CAVIPMR
MCID: CRB165
MIFTS: 26

Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation (CAVIPMR)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebellar Atrophy, Visual Impairment, and Psychomotor...

MalaCards integrated aliases for Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation:

Name: Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 57 72 36 29 6
Cavipmr 57 72
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome 58
Atrophy, Cerebellar, Visual Impairment, Psychomotor Retardation 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset from birth
three unrelated families have been reported (last curated march 2016)


HPO:

31
cerebellar atrophy, visual impairment, and psychomotor retardation:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Cerebellar Atrophy, Visual Impairment, and Psychomotor...

KEGG : 36 Cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR) is a rare autosomal recessive disorder. Mutations in the EMC1 gene, an integral part of the ER membrane complex (EMC), have been recently implicated in individuals affected with CAVIPMR.

MalaCards based summary : Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation, also known as cavipmr, is related to cakut. An important gene associated with Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation is EMC1 (ER Membrane Protein Complex Subunit 1). Affiliated tissues include eye, and related phenotypes are global developmental delay and delayed speech and language development

UniProtKB/Swiss-Prot : 72 Cerebellar atrophy, visual impairment, and psychomotor retardation: An autosomal recessive, neurodegenerative disorder characterized by developmental delay, intellectual disability, hypotonia, scoliosis, cerebellar atrophy, and variable dysmorphic features.

More information from OMIM: 616875

Related Diseases for Cerebellar Atrophy, Visual Impairment, and Psychomotor...

Diseases related to Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cakut 9.5 EMC1-AS1 EMC1

Symptoms & Phenotypes for Cerebellar Atrophy, Visual Impairment, and Psychomotor...

Human phenotypes related to Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 very rare (1%) Very frequent (99-80%) HP:0001263
2 delayed speech and language development 58 31 very rare (1%) Very frequent (99-80%) HP:0000750
3 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
4 retrognathia 58 31 very rare (1%) Very frequent (99-80%) HP:0000278
5 deeply set eye 58 31 very rare (1%) Very frequent (99-80%) HP:0000490
6 diffuse cerebellar atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100275
7 corpus callosum atrophy 58 31 very rare (1%) Very frequent (99-80%) HP:0007371
8 scoliosis 58 31 very rare (1%) Frequent (79-30%) HP:0002650
9 gingival overgrowth 58 31 very rare (1%) Frequent (79-30%) HP:0000212
10 abnormality of visual evoked potentials 58 31 very rare (1%) Frequent (79-30%) HP:0000649
11 short philtrum 58 31 very rare (1%) Frequent (79-30%) HP:0000322
12 hyporeflexia 58 31 very rare (1%) Frequent (79-30%) HP:0001265
13 intellectual disability, profound 58 31 frequent (33%) Frequent (79-30%) HP:0002187
14 cerebral atrophy 58 31 occasional (7.5%) Frequent (79-30%) HP:0002059
15 prominent fingertip pads 58 31 very rare (1%) Frequent (79-30%) HP:0001212
16 limb hypertonia 58 31 very rare (1%) Frequent (79-30%) HP:0002509
17 progressive microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000253
18 dystonic gait 58 31 frequent (33%) Frequent (79-30%) HP:0031954
19 eeg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0002353
20 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
21 micrognathia 58 31 very rare (1%) Occasional (29-5%) HP:0000347
22 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
23 vitiligo 58 31 occasional (7.5%) Occasional (29-5%) HP:0001045
24 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
25 low anterior hairline 58 31 very rare (1%) Occasional (29-5%) HP:0000294
26 astigmatism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000483
27 abnormality of the pinna 58 31 occasional (7.5%) Occasional (29-5%) HP:0000377
28 cerebral visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100704
29 esotropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000565
30 laryngotracheomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008755
31 dystonia 31 occasional (7.5%) HP:0001332
32 hypertelorism 31 very rare (1%) HP:0000316
33 abnormal electroretinogram 31 very rare (1%) HP:0000512
34 cerebellar atrophy 31 very rare (1%) HP:0001272
35 postnatal microcephaly 31 very rare (1%) HP:0005484
36 muscular hypotonia of the trunk 31 very rare (1%) HP:0008936
37 short upper lip 31 very rare (1%) HP:0000188
38 seizure 31 very rare (1%) HP:0001250
39 intellectual disability 31 HP:0001249
40 strabismus 58 Occasional (29-5%)
41 hypoplasia of the corpus callosum 31 HP:0002079
42 psychomotor retardation 31 HP:0025356
43 generalized hypotonia 31 HP:0001290
44 hypermetropia 31 HP:0000540

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
cerebellar atrophy
psychomotor retardation
speech delay
dystonia (in some patients)
more
Head And Neck Eyes:
abnormal electroretinogram
deep-set eyes
hyperopia (in some patients)
astigmatism (in some patients)
esotropia (in some patients)
more
Neurologic Peripheral Nervous System:
hyporeflexia

Head And Neck Mouth:
gingival hyperplasia

Skeletal Spine:
scoliosis

Head And Neck Face:
retrognathia
short philtrum

Muscle Soft Tissue:
hypotonia

Head And Neck Head:
microcephaly, acquired (up to -4 sd)

Clinical features from OMIM®:

616875 (Updated 20-May-2021)

Drugs & Therapeutics for Cerebellar Atrophy, Visual Impairment, and Psychomotor...

Search Clinical Trials , NIH Clinical Center for Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation

Genetic Tests for Cerebellar Atrophy, Visual Impairment, and Psychomotor...

Genetic tests related to Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation:

# Genetic test Affiliating Genes
1 Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 29 EMC1

Anatomical Context for Cerebellar Atrophy, Visual Impairment, and Psychomotor...

MalaCards organs/tissues related to Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation:

40
Eye

Publications for Cerebellar Atrophy, Visual Impairment, and Psychomotor...

Articles related to Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation:

# Title Authors PMID Year
1
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 6 57
26942288 2016

Variations for Cerebellar Atrophy, Visual Impairment, and Psychomotor...

ClinVar genetic disease variations for Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation:

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EMC1-AS1 , EMC1 NM_015047.3(EMC1):c.2602G>A (p.Gly868Arg) SNV Pathogenic 219101 rs869320626 GRCh37: 1:19547328-19547328
GRCh38: 1:19220834-19220834
2 EMC1-AS1 , EMC1 NM_015047.3(EMC1):c.2619_2622del (p.Pro874fs) Deletion Pathogenic 219099 rs869320624 GRCh37: 1:19547308-19547311
GRCh38: 1:19220814-19220817
3 EMC1-AS1 , EMC1 NM_015047.3(EMC1):c.1411G>C (p.Gly471Arg) SNV Pathogenic 219102 rs879253819 GRCh37: 1:19561645-19561645
GRCh38: 1:19235151-19235151
4 EMC1 NM_015047.3(EMC1):c.426C>A (p.Tyr142Ter) SNV Pathogenic 1031862 GRCh37: 1:19568922-19568922
GRCh38: 1:19242428-19242428
5 EMC1-AS1 , EMC1 NM_015047.3(EMC1):c.1754C>A (p.Pro585Gln) SNV Likely pathogenic 801454 rs1572001567 GRCh37: 1:19559146-19559146
GRCh38: 1:19232652-19232652
6 EMC1-AS1 , EMC1 NM_015047.3(EMC1):c.1751C>G (p.Pro584Arg) SNV Likely pathogenic 801455 rs1553252938 GRCh37: 1:19559149-19559149
GRCh38: 1:19232655-19232655
7 EMC1 NM_015047.3(EMC1):c.104A>G (p.Gln35Arg) SNV Uncertain significance 1029344 GRCh37: 1:19571516-19571516
GRCh38: 1:19245022-19245022
8 EMC1-AS1 , EMC1 NM_015047.3(EMC1):c.1109A>G (p.Asn370Ser) SNV Uncertain significance 1003444 GRCh37: 1:19564614-19564614
GRCh38: 1:19238120-19238120
9 EMC1-AS1 , EMC1 NM_015047.3(EMC1):c.1127A>C (p.Asn376Thr) SNV Uncertain significance 1029345 GRCh37: 1:19564596-19564596
GRCh38: 1:19238102-19238102
10 EMC1-AS1 , EMC1 NM_015047.3(EMC1):c.2248G>A (p.Ala750Thr) SNV Uncertain significance 1019129 GRCh37: 1:19550018-19550018
GRCh38: 1:19223524-19223524
11 EMC1-AS1 , EMC1 NM_015047.3(EMC1):c.1107C>G (p.Phe369Leu) SNV Uncertain significance 1031859 GRCh37: 1:19564616-19564616
GRCh38: 1:19238122-19238122
12 EMC1-AS1 , EMC1 NM_015047.3(EMC1):c.2374G>C (p.Val792Leu) SNV Uncertain significance 1031860 GRCh37: 1:19549892-19549892
GRCh38: 1:19223398-19223398
13 EMC1-AS1 , EMC1 NM_015047.3(EMC1):c.2591G>T (p.Gly864Val) SNV Uncertain significance 1031861 GRCh37: 1:19547339-19547339
GRCh38: 1:19220845-19220845
14 EMC1 NM_015047.3(EMC1):c.305A>G (p.Asn102Ser) SNV Uncertain significance 842236 GRCh37: 1:19570183-19570183
GRCh38: 1:19243689-19243689
15 EMC1 NM_015047.3(EMC1):c.245C>T (p.Thr82Met) SNV Uncertain significance 219100 rs869320625 GRCh37: 1:19570485-19570485
GRCh38: 1:19243991-19243991

UniProtKB/Swiss-Prot genetic disease variations for Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation:

72
# Symbol AA change Variation ID SNP ID
1 EMC1 p.Thr82Met VAR_076915 rs869320625
2 EMC1 p.Gly868Arg VAR_076918 rs869320626

Expression for Cerebellar Atrophy, Visual Impairment, and Psychomotor...

Search GEO for disease gene expression data for Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation.

Pathways for Cerebellar Atrophy, Visual Impairment, and Psychomotor...

GO Terms for Cerebellar Atrophy, Visual Impairment, and Psychomotor...

Sources for Cerebellar Atrophy, Visual Impairment, and Psychomotor...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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