MCID: ATX047
MIFTS: 18

Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation

Categories: Eye diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic...

MalaCards integrated aliases for Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation:

Name: Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
early childhood onset
five patients have been reported (as of april 2011)


HPO:

31
ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset progressive


Classifications:



Summaries for Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic...

OMIM : 56 This progressive neurodegenerative disorder is characterized by early childhood onset of spastic ataxia with mental retardation, cerebellar signs, and variable optic atrophy (Hogan and Bauman, 1977). (270500)

MalaCards based summary : Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation An important gene associated with Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation is HARS1 (Histidyl-TRNA Synthetase 1). Affiliated tissues include cerebellum, and related phenotypes are sensorineural hearing impairment and peripheral neuropathy

Related Diseases for Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic...

Symptoms & Phenotypes for Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic...

Human phenotypes related to Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 frequent (33%) HP:0000407
2 peripheral neuropathy 31 frequent (33%) HP:0009830
3 intellectual disability 31 HP:0001249
4 global developmental delay 31 HP:0001263
5 scoliosis 31 HP:0002650
6 optic atrophy 31 HP:0000648
7 spasticity 31 HP:0001257
8 nystagmus 31 HP:0000639
9 tremor 31 HP:0001337
10 dysarthria 31 HP:0001260
11 reduced visual acuity 31 HP:0007663
12 dysmetria 31 HP:0001310
13 abnormal cerebellum morphology 31 HP:0001317
14 broad-based gait 31 HP:0002136
15 babinski sign 31 HP:0003487
16 clumsiness 31 HP:0002312
17 spastic ataxia 31 HP:0002497
18 ankle clonus 31 HP:0011448
19 poor coordination 31 HP:0002370

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis

Neurologic Central Nervous System:
spasticity
ataxia
tremor
hyperreflexia
dysarthria
more
Neurologic Peripheral Nervous System:
peripheral neuropathy (variable)
poor vibratory sense

Head And Neck Eyes:
optic atrophy
nystagmus
decreased visual acuity

Head And Neck Ears:
hearing loss, sensorineural (variable)

Clinical features from OMIM:

270500

Drugs & Therapeutics for Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic...

Search Clinical Trials , NIH Clinical Center for Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation

Genetic Tests for Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic...

Anatomical Context for Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic...

MalaCards organs/tissues related to Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation:

40
Cerebellum

Publications for Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic...

Articles related to Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation:

# Title Authors PMID Year
1
A syndrome of early onset spinocerebellar ataxia with optic atrophy, internuclear ophthalmoplegia, dementia, and startle myoclonus in a Sri Lankan family. 56
1607894 1992
2
Familial spastic ataxia: occurrence in childhood. 56
559257 1977
3
Optic and cochleovestibular degenerations in the hereditary ataxias. I. Clinico-pathological and genetic aspects. 56
4154794 1974

Variations for Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic...

ClinVar genetic disease variations for Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HARS1 NM_002109.6(HARS1):c.616G>T (p.Asp206Tyr)SNV Pathogenic 804285 5:140057507-140057507 5:140677922-140677922
2 HARS1 NM_002109.6:c.730delGdeletion Pathogenic 804286
3 INCA1 , KIF1C NM_006612.6(KIF1C):c.864+1G>ASNV Likely pathogenic 560374 rs1567721108 17:4907212-4907212 17:5003917-5003917
4 SPG7 NM_003119.4(SPG7):c.1990_1992del (p.Gln664del)deletion Likely pathogenic 625204 16:89620253-89620255 16:89553845-89553847
5 SPG7 NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)SNV Conflicting interpretations of pathogenicity 42016 rs61755320 16:89613145-89613145 16:89546737-89546737
6 KCNMA1 NM_001161352.2(KCNMA1):c.1361C>A (p.Ala454Asp)SNV Uncertain significance 373984 rs1057518815 10:78846325-78846325 10:77086567-77086567
7 CACNA1A NM_000068.4(CACNA1A):c.5015G>A (p.Arg1672Gln)SNV Uncertain significance 585575 rs1568447650 19:13346498-13346498 19:13235684-13235684

Expression for Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic...

Search GEO for disease gene expression data for Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation.

Pathways for Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic...

GO Terms for Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic...

Sources for Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic...

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