MCID: CRB165
MIFTS: 22

Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Fetal 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 short upper lip and gingival overgrowth

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