Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated genes and diseases:
gene_symbol: CHRNA1
disease_id: OMIM:601462
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
gene_symbol: NGLY1
disease_id: OMIM:615273
disease_name: CONGENITAL DISORDER OF DEGLYCOSYLATION
gene_symbol: TRIM2
disease_id: OMIM:615490
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R
gene_symbol: HINT1
disease_id: ORPHA:324442
disease_name: Autosomal recessive axonal neuropathy with neuromyotonia
ARAN-NM
ARCMT2-NM
Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia
gene_symbol: JAG1
disease_id: OMIM:619574
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH
gene_symbol: HSPB3
disease_id: OMIM:613376
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC
gene_symbol: VCP
disease_id: ORPHA:329478
disease_name: Adult-onset distal myopathy due to VCP mutation
gene_symbol: MORC2
disease_id: OMIM:616688
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
gene_symbol: CAV3
disease_id: OMIM:614321
disease_name: MYOPATHY, DISTAL, TATEYAMA TYPE
gene_symbol: CAV3
disease_id: ORPHA:488650
disease_name: Distal myopathy, Tateyama type
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: FLNC
disease_id: ORPHA:63273
disease_name: Distal myopathy with posterior leg and anterior hand involvement
Distal ABD-filaminopathy
gene_symbol: PDK3
disease_id: OMIM:300905
disease_name: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6
gene_symbol: SVBP
disease_id: OMIM:618569
disease_name: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY
gene_symbol: SQSTM1
disease_id: ORPHA:603
disease_name: Distal myopathy, Welander type
WDM
gene_symbol: TIA1
disease_id: ORPHA:603
disease_name: Distal myopathy, Welander type
WDM
gene_symbol: GDAP1
disease_id: ORPHA:101097
disease_name: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
ARCMT2K
Autosomal recessive axonal CMT4C4
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
gene_symbol: SLC12A6
disease_id: OMIM:620068
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II
gene_symbol: SPTLC1
disease_id: OMIM:620285
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE
gene_symbol: TIMM8A
disease_id: OMIM:304700
disease_name: MOHR-TRANEBJAERG SYNDROME
gene_symbol: RYR1
disease_id: ORPHA:178145
disease_name: Moderate multiminicore disease with hand involvement
gene_symbol: KLHL9
disease_id: ORPHA:399081
disease_name: KLHL9-related early-onset distal myopathy
gene_symbol: HNRNPA1
disease_id: ORPHA:399086
disease_name: Finnish upper limb-onset distal myopathy
Distal myopathy type 3
MPD3
gene_symbol: DYSF
disease_id: ORPHA:178400
disease_name: Distal myopathy with anterior tibial onset
Distal anterior compartment myopathy
gene_symbol: DYSF
disease_id: ORPHA:45448
disease_name: Miyoshi myopathy
gene_symbol: KIF1A
disease_id: OMIM:614213
disease_name: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
gene_symbol: PRX
disease_id: OMIM:614895
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
gene_symbol: HARS1
disease_id: ORPHA:488333
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2W
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation
CMT2W
gene_symbol: CHCHD10
disease_id: ORPHA:276435
disease_name: Lower motor neuron syndrome with late-adult onset
LOSMoN
Late-onset spinal motor neuronopathy
SMAJ
Spinal muscular atrophy, Jokela type
gene_symbol: LDB3
disease_id: ORPHA:98912
disease_name: Late-onset distal myopathy, Markesbery-Griggs type
ZASP-related myofibrillar myopathy
gene_symbol: PMP22
disease_id: ORPHA:3115
disease_name: Roussy-Lévy syndrome
Hereditary areflexic dystasia, Roussy-Lévy type
gene_symbol: MPZ
disease_id: ORPHA:3115
disease_name: Roussy-Lévy syndrome
Hereditary areflexic dystasia, Roussy-Lévy type