HMN5A
MCID: NRN037
MIFTS: 49
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Neuronopathy, Distal Hereditary Motor, Type Va (HMN5A)
Categories:
Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Neuronopathy, Distal Hereditary Motor, Type Va:
Name: Neuronopathy, Distal Hereditary Motor, Type Va
56
Characteristics:Orphanet epidemiological data:58
distal hereditary motor neuropathy type 5
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
slow disease progression mean age of onset 18 years allelic disorder to charcot-marie-tooth disease type 2d (cmt2d, ), but distinguished by less severe distal sensory involvement allelic disorder to silver syndrome , but distinguished by lack of spasticity HPO:31
neuronopathy, distal hereditary motor, type va:
Inheritance autosomal dominant inheritance Onset and clinical course onset slow progression Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Muscle diseases
ICD10:
33
Orphanet: 58
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Genetics Home Reference :
25
Distal hereditary motor neuropathy, type V is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement of the hands and feet.
Symptoms of distal hereditary motor neuropathy, type V usually begin during adolescence, but onset varies from infancy to the mid-thirties. Cramps in the hand brought on by exposure to cold temperatures are often the initial symptom.
The characteristic features of distal hereditary motor neuropathy, type V are weakness and wasting (atrophy) of muscles of the hand, specifically on the thumb side of the index finger and in the palm at the base of the thumb. Foot abnormalities, such as a high arch (pes cavus), are also common, and some affected individuals eventually develop problems with walking (gait disturbance). People with this disorder have normal life expectancies.
MalaCards based summary : Neuronopathy, Distal Hereditary Motor, Type Va, also known as distal hereditary motor neuronopathy type 5, is related to spastic paraplegia 17, autosomal dominant and gars1-associated axonal neuropathy. An important gene associated with Neuronopathy, Distal Hereditary Motor, Type Va is GARS1 (Glycyl-TRNA Synthetase 1), and among its related pathways/superpathways are Gene Expression and tRNA Aminoacylation. Affiliated tissues include spinal cord, and related phenotypes are impaired vibratory sensation and distal lower limb muscle weakness Disease Ontology : 12 An autosomal dominant distal hereditary motor neuronopathy characterized by muscle weakness and wasting, predominantly confined to the hands, and often exclusively involve thenar and/or interosseus dorsalis I eminences. UniProtKB/Swiss-Prot : 73 Neuronopathy, distal hereditary motor, 5A: A disorder characterized by distal muscular atrophy mainly affecting the upper extremities, in contrast to other distal motor neuronopathies. These constitute a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs.
More information from OMIM:
600794
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Human phenotypes related to Neuronopathy, Distal Hereditary Motor, Type Va:58 31 (show all 19)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:600794GenomeRNAi Phenotypes related to Neuronopathy, Distal Hereditary Motor, Type Va according to GeneCards Suite gene sharing:26
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Cochrane evidence based reviews: neuronopathy, distal hereditary motor, type v |
MalaCards organs/tissues related to Neuronopathy, Distal Hereditary Motor, Type Va:40
Spinal Cord
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Articles related to Neuronopathy, Distal Hereditary Motor, Type Va:(show all 32)
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ClinVar genetic disease variations for Neuronopathy, Distal Hereditary Motor, Type Va:6 (show top 50) (show all 118)
UniProtKB/Swiss-Prot genetic disease variations for Neuronopathy, Distal Hereditary Motor, Type Va:73
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Cellular components related to Neuronopathy, Distal Hereditary Motor, Type Va according to GeneCards Suite gene sharing:
Biological processes related to Neuronopathy, Distal Hereditary Motor, Type Va according to GeneCards Suite gene sharing:
Molecular functions related to Neuronopathy, Distal Hereditary Motor, Type Va according to GeneCards Suite gene sharing:(show all 11)
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