MCID: ATX047
MIFTS: 23

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 6

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® : 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) (Updated 05-Mar-2021)

MalaCards based summary : Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation is related to aceruloplasminemia and perrault syndrome. 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...

Diseases related to Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 aceruloplasminemia 9.8 INCA1 HARS1
2 perrault syndrome 9.7 SPG7 HARS1
3 charcot-marie-tooth disease, axonal, type 2e 9.7 SPG7 HARS1
4 peripheral nervous system disease 9.6 SPG7 HARS1
5 hereditary spastic paraplegia 9.6 SPG7 INCA1
6 alacrima, achalasia, and mental retardation syndrome 9.6 INCA1 HARS1
7 neuropathy 9.5 SPG7 HARS1
8 spastic ataxia 9.4 SPG7 INCA1 HARS1
9 disease of mental health 9.3 SPG7 INCA1 HARS1

Graphical network of the top 20 diseases related to Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation:



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

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 spasticity 31 HP:0001257
5 scoliosis 31 HP:0002650
6 nystagmus 31 HP:0000639
7 dysarthria 31 HP:0001260
8 tremor 31 HP:0001337
9 global developmental delay 31 HP:0001263
10 optic atrophy 31 HP:0000648
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®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
ataxia
dysarthria
tremor
more
Head And Neck Eyes:
nystagmus
optic atrophy
decreased visual acuity

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

Skeletal Spine:
scoliosis

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

Clinical features from OMIM®:

270500 (Updated 05-Mar-2021)

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. 57
1607894 1992
2
Familial spastic ataxia: occurrence in childhood. 57
559257 1977
3
Optic and cochleovestibular degenerations in the hereditary ataxias. I. Clinico-pathological and genetic aspects. 57
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 SPG7 NM_003119.4(SPG7):c.1990_1992del (p.Gln664del) Deletion Pathogenic 625204 rs1597665063 16:89620253-89620255 16:89553845-89553847
2 HARS1 NM_002109.6(HARS1):c.616G>T (p.Asp206Tyr) SNV Pathogenic 804285 rs1131040 5:140057507-140057507 5:140677922-140677922
3 HARS1 NM_002109.6(HARS1):c.730delG Deletion Pathogenic 804286 rs1581505917 5:140057005-140057005 5:140677420-140677420
4 SPG7 NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) SNV Pathogenic 42016 rs61755320 16:89613145-89613145 16:89546737-89546737
5 INCA1 NM_006612.6(KIF1C):c.864+1G>A SNV Likely pathogenic 560374 rs1567721108 17:4907212-4907212 17:5003917-5003917
6 CACNA1A NM_001127222.2(CACNA1A):c.4997G>A (p.Arg1666Gln) SNV Uncertain significance 585575 rs1568447650 19:13346498-13346498 19:13235684-13235684
7 KCNMA1 NM_001161352.2(KCNMA1):c.1361C>A (p.Ala454Asp) SNV Uncertain significance 373984 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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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