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 57 75 29 6
Cavipmr 57 75
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome 59
Atrophy, Cerebellar, Visual Impairment, Psychomotor Retardation 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
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 : 75 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 hypertelorism and intellectual disability

Description from OMIM: 616875

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

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

Symptoms via clinical synopsis from OMIM:

57
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
cortical visual impairment
deep-set eyes
hyperopia (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

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

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

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:

41
Eye

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

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

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

75
# 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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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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