Disease #00195

Official abbreviation HMN-5A
Name neuropathy, motor, distal, hereditary, type Va (HMN-5A)
OMIM ID 600794
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 22
Phenotype entries for this disease 21
Associated with 2 genes BSCL2, GARS
Associated tissues -
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Individuals

22 entries on 1 page. Showing entries 1 - 22.
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00002646 - - test - - ? (unknown) - - 0 - - HMN-5A - - - 0 1 Johan den Dunnen
00002781 - PubMed: Windpassinger 2004 - - - Austria - - - - - HMN-5A hereditary motor neuropathy, distal (dHMN) BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002782 - PubMed: Windpassinger 2004 - - - Austria - - - - - HMN-5A hereditary motor neuropathy, distal (dHMN) BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002783 - PubMed: Windpassinger 2004 - - - Austria - - - - - HMN-5A hereditary motor neuropathy, distal (dHMN) BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002784 - PubMed: Windpassinger 2004 - - - Austria - - - - - HMN-5A hereditary motor neuropathy, distal (dHMN) BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002785 - PubMed: Windpassinger 2004 - - - Austria - - - - - HMN-5A hereditary motor neuropathy, distal (dHMN) BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002786 - PubMed: Windpassinger 2004 - - - Austria - - - - - HMN-5A hereditary motor neuropathy, distal (dHMN) BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002787 - PubMed: Windpassinger 2004 - - - Austria - - - - - HMN-5A hereditary motor neuropathy, distal (dHMN) BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002788 - PubMed: Windpassinger 2004 - - - Austria - - - - - HMN-5A hereditary motor neuropathy, distal (dHMN) BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002789 - PubMed: Windpassinger 2004 - - - Italy - - - - - HMN-5A hereditary motor neuropathy, distal (dHMN) BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002802 - PubMed: Rohkamm 2007 - - ? Austria - - 0 - - HMN-5A hereditary motor neuropathy, distal (dHMN) BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002803 - PubMed: Rohkamm 2007 - M ? Austria - - 0 - - HMN-5A hereditary motor neuropathy, distal (dHMN) BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002836 - - - - - Spain - - - - - HMN-5A perypheral neuropathy (PNP); sensory-motor PNP with pyramidal signs BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002844 - - - - - Spain - - 0 - - HMN-5A CMT2; CMT with and without pyramidal signs BSCL2 BSCL2 1 2 María-Jesús Sobrido
00002855 - PubMed: Irobi et al., 2004 5 generation family, 12 mutationpositive reported - no Italy - - 0 - - HMN-5A HMN II, dHMN BSCL2 BSCL2, HNRNPUL2-BSCL2 1 12 María-Jesús Sobrido
00002858 - PubMed: Brugman et al., J. Neurol. 2009 27 affected - ? Denmark - - - - - HMN-5A Hereditary spastic paraparesis and primary lateral sclerosis BSCL2 BSCL2, HNRNPUL2-BSCL2 1 27 María-Jesús Sobrido
00002859 - PubMed: Brusse et al., Neurogenetics 2009 4 generation family, 11 mutationpositive reported - no Netherlands - - 0 - - HMN-5A dHMN BSCL2 BSCL2, HNRNPUL2-BSCL2 1 11 María-Jesús Sobrido
00002861 - PubMed: Chen et al., Neuropathology 2009 4 generation family, 5 mutation positive reported - ? China - - 0 - - HMN-5A dHMN BSCL2 BSCL2, HNRNPUL2-BSCL2 1 5 María-Jesús Sobrido
00002862 - PubMed: Dierick et al., Brain 2008 - ? ? ? (unknown) - - 0 - - HMN-5A - BSCL2 BSCL2, HNRNPUL2-BSCL2 1 1 María-Jesús Sobrido
00002863 - PubMed: Dierick et al., Brain 2008 - ? ? Poland - - 0 - - HMN-5A - BSCL2 BSCL2, HNRNPUL2-BSCL2 1 1 María-Jesús Sobrido
00002899 - PubMed: Luigetti et al., Muscle Nerve 2010 3 mutation positive reported - ? Italy - - 0 - - HMN-5A CMT2/dHMN and piramidal signs BSCL2 BSCL2, HNRNPUL2-BSCL2 1 3 María-Jesús Sobrido
00002907 - PubMed: Yagi et al., Hum. Mol. Genet. 2011 1 mutationpositive reported - ? Japan - - - - - HMN-5A Progressive spastic motor deficit, reactive gliosis in the spinal cord & neurogenic muscular atrophy; - - 0 1 María-Jesús Sobrido
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