MCID: SPN104
MIFTS: 29

Spinocerebellar Ataxia 34

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Eye diseases, Mental diseases, Ear diseases, Metabolic diseases, Fetal diseases, Liver diseases

Aliases & Classifications for Spinocerebellar Ataxia 34

MalaCards integrated aliases for Spinocerebellar Ataxia 34:

Name: Spinocerebellar Ataxia 34 57 53 75 13
Erythrokeratodermia with Ataxia 57 76 53 59 75 29 6 40 73
Sca34 57 53 59 75
Spinocerebellar Ataxia Type 34 12 59 15
Spinocerebellar Ataxia and Erythrokeratodermia 59
Erythrokeratodermia - Ataxia 53
Erythrokeratodermia Ataxia 76
Giroux Barbeau Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 34
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
one family of french-canadian origin had skin lesions
skin lesion appear shortly after birth and tend to disappear in young adulthood
skin lesions tend to occur on distal extremities or at elbows and knees
skin lesions improve in the summer
cerebellar ataxia shows onset in young adulthood
ataxia is slowly progressive
many patients become wheelchair-bound later in life


HPO:

32
spinocerebellar ataxia 34:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 133190
Disease Ontology 12 DOID:0050981
Orphanet 59 ORPHA1955
MESH via Orphanet 45 C535514 C535738
UMLS via Orphanet 74 C1851481 C2930921
ICD10 via Orphanet 34 G11.1
MedGen 42 C1851481
UMLS 73 C1851481

Summaries for Spinocerebellar Ataxia 34

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1955Disease definitionSpinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.EpidemiologySCA34 has been reported in 25 members of one French-Canadian family to date.Clinical descriptionDisease onset occurs shortly after birth with the appearance of papulosquamous, ichthyosiform plaques on the limbs, which are often only present in the winter. After the age of 25 they tend to disappear completely. Progressive ataxia, dysarthria, decreased reflexes, and nystagmus are further clinical signs of the disease that occur after the onset of skin manifestations, generally in the third to fourth decade of life. Cerebellar and pontine atrophy is visible with magnetic resonance imaging (MRI) in individuals who develop cerebellar ataxia.EtiologySCA34 is due to a mutation in the ELOVL4 gene (6q14).Genetic counselingSCA34 is inherited in an autosomal dominant manner and genetic counseling is possible.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia 34, also known as erythrokeratodermia with ataxia, is related to autosomal dominant cerebellar ataxia, and has symptoms including ataxia, dysdiadochokinesis and gait ataxia. An important gene associated with Spinocerebellar Ataxia 34 is ELOVL4 (ELOVL Fatty Acid Elongase 4). Affiliated tissues include skin, spinal cord and cerebellum, and related phenotypes are facial asymmetry and strabismus

OMIM : 57 Spinocerebellar ataxia-34 is an autosomal dominant disorder characterized by slowly progressive cerebellar ataxia. The age at onset is usually during the young adult years, and most patients remain ambulatory until late in life. One family with SCA34 also had onset of erythema and hyperkeratosis in early childhood (Cadieux-Dion et al., 2014), whereas other families have additional neurologic signs, including ocular movement disturbances and pyramidal tract signs (Ozaki et al., 2015). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (133190)

UniProtKB/Swiss-Prot : 75 Spinocerebellar ataxia 34: 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. SCA34 is an autosomal dominant form characterized by the association of progressive cerebellar ataxia with erythrokeratodermia variabilis.

Wikipedia : 76 Erythrokeratodermia with ataxia (also known as \"Giroux–Barbeau syndrome\") is a condition characterized... more...

Related Diseases for Spinocerebellar Ataxia 34

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 6
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14 Spinocerebellar Ataxia, Autosomal Recessive 1
Spinocerebellar Ataxia 15 Spinocerebellar Ataxia 17
Spinocerebellar Ataxia, Autosomal Recessive 4 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia 21 Spinocerebellar Ataxia 18
Spinocerebellar Ataxia, Autosomal Recessive 6 Spinocerebellar Ataxia 20
Spinocerebellar Ataxia 25 Spinocerebellar Ataxia 8
Spinocerebellar Ataxia, Autosomal Recessive 7 Spinocerebellar Ataxia 26
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 23
Spinocerebellar Ataxia 28 Spinocerebellar Ataxia, Autosomal Recessive 8
Spinocerebellar Ataxia 9 Spinocerebellar Ataxia 30
Spinocerebellar Ataxia, Autosomal Recessive 10 Spinocerebellar Ataxia 35
Spinocerebellar Ataxia 32 Spinocerebellar Ataxia 36
Spinocerebellar Ataxia, Autosomal Recessive 11 Spinocerebellar Ataxia, Autosomal Recessive 12
Spinocerebellar Ataxia, Autosomal Recessive 13 Spinocerebellar Ataxia, Autosomal Recessive 14
Spinocerebellar Ataxia, Autosomal Recessive 15 Spinocerebellar Ataxia, Autosomal Recessive 16
Spinocerebellar Ataxia 37 Spinocerebellar Ataxia 38
Spinocerebellar Ataxia 40 Spinocerebellar Ataxia, Autosomal Recessive 17
Spinocerebellar Ataxia, Autosomal Recessive 18 Spinocerebellar Ataxia, Autosomal Recessive 20
Spinocerebellar Ataxia 41 Spinocerebellar Ataxia, Autosomal Recessive 21
Spinocerebellar Ataxia 42 Spinocerebellar Ataxia, Autosomal Recessive 22
Spinocerebellar Ataxia, Autosomal Recessive 23 Spinocerebellar Ataxia 43
Spinocerebellar Ataxia, Autosomal Recessive 24 Spinocerebellar Ataxia, Autosomal Recessive 25
Spinocerebellar Ataxia, Autosomal Recessive 26 Spinocerebellar Ataxia 44
Spinocerebellar Ataxia 45 Spinocerebellar Ataxia 46
Spinocerebellar Ataxia 47 Spinocerebellar Ataxia Type 16
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 34 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 10.0

Symptoms & Phenotypes for Spinocerebellar Ataxia 34

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
supranuclear gaze palsy
impaired smooth pursuit

Neurologic Peripheral Nervous System:
hyperreflexia
hyporeflexia
axonal peripheral neuropathy, mild (in some patients)

Skin Nails Hair Skin:
erythrokeratodermia (1 family)
papulosquamous erythematous plaques (1 family)

Muscle Soft Tissue:
fasciculations (less common)

Neurologic Central Nervous System:
dysarthria
limb ataxia
cerebellar atrophy
pyramidal signs
ataxic gait
more
Genitourinary Bladder:
bladder dysfunction

Skin Nails Hair Skin Histology:
hyperkeratosis (1 family)
increased granular cell layer with vacuolization and clumping of keratohyaline granules (1 family)
papillomatosis (1 family)


Clinical features from OMIM:

133190

Human phenotypes related to Spinocerebellar Ataxia 34:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 facial asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0000324
2 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
3 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
4 dry skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000958
5 hypohidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000966
6 urticaria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001025
7 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
8 hyporeflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001265
9 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
10 progressive cerebellar ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002073
11 dysdiadochokinesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002075
12 abnormality of the musculature 59 32 occasional (7.5%) Occasional (29-5%) HP:0003011
13 macule 59 32 hallmark (90%) Very frequent (99-80%) HP:0012733
14 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
15 neurological speech impairment 59 Very frequent (99-80%)
16 abnormality of movement 59 Frequent (79-30%)
17 abnormality of the skin 32 HP:0000951
18 hyperkeratosis 32 HP:0000962
19 ataxia 32 HP:0001251
20 spasticity 32 occasional (7.5%) HP:0001257
21 cerebellar atrophy 32 HP:0001272
22 gait ataxia 32 HP:0002066
23 intention tremor 32 occasional (7.5%) HP:0002080
24 fasciculations 32 occasional (7.5%) HP:0002380

UMLS symptoms related to Spinocerebellar Ataxia 34:


ataxia, dysdiadochokinesis, gait ataxia

Drugs & Therapeutics for Spinocerebellar Ataxia 34

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Spinocerebellar Ataxia 34

Genetic Tests for Spinocerebellar Ataxia 34

Genetic tests related to Spinocerebellar Ataxia 34:

# Genetic test Affiliating Genes
1 Erythrokeratodermia with Ataxia 29 ELOVL4

Anatomical Context for Spinocerebellar Ataxia 34

MalaCards organs/tissues related to Spinocerebellar Ataxia 34:

41
Skin, Spinal Cord, Cerebellum, Eye

Publications for Spinocerebellar Ataxia 34

Articles related to Spinocerebellar Ataxia 34:

# Title Authors Year
1
Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. ( 24566826 )
2014

Variations for Spinocerebellar Ataxia 34

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 34:

75
# Symbol AA change Variation ID SNP ID
1 ELOVL4 p.Leu168Phe VAR_072565 rs587777598

ClinVar genetic disease variations for Spinocerebellar Ataxia 34:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ELOVL4 NM_022726.3(ELOVL4): c.504G> C (p.Leu168Phe) single nucleotide variant Pathogenic rs587777598 GRCh37 Chromosome 6, 80631379: 80631379
2 ELOVL4 NM_022726.3(ELOVL4): c.504G> C (p.Leu168Phe) single nucleotide variant Pathogenic rs587777598 GRCh38 Chromosome 6, 79921662: 79921662
3 ELOVL4 NM_022726.3(ELOVL4): c.736T> G (p.Trp246Gly) single nucleotide variant Likely pathogenic rs1131692036 GRCh38 Chromosome 6, 79916817: 79916817
4 ELOVL4 NM_022726.3(ELOVL4): c.736T> G (p.Trp246Gly) single nucleotide variant Likely pathogenic rs1131692036 GRCh37 Chromosome 6, 80626534: 80626534
5 ELOVL4 NM_022726.3(ELOVL4): c.512T> C (p.Ile171Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 79921654: 79921654
6 ELOVL4 NM_022726.3(ELOVL4): c.512T> C (p.Ile171Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 80631371: 80631371

Expression for Spinocerebellar Ataxia 34

Search GEO for disease gene expression data for Spinocerebellar Ataxia 34.

Pathways for Spinocerebellar Ataxia 34

GO Terms for Spinocerebellar Ataxia 34

Sources for Spinocerebellar Ataxia 34

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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