SCA42ND
MCID: SPN424
MIFTS: 19

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 58 76 6
Sca42nd 58 76

Characteristics:

OMIM:

58
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...

UniProtKB/Swiss-Prot : 76 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 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...

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

33 (show all 22)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 HP:0000316
2 clinodactyly 33 HP:0030084
3 intellectual disability 33 HP:0001249
4 spasticity 33 HP:0001257
5 hyperreflexia 33 HP:0001347
6 mandibular prognathia 33 HP:0000303
7 global developmental delay 33 HP:0001263
8 short nose 33 HP:0003196
9 strabismus 33 HP:0000486
10 dysmetria 33 HP:0001310
11 dystonia 33 HP:0001332
12 inability to walk 33 HP:0002540
13 cerebellar hypoplasia 33 HP:0001321
14 deeply set eye 33 HP:0000490
15 upslanted palpebral fissure 33 HP:0000582
16 sparse hair 33 HP:0008070
17 oculomotor apraxia 33 HP:0000657
18 poor head control 33 HP:0002421
19 hirsutism 33 HP:0001007
20 syndactyly 33 HP:0001159
21 hypermetropia 33 HP:0000540
22 narrow palpebral fissure 33 HP:0045025

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
Eye, Spinal Cord, Cerebellum

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

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

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

76
# Symbol AA change Variation ID SNP ID
1 CACNA1G p.Ala961Thr VAR_081177 rs886041505
2 CACNA1G p.Met1531Val VAR_081178

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 GRCh38 Chromosome 17, 50592063: 50592063
2 CACNA1G NM_018896.4(CACNA1G): c.2881G> A (p.Ala961Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs886041505 GRCh37 Chromosome 17, 48669424: 48669424
3 CACNA1G NM_018896.4(CACNA1G): c.4591A> G (p.Met1531Val) single nucleotide variant Pathogenic rs1555558553 GRCh37 Chromosome 17, 48685266: 48685266
4 CACNA1G NM_018896.4(CACNA1G): c.4591A> G (p.Met1531Val) single nucleotide variant Pathogenic rs1555558553 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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