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Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13 (HMND13)
Alias:
Neuronopathy, Distal Hereditary Motor, Type 5c
|
Hmnd13
|
Dhmn5c
|
Dsmavc
|
Hmn5c
|
Autosomal Dominant Distal Hereditary Motor Neuronopathy 13
|
Neuronopathy, Distal Hereditary Motor, Harding Type Vc
|
Neuropathy, Distal Hereditary Motor, Harding Type Vc
|
Spinal Muscular Atrophy, Distal, Harding Type Vc
|
Neuronopathy, Distal Hereditary Motor, Type Vc
|
Distal Hereditary Motor Neuronopathy Type Vc
|
Neuronopathy, Distal Hereditary Motor, 5c
|
Spinal Muscular Atrophy, Distal, Type 5c
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Spinal Muscular Atrophy, Distal, Type Vc
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Distal Spinal Muscular Atrophy Type 5c
|
Dhmn Vc
|
Dsma5c
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Autosomal dominant distal hereditary motor neuronopathy-13 (HMND13) is a neurologic disorder characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, leading to difficulty walking and poor fine hand motor skills. Some patients may exhibit spasticity and hyperreflexia, particularly in the lower limbs. This disorder overlaps with Silver syndrome and Charcot-Marie-Tooth type 2 (CMT2) due to mutations in the BSCL2 gene on chromosome 11q12. Variability in symptoms can be observed even within the same family, with features ranging from distal sensory impairment to axonal sensorimotor peripheral neuropathy. HMND13 inheritance is autosomal dominant with incomplete penetrance.
Related ID:
MALACARDS: NRN073
|
OMIM: 619112
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MESH: D009134
Basic Information
Inheritance
Age of Onset
Prevalence
Related Genes
Related Mouse Models
Reference
MALACARDS
AD
Autosomal dominant
Unknown
--
20
184
12
NRN073
Medical Symptom
Phenotype Information Associated with the Current Disease:
Categorization: Anatomical classification of the disease manifestations.
HPO Frequency/Orphanet Frequency: Indicates the probability of the manifestation occurring in the current disease, allowing sorting by probability.
HPO Source Accession: Links to HPO for detailed manifestation information.
Data Source: HPO, Orphanet
Gene & Mutation
Genes and Mutations Associated with the Current Disease:
Function: Primary biological roles of the genes.
Score: Indicates the strength of the association between the disease and the gene, with higher scores reflecting stronger associations.
Count: Number of mutations associated with the disease-gene pair. The number in parentheses represents the total data points linked to the same ClinVar ID. Clicking the number reveals mutation details.
Data Source: Clinvar
Related Drugs
Drugs Related to the Current Gene, Displaying CAS Number, Status and Phase.
Data Source: Clinical Trials
Related Mouse Models
Mouse Models Related to the Current Gene. Click on the model name to view detailed information.
Data Source: MGI, Cyagen
References Literature
Most Relevant Literature for the Current Gene, Filterable by Year, Article Type, and Sortable by Impact Factor.
Data Source: UniProt, PubMed
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