SPG79
MCID: NRD013
MIFTS: 19

Neurodegeneration with Optic Atrophy, Childhood Onset (SPG79) malady

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

Aliases & Classifications for Neurodegeneration with Optic Atrophy, Childhood Onset

Aliases & Descriptions for Neurodegeneration with Optic Atrophy, Childhood Onset:

Name: Neurodegeneration with Optic Atrophy, Childhood Onset 54
Neurodegeneration with Optic Atrophy, Childhood-Onset 54 66 29 69
Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome 56
Spastic Paraplegia 79, Autosomal Recessive 66
Ndgoa 66
Spg79 66

Characteristics:

Orphanet epidemiological data:

56
early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

32
neurodegeneration with optic atrophy, childhood onset:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



External Ids:

OMIM 54 615491
Orphanet 56 ORPHA352654
ICD10 via Orphanet 34 G31.8
MedGen 40 C3809665
MeSH 42 D015418

Summaries for Neurodegeneration with Optic Atrophy, Childhood Onset

UniProtKB/Swiss-Prot : 66 Spastic paraplegia 79, autosomal recessive: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG79 is characterized by childhood onset blindness, cerebellar ataxia, nystagmus, dorsal column dysfunction, and spasticity with upper motor neuron dysfunction.

MalaCards based summary : Neurodegeneration with Optic Atrophy, Childhood Onset, is also known as neurodegeneration with optic atrophy, childhood-onset, and has symptoms including myokymia, head titubation and nystagmus. An important gene associated with Neurodegeneration with Optic Atrophy, Childhood Onset is UCHL1 (Ubiquitin C-Terminal Hydrolase L1). Affiliated tissues include eye.

Description from OMIM: 615491

Related Diseases for Neurodegeneration with Optic Atrophy, Childhood Onset

Symptoms & Phenotypes for Neurodegeneration with Optic Atrophy, Childhood Onset

Symptoms by clinical synopsis from OMIM:

615491

Clinical features from OMIM:

615491

Human phenotypes related to Neurodegeneration with Optic Atrophy, Childhood Onset:

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 myokymia 32 HP:0002411
2 head titubation 32 HP:0002599
3 nystagmus 32 HP:0000639
4 hyperreflexia 32 HP:0001347
5 optic atrophy 32 HP:0000648
6 myotonia 32 HP:0002486
7 progressive visual loss 32 HP:0000529
8 babinski sign 32 HP:0003487
9 dysmetria 32 HP:0001310
10 neurodegeneration 32 HP:0002180
11 cerebellar atrophy 32 HP:0001272
12 cerebral atrophy 32 HP:0002059

UMLS symptoms related to Neurodegeneration with Optic Atrophy, Childhood Onset:


cerebellar ataxia, myokymia, head titubation

Drugs & Therapeutics for Neurodegeneration with Optic Atrophy, Childhood Onset

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Neurodegeneration with Optic Atrophy, Childhood Onset

Genetic Tests for Neurodegeneration with Optic Atrophy, Childhood Onset

Genetic tests related to Neurodegeneration with Optic Atrophy, Childhood Onset:

id Genetic test Affiliating Genes
1 Neurodegeneration with Optic Atrophy, Childhood-Onset 29

Anatomical Context for Neurodegeneration with Optic Atrophy, Childhood Onset

MalaCards organs/tissues related to Neurodegeneration with Optic Atrophy, Childhood Onset:

39
Eye

Publications for Neurodegeneration with Optic Atrophy, Childhood Onset

Variations for Neurodegeneration with Optic Atrophy, Childhood Onset

UniProtKB/Swiss-Prot genetic disease variations for Neurodegeneration with Optic Atrophy, Childhood Onset:

66
id Symbol AA change Variation ID SNP ID
1 UCHL1 p.Glu7Ala VAR_070875 rs397515634
2 UCHL1 p.Arg178Gln VAR_078119
3 UCHL1 p.Ala216Asp VAR_078120

ClinVar genetic disease variations for Neurodegeneration with Optic Atrophy, Childhood Onset:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 UCHL1 NM_004181.4(UCHL1): c.20A> C (p.Glu7Ala) single nucleotide variant Pathogenic rs397515634 GRCh37 Chromosome 4, 41259013: 41259013
2 UCHL1 NM_004181.4(UCHL1): c.533G> A (p.Arg178Gln) single nucleotide variant Pathogenic rs768996179 GRCh37 Chromosome 4, 41266126: 41266126
3 UCHL1 NM_004181.4(UCHL1): c.647C> A (p.Ala216Asp) single nucleotide variant Pathogenic rs1057519600 GRCh38 Chromosome 4, 41268048: 41268048

Expression for Neurodegeneration with Optic Atrophy, Childhood Onset

Search GEO for disease gene expression data for Neurodegeneration with Optic Atrophy, Childhood Onset.

Pathways for Neurodegeneration with Optic Atrophy, Childhood Onset

GO Terms for Neurodegeneration with Optic Atrophy, Childhood Onset

Sources for Neurodegeneration with Optic Atrophy, Childhood Onset

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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