CAVIPMR
MCID: CRB165
MIFTS: 22

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 58 76 38 30 6
Cavipmr 58 76
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome 60
Atrophy, Cerebellar, Visual Impairment, Psychomotor Retardation 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
cerebellar atrophy, visual impairment, and psychomotor retardation:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 76 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.

MalaCards based summary : Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation, is also known as cavipmr. 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 dystonia and cerebral atrophy

Description from OMIM: 616875

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

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

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

33 (show all 35)
# Description HPO Frequency HPO Source Accession
1 dystonia 33 occasional (7.5%) HP:0001332
2 cerebral atrophy 33 occasional (7.5%) HP:0002059
3 hypertelorism 33 very rare (1%) HP:0000316
4 seizures 33 very rare (1%) HP:0001250
5 scoliosis 33 very rare (1%) HP:0002650
6 gingival overgrowth 33 very rare (1%) HP:0000212
7 global developmental delay 33 very rare (1%) HP:0001263
8 delayed speech and language development 33 very rare (1%) HP:0000750
9 abnormality of visual evoked potentials 33 very rare (1%) HP:0000649
10 micrognathia 33 very rare (1%) HP:0000347
11 retrognathia 33 very rare (1%) HP:0000278
12 abnormal electroretinogram 33 very rare (1%) HP:0000512
13 short philtrum 33 very rare (1%) HP:0000322
14 deeply set eye 33 very rare (1%) HP:0000490
15 low anterior hairline 33 very rare (1%) HP:0000294
16 hyporeflexia 33 very rare (1%) HP:0001265
17 cerebellar atrophy 33 very rare (1%) HP:0001272
18 corpus callosum atrophy 33 very rare (1%) HP:0007371
19 postnatal microcephaly 33 very rare (1%) HP:0005484
20 short upper lip 33 very rare (1%) HP:0000188
21 muscular hypotonia of the trunk 33 very rare (1%) HP:0008936
22 limb hypertonia 33 very rare (1%) HP:0002509
23 prominent fingertip pads 33 very rare (1%) HP:0001212
24 intellectual disability 33 HP:0001249
25 optic atrophy 33 HP:0000648
26 myopia 33 HP:0000545
27 anal atresia 33 HP:0002023
28 astigmatism 33 HP:0000483
29 generalized hypotonia 33 HP:0001290
30 hypoplasia of the corpus callosum 33 HP:0002079
31 esotropia 33 HP:0000565
32 cerebral visual impairment 33 HP:0100704
33 hypermetropia 33 HP:0000540
34 laryngotracheomalacia 33 HP:0008755
35 psychomotor retardation 33 HP:0025356

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
intellectual disability
cerebellar atrophy
speech delay
psychomotor retardation
dystonia (in some patients)
more
Head And Neck Face:
retrognathia
short philtrum

Neurologic Peripheral Nervous System:
hyporeflexia

Head And Neck Mouth:
gingival hyperplasia

Skeletal Spine:
scoliosis

Head And Neck Eyes:
abnormal electroretinogram
deep-set eyes
hyperopia (in some patients)
astigmatism (in some patients)
esotropia (in some patients)
more
Muscle Soft Tissue:
hypotonia

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

Clinical features from OMIM:

616875

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 30 EMC1

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

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

42
Eye

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

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

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

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

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

76
# Symbol AA change Variation ID SNP ID
1 EMC1 p.Thr82Met VAR_076915 rs869320625
2 EMC1 p.Gly868Arg VAR_076918 rs869320626

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EMC1 NM_015047.2(EMC1): c.2619_2622delTCCT (p.Pro874Argfs) deletion Likely pathogenic rs869320624 GRCh37 Chromosome 1, 19547308: 19547311
2 EMC1 NM_015047.2(EMC1): c.2619_2622delTCCT (p.Pro874Argfs) deletion Likely pathogenic rs869320624 GRCh38 Chromosome 1, 19220814: 19220817
3 EMC1 NM_015047.2(EMC1): c.2602G> A (p.Gly868Arg) single nucleotide variant Uncertain significance rs869320626 GRCh37 Chromosome 1, 19547328: 19547328
4 EMC1 NM_015047.2(EMC1): c.2602G> A (p.Gly868Arg) single nucleotide variant Uncertain significance rs869320626 GRCh38 Chromosome 1, 19220834: 19220834
5 EMC1 NM_015047.2(EMC1): c.1411G> C (p.Gly471Arg) single nucleotide variant Uncertain significance rs879253819 GRCh37 Chromosome 1, 19561645: 19561645
6 EMC1 NM_015047.2(EMC1): c.1411G> C (p.Gly471Arg) single nucleotide variant Uncertain significance rs879253819 GRCh38 Chromosome 1, 19235151: 19235151
7 EMC1 NM_015047.2(EMC1): c.245C> T (p.Thr82Met) single nucleotide variant Conflicting interpretations of pathogenicity rs869320625 GRCh37 Chromosome 1, 19570485: 19570485
8 EMC1 NM_015047.2(EMC1): c.245C> T (p.Thr82Met) single nucleotide variant Conflicting interpretations of pathogenicity rs869320625 GRCh38 Chromosome 1, 19243991: 19243991

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
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17 EFO
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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