SCA42ND
MCID: SPN424
MIFTS: 20

Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits (SCA42ND)

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 74 29 6
Sca42nd 57 74

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)


HPO:

32
spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 618087
MeSH 44 D020754

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

UniProtKB/Swiss-Prot : 74 Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA42ND is an early- onset, severe form associated with motor and cognitive impairment, cerebellar atrophy as well as variable features such as facial dysmorphisms, digital anomalies, microcephaly and epilepsy. SCA42ND inheritance is autosomal dominant.

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, spinal cord and cerebellum, and related phenotypes are microcephaly and hypertelorism

More information from OMIM: 618087

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

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

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

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 very rare (1%) HP:0000252
2 hypertelorism 32 HP:0000316
3 clinodactyly 32 HP:0030084
4 intellectual disability 32 HP:0001249
5 spasticity 32 HP:0001257
6 hyperreflexia 32 HP:0001347
7 mandibular prognathia 32 HP:0000303
8 global developmental delay 32 HP:0001263
9 short nose 32 HP:0003196
10 strabismus 32 HP:0000486
11 dysmetria 32 HP:0001310
12 dystonia 32 HP:0001332
13 inability to walk 32 HP:0002540
14 cerebellar hypoplasia 32 HP:0001321
15 deeply set eye 32 HP:0000490
16 upslanted palpebral fissure 32 HP:0000582
17 sparse hair 32 HP:0008070
18 oculomotor apraxia 32 HP:0000657
19 poor head control 32 HP:0002421
20 hirsutism 32 HP:0001007
21 syndactyly 32 HP:0001159
22 muscular hypotonia of the trunk 32 HP:0008936
23 hypermetropia 32 HP:0000540
24 narrow palpebral fissure 32 HP:0045025
25 anteverted ears 32 HP:0040080

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 Ears:
anteverted ears

Muscle Soft Tissue:
axial hypotonia

Skeletal Hands:
clinodactyly
distal abnormalities

Head And Neck Nose:
short nose
small nares

Skeletal Feet:
syndactyly
distal abnormalities

Head And Neck Face:
prognathism
dysmorphic features, variable

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

Clinical features from OMIM:

618087

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...

Genetic tests related to Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits 29 CACNA1G

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, Spinal Cord, Cerebellum

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

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

# Title Authors PMID Year
1
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene. 8 71
29878067 2018

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 GRCh37 Pos GRCh38 Pos
1 CACNA1G NM_018896.5(CACNA1G): c.4591A> G (p.Met1531Val) single nucleotide variant Pathogenic rs1555558553 17:48685266-48685266 17:50607905-50607905
2 CACNA1G NM_018896.5(CACNA1G): c.5144G> A (p.Arg1715His) single nucleotide variant Pathogenic rs755221106 17:48694921-48694921 17:50617560-50617560
3 CACNA1G NM_018896.5(CACNA1G): c.2881G> A (p.Ala961Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs886041505 17:48669424-48669424 17:50592063-50592063
4 CACNA1G NM_018896.5(CACNA1G): c.3278C> T (p.Pro1093Leu) single nucleotide variant Uncertain significance 17:48676808-48676808 17:50599447-50599447
5 CACNA1G NM_018896.5(CACNA1G): c.4151G> A (p.Arg1384Gln) single nucleotide variant Uncertain significance 17:48680542-48680542 17:50603181-50603181

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits:

74
# Symbol AA change Variation ID SNP ID
1 CACNA1G p.Ala961Thr VAR_081177 rs886041505
2 CACNA1G p.Met1531Val VAR_081178 rs155555855

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....