Disease phenotype | Item in this table | Key references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
Spastic paraplegia 3A, autosomal dominant (Stumpell disease) - (AD) | 15.1 | | | | * Neuropathy, hereditary sensory, type ID - HSN1D | | * Spastic paraplegia 3, autosomal dominant (Strumpell disease) - SP3A |
|
Spastic paraplegia 4, autosomal dominant - (AD) | 15.2 | | | | * Familial spastic paraplegia, autosomal dominant, 2 - FSP2 | | * Spastic paraplegia 4 - SPG4 |
|
Spastic paraplegia 6, autosomal dominant - (AD) | 15.3 | | | Non imprinted gene in Prader-Willi/Angelman syndrome chromosome region 1
|
|
| | * Spastic paraplegia 6 uncomplicated,autosomal dominant,Strumpell-Lorrain type - SPG6 |
|
Spastic paraplegia 8, autosomal dominant - (AD) | 15.4 | | | | * Spastic paraplegia 8 - SPG8 |
|
Spastic paraplegia 9A, autosomal dominant - (AD) | 15.5 | | | Aldehyde deydrogenase 18 family, member A1 (M)
|
|
| | * Spastic paraplegia 9 - SPG9A | | * Spastic paraplegia 9A, autosomal recessive - SPG9B |
|
Spastic paraplegia 10, autosomal dominant - (AD) | 15.6 | | | | * Spastic paraplegia 10 - SPG10 | | * CMT2 related to KIF5A | | * Amyotrophic lateral sclerosis 25, susceptibility to - ALS25 |
|
Spastic paraplegia 12, autosomal dominant - (AD) | 15.7 | | | | * Spastic paraplegia 12 - SPG12 |
|
Spastic paraplegia 13, autosomal dominant - (AD) | 15.8 | | | Heat shock 60kDa protein 1 (chaperonin)(M)
|
|
| | * Spastic paraplegia 13 - SPG13 |
|
Spastic paraplegia 17, autosomal dominant (Silver) - (AD) | 15.9 | | | | * Spastic paraplegia 17 - SPG17 | | * Neuronopathy, distal hereditary motor, autosomal dominant 13 - HMND13 |
|
Spastic paraplegia 18A7, autosomal dominant - (AD) | 15.10 | | | ER lipid raft associated 2
|
|
| | * Spastic paraplegia 18 - SPG18 | | * Spastic paraplegia 18A7, autosomal dominant - SPG18A |
|
Spastic paraplegia 19, autosomal dominant - (AD) | 15.11 | | | | * Spastic paraplegia 19 - SPG19 |
|
Spastic paraplegia 29, autosomal dominant - (AD) | 15.12 | | | | * Spastic paraplegia 29 - SPG29 |
|
Spastic paraplegia 30, autosomal dominant - (AD) | 15.13 | | | | * Neuropathy, hereditary sensory, type IIC - HSN2C | | * Spastic paraplegia 30 - SPG30 |
|
Spastic paraplegia 31, autosomal dominant - (AD) | 15.14 | | | Receptor accessory protein 1(M)
|
|
| | * Neuropathy, distal hereditary motor, autosomal recessive 6 - HMNR6 | | * Distal spinal muscular atrophy, type VB - DSMAVB | | * Spastic paraplegia 31 - SPG31 | | * Neuronopathy, distal hereditary motor, autosomal dominant 12 - HMND12 |
|
Spastic paraplegia 33, autosomal dominant - (AD) | 15.15 | | | Zinc finger, FYVE domain containing 27
|
|
| | * Spastic paraplegia 33 - SPG33 |
|
Spastic paraplegia 36, autosomal dominant - (AD) | 15.16 | | | | * Spastic paraplegia 36, autosomal dominant - SPG36 |
|
Spastic paraplegia 37, autosomal dominant - (AD) | 15.17 | | | | * Spastic paraplegia 37, autosomal dominant - SPG37 |
|
Spastic paraplegia 38, autosomal dominant - (AD) | 15.18 | | | | * Spastic paraplegia 38, autosomal dominant - SPG38 |
|
Spastic paraplegia 41, autosomal dominant - (AD) | 15.19 | | | | * Spastic paraplegia 41, autosomal dominant - SPG41 |
|
Spastic paraplegia 42, autosomal dominant - (AD) | 15.20 | | | Solute carrier family 33 (acetyl- CoA transporter)
|
|
| | * Spastic paraplegia 42, autosomal dominant - SPG42 |
|
Spastic paraplegia 72, autosomal dominant - (AD) | 15.21 | | | Receptor expression-enhancing proten 2
|
|
| | * Spastic paraplegia 72, autosomal recessive - SPG72 | | * Spastic paraplegia 72, autosomal dominant - SPG72 |
|
Spastic paraplegia 73, autosomal dominant - (AD) | 15.22 | | | Carnitine Palmitoyltransferase 1C(M)
|
|
| | * Spastic paraplegia 73, autosomal dominant - SPG73 |
|
Spastic paraplegia 79, autosomal dominant - (AD) | 15.23 | | | Ubiquitin Carboxyl-Terminal Esterase L1
|
|
| | * Spastic paraplegia 79, autosomal recessive - SPG79 | | * Spastic paraplegia 79, autosomal dominant - SPG79A |
|
Spastic paraplegia 80, autosomal dominant - (AD) | 15.24 | | | Ubiquitin-associated protein 1
|
|
| | * Spastic paraplegia 80, autosomal dominant - SPG80 |
|
Spastic paraplegia 88, autosomal dominant - (AD) | 15.25 | | | | * Spastic paraplegia 88, autosomal dominant - SPG88 |
|
Spastic paraplegia, intellectual disability, nystagmus, and obesity - (AD) | 15.26 | | | kinase D-interacting substrate, 220kDa
|
|
| | * Spastic paraplegia, intellectual disability, nystagmus, and obesity - SINO |
|
Disease phenotype | Item in this table | Key references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
Spastic paraplegia 5A, autosomal recessive - (AR) | 15.27 | | | Cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
| | * Spastic paraplegia 5A - SPG5A |
|
Spastic paraplegia 7, autosomal recessive - (AR) | 15.28 | | | | * Spastic paraplegia 7 - SPG7 |
|
Spastic paraplegia 9B, autosomal recessive - (AR) | 15.29 | | | Aldehyde deydrogenase 18 family, member A1 (M)
|
|
| | * Spastic paraplegia 9 - SPG9A | | * Spastic paraplegia 9A, autosomal recessive - SPG9B |
|
Spastic paraplegia 11, autosomal recessive - (AR) | 15.30 | | | SPG11 vesicle trafficking associated, Spatacsin
|
|
| | * Spastic paraplegia 11 - SPG11 | | * Charcot-Marie-Tooth neuropathy Type 2X - CMT2X | | * Amyotrophic lateral sclerosis 5 - ALS5 |
|
Spastic paraplegia 14, autosomal recessive - (AR) | 15.31 | | | | * Spastic paraplegia 14 - SPG14 |
|
Spastic paraplegia 15, autosomal recessive (Kjellin syndrome) - (AR) | 15.32 | | | | * Spastic paraplegia 15 - SPG15 |
|
Spastic paraplegia 18, autosomal recessive - (AR) | 15.33 | | | ER lipid raft associated 2
|
|
| | * Spastic paraplegia 18 - SPG18 | | * Spastic paraplegia 18A7, autosomal dominant - SPG18A |
|
Spastic paraplegia 20, autosomal recessive (Troyer syndrome) - (AR) | 15.34 | | | | * Spastic paraplegia 20 - SPG20 |
|
Spastic paraplegia 21, autosomal recessive (Mast syndrome) - (AR) | 15.35 | | | | * Spastic paraplegia 20 - SPG21 |
|
Spastic paraplegia 23, autosomal recessive (Lison) - (AR) | 15.36 | | | | * Spastic paraplegia 23 - SPG23 |
|
Spastic paraplegia 24, autosomal recessive - (AR) | 15.37 | | | | * Spastic paraplegia 24 - SPG24 |
|
Spastic paraplegia 25, autosomal recessive - (AR) | 15.38 | | | | * Spastic paraplegia 25 - SPG25 |
|
Spastic paraplegia 26, autosomal recessive - (AR) | 15.39 | | | Beta-1,4-N-acetyl-galactosaminyl transferase 1
|
|
| | * Spastic paraplegia 26 - SPG26 | | * Charcot-Marie-Tooth disease, axonal |
|
Spastic paraplegia 27, autosomal recessive - (AR) | 15.40 | | | | * Spastic paraplegia 27 - SPG27 |
|
Spastic paraplegia 28, autosomal recessive - (AR) | 15.41 | | | | * Spastic paraplegia 20 - SPG28 |
|
Spastic paraplegia 30, autosomal recessive - (AR) | 15.42 | | | | * Neuropathy, hereditary sensory, type IIC - HSN2C | | * Spastic paraplegia 30 - SPG30 |
|
Spastic paraplegia 32, autosomal recessive - (AR) | 15.43 | | | | * spastic paraplegia 32, autosomal recessive - SPG32 |
|
Spastic paraplegia 35, autosomal recessive - (AR) | 15.44 | | | | * Spastic paraplegia 35, autosomal recessive - SPG35 | | * Dysmyelinating leukodystrophy - FAHN |
|
Spastic paraplegia 39, autosomal recessive - (AR) | 15.45 | | | Patatin-like phospholipase domain containing 6
|
|
| | * Spastic paraplegia 39, autosomal recessive - SPG39 |
|
Spastic paraplegia 43, autosomal recessive - (AR) | 15.46 | | | Chromosome 19 open reading frame 12(M)
|
|
| | * Spastic paraplegia 43, autosomal recessive - SPG43 | | * Neurodegeneration with brain iron accumulation 4 - NBIA4 |
|
Spastic paraplegia 44, autosomal recessive - (AR) | 15.47 | | | gap junction protein, gamma 2, 47kDa
|
|
| | * Spastic paraplegia 44, autosomal recessive - SPG44 |
|
Spastic paraplegia 45, autosomal recessive - (AR) | 15.48 | | | 5'-nucleotidase, cytosolic II
|
|
| | * Spastic paraplegia 45, autosomal recessive - SPG45 |
|
Spastic paraplegia 46, autosomal recessive - (AR) | 15.49 | | | Glucosidase, beta (bile acid) 2
|
|
| | * Spastic paraplegia 46, autosomal recessive - SPG46 |
|
Spastic paraplegia 47, autosomal recessive - (AR) | 15.50 | | | adaptor-related protein complex 4, beta 1 subunit
|
|
| | * Spastic paraplegia 47, autosomal recessive - SPG47 |
|
Spastic paraplegia 48, autosomal recessive - (AR) | 15.51 | | | Hypothetical protein LOC9907 ?
|
|
| | * Spastic paraplegia 48, autosomal recessive - SPG48 |
|
Spastic paraplegia 49, autosomal recessive - (AR) | 15.52 | | | Tectonin beta-propeller repeat containing 2
|
|
| | * Spastic paraplegia 49, autosomal recessive - SPG49 |
|
Spastic paraplegia 50, autosomal recessive - (AR) | 15.53 | | | Adaptor-related protein complex 4, mu 1 subunit
|
|
| | * Spastic paraplegia 50, autosomal recessive - SPG50 |
|
Spastic paraplegia 51, autosomal recessive - (AR) | 15.54 | | | Adaptor-related protein complex 4, epsilon-1 subunit
|
|
| | * Spastic paraplegia 51, autosomal recessive - SPG51 |
|
Spastic paraplegia 52, autosomal recessive - (AR) | 15.55 | | | Adaptor-related protein complex 4, sigma 1 subunit
|
|
| | * Spastic paraplegia 52, autosomal recessive - SPG52 |
|
Spastic paraplegia 53, autosomal recessive - (AR) | 15.56 | | | Vacuolar protein sorting-associated protein 37A
|
|
| | * Spastic paraplegia 53, autosomal recessive - SPG53 |
|
Spastic paraplegia 54, autosomal recessive - (AR) | 15.57 | | | DDHD domain containing protein 2
|
|
| | * Spastic paraplegia 54, autosomal recessive - SPG54 |
|
Spastic paraplegia 55, autosomal recessive - (AR) | 15.58 | | | Chomosome 12 open reading frame 65(M)
|
|
| | * Spastic paraplegia 55, autosomal recessive - SPG55 |
|
Spastic paraplegia 56, autosomal recessive - (AR) | 15.59 | | | Cytochrome P450, family 2, subfamily U, polypeptide 1
|
|
| | * Spastic paraplegia 56, autosomal recessive - SPG56 |
|
Spastic paraplegia 57, autosomal recessive - (AR) | 15.60 | | | | * Hereditary motor and sensory, neuropathy, proximal, type - HMSNP | | * Neuropathy, hereditary motor and sensory, Okinawa type - HMSNO | | * Spastic paraplegia 57, autosomal recessive - SPG57 |
|
Spastic paraplegia 61, autosomal recessive - (AR) | 15.61 | - | | ADP-ribosylation factor-like 6 interacting protein 1
|
|
| | * Spastic paraplegia 61, autosomal recessive - SPG61 |
|
Spastic paraplegia 62 autosomal recessive - (AR) | 15.62 | | | Endoplasmic reticulum lipid raft-associated protein 1 (Erlin-1)
|
|
| | * Spastic paraplegia 62 autosomal recessive - SPG62 |
|
Spastic paraplegia 63, autosomal recessive - (AR) | 15.63 | | | Adenosine monophosphate deaminase 2
|
|
| | * Spastic paraplegia 63, autosomal recessive - SPG63 |
|
Spastic paraplegia 64, autosomal recessive - (AR) | 15.64 | | | Ectonucleoside triphosphate diphosphohydrolase 1
|
|
| | * Spastic paraplegia 64, autosomal recessive - SPG64 |
|
Spastic paraplegia 70, autosomal recessive - (AR) | 15.65 | | | Methionyl-tRNA synthetase
|
|
| | * Charcot-Marie-Tooth neuropathy Type 2U - CMT2U | | * Spastic paraplegia 70, autosomal recessive - SPG70 |
|
Spastic paraplegia 72, autosomal recessive - (AR) | 15.66 | | | Receptor expression-enhancing proten 2
|
|
| | * Spastic paraplegia 72, autosomal recessive - SPG72 | | * Spastic paraplegia 72, autosomal dominant - SPG72 |
|
Spastic paraplegia 74, autosomal recessive - (AR) | 15.67 | | | IBA57 homolog, iron-sulfur cluster assembly (M)
|
|
| | * Spastic paraplegia 74, autosomal recessive - SPG74 |
|
Spastic paraplegia 75, autosomal recessive - (AR) | 15.68 | | | Myelin associated glycoprotein
|
|
| | * Spastic paraplegia 75, autosomal recessive - SPG75 |
|
Spastic paraplegia 76, autosomal recessive - (AR) | 15.69 | | | | * Spastic paraplegia 76, autosomal recessive - SPG76 | | * Spinal Muscular Atrophy type IV related to CAPN1 |
|
Spastic paraplegia 77, autosomal recessive - (AR) | 15.70 | | | Phenylalanine-tRNA synthetase 2(M)
|
|
| | * Spastic paraplegia 77, autosomal recessive - SPG77 |
|
Spastic paraplegia 78, autosomal recessive - (AR) | 15.71 | | | | * Spastic paraplegia 78, autosomal recessive - SPG78 |
|
Spastic paraplegia 79, autosomal recessive - (AR) | 15.72 | | | Ubiquitin Carboxyl-Terminal Esterase L1
|
|
| | * Spastic paraplegia 79, autosomal recessive - SPG79 | | * Spastic paraplegia 79, autosomal dominant - SPG79A |
|
Spastic paraplegia 81, autosomal recessive - (AR) | 15.73 | | | | * Spastic paraplegia 81, autosomal recessive - SPG81 |
|
Spastic paraplegia 82, autosomal recessive - (AR) | 15.74 | | | Phosphate cytidylyltransferase 2, ethanolamine
|
|
| | * Spastic paraplegia 82, autosomal recessive - SPG82 |
|
Spastic paraplegia 83, autosomal recessive - (AR) | 15.75 | | | 4-hydroxyphenylpyruvate dioxygenase-like
|
|
| | * Spastic paraplegia 83, autosomal recessive - SPG83 |
|
Spastic paraplegia 84, autosomal recessive - (AR) | 15.76 | | | Phosphatidylinositol 4-kinase, alpha
|
|
| | * Spastic paraplegia 84, autosomal recessive - SPG84 |
|
Spastic paraplegia 85, autosomal recessive - (AR) | 15.77 | | | | * Spastic paraplegia 85, autosomal recessive - SPG85 |
|
Spastic paraplegia 86, autosomal recessive - (AR) | 15.78 | | | Abhydrolase domain-containing protein 16a, phospholipase
|
|
| | * Spastic paraplegia 86, autosomal recessive - SPG86 |
|
Spastic paraplegia 87, autosomal recessive - (AR) | 15.79 | | | Transmembrane protein 63c
|
|
| | * Spastic paraplegia 87, autosomal recessive - SPG87 |
|
Sjögren-Larsson syndrome - (AR) | 15.80 | | | Aldehyde dehydrogenase 3A2
|
|
| | * Aldehyde dehydrogenase, family 3, subfamily A, member 2 - ALDH3A2 | | * Fatty aldehyde dehydrogenase - FALDH | | * Sjogren-Larsson syndrome - SLS |
|
Infantile-onset ascending spastic paraplegia - (AR) | 15.81 | | | Alsin Rho guanine nucleotide exchange factor 2
|
|
| | * Spastic paralysis, infantile onset ascending - IAHSP | | * Amyotrophic lateral sclerosis, juvenile - ALS2 | | * Primary lateral sclerosis, juvenile - PLSJ |
|
Spastic paraplegia, optic atrophy, and neuropathy - (AR) | 15.82 | | | | * Spastic paraplegia, optic atrophy, and neuropathy - SPOAN |
|
Spastic paraplegia and psychomotor retardation with or without seizures - (AR) | 15.83 | | | Hect domain- and Ankyrin repeat- contaiing E3 Ubiquitin protein ligase 1
|
|
| | * Spastic paraplegia and psychomotor retardation with or without seizures - SPPRS |
|