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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: Spastic Paraplegia, Hereditary (D015419)
..Starting node ..Hereditary spastic paralysis, infantile onset ascending (C537217)
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:

5122

Name:

Hereditary spastic paralysis, infantile onset ascending

Definition:

Alternative IDs:

OMIM:607225

ParentIDs:

MESH:D015419

TreeNumbers:

C10.500.300.820/C537217 |C10.574.500.495.820/C537217 |C10.668.829.800.300.820/C537217 |C16.131.666.300.820/C537217 |C16.320.400.375.820/C537217

Synonyms:

Iahsp |Infantile-Onset Ascending Hereditary Spastic Paralysis |Spastic Paralysis, Infantile Onset Ascending |Spastic Paralysis, Infantile-Onset Ascending

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C537217
MeSH: C537217
OMIM: 607225;

Genes: ALS2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0002366	Abnormal lower motor neuron morphology
4	HP:0000478	Abnormality of the eye
5	HP:0001771	Achilles tendon contracture
6	HP:0002425	Anarthria
7	HP:0003487	Babinski sign
8	HP:0001260	Dysarthria
9	HP:0001347	Hyperreflexia
10	HP:0005216	Impaired mastication
11	HP:0002492	Morphological abnormality of the corticospinal tract
12	HP:0001270	Motor delay
13	HP:0001324	Muscle weakness
14	HP:0001761	Pes cavus
15	HP:0003676	Progressive
16	HP:0002650	Scoliosis
17	HP:0000514	Slow saccadic eye movements
18	HP:0003677	Slowly progressive
19	HP:0001258	Spastic paraplegia
20	HP:0002510	Spastic tetraplegia
21	HP:0002445	Tetraplegia
22	HP:0000020	Urinary incontinence

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_020919.3(ALS2):c.4721delT (p.Val1574Alafs)	57679	ALS2	Pathogenic	386134188	RCV000004662;	N	MedGen:C1846588,OMIM:607225	2	202569294	202569294	NM_020919.3:c.4721delT	NP_065970.2:p.Val1574Alafs	NC_000002.11:g.202569294delA	OMIM Allelic Variant:606352.0009	C1846588 607225 Infantile-onset ascending hereditary spastic paralysis
NM_020919.3(ALS2):c.4261C>T (p.Arg1421Ter)	57679	ALS2	Pathogenic	863225293	RCV000201952;	N	MedGen:C1846588,OMIM:607225	2	202574623	202574623	NM_020919.3:c.4261C>T	NP_065970.2:p.Arg1421Ter	NC_000002.11:g.202574623G>A	-	C1846588 607225 Infantile-onset ascending hereditary spastic paralysis
NM_020919.3(ALS2):c.3619delA (p.Met1207Terfs)	57679	ALS2	Pathogenic	386134187	RCV000004658;	N	MedGen:C1846588,OMIM:607225	2	202588058	202588058	NM_020919.3:c.3619delA	NP_065970.2:p.Met1207Terfs	NC_000002.11:g.202588058delT	OMIM Allelic Variant:606352.0005	C1846588 607225 Infantile-onset ascending hereditary spastic paralysis
NM_020919.3(ALS2):c.3529G>T (p.Gly1177Ter)	57679	ALS2	Pathogenic	386134180	RCV000034965;	N	MedGen:C1846588,OMIM:607225	2	202588148	202588148	NM_020919.3:c.3529G>T	NP_065970.2:p.Gly1177Ter	NC_000002.11:g.202588148C>A	-	C1846588 607225 Infantile-onset ascending hereditary spastic paralysis
NM_020919.3(ALS2):c.3517G>A (p.Glu1173Lys)	57679	ALS2	Benign	41309046	RCV000206059;	N	MedGen:C1846588,OMIM:607225	2	202588160	202588160	NM_020919.3:c.3517G>A	NP_065970.2:p.Glu1173Lys	NC_000002.11:g.202588160C>T	-	C1846588 607225 Infantile-onset ascending hereditary spastic paralysis
NM_020919.3(ALS2):c.2992C>T (p.Arg998Ter)	57679	ALS2	Pathogenic	121908137	RCV000004663;	N	MedGen:C1846588,OMIM:607225	2	202591577	202591577	NM_020919.3:c.2992C>T	NP_065970.2:p.Arg998Ter	NC_000002.11:g.202591577G>A	OMIM Allelic Variant:606352.0010	C1846588 607225 Infantile-onset ascending hereditary spastic paralysis
NM_020919.3(ALS2):c.2761C>T (p.Arg921Ter)	57679	ALS2	Likely pathogenic;Pathogenic	587777132	RCV000087053; RCV000171328;	N	MedGen:C1846588,OMIM:607225; MedGen:CN221809	2	202593315	202593315	NM_020919.3:c.2761C>T	NP_065970.2:p.Arg921Ter	2:g.202593315G>A	OMIM Allelic Variant:606352.0015	C1846588 607225 Infantile-onset ascending hereditary spastic paralysis; CN221809 not provided
NM_020919.3(ALS2):c.2537_2538delAT (p.Asn846Ilefs)	57679	ALS2	Pathogenic	386134183	RCV000004660;	N	MedGen:C1846588,OMIM:607225	2	202598041	202598042	NM_020919.3:c.2537_2538delAT	NP_065970.2:p.Asn846Ilefs	NC_000002.11:g.202598041_202598042delAT	OMIM Allelic Variant:606352.0007	C1846588 607225 Infantile-onset ascending hereditary spastic paralysis
NM_020919.3(ALS2):c.2143C>T (p.Gln715Ter)	57679	ALS2	Pathogenic	121908139	RCV000004667;	N	MedGen:C1846588,OMIM:607225	2	202609008	202609008	NM_020919.3:c.2143C>T	NP_065970.2:p.Gln715Ter	NC_000002.11:g.202609008G>A	OMIM Allelic Variant:606352.0014	C1846588 607225 Infantile-onset ascending hereditary spastic paralysis
NM_020919.3(ALS2):c.1999-2A>T	57679	ALS2	Pathogenic	386134182	RCV000034887;	N	MedGen:C1846588,OMIM:607225	2	202609154	202609154	NM_020919.3:c.1999-2A>T		NC_000002.11:g.202609154T>A	-	C1846588 607225 Infantile-onset ascending hereditary spastic paralysis
NM_020919.3(ALS2):c.1911C>A (p.Tyr637Ter)	57679	ALS2	Pathogenic	863225294	RCV000201952;	N	MedGen:C1846588,OMIM:607225	2	202611376	202611376	NM_020919.3:c.1911C>A	NP_065970.2:p.Tyr637Ter	NC_000002.11:g.202574623G>A	-	C1846588 607225 Infantile-onset ascending hereditary spastic paralysis
NM_020919.3(ALS2):c.1821_1825dupCAGTG (p.Glu609Alafs)	57679	ALS2	Pathogenic	386134179	RCV000034965;	N	MedGen:C1846588,OMIM:607225	2	202611462	202611466	NM_020919.3:c.1821_1825dupCAGTG	NP_065970.2:p.Glu609Alafs	NC_000002.11:g.202588148C>A	-	C1846588 607225 Infantile-onset ascending hereditary spastic paralysis
NM_020919.3(ALS2):c.1472_1481delTTTCCCCCAG	57679	ALS2	Pathogenic	387906316	RCV000004659;	N	MedGen:C1846588,OMIM:607225	2	202619395	202619395	NM_020919.3:c.1472_1481delTTTCCCCCAG	NP_065970.2:p.Val491Glyfs	NC_000002.11:g.202619395C>A	OMIM Allelic Variant:606352.0006	C1846588 607225 Infantile-onset ascending hereditary spastic paralysis
NM_020919.3(ALS2):c.1007_1008delTA (p.Ile336Thrfs)	57679	ALS2	Pathogenic	386134175	RCV000004661;	N	MedGen:C1846588,OMIM:607225	2	202625709	202625710	NM_020919.3:c.1007_1008delTA	NP_065970.2:p.Ile336Thrfs	NC_000002.11:g.202625709_202625710delTA	OMIM Allelic Variant:606352.0008	C1846588 607225 Infantile-onset ascending hereditary spastic paralysis
NM_020919.3(ALS2):c.470G>A (p.Cys157Tyr)	57679	ALS2	Pathogenic	121908138	RCV000004665;	N	MedGen:C1846588,OMIM:607225	2	202626247	202626247	NM_020919.3:c.470G>A	NP_065970.2:p.Cys157Tyr	NC_000002.11:g.202626247C>T	OMIM Allelic Variant:606352.0012	C1846588 607225 Infantile-onset ascending hereditary spastic paralysis