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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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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

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001317	Abnormal cerebellum morphology	HP:0040283
3	HP:0002127	Abnormal upper motor neuron morphology
4	HP:0002644	Abnormality of pelvic girdle bone morphology
5	HP:0003487	Babinski sign
6	HP:0001498	Carpal bone hypoplasia
7	HP:0000518	Cataract
8	HP:0002750	Delayed skeletal maturation
9	HP:0001260	Dysarthria
10	HP:0007299	Dysfunction of lateral corticospinal tracts
11	HP:0001288	Gait disturbance
12	HP:0002020	Gastroesophageal reflux
13	HP:0003700	Generalized amyotrophy
14	HP:0003743	Genetic anticipation
15	HP:0002036	Hiatus hernia
16	HP:0001347	Hyperreflexia
17	HP:0002495	Impaired vibratory sensation	HP:0040283
18	HP:0007340	Lower limb muscle weakness
19	HP:0002061	Lower limb spasticity
20	HP:0007178	Motor polyneuropathy
21	HP:0000639	Nystagmus	HP:0040283
22	HP:0001761	Pes cavus
23	HP:0004322	Short stature
24	HP:0003677	Slowly progressive
25	HP:0001258	Spastic paraplegia
26	HP:0001328	Specific learning disability
27	HP:0000020	Urinary incontinence	HP:0040283
28	HP:0000012	Urinary urgency	HP:0040283
29	HP:0002013	Vomiting

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
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