Phenotype: Lower limb amyotrophy (HP:0007210)
Associated genes and diseases:
gene_symbol: BICD2
disease_id: OMIM:615290
disease_name: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT
gene_symbol: ARSI
disease_id: ORPHA:401815
disease_name: Autosomal recessive spastic paraplegia type 66
SPG66
gene_symbol: SLC33A1
disease_id: ORPHA:171863
disease_name: Autosomal dominant spastic paraplegia type 42
SPG42
gene_symbol: NEXMIF
disease_id: OMIM:300912
disease_name: MENTAL RETARDATION, X-LINKED 98
gene_symbol: LAMP2
disease_id: OMIM:300257
disease_name: DANON DISEASE
gene_symbol: MTRFR
disease_id: OMIM:615035
disease_name: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
gene_symbol: KY
disease_id: ORPHA:496689
disease_name: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
Kyphoscoliosis-lateral tongue atrophy-HSP syndrome
gene_symbol: CYP7B1
disease_id: ORPHA:100986
disease_name: Autosomal recessive spastic paraplegia type 5A
SPG5A
gene_symbol: CYP7B1
disease_id: OMIM:270800
disease_name: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
gene_symbol: MYPN
disease_id: ORPHA:171881
disease_name: Cap myopathy
Cap disease
gene_symbol: TPM2
disease_id: ORPHA:171881
disease_name: Cap myopathy
Cap disease
gene_symbol: TPM3
disease_id: ORPHA:171881
disease_name: Cap myopathy
Cap disease
gene_symbol: FBXO38
disease_id: OMIM:615575
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID
gene_symbol: AIMP1
disease_id: OMIM:260600
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 3
gene_symbol: KAT6A
disease_id: OMIM:616268
disease_name: ARBOLEDA-THAM SYNDROME
gene_symbol: NEFH
disease_id: OMIM:616924
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC
gene_symbol: TFG
disease_id: OMIM:615658
disease_name: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE
gene_symbol: VWA1
disease_id: OMIM:619216
disease_name: NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES
gene_symbol: COQ7
disease_id: OMIM:620402
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 9
gene_symbol: ADSS1
disease_id: ORPHA:482601
disease_name: Adenylosuccinate synthetase-like 1-related distal myopathy
ADSSL1-related distal myopathy
gene_symbol: GNE
disease_id: ORPHA:602
disease_name: GNE myopathy
DMRV
Distal myopathy with rimmed vacuoles
Distal myopathy, Nonaka type
HIBM2
Hereditary inclusion body myopathy type 2
IBM2
Inclusion body myopathy type 2
Nonaka myopathy
Quadriceps-sparing myopathy
gene_symbol: HK1
disease_id: ORPHA:99953
disease_name: Charcot-Marie-Tooth disease type 4G
CMT4G
HMSNR
Hereditary motor and sensory neuropathy, Russe Type
gene_symbol: LMNA
disease_id: OMIM:181350
disease_name: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT
gene_symbol: RTN2
disease_id: ORPHA:100993
disease_name: Autosomal dominant spastic paraplegia type 12
SPG12
gene_symbol: UBAP1
disease_id: ORPHA:100993
disease_name: Autosomal dominant spastic paraplegia type 12
SPG12
gene_symbol: NDRG1
disease_id: ORPHA:99950
disease_name: Charcot-Marie-Tooth disease type 4D
CMT4D
HMSN, Lom type
HMSN-Lom
Hereditary motor and sensory neuropathy, Lom type
gene_symbol: PLP1
disease_id: ORPHA:280210
disease_name: Pelizaeus-Merzbacher disease, connatal form
Connatal PMD
Pelizaeus-Merzbacher disease type II
Severe PMD
gene_symbol: ATAD3A
disease_id: ORPHA:496790
disease_name: Ocular anomalies-axonal neuropathy-developmental delay syndrome
Harel-Yoon syndrome
gene_symbol: MFN2
disease_id: OMIM:617087
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
gene_symbol: PDXK
disease_id: OMIM:618511
disease_name: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY
gene_symbol: NEFL
disease_id: OMIM:617882
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
gene_symbol: FARS2
disease_id: OMIM:617046
disease_name: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
gene_symbol: FARS2
disease_id: ORPHA:466722
disease_name: Autosomal recessive spastic paraplegia type 77
SPG77
gene_symbol: MORC2
disease_id: ORPHA:466768
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2Z
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation
CMT2Z
gene_symbol: HYCC1
disease_id: OMIM:610532
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 5
gene_symbol: FITM2
disease_id: OMIM:618635
disease_name: SIDDIQI SYNDROME
gene_symbol: KIF1A
disease_id: OMIM:610357
disease_name: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT
gene_symbol: HMGCR
disease_id: OMIM:620375
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28
gene_symbol: ANO5
disease_id: ORPHA:206549
disease_name: Anoctamin-5-related limb-girdle muscular dystrophy R12
Anoctamin-5-related LGMD R12
Autosomal recessive limb-girdle muscular dystrophy type 2L
LGMD type 2L
LGMD2L
Limb-girdle muscular dystrophy type 2L
gene_symbol: TRPV4
disease_id: OMIM:600175
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII
gene_symbol: TRPV4
disease_id: OMIM:606071
disease_name: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC
gene_symbol: ATL1
disease_id: ORPHA:100984
disease_name: Autosomal dominant spastic paraplegia type 3
Autosomal dominant spastic paraplegia type 3A
SPG3A
Strümpell disease
gene_symbol: ATL1
disease_id: OMIM:613708
disease_name: NEUROPATHY, HEREDITARY SENSORY, TYPE ID
gene_symbol: ATL1
disease_id: OMIM:182600
disease_name: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT
gene_symbol: SCO2
disease_id: OMIM:604377
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: YY1
disease_id: ORPHA:506358
disease_name: Gabriele-de Vries syndrome
YY1 haploinsufficiency syndrome
gene_symbol: CUL4B
disease_id: OMIM:300354
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE
gene_symbol: FLRT1
disease_id: ORPHA:320406
disease_name: Spastic paraplegia-optic atrophy-neuropathy syndrome
SPOAN
gene_symbol: KLC2
disease_id: ORPHA:320406
disease_name: Spastic paraplegia-optic atrophy-neuropathy syndrome
SPOAN
gene_symbol: MAG
disease_id: OMIM:616680
disease_name: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
gene_symbol: MAG
disease_id: ORPHA:459056
disease_name: Autosomal recessive spastic paraplegia type 75
SPG75
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: FLNC
disease_id: OMIM:614065
disease_name: MYOPATHY, DISTAL, 4
gene_symbol: BSCL2
disease_id: OMIM:619112
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC
gene_symbol: HSPB3
disease_id: OMIM:613376
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC
gene_symbol: MUSK
disease_id: OMIM:616325
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
gene_symbol: MME
disease_id: OMIM:617017
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T
gene_symbol: CADM3
disease_id: OMIM:619519
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF
gene_symbol: PTRHD1
disease_id: OMIM:620747
disease_name: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES
gene_symbol: PDK3
disease_id: OMIM:300905
disease_name: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6
gene_symbol: PDK3
disease_id: ORPHA:352675
disease_name: X-linked Charcot-Marie-Tooth disease type 6
CMT6X
CMTX6
gene_symbol: HSPB1
disease_id: OMIM:606595
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
gene_symbol: HSPB1
disease_id: ORPHA:99940
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2F
CMT2F
gene_symbol: ATXN3
disease_id: ORPHA:276244
disease_name: Machado-Joseph disease type 3
SCA3, Machado type
Spinocerebellar ataxia type 3, Machado type
gene_symbol: ATXN3
disease_id: ORPHA:276241
disease_name: Machado-Joseph disease type 2
SCA3, Thomas type
Spinocerebellar ataxia, Thomas type
gene_symbol: ATXN3
disease_id: ORPHA:276238
disease_name: Machado-Joseph disease type 1
SCA3, Joseph type
Spinocerebellar ataxia type 3, Joseph type
gene_symbol: GJB1
disease_id: ORPHA:101075
disease_name: X-linked Charcot-Marie-Tooth disease type 1
CMT1X
CMTX1
gene_symbol: GJB1
disease_id: OMIM:302800
disease_name: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1
gene_symbol: GJB1
disease_id: ORPHA:1175
disease_name: X-linked progressive cerebellar ataxia
gene_symbol: SLC12A6
disease_id: OMIM:620068
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II
gene_symbol: RAB7A
disease_id: OMIM:600882
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B
gene_symbol: FBLN5
disease_id: OMIM:619764
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H
gene_symbol: KDM5C
disease_id: OMIM:300534
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
gene_symbol: DNAJB2
disease_id: OMIM:614881
disease_name: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
gene_symbol: ALS2
disease_id: OMIM:205100
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE
gene_symbol: SPTAN1
disease_id: OMIM:620528
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: SPG11
disease_id: OMIM:616668
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X
gene_symbol: MT-TE
disease_id: ORPHA:2596
disease_name: Myopathy and diabetes mellitus
gene_symbol: CPT1C
disease_id: ORPHA:444099
disease_name: Autosomal dominant spastic paraplegia type 73
SPG73
gene_symbol: KIF5A
disease_id: ORPHA:100991
disease_name: Autosomal dominant spastic paraplegia type 10
SPG10
gene_symbol: GNB4
disease_id: OMIM:615185
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F
gene_symbol: TCAP
disease_id: OMIM:601954
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7
gene_symbol: COL6A1
disease_id: OMIM:158810
disease_name: BETHLEM MYOPATHY 1
gene_symbol: INF2
disease_id: OMIM:614455
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
gene_symbol: AARS1
disease_id: OMIM:613287
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N
gene_symbol: WARS1
disease_id: OMIM:617721
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IX
gene_symbol: AIFM1
disease_id: OMIM:310490
disease_name: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA
gene_symbol: B4GALNT1
disease_id: OMIM:609195
disease_name: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE
gene_symbol: PMP22
disease_id: ORPHA:90658
disease_name: Charcot-Marie-Tooth disease type 1E
CMT1E
Charcot-Marie-Tooth disease-deafness syndrome
Charcot-Marie-Tooth disease-hearing loss syndrome
gene_symbol: DYSF
disease_id: ORPHA:45448
disease_name: Miyoshi myopathy
gene_symbol: KRT5
disease_id: ORPHA:79396
disease_name: Autosomal dominant generalized epidermolysis bullosa simplex, severe form
Autosomal dominant generalized EBS, severe form
Epidermolysis bullosa simplex herpetiformis
Epidermolysis bullosa simplex, Dowling-Meara type
gene_symbol: KRT14
disease_id: ORPHA:79396
disease_name: Autosomal dominant generalized epidermolysis bullosa simplex, severe form
Autosomal dominant generalized EBS, severe form
Epidermolysis bullosa simplex herpetiformis
Epidermolysis bullosa simplex, Dowling-Meara type
gene_symbol: FGD4
disease_id: OMIM:609311
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
gene_symbol: RILPL1
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: ABCD3
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: GIPC1
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: LRP12
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: NOTCH2NLC
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: NUTM2B-AS1
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: RYR1
disease_id: ORPHA:98905
disease_name: Congenital multicore myopathy with external ophthalmoplegia
gene_symbol: TTN
disease_id: OMIM:600334
disease_name: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
gene_symbol: MYH7
disease_id: OMIM:160500
disease_name: MYOPATHY, DISTAL, 1