first 2 years of life with death by age 10 years.
GeneReviews:
NBK1675
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:256600Human phenotypes related to Neurodegeneration with Brain Iron Accumulation 2a:32 (show all 34)
UMLS symptoms related to Neurodegeneration with Brain Iron Accumulation 2a:seizures, ataxia, abnormal pyramidal signs, gait ataxia, dysdiadochokinesis, action tremor, bradykinesia, weakness, cerebellar ataxia, muscle spasticity GenomeRNAi Phenotypes related to Neurodegeneration with Brain Iron Accumulation 2a according to GeneCards Suite gene sharing:26 (show all 11)
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Drugs for Neurodegeneration with Brain Iron Accumulation 2a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 9)
Interventional clinical trials:
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MalaCards organs/tissues related to Neurodegeneration with Brain Iron Accumulation 2a:41
Brain,
Skin,
Eye,
Cortex,
Kidney,
Bone,
Heart
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Articles related to Neurodegeneration with Brain Iron Accumulation 2a:(show top 50) (show all 109)
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Genes related to Neurodegeneration with Brain Iron Accumulation 2a (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Neurodegeneration with Brain Iron Accumulation 2a:75
ClinVar genetic disease variations for Neurodegeneration with Brain Iron Accumulation 2a:6 (show top 50) (show all 149)
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Search
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