SCA34
MCID: SPN104
MIFTS: 30

Spinocerebellar Ataxia 34 (SCA34)

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

Aliases & Classifications for Spinocerebellar Ataxia 34

MalaCards integrated aliases for Spinocerebellar Ataxia 34:

Name: Spinocerebellar Ataxia 34 58 54 76 13
Erythrokeratodermia with Ataxia 58 77 54 60 76 30 6 41 74
Sca34 58 54 60 76
Spinocerebellar Ataxia Type 34 12 60 15
Spinocerebellar Ataxia and Erythrokeratodermia 60
Erythrokeratodermia - Ataxia 54
Erythrokeratodermia Ataxia 77
Giroux Barbeau Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
spinocerebellar ataxia type 34
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
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:

33
spinocerebellar ataxia 34:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Spinocerebellar Ataxia 34

NIH Rare Diseases : 54 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, gait ataxia and dysdiadochokinesis. An important gene associated with Spinocerebellar Ataxia 34 is ELOVL4 (ELOVL Fatty Acid Elongase 4). Affiliated tissues include skin, eye and spinal cord, and related phenotypes are nystagmus and dysarthria

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by papulosquamous, ichthyosiform plaques at birth and progressive ataxia, dysarthria, nystagmus and hyporeflexia, has material basis in mutation in the ELOVL4 gene.

OMIM : 58 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 : 76 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 : 77 Erythrokeratodermia with ataxia is a condition characterized by erythematous, hyperkeratotic plaques... 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 48
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 10.2

Symptoms & Phenotypes for Spinocerebellar Ataxia 34

Human phenotypes related to Spinocerebellar Ataxia 34:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000639
2 dysarthria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001260
3 gait disturbance 60 33 hallmark (90%) Very frequent (99-80%) HP:0001288
4 dry skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000958
5 hypohidrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000966
6 macule 60 33 hallmark (90%) Very frequent (99-80%) HP:0012733
7 urticaria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001025
8 dysdiadochokinesis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002075
9 progressive cerebellar ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002073
10 hyporeflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001265
11 papule 60 33 hallmark (90%) Very frequent (99-80%) HP:0200034
12 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
13 abnormality of the musculature 60 33 occasional (7.5%) Occasional (29-5%) HP:0003011
14 facial asymmetry 60 33 occasional (7.5%) Occasional (29-5%) HP:0000324
15 spasticity 33 occasional (7.5%) HP:0001257
16 intention tremor 33 occasional (7.5%) HP:0002080
17 fasciculations 33 occasional (7.5%) HP:0002380
18 peripheral axonal neuropathy 33 very rare (1%) HP:0003477
19 hyperreflexia 33 HP:0001347
20 neurological speech impairment 60 Very frequent (99-80%)
21 abnormality of movement 60 Frequent (79-30%)
22 hyperkeratosis 33 HP:0000962
23 gait ataxia 33 HP:0002066
24 limb ataxia 33 HP:0002070
25 cerebellar atrophy 33 HP:0001272
26 abnormality of the skin 33 HP:0000951
27 supranuclear gaze palsy 33 HP:0000605
28 impaired smooth pursuit 33 HP:0007772
29 abnormal pyramidal sign 33 HP:0007256

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Spinocerebellar Ataxia 34:


ataxia, gait ataxia, dysdiadochokinesis

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 30 ELOVL4

Anatomical Context for Spinocerebellar Ataxia 34

MalaCards organs/tissues related to Spinocerebellar Ataxia 34:

42
Skin, Eye, Spinal Cord, Cerebellum

Publications for Spinocerebellar Ataxia 34

Articles related to Spinocerebellar Ataxia 34:

# Title Authors Year
1
Erythrokeratodermia with ataxia. ( 5048218 )
1972

Variations for Spinocerebellar Ataxia 34

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

76
# 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 rs1554162301 GRCh37 Chromosome 6, 80631371: 80631371
6 ELOVL4 NM_022726.3(ELOVL4): c.512T> C (p.Ile171Thr) single nucleotide variant Likely pathogenic rs1554162301 GRCh38 Chromosome 6, 79921654: 79921654

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....