MCID: ENC048
MIFTS: 19

Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy

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

Aliases & Classifications for Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy

MalaCards integrated aliases for Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy:

Name: Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy 57 75 29 6 40
Peamo 57 75
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
infantile onset


HPO:

32
encephalopathy, progressive, with amyotrophy and optic atrophy:
Onset and clinical course infantile onset progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy

OMIM : 57 PEAMO is a severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. Most affected individuals are unable to or lose the ability to sit and show distal amyotrophy and weakness of all 4 limbs. The patients are cognitively impaired and unable to speak or have severe dysarthria. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy (summary by Sferra et al., 2016). (617207)

MalaCards based summary : Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy, is also known as peamo. An important gene associated with Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy is TBCE (Tubulin Folding Cofactor E). Related phenotypes are optic atrophy and intellectual disability

UniProtKB/Swiss-Prot : 75 Encephalopathy, progressive, with amyotrophy and optic atrophy: An autosomal recessive, progressive, neurodegenerative encephalopathy with onset in infancy. Affected individuals manifest delayed psychomotor development, severe hypotonia, motor regression, spinal muscular atrophy, distal amyotrophy and weakness of all limbs, and intellectual disability of variable severity. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy.

Related Diseases for Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy

Symptoms & Phenotypes for Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
dysarthria
spastic tetraplegia
cerebellar atrophy
encephalopathy
more
Head And Neck Eyes:
optic atrophy

Muscle Soft Tissue:
hypotonia, severe
distal amyotrophy, all four limbs
neurogenic pattern seen on emg
denervation atrophy seen on muscle biopsy

Endocrine Features:
no endocrine abnormalities

Skeletal Spine:
scoliosis

Growth Other:
normal growth

Neurologic Peripheral Nervous System:
axonal peripheral neuropathy


Clinical features from OMIM:

617207

Human phenotypes related to Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 optic atrophy 32 HP:0000648
2 intellectual disability 32 HP:0001249
3 seizures 32 occasional (7.5%) HP:0001250
4 ataxia 32 HP:0001251
5 dysarthria 32 HP:0001260
6 global developmental delay 32 HP:0001263
7 cerebellar atrophy 32 HP:0001272
8 encephalopathy 32 HP:0001298
9 hypoplasia of the corpus callosum 32 HP:0002079
10 spastic tetraplegia 32 HP:0002510
11 scoliosis 32 HP:0002650
12 peripheral axonal neuropathy 32 HP:0003477
13 severe muscular hypotonia 32 HP:0006829
14 spinal muscular atrophy 32 HP:0007269
15 foot dorsiflexor weakness 32 HP:0009027

Drugs & Therapeutics for Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy

Search Clinical Trials , NIH Clinical Center for Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy

Genetic Tests for Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy

Genetic tests related to Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy:

# Genetic test Affiliating Genes
1 Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy 29 TBCE

Anatomical Context for Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy

Publications for Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy

Variations for Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy

UniProtKB/Swiss-Prot genetic disease variations for Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy:

75
# Symbol AA change Variation ID SNP ID
1 TBCE p.Ile155Asn VAR_077878 rs780472451

ClinVar genetic disease variations for Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TBCE NM_001079515.2(TBCE): c.923delC (p.Leu309Terfs) deletion Pathogenic rs750781063 GRCh37 Chromosome 1, 235599883: 235599883
2 TBCE NM_001079515.2(TBCE): c.923delC (p.Leu309Terfs) deletion Pathogenic rs750781063 GRCh38 Chromosome 1, 235436568: 235436568
3 TBCE NM_001079515.2(TBCE): c.464T> A (p.Ile155Asn) single nucleotide variant Pathogenic rs780472451 GRCh38 Chromosome 1, 235427143: 235427143
4 TBCE NM_001079515.2(TBCE): c.464T> A (p.Ile155Asn) single nucleotide variant Pathogenic rs780472451 GRCh37 Chromosome 1, 235590458: 235590458
5 TBCE NM_003193.4(TBCE): c.332T> G (p.Val111Gly) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 235577894: 235577894
6 TBCE NM_003193.4(TBCE): c.332T> G (p.Val111Gly) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 235414579: 235414579

Expression for Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy

Search GEO for disease gene expression data for Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy.

Pathways for Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy

GO Terms for Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy

Sources for Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy

3 CDC
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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
35 ICD9CM
36 IUPHAR
37 KEGG
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42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
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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