PEAMO
MCID: ENC048
MIFTS: 22

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 74 29 6 40
Peamo 57 74
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome 59

Characteristics:

OMIM:

57
Miscellaneous:
infantile onset
progressive disorder

Inheritance:
autosomal recessive


HPO:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 617207
MeSH 44 D020271
Orphanet 59 ORPHA496756

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 spinal muscular atrophy and progressive encephalopathy

UniProtKB/Swiss-Prot : 74 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:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spinal muscular atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0007269
2 progressive encephalopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002448
3 distal amyotrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003693
4 spastic ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002497
5 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
6 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
7 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
8 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
9 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
10 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
11 foot dorsiflexor weakness 59 32 frequent (33%) Frequent (79-30%) HP:0009027
12 hypoplasia of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0002079
13 peripheral axonal neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0003477
14 difficulty standing 59 32 frequent (33%) Frequent (79-30%) HP:0003698
15 emg: chronic denervation signs 59 32 frequent (33%) Frequent (79-30%) HP:0003444
16 seizures 59 32 occasional (7.5%) Very rare (<4-1%) HP:0001250
17 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
18 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
19 spastic tetraparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001285
20 anarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0002425
21 progressive spastic paraparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0007199
22 iron accumulation in substantia nigra 59 32 occasional (7.5%) Occasional (29-5%) HP:0012678
23 ataxia 32 HP:0001251
24 spastic tetraplegia 32 HP:0002510
25 growth delay 59 Excluded (0%)
26 hypoparathyroidism 59 Excluded (0%)
27 severe muscular hypotonia 32 HP:0006829
28 encephalopathy 32 HP:0001298

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
dysarthria
spastic tetraplegia
spinal muscular atrophy
cerebellar atrophy
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 29 TBCE

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

Publications for Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy

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

# Title Authors PMID Year
1
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy. 8 71
27666369 2016
2
Progressive motor neuronopathy: a critical role of the tubulin chaperone TBCE in axonal tubulin routing from the Golgi apparatus. 8
17699660 2007
3
Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human motoneuron disease. 8
12446740 2002
4
A missense mutation in Tbce causes progressive motor neuronopathy in mice. 8
12389029 2002
5
A new mouse mutant with progressive motor neuronopathy. 8
2022963 1991

Variations for Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TBCE NM_001079515.3(TBCE): c.924del (p.Ser308_Leu309insTer) deletion Pathogenic rs750781063 1:235599883-235599883 1:235436568-235436568
2 TBCE NM_001079515.3(TBCE): c.464T> A (p.Ile155Asn) single nucleotide variant Pathogenic rs780472451 1:235590458-235590458 1:235427143-235427143
3 TBCE NM_001079515.3(TBCE): c.332T> G (p.Val111Gly) single nucleotide variant Likely pathogenic rs1553336397 1:235577894-235577894 1:235414579-235414579

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

74
# Symbol AA change Variation ID SNP ID
1 TBCE p.Ile155Asn VAR_077878 rs780472451

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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57 OMIM
58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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