SCA42ND
MCID: SPN424
MIFTS: 22

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 56 73 29 6
Sca42nd 56 73

Characteristics:

OMIM:

56
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:

31
spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits:
Inheritance autosomal dominant inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 73 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, cerebellum and spinal cord, 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:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 very rare (1%) HP:0000252
2 hypertelorism 31 HP:0000316
3 clinodactyly 31 HP:0030084
4 intellectual disability 31 HP:0001249
5 spasticity 31 HP:0001257
6 hyperreflexia 31 HP:0001347
7 global developmental delay 31 HP:0001263
8 mandibular prognathia 31 HP:0000303
9 short nose 31 HP:0003196
10 strabismus 31 HP:0000486
11 dysmetria 31 HP:0001310
12 dystonia 31 HP:0001332
13 inability to walk 31 HP:0002540
14 cerebellar hypoplasia 31 HP:0001321
15 deeply set eye 31 HP:0000490
16 upslanted palpebral fissure 31 HP:0000582
17 sparse hair 31 HP:0008070
18 oculomotor apraxia 31 HP:0000657
19 poor head control 31 HP:0002421
20 hirsutism 31 HP:0001007
21 syndactyly 31 HP:0001159
22 muscular hypotonia of the trunk 31 HP:0008936
23 hypermetropia 31 HP:0000540
24 narrow palpebral fissure 31 HP:0045025
25 anteverted ears 31 HP:0040080

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
strabismus
oculomotor apraxia
deep-set eyes
hyperopia
more
Neurologic Central Nervous System:
spasticity
hyperreflexia
ataxia
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:

40
Eye, Cerebellum, Spinal Cord

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. 56 6
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CACNA1G NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His)SNV Pathogenic 221981 rs755221106 17:48694921-48694921 17:50617560-50617560
2 CACNA1G NM_018896.5(CACNA1G):c.4591A>G (p.Met1531Val)SNV Pathogenic 559581 rs1555558553 17:48685266-48685266 17:50607905-50607905
3 CACNA1G NM_018896.5(CACNA1G):c.2881G>A (p.Ala961Thr)SNV Conflicting interpretations of pathogenicity 280269 rs886041505 17:48669424-48669424 17:50592063-50592063
4 CACNA1G NM_018896.5(CACNA1G):c.3278C>T (p.Pro1093Leu)SNV Uncertain significance 638515 17:48676808-48676808 17:50599447-50599447
5 CACNA1G NM_018896.5(CACNA1G):c.4151G>A (p.Arg1384Gln)SNV Uncertain significance 638503 17:48680542-48680542 17:50603181-50603181

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

73
# 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...

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