MCID: ATX047
MIFTS: 15

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 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation:
Onset and clinical course juvenile onset progressive
Inheritance autosomal recessive inheritance


Classifications:



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

OMIM : 58 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 eye, 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:

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

Symptoms via clinical synopsis from OMIM:

58
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:

42
Cerebellum, Eye

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

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 Assembly Location
1 KCNMA1 NM_001161352.1(KCNMA1): c.1361C> A (p.Ala454Asp) single nucleotide variant Uncertain significance rs1057518815 GRCh37 Chromosome 10, 78846325: 78846325
2 KCNMA1 NM_001161352.1(KCNMA1): c.1361C> A (p.Ala454Asp) single nucleotide variant Uncertain significance rs1057518815 GRCh38 Chromosome 10, 77086567: 77086567
3 INCA1; KIF1C NM_006612.5(KIF1C): c.864+1G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 4907212: 4907212
4 INCA1; KIF1C NM_006612.5(KIF1C): c.864+1G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 5003917: 5003917

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....