PEAMO
MCID: ENC048
MIFTS: 21

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 58 76 30 6 41
Peamo 58 76
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
infantile onset


HPO:

33
encephalopathy, progressive, with amyotrophy and optic atrophy:
Onset and clinical course infantile onset progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy

OMIM : 58 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). Affiliated tissues include eye, and related phenotypes are progressive encephalopathy and distal amyotrophy

UniProtKB/Swiss-Prot : 76 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

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

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive encephalopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0002448
2 distal amyotrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003693
3 spastic ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002497
4 spinal muscular atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0007269
5 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
6 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
7 developmental regression 60 33 frequent (33%) Frequent (79-30%) HP:0002376
8 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
9 cerebellar atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0001272
10 foot dorsiflexor weakness 60 33 frequent (33%) Frequent (79-30%) HP:0009027
11 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
12 hypoplasia of the corpus callosum 60 33 frequent (33%) Frequent (79-30%) HP:0002079
13 peripheral axonal neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0003477
14 difficulty standing 60 33 frequent (33%) Frequent (79-30%) HP:0003698
15 emg: chronic denervation signs 60 33 frequent (33%) Frequent (79-30%) HP:0003444
16 seizures 60 33 occasional (7.5%) Very rare (<4-1%) HP:0001250
17 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
18 optic atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000648
19 spastic tetraparesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001285
20 anarthria 60 33 occasional (7.5%) Occasional (29-5%) HP:0002425
21 progressive spastic paraparesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0007199
22 iron accumulation in substantia nigra 60 33 occasional (7.5%) Occasional (29-5%) HP:0012678
23 ataxia 33 HP:0001251
24 spastic tetraplegia 33 HP:0002510
25 growth delay 60 Excluded (0%)
26 hypoparathyroidism 60 Excluded (0%)
27 severe muscular hypotonia 33 HP:0006829
28 encephalopathy 33 HP:0001298

Symptoms via clinical synopsis from OMIM:

58
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

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 30 TBCE

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

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

42
Eye

Publications for Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy

Articles related to Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy:

# Title Authors Year
1
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy. ( 27666369 )
2016

Variations for Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy

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

76
# 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 rs1553336397 GRCh37 Chromosome 1, 235577894: 235577894
6 TBCE NM_003193.4(TBCE): c.332T> G (p.Val111Gly) single nucleotide variant Likely pathogenic rs1553336397 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

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75 UMLS via Orphanet
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