Phenotype: Spastic paraparesis (HP:0002313)
Associated genes and diseases:
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: MTHFR
disease_id: ORPHA:395
disease_name: Homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR deficiency
Methylene tetrahydrofolate reductase deficiency
gene_symbol: POLR3GL
disease_id: OMIM:619234
disease_name: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY
gene_symbol: MTRFR
disease_id: ORPHA:254930
disease_name: Combined oxidative phosphorylation defect type 7
COXPD7
Severe C12ORF65-related COXPD
Severe C12ORF65-related combined oxidative phosphorylation defect
gene_symbol: MTRFR
disease_id: ORPHA:320375
disease_name: Autosomal recessive spastic paraplegia type 55
SPG55
gene_symbol: MAG
disease_id: OMIM:616680
disease_name: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
gene_symbol: ATP6AP2
disease_id: ORPHA:363654
disease_name: X-linked parkinsonism-spasticity syndrome
XPDS
gene_symbol: SLC30A10
disease_id: ORPHA:309854
disease_name: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
gene_symbol: SLC30A10
disease_id: OMIM:613280
disease_name: HYPERMANGANESEMIA WITH DYSTONIA 1
gene_symbol: CYP27A1
disease_id: ORPHA:909
disease_name: Cerebrotendinous xanthomatosis
CTX
Sterol 27-hydroxylase deficiency
gene_symbol: TTC19
disease_id: OMIM:615157
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: AIMP1
disease_id: OMIM:260600
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 3
gene_symbol: IDUA
disease_id: ORPHA:93474
disease_name: Scheie syndrome
MPS1S
MPSIS
Mucopolysaccharidosis type 1S
Mucopolysaccharidosis type IS
gene_symbol: IDUA
disease_id: ORPHA:93473
disease_name: Hurler syndrome
Hurler disease
MPS1H
MPSIH
Mucopolysaccharidosis type 1H
Mucopolysaccharidosis type IH
gene_symbol: GJC2
disease_id: OMIM:608804
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 2
gene_symbol: GALC
disease_id: ORPHA:206443
disease_name: Late-infantile/juvenile Krabbe disease
Krabbe disease, late-onset
gene_symbol: BCOR
disease_id: OMIM:300166
disease_name: MICROPHTHALMIA, SYNDROMIC 2
gene_symbol: GFAP
disease_id: ORPHA:363722
disease_name: Alexander disease type II
AxD type II
gene_symbol: CCDC88C
disease_id: OMIM:616053
disease_name: SPINOCEREBELLAR ATAXIA 40
gene_symbol: CCDC88C
disease_id: ORPHA:423275
disease_name: Spinocerebellar ataxia type 40
SCA40
gene_symbol: OPA3
disease_id: ORPHA:67047
disease_name: 3-methylglutaconic aciduria type 3
Autosomal recessive optic atrophy plus syndrome
Autosomal recessive optic atrophy type 3
Costeff optic atrophy syndrome
Costeff syndrome
Infantile optic atrophy with chorea and spastic paraplegia
MGA3
gene_symbol: MICOS13
disease_id: ORPHA:67047
disease_name: 3-methylglutaconic aciduria type 3
Autosomal recessive optic atrophy plus syndrome
Autosomal recessive optic atrophy type 3
Costeff optic atrophy syndrome
Costeff syndrome
Infantile optic atrophy with chorea and spastic paraplegia
MGA3
gene_symbol: COASY
disease_id: OMIM:615643
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
gene_symbol: COASY
disease_id: ORPHA:397725
disease_name: COASY protein-associated neurodegeneration
CoPAN
NBIA6
Neurodegeneration with brain iron accumulation due to COASY mutation
gene_symbol: PEX16
disease_id: OMIM:614877
disease_name: PEROXISOME BIOGENESIS DISORDER 8B
gene_symbol: HMBS
disease_id: OMIM:620711
disease_name: LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED
gene_symbol: EDNRB
disease_id: OMIM:277580
disease_name: WAARDENBURG SYNDROME, TYPE 4A
gene_symbol: WDR45
disease_id: ORPHA:329284
disease_name: Beta-propeller protein-associated neurodegeneration
BPAN
NBIA5
Neurodegeneration with brain iron accumulation type 5
SENDA
Static encephalopathy of childhood with neurodegeneration in adulthood
gene_symbol: WDR45
disease_id: OMIM:300894
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
gene_symbol: TRMT10A
disease_id: ORPHA:391408
disease_name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
gene_symbol: PPP1R15B
disease_id: ORPHA:391408
disease_name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
gene_symbol: SOX10
disease_id: OMIM:609136
disease_name: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
gene_symbol: PLP1
disease_id: ORPHA:280229
disease_name: Pelizaeus-Merzbacher disease in female carriers
gene_symbol: SLC25A15
disease_id: OMIM:238970
disease_name: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
gene_symbol: SPG21
disease_id: OMIM:248900
disease_name: MAST SYNDROME
gene_symbol: MTPAP
disease_id: OMIM:613672
disease_name: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE
gene_symbol: MTPAP
disease_id: ORPHA:254343
disease_name: Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Autosomal recessive spastic ataxia type 4
SPAX4
gene_symbol: SDHA
disease_id: ORPHA:3208
disease_name: Isolated succinate-CoQ reductase deficiency
Isolated mitochondrial respiratory chain complex II deficiency
Isolated succinate dehydrogenase deficiency
Isolated succinate-coenzyme Q reductase deficiency
Isolated succinate-ubiquinone reductase deficiency
gene_symbol: SDHB
disease_id: ORPHA:3208
disease_name: Isolated succinate-CoQ reductase deficiency
Isolated mitochondrial respiratory chain complex II deficiency
Isolated succinate dehydrogenase deficiency
Isolated succinate-coenzyme Q reductase deficiency
Isolated succinate-ubiquinone reductase deficiency
gene_symbol: SDHD
disease_id: ORPHA:3208
disease_name: Isolated succinate-CoQ reductase deficiency
Isolated mitochondrial respiratory chain complex II deficiency
Isolated succinate dehydrogenase deficiency
Isolated succinate-coenzyme Q reductase deficiency
Isolated succinate-ubiquinone reductase deficiency
gene_symbol: SDHAF1
disease_id: ORPHA:3208
disease_name: Isolated succinate-CoQ reductase deficiency
Isolated mitochondrial respiratory chain complex II deficiency
Isolated succinate dehydrogenase deficiency
Isolated succinate-coenzyme Q reductase deficiency
Isolated succinate-ubiquinone reductase deficiency
gene_symbol: AFG3L2
disease_id: OMIM:614487
disease_name: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE
gene_symbol: AFG3L2
disease_id: ORPHA:313772
disease_name: Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome
Autosomal recessive spastic ataxia type 5
SPAX5
gene_symbol: ARG1
disease_id: OMIM:207800
disease_name: ARGININEMIA
gene_symbol: GOT2
disease_id: OMIM:618721
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82
gene_symbol: FAR1
disease_id: OMIM:619338
disease_name: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY
gene_symbol: BTD
disease_id: ORPHA:79241
disease_name: Biotinidase deficiency
Juvenile-onset multiple carboxylase deficiency
Late-onset multiple carboxylase deficiency
gene_symbol: CHMP2B
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: HNRNPA1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: TAF15
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: PON2
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: VAPB
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: SQSTM1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: PRPH
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: TBK1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: GLT8D1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: CFAP410
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: PPARGC1A
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: SOD1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: OPTN
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: DCTN1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: FIG4
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: PON1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: PON3
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: NEFH
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: PFN1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: MATR3
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: TREM2
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: VCP
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: ANG
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: TARDBP
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: UBQLN2
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: GLE1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: FUS
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: NEK1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: ATXN2
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: DAO
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: ERBB4
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: ANXA11
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: UNC13A
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: CCNF
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: CHCHD10
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: POLG
disease_id: ORPHA:726
disease_name: Alpers-Huttenlocher syndrome
Alpers progressive sclerosing poliodystrophy
Alpers syndrome
Progressive neuronal degeneration of childhood with liver disease
gene_symbol: MED13L
disease_id: ORPHA:369891
disease_name: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
MED13L-related intellectual disability syndrome
gene_symbol: TTR
disease_id: OMIM:105210
disease_name: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
gene_symbol: GJA1
disease_id: ORPHA:2710
disease_name: Oculodentodigital dysplasia
Meyer-Schwickerath syndrome
Meyer-Schwickerath-Weyers syndrome
ODDD syndrome
ODOD syndrome
Oculo-dento-digital dysplasia
Oculodentodigital syndrome
Oculodentodigitalis dysplasia
Oculodentoosseous dysplasia
Osseous-oculo-dental dysplasia
gene_symbol: ALDH3A2
disease_id: OMIM:270200
disease_name: SJOGREN-LARSSON SYNDROME
gene_symbol: PNP
disease_id: ORPHA:760
disease_name: Purine nucleoside phosphorylase deficiency
PNP deficiency
PNPase deficiency
gene_symbol: PRUNE1
disease_id: ORPHA:544469
disease_name: PRUNE1-related neurological syndrome
gene_symbol: AP5Z1
disease_id: OMIM:613647
disease_name: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE
gene_symbol: RNASEH2A
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: RNASEH2C
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: SAMHD1
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: RNASEH2B
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: ADAR
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: TREX1
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: RNU7-1
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: LSM11
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: IFIH1
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: GBA1
disease_id: OMIM:231000
disease_name: GAUCHER DISEASE, TYPE III
gene_symbol: CPT1C
disease_id: ORPHA:444099
disease_name: Autosomal dominant spastic paraplegia type 73
SPG73
gene_symbol: SELENOI
disease_id: ORPHA:506353
disease_name: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
Autosomal recessive complex SPG due to Kennedy pathway dysfunction
Autosomal recessive spastic paraplegia type 81
gene_symbol: SPG7
disease_id: ORPHA:35689
disease_name: Primary lateral sclerosis
Adult-onset PLS
Adult-onset primary lateral sclerosis
PLS
gene_symbol: FA2H
disease_id: ORPHA:329308
disease_name: Fatty acid hydroxylase-associated neurodegeneration
FAHN
gene_symbol: ABCD1
disease_id: ORPHA:139399
disease_name: Adrenomyeloneuropathy
gene_symbol: TBCE
disease_id: ORPHA:496756
disease_name: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome