Disease Browser
Parent Node: Cataract (D002386) Parent Node: Growth Disorders (D006130) Parent Node: Spastic Paraplegia, Hereditary (D015419) ..Starting node .. Spastic paraplegia 9, autosomal dominant (C536868) Child Nodes:
Sister Nodes: ..Amyotrophic Dystonic Paraplegia (C566292) ..Arena syndrome (C537428) ..Ataxia, Spastic, 1, Autosomal Dominant (C566993) ..Ataxia, Spastic, 2, Autosomal Recessive (C566969) ..Ataxia, Spastic, 3, Autosomal Recessive (C566956) ..Bahemuka Brown syndrome (C537797) ..Costeff optic atrophy syndrome (C535311) ..Fitzsimmons Walson Mellor syndrome (C537937) ..Fitzsimmons-Guilbert syndrome (C537938) ..Fitzsimmons-McLachlan-Gilbert syndrome (C537058) ..Hereditary spastic paralysis, infantile onset ascending (C537217) ..Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia (C567311) ..Limb Defects, Distal Transverse, with Mental Retardation and Spasticity (C565438) ..MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome (C536029) ..MAST Syndrome (C565409) ..Mental retardation spasticity ectrodactyly (C537446) ..Nakamura Osame syndrome (C538335) ..Roy Maroteaux Kremp syndrome (C535875) ..Spastic diplegia infantile type (C537481) ..Spastic paraplegia 10, autosomal dominant (C537482) ..Spastic paraplegia 11, autosomal recessive (C537483) ..Spastic paraplegia 12, autosomal dominant (C537484) ..Spastic paraplegia 13, autosomal dominant (C537485) ..Spastic paraplegia 14, autosomal recessive (C537486) ..Spastic paraplegia 15, autosomal recessive (C536642) ..Spastic paraplegia 16, X-linked (C536643) ..Spastic paraplegia 17 (C536644) ..Spastic Paraplegia 18, Autosomal Recessive (C567628) ..Spastic paraplegia 19, autosomal dominant (C536856) ..Spastic paraplegia 2, X-linked (C536857) ..Spastic paraplegia 20, autosomal recessive (C536858) ..Spastic paraplegia 23 (C536859) ..Spastic paraplegia 24 (C536860) ..Spastic paraplegia 25, autosomal recessive (C536861) ..Spastic paraplegia 26, autosomal recessive (C536862) ..Spastic Paraplegia 27, Autosomal Recessive (C563807) ..Spastic paraplegia 29, autosomal dominant (C536863) ..Spastic paraplegia 3, autosomal dominant (C536864) ..Spastic Paraplegia 31, Autosomal Dominant (C565210) ..Spastic Paraplegia 32, Autosomal Recessive (C566983) ..Spastic Paraplegia 33, Autosomal Dominant (C565214) ..Spastic Paraplegia 34, X-Linked (C567465) ..SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319) ..Spastic Paraplegia 36, Autosomal Dominant (C567930) ..Spastic Paraplegia 37, Autosomal Dominant (C567931) ..Spastic Paraplegia 38, Autosomal Dominant (C567349) ..Spastic Paraplegia 39, Autosomal Recessive (C567433) ..Spastic paraplegia 4, autosomal dominant (C536865) ..SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT (OMIM:613364) ..Spastic Paraplegia 42, Autosomal Dominant (C567262) ..Spastic Paraplegia 44, Autosomal Recessive (C567707) ..SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162) ..SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647) ..SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031) ..Spastic Paraplegia 5a, Autosomal Recessive (C564811) ..Spastic paraplegia 6, autosomal dominant (C536866) ..Spastic Paraplegia 7, Autosomal Recessive (C564599) ..Spastic paraplegia 8, autosomal dominant (C536867) ..Spastic paraplegia 9, autosomal dominant (C536868) ..Spastic Paraplegia And Evans Syndrome (C566652) ..Spastic paraplegia epilepsy mental retardation (C536869) ..Spastic paraplegia neuropathy poikiloderma (C536870) ..Spastic Paraplegia Type 11 (C580453) ..Spastic Paraplegia Type 3a (C580455) ..Spastic Paraplegia Type 4 (C580456) ..Spastic paraplegia type 5A, recessive (C536871) ..Spastic paraplegia type 5B, recessive (C536872) ..Spastic Paraplegia Type 7 (C580457) ..Spastic Paraplegia Type 8 (C580458) ..Spastic Paraplegia With Associated Extrapyramidal Signs (C566681) ..Spastic paraplegia with Kallmann syndrome (C536873) ..Spastic Paraplegia With Myoclonic Epilepsy (C564810) ..Spastic paraplegia with precocious puberty (C536874) ..Spastic Paraplegia, Optic Atrophy, And Dementia (C566679) ..Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409) ..Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy (C566682) ..Spastic Paraplegia-50, Autosomal Recessive (C567858) ..Volcke Soekarman syndrome (C537718) Human Disease MESH is developed by UMLS . Further data from MedGen , OMIM , CTD
Term ID: 10401
Name: Spastic paraplegia 9, autosomal dominant
Definition:
Alternative IDs: OMIM:601162
ParentIDs: MESH:D002386|MESH:D006130|MESH:D015419
TreeNumbers: C10.500.300.820/C536868 |C10.574.500.495.820/C536868 |C10.668.829.800.300.820/C536868 |C11.510.245/C536868 |C16.131.666.300.820/C536868 |C16.320.400.375.820/C536868 |C23.550.393/C536868
Synonyms: Autosomal dominant spastic paraparesis |Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy |Cataracts, motor neuronopathy, short stature and skeletal abnormalities |Cataracts With Motor Neuronopathy, Short Stature, And Ske
Slim Mappings: Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease|Pathology (process)
Reference:
MedGen: C536868
MeSH: C536868
OMIM: 601162 ; Genes: SPG9 ; Phenotypes Disease Causing ClinVar Variants Variation_Name GeneID GeneSymbol ClinicalSignificance dbSNP RCVaccession TestedInGTR PhenotypeIDs Chromosome Start Stop HGVS_c HGVS_p HGVS_g OtherIDs Disease_ClinVar Disease_hgmd NM_002860.3(ALDH18A1):c.1994G>T (p.Arg665Leu) 5832 ALDH18A1 Pathogenic 766264810 RCV000200958 ; N Gene:9193,MedGen:C1832669,OMIM:601162,ORPHA:100990 10 97371129 97371129 NM_002860.3:c.1994G>T NP_002851.2:p.Arg665Leu NC_000010.10:g.97371129C>A OMIM Allelic Variant:138250.0009 C1832669 601162 Spastic paraplegia 9 NM_002860.3(ALDH18A1):c.755G>A (p.Arg252Gln) 5832 ALDH18A1 Pathogenic 864321670 RCV000200959 ; N Gene:9193,MedGen:C1832669,OMIM:601162,ORPHA:100990 10 97392769 97392769 NM_002860.3:c.755G>A NP_002851.2:p.Arg252Gln NC_000010.10:g.97392769C>T OMIM Allelic Variant:138250.0007 C1832669 601162 Spastic paraplegia 9 NM_002860.3(ALDH18A1):c.727G>C (p.Val243Leu) 5832 ALDH18A1 Pathogenic 864321669 RCV000200956 ; N Gene:9193,MedGen:C1832669,OMIM:601162,ORPHA:100990 10 97392797 97392797 NM_002860.3:c.727G>C NP_002851.2:p.Val243Leu NC_000010.10:g.97392797C>G OMIM Allelic Variant:138250.0006 C1832669 601162 Spastic paraplegia 9 NM_002860.3(ALDH18A1):c.359T>C (p.Val120Ala) 5832 ALDH18A1 Pathogenic 863224945 RCV000200954 ; N Gene:9193,MedGen:C1832669,OMIM:601162,ORPHA:100990 10 97397138 97397138 NM_002860.3:c.359T>C NP_002851.2:p.Val120Ala NC_000010.10:g.97397138A>G OMIM Allelic Variant:138250.0008 C1832669 601162 Spastic paraplegia 9