PEAMO
MCID: ENC048
MIFTS: 27

Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy (PEAMO)

Categories: Eye diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare 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, also known as peamo, is related to kenny-caffey syndrome and hypoparathyroidism-retardation-dysmorphism syndrome. An important gene associated with Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy is TBCE (Tubulin Folding Cofactor E). Affiliated tissues include eye, and related phenotypes are intellectual disability and seizures

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

Diseases related to Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 kenny-caffey syndrome 9.8 ENSG00000285053 TBCE
2 hypoparathyroidism-retardation-dysmorphism syndrome 9.8 ENSG00000285053 TBCE
3 spinal muscular atrophy 9.7 ENSG00000285053 TBCE

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 16)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 occasional (7.5%) HP:0001250
3 ataxia 32 HP:0001251
4 dysarthria 32 HP:0001260
5 scoliosis 32 HP:0002650
6 global developmental delay 32 HP:0001263
7 optic atrophy 32 HP:0000648
8 spastic tetraplegia 32 HP:0002510
9 cerebellar atrophy 32 HP:0001272
10 severe muscular hypotonia 32 HP:0006829
11 foot dorsiflexor weakness 32 HP:0009027
12 encephalopathy 32 HP:0001298
13 hypoplasia of the corpus callosum 32 HP:0002079
14 peripheral axonal neuropathy 32 HP:0003477
15 distal amyotrophy 32 HP:0003693
16 spinal muscular atrophy 32 HP:0007269

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

MalaCards organs/tissues related to Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy:

41
Eye

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

Cellular components related to Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.16 ENSG00000285053 TBCE
2 microtubule GO:0005874 8.96 ENSG00000285053 TBCE
3 ribosome GO:0005840 8.62 ENSG00000285053 TBCE

Biological processes related to Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.26 ENSG00000285053 TBCE
2 protein folding GO:0006457 9.16 ENSG00000285053 TBCE
3 mitotic spindle organization GO:0007052 8.96 ENSG00000285053 TBCE
4 post-chaperonin tubulin folding pathway GO:0007023 8.62 ENSG00000285053 TBCE

Molecular functions related to Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of ribosome GO:0003735 8.96 ENSG00000285053 TBCE
2 chaperone binding GO:0051087 8.62 ENSG00000285053 TBCE

Sources for Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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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