MCID: ATX047
MIFTS: 14

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 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset progressive


Classifications:



External Ids:

OMIM 57 270500
MedGen 42 C3151619

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

OMIM : 57 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 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:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 frequent (33%) HP:0000407
2 peripheral neuropathy 32 frequent (33%) HP:0009830
3 nystagmus 32 HP:0000639
4 intellectual disability 32 HP:0001249
5 spasticity 32 HP:0001257
6 dysarthria 32 HP:0001260
7 tremor 32 HP:0001337
8 scoliosis 32 HP:0002650
9 global developmental delay 32 HP:0001263
10 optic atrophy 32 HP:0000648
11 babinski sign 32 HP:0003487
12 dysmetria 32 HP:0001310
13 reduced visual acuity 32 HP:0007663
14 clumsiness 32 HP:0002312
15 abnormal cerebellum morphology 32 HP:0001317
16 ankle clonus 32 HP:0011448
17 poor coordination 32 HP:0002370
18 spastic ataxia 32 HP:0002497
19 broad-based gait 32 HP:0002136

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
optic atrophy
decreased visual acuity

Skeletal Spine:
scoliosis

Neurologic Peripheral Nervous System:
peripheral neuropathy (variable)
poor vibratory sense

Neurologic Central Nervous System:
ataxia
spasticity
dysarthria
tremor
hyperreflexia
more
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:

41
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. 8
1607894 1992
2
Familial spastic ataxia: occurrence in childhood. 8
559257 1977
3
Optic and cochleovestibular degenerations in the hereditary ataxias. I. Clinico-pathological and genetic aspects. 8
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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 INCA1 ; KIF1C NM_006612.6(KIF1C): c.864+1G> A single nucleotide variant Likely pathogenic 17:4907212-4907212 17:5003917-5003917
2 KCNMA1 NM_001014797.3(KCNMA1): c.1361C> A (p.Ala454Asp) single nucleotide variant Uncertain significance rs1057518815 10:78846325-78846325 10:77086567-77086567

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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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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