Phenotype: Spastic gait (HP:0002064)
Associated genes and diseases:
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:182600
disease_name: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT
gene_symbol: SPART
disease_id: OMIM:275900
disease_name: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE
gene_symbol: SPART
disease_id: ORPHA:101000
disease_name: Autosomal recessive spastic paraplegia type 20
Childhood-onset spastic paraparesis-distal muscle wasting syndrome
SPG20
Troyer syndrome
gene_symbol: KCNA1
disease_id: OMIM:160120
disease_name: EPISODIC ATAXIA, TYPE 1
gene_symbol: KCNA1
disease_id: ORPHA:972
disease_name: Hereditary continuous muscle fiber activity
gene_symbol: WASHC5
disease_id: ORPHA:100989
disease_name: Autosomal dominant spastic paraplegia type 8
SPG8
gene_symbol: WASHC5
disease_id: OMIM:603563
disease_name: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT
gene_symbol: MAG
disease_id: OMIM:616680
disease_name: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
gene_symbol: APC
disease_id: ORPHA:261584
disease_name: Familial adenomatous polyposis due to 5q22.2 microdeletion
Colorectal adenomatous polyposis due to monosomy 5q22.2
FAP due to monosomy 5q22.2
Familial adenomatous polyposis due to del(5)(q22.2)
Familial adenomatous polyposis due to monosomy 5q22.2
Familial polyposis coli due to monosomy 5q22.2
gene_symbol: UBA5
disease_id: OMIM:617133
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24
gene_symbol: ALS2
disease_id: OMIM:606353
disease_name: PRIMARY LATERAL SCLEROSIS, JUVENILE
gene_symbol: ALS2
disease_id: ORPHA:247604
disease_name: Juvenile primary lateral sclerosis
JPLS
Juvenile PLS
gene_symbol: ALS2
disease_id: OMIM:205100
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE
gene_symbol: SPTAN1
disease_id: OMIM:620540
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY
gene_symbol: SPTAN1
disease_id: OMIM:620538
disease_name: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA
gene_symbol: ERLIN2
disease_id: ORPHA:247604
disease_name: Juvenile primary lateral sclerosis
JPLS
Juvenile PLS
gene_symbol: SPG7
disease_id: ORPHA:99013
disease_name: Spastic paraplegia type 7
SPG7
gene_symbol: SPG7
disease_id: OMIM:607259
disease_name: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
gene_symbol: SPG7
disease_id: ORPHA:35689
disease_name: Primary lateral sclerosis
Adult-onset PLS
Adult-onset primary lateral sclerosis
PLS
gene_symbol: PLP1
disease_id: ORPHA:99015
disease_name: Spastic paraplegia type 2
SPG2
Spastic gait type 2
Spastic paraparesis type 2
X-linked spastic paraplegia type 2
gene_symbol: PLP1
disease_id: OMIM:312920
disease_name: SPASTIC PARAPLEGIA 2, X-LINKED
gene_symbol: NIPA1
disease_id: OMIM:600363
disease_name: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT
gene_symbol: TMEM63C
disease_id: OMIM:619966
disease_name: SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE
gene_symbol: KIF1A
disease_id: OMIM:610357
disease_name: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT
gene_symbol: KIF1A
disease_id: ORPHA:101010
disease_name: Autosomal spastic paraplegia type 30
SPG30
gene_symbol: SLC33A1
disease_id: OMIM:612539
disease_name: SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT
gene_symbol: SLC33A1
disease_id: ORPHA:171863
disease_name: Autosomal dominant spastic paraplegia type 42
SPG42
gene_symbol: SLC25A15
disease_id: ORPHA:415
disease_name: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
HHH syndrome
ORNT1 deficiency
Ornithine carrier deficiency
Ornithine translocase deficiency
Triple H syndrome
gene_symbol: SLC25A15
disease_id: OMIM:238970
disease_name: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
gene_symbol: TACO1
disease_id: OMIM:619052
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8
gene_symbol: REEP1
disease_id: ORPHA:101011
disease_name: Autosomal dominant spastic paraplegia type 31
SPG31
gene_symbol: REEP1
disease_id: OMIM:610250
disease_name: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT
gene_symbol: MECP2
disease_id: OMIM:300055
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13
gene_symbol: ABCD1
disease_id: ORPHA:139399
disease_name: Adrenomyeloneuropathy
gene_symbol: REEP2
disease_id: OMIM:620606
disease_name: SPASTIC PARAPLEGIA 72B, AUTOSOMAL RECESSIVE
gene_symbol: REEP2
disease_id: ORPHA:401849
disease_name: Autosomal spastic paraplegia type 72
SPG72
gene_symbol: REEP2
disease_id: OMIM:615625
disease_name: SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE
gene_symbol: PLAAT3
disease_id: OMIM:620683
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9
gene_symbol: ALDH18A1
disease_id: OMIM:601162
disease_name: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT
gene_symbol: ALDH18A1
disease_id: ORPHA:447757
disease_name: Autosomal dominant spastic paraplegia type 9B
AD-SPG9B
gene_symbol: ALDH18A1
disease_id: ORPHA:447753
disease_name: Autosomal dominant spastic paraplegia type 9A
AD-SPG9A
Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome
Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome
gene_symbol: ALDH18A1
disease_id: ORPHA:447760
disease_name: Autosomal recessive spastic paraplegia type 9B
AR-SPG9B
gene_symbol: DSTYK
disease_id: ORPHA:101003
disease_name: Autosomal recessive spastic paraplegia type 23
Lison syndrome
SPG23
Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome
gene_symbol: CYP7B1
disease_id: OMIM:270800
disease_name: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
gene_symbol: WDR48
disease_id: ORPHA:401800
disease_name: Autosomal recessive spastic paraplegia type 60
SPG60
gene_symbol: POLR3B
disease_id: OMIM:619742
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I
gene_symbol: DDHD1
disease_id: ORPHA:101008
disease_name: Autosomal recessive spastic paraplegia type 28
SPG28
gene_symbol: RTN2
disease_id: OMIM:620854
disease_name: OMIM:620854
gene_symbol: RTN2
disease_id: OMIM:604805
disease_name: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT
gene_symbol: RTN2
disease_id: ORPHA:100993
disease_name: Autosomal dominant spastic paraplegia type 12
SPG12
gene_symbol: AP5Z1
disease_id: OMIM:613647
disease_name: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE
gene_symbol: AP5Z1
disease_id: ORPHA:306511
disease_name: Autosomal recessive spastic paraplegia type 48
SPG48
gene_symbol: TECPR2
disease_id: OMIM:615031
disease_name: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
gene_symbol: ARSI
disease_id: ORPHA:401815
disease_name: Autosomal recessive spastic paraplegia type 66
SPG66
gene_symbol: KIDINS220
disease_id: OMIM:617296
disease_name: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
gene_symbol: MFSD2A
disease_id: OMIM:616486
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN IMAGING ABNORMALITIES
gene_symbol: FUCA1
disease_id: OMIM:230000
disease_name: FUCOSIDOSIS
gene_symbol: WDR26
disease_id: OMIM:617616
disease_name: SKRABAN-DEARDORFF SYNDROME
gene_symbol: ERLIN1
disease_id: ORPHA:401785
disease_name: Autosomal recessive spastic paraplegia type 62
SPG62
gene_symbol: ERLIN1
disease_id: OMIM:615681
disease_name: SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE
gene_symbol: ZFYVE26
disease_id: OMIM:270700
disease_name: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE
gene_symbol: ATAD3A
disease_id: ORPHA:496790
disease_name: Ocular anomalies-axonal neuropathy-developmental delay syndrome
Harel-Yoon syndrome
gene_symbol: PGAP1
disease_id: ORPHA:401820
disease_name: Autosomal recessive spastic paraplegia type 67
SPG67
gene_symbol: NT5C2
disease_id: ORPHA:320396
disease_name: Autosomal recessive spastic paraplegia type 45
Autosomal recessive spastic paraplegia type 65
SPG45
SPG65
gene_symbol: NT5C2
disease_id: OMIM:613162
disease_name: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
gene_symbol: SHMT2
disease_id: OMIM:619121
disease_name: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES
gene_symbol: WLS
disease_id: OMIM:619648
disease_name: ZAKI SYNDROME
gene_symbol: SACS
disease_id: OMIM:270550
disease_name: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
gene_symbol: SPG11
disease_id: OMIM:604360
disease_name: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE
gene_symbol: USP8
disease_id: ORPHA:401795
disease_name: Autosomal recessive spastic paraplegia type 59
SPG59
gene_symbol: NSUN2
disease_id: OMIM:611091
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
gene_symbol: CACNA1G
disease_id: ORPHA:458803
disease_name: Spinocerebellar ataxia type 42
SCA42
gene_symbol: CACNA1G
disease_id: OMIM:616795
disease_name: SPINOCEREBELLAR ATAXIA 42
gene_symbol: KCNA4
disease_id: OMIM:618284
disease_name: MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM
gene_symbol: HSPD1
disease_id: OMIM:605280
disease_name: SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT
gene_symbol: HSPD1
disease_id: ORPHA:100994
disease_name: Autosomal dominant spastic paraplegia type 13
SPG13
gene_symbol: ARG1
disease_id: OMIM:207800
disease_name: ARGININEMIA
gene_symbol: VCP
disease_id: ORPHA:329475
disease_name: Spastic paraplegia-Paget disease of bone syndrome
gene_symbol: DDHD2
disease_id: ORPHA:320380
disease_name: Autosomal recessive spastic paraplegia type 54
SPG54
gene_symbol: SPAST
disease_id: OMIM:182601
disease_name: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT
gene_symbol: GBA2
disease_id: OMIM:614409
disease_name: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
gene_symbol: BSCL2
disease_id: OMIM:270685
disease_name: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT
gene_symbol: BSCL2
disease_id: ORPHA:100998
disease_name: Autosomal dominant spastic paraplegia type 17
SPG17
Silver syndrome
Spastic paraplegia-amyotrophy of hands and feet
gene_symbol: VAMP1
disease_id: ORPHA:251282
disease_name: Autosomal dominant spastic ataxia type 1
SPAX1
gene_symbol: ZFR
disease_id: ORPHA:401840
disease_name: Autosomal recessive spastic paraplegia type 71
SPG71
gene_symbol: UBAP1
disease_id: ORPHA:100993
disease_name: Autosomal dominant spastic paraplegia type 12
SPG12
gene_symbol: CPT1C
disease_id: ORPHA:444099
disease_name: Autosomal dominant spastic paraplegia type 73
SPG73
gene_symbol: KPNA3
disease_id: ORPHA:171612
disease_name: Autosomal dominant spastic paraplegia type 37
SPG37
gene_symbol: CYP2U1
disease_id: ORPHA:320411
disease_name: Autosomal recessive spastic paraplegia type 56
SPG56
gene_symbol: CCT5
disease_id: OMIM:256840
disease_name: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE
gene_symbol: SPTSSA
disease_id: OMIM:620416
disease_name: SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT
gene_symbol: B4GALNT1
disease_id: OMIM:609195
disease_name: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE
gene_symbol: CTCF
disease_id: OMIM:615502
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
gene_symbol: GJC2
disease_id: OMIM:613206
disease_name: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE
gene_symbol: KIF5A
disease_id: OMIM:604187
disease_name: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT
gene_symbol: LMNB1
disease_id: ORPHA:99027
disease_name: Adult-onset autosomal dominant leukodystrophy
ADLD
Adult-onset autosomal dominant demyelinating leukodystrophy
gene_symbol: AMPD2
disease_id: ORPHA:401805
disease_name: Autosomal recessive spastic paraplegia type 63
SPG63
gene_symbol: AMPD2
disease_id: OMIM:615686
disease_name: SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE
gene_symbol: ATP6AP2
disease_id: ORPHA:363654
disease_name: X-linked parkinsonism-spasticity syndrome
XPDS
gene_symbol: FBXO7
disease_id: OMIM:260300
disease_name: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET
gene_symbol: SLC39A14
disease_id: OMIM:617013
disease_name: HYPERMANGANESEMIA WITH DYSTONIA 2
gene_symbol: SLC39A14
disease_id: ORPHA:521406
disease_name: Dystonia-parkinsonism-hypermanganesemia syndrome
gene_symbol: ARL6IP1
disease_id: OMIM:615685
disease_name: SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE
gene_symbol: ARL6IP1
disease_id: ORPHA:401780
disease_name: Autosomal recessive spastic paraplegia type 61
SPG61
gene_symbol: RETREG1
disease_id: OMIM:613115
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB
gene_symbol: ERCC6
disease_id: OMIM:278800
disease_name: DE SANCTIS-CACCHIONE SYNDROME
gene_symbol: FARS2
disease_id: ORPHA:466722
disease_name: Autosomal recessive spastic paraplegia type 77
SPG77