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

About this section

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

Name: Neurodegeneration with Optic Atrophy, Childhood Onset 52
Neurodegeneration with Optic Atrophy, Childhood-Onset 52 70 27 68
Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome 54
 
Spastic Paraplegia 79, Autosomal Recessive 70
Ndgoa 70
Spg79 70

Characteristics:

Orphanet epidemiological data:

54
early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

64
neurodegeneration with optic atrophy, childhood onset:
Inheritance: autosomal recessive inheritance
Onset and clinical course: progressive

Classifications:



External Ids:

OMIM52 615491
Orphanet54 ORPHA352654
ICD10 via Orphanet31 G31.8
MedGen37 C3809665
MeSH39 D015418

Summaries for Neurodegeneration with Optic Atrophy, Childhood Onset

About this section
UniProtKB/Swiss-Prot:70 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 cerebellar ataxia, cerebellar ataxia and myokymia. 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:52 615491

Related Diseases for Neurodegeneration with Optic Atrophy, Childhood Onset

About this section

Symptoms & Phenotypes for Neurodegeneration with Optic Atrophy, Childhood Onset

About this section

Symptoms by clinical synopsis from OMIM:

615491

Clinical features from OMIM:

615491

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

 64 (show all 12)
id Description HPO Frequency HPO Source Accession
1 progressive visual loss64 HP:0000529
2 nystagmus64 HP:0000639
3 optic atrophy64 HP:0000648
4 cerebellar atrophy64 HP:0001272
5 dysmetria64 HP:0001310
6 hyperreflexia64 HP:0001347
7 cerebral atrophy64 HP:0002059
8 neurodegeneration64 HP:0002180
9 myokymia64 HP:0002411
10 myotonia64 HP:0002486
11 head titubation64 HP:0002599
12 babinski sign64 HP:0003487

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


cerebellar ataxia, myokymia, head titubation

Drugs & Therapeutics for Neurodegeneration with Optic Atrophy, Childhood Onset

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

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

Genetic Tests for Neurodegeneration with Optic Atrophy, Childhood Onset

About this section

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

id Genetic test Affiliating Genes
1 Neurodegeneration with Optic Atrophy, Childhood-Onset27

Anatomical Context for Neurodegeneration with Optic Atrophy, Childhood Onset

About this section

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

36
Eye

Publications for Neurodegeneration with Optic Atrophy, Childhood Onset

About this section

Variations for Neurodegeneration with Optic Atrophy, Childhood Onset

About this section

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

70
id Symbol AA change Variation ID SNP ID
1UCHL1p.Glu7AlaVAR_070875rs397515634
2UCHL1p.Arg178GlnVAR_078119
3UCHL1p.Ala216AspVAR_078120

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1UCHL1NM_ 004181.4(UCHL1): c.533G> A (p.Arg178Gln)SNVPathogenicrs768996179GRCh37Chr 4, 41266126: 41266126
2UCHL1NM_ 004181.4(UCHL1): c.647C> A (p.Ala216Asp)SNVPathogenicrs1057519600GRCh38Chr 4, 41268048: 41268048
3UCHL1NM_ 004181.4(UCHL1): c.20A> C (p.Glu7Ala)SNVPathogenicrs397515634GRCh37Chr 4, 41259013: 41259013

Expression for genes affiliated with Neurodegeneration with Optic Atrophy, Childhood Onset

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

Pathways for genes affiliated with Neurodegeneration with Optic Atrophy, Childhood Onset

About this section

GO Terms for genes affiliated with Neurodegeneration with Optic Atrophy, Childhood Onset

About this section

Sources for Neurodegeneration with Optic Atrophy, Childhood Onset

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet