MCID: SPN424
MIFTS: 16

Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Spinocerebellar Ataxia 42, Early-Onset, Severe, with...

MalaCards integrated aliases for Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits:

Name: Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits 57 6
Sca42nd 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset soon after birth or in early infancy
four unrelated girls have been reported (last curated august 2018)


Classifications:



Summaries for Spinocerebellar Ataxia 42, Early-Onset, Severe, with...

MalaCards based summary : Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits, is also known as sca42nd. An important gene associated with Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits is CACNA1G (Calcium Voltage-Gated Channel Subunit Alpha1 G). Affiliated tissues include eye, and related phenotypes are hypertelorism and clinodactyly

Description from OMIM: 618087

Related Diseases for Spinocerebellar Ataxia 42, Early-Onset, Severe, with...

Symptoms & Phenotypes for Spinocerebellar Ataxia 42, Early-Onset, Severe, with...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus
oculomotor apraxia
deep-set eyes
hyperopia
more
Neurologic Central Nervous System:
ataxia
spasticity
hyperreflexia
dysmetria
dystonia
more
Skin Nails Hair Hair:
sparse hair
hirsutism

Head And Neck Face:
prognathism
dysmorphic features, variable

Head And Neck Ears:
anteverted ears

Skeletal Hands:
clinodactyly
distal abnormalities

Head And Neck Nose:
short nose
small nares

Skeletal Feet:
syndactyly
distal abnormalities

Muscle Soft Tissue:
axial hypotonia

Head And Neck Head:
microcephaly, mild (-2 to -2.5 sd) (in some patients)


Clinical features from OMIM:

618087

Human phenotypes related to Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 clinodactyly 32 HP:0030084
3 intellectual disability 32 HP:0001249
4 spasticity 32 HP:0001257
5 hyperreflexia 32 HP:0001347
6 mandibular prognathia 32 HP:0000303
7 global developmental delay 32 HP:0001263
8 short nose 32 HP:0003196
9 strabismus 32 HP:0000486
10 dysmetria 32 HP:0001310
11 dystonia 32 HP:0001332
12 inability to walk 32 HP:0002540
13 cerebellar hypoplasia 32 HP:0001321
14 deeply set eye 32 HP:0000490
15 upslanted palpebral fissure 32 HP:0000582
16 sparse hair 32 HP:0008070
17 oculomotor apraxia 32 HP:0000657
18 poor head control 32 HP:0002421
19 hirsutism 32 HP:0001007
20 syndactyly 32 HP:0001159
21 hypermetropia 32 HP:0000540
22 narrow palpebral fissure 32 HP:0045025

Drugs & Therapeutics for Spinocerebellar Ataxia 42, Early-Onset, Severe, with...

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits

Genetic Tests for Spinocerebellar Ataxia 42, Early-Onset, Severe, with...

Anatomical Context for Spinocerebellar Ataxia 42, Early-Onset, Severe, with...

MalaCards organs/tissues related to Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits:

41
Eye

Publications for Spinocerebellar Ataxia 42, Early-Onset, Severe, with...

Variations for Spinocerebellar Ataxia 42, Early-Onset, Severe, with...

ClinVar genetic disease variations for Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1G NM_018896.4(CACNA1G): c.2881G> A (p.Ala961Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs886041505 GRCh37 Chromosome 17, 48669424: 48669424
2 CACNA1G NM_018896.4(CACNA1G): c.2881G> A (p.Ala961Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs886041505 GRCh38 Chromosome 17, 50592063: 50592063
3 CACNA1G NM_018896.4(CACNA1G): c.4591A> G (p.Met1531Val) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 48685266: 48685266
4 CACNA1G NM_018896.4(CACNA1G): c.4591A> G (p.Met1531Val) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 50607905: 50607905

Expression for Spinocerebellar Ataxia 42, Early-Onset, Severe, with...

Search GEO for disease gene expression data for Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits.

Pathways for Spinocerebellar Ataxia 42, Early-Onset, Severe, with...

GO Terms for Spinocerebellar Ataxia 42, Early-Onset, Severe, with...

Sources for Spinocerebellar Ataxia 42, Early-Onset, Severe, with...

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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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