NADGP
MCID: NRD027
MIFTS: 17

Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset (NADGP)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy,...

MalaCards integrated aliases for Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset:

Name: Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset 58 76 30 6
Nadgp 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset between 7 and 15 years of age
many patients become wheelchair-bound as young adults


HPO:

33
neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy,...

OMIM : 58 Childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy is an autosomal recessive progressive disorder characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades. Additional features include dysarthria, dystonia, and athetoid movements. Some patients may become wheelchair-bound as young adults (summary by Haack et al., 2016). (617145)

MalaCards based summary : Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset, is also known as nadgp. An important gene associated with Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset is SQSTM1 (Sequestosome 1). Affiliated tissues include eye, and related phenotypes are hearing impairment and cerebellar atrophy

UniProtKB/Swiss-Prot : 76 Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset: A neurodegenerative disorder characterized by gait abnormalities, ataxia, dysarthria, dystonia, vertical gaze palsy, and cognitive decline. Disease onset is in childhood or adolescence. NADGP transmission pattern is consistent with autosomal recessive inheritance.

Related Diseases for Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy,...

Symptoms & Phenotypes for Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy,...

Human phenotypes related to Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 33 occasional (7.5%) HP:0000365
2 cerebellar atrophy 33 occasional (7.5%) HP:0001272
3 urinary incontinence 33 occasional (7.5%) HP:0000020
4 nystagmus 33 HP:0000639
5 dysarthria 33 HP:0001260
6 tremor 33 HP:0001337
7 hyperreflexia 33 HP:0001347
8 abnormal pyramidal sign 33 HP:0007256
9 gait ataxia 33 HP:0002066
10 limb ataxia 33 HP:0002070
11 dysmetria 33 HP:0001310
12 dystonia 33 HP:0001332
13 mental deterioration 33 HP:0001268
14 dysdiadochokinesis 33 HP:0002075
15 oculomotor apraxia 33 HP:0000657
16 vertical supranuclear gaze palsy 33 HP:0000511

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
oculomotor apraxia
vertical gaze palsy
saccadic eye pursuit

Genitourinary Bladder:
urinary incontinence (in some patients)

Neurologic Central Nervous System:
dysarthria
tremor
hyperreflexia
cognitive impairment
gait ataxia
more
Head And Neck Ears:
hearing loss, mild (in some patients)

Clinical features from OMIM:

617145

Drugs & Therapeutics for Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy,...

Search Clinical Trials , NIH Clinical Center for Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset

Genetic Tests for Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy,...

Genetic tests related to Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset:

# Genetic test Affiliating Genes
1 Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset 30 SQSTM1

Anatomical Context for Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy,...

MalaCards organs/tissues related to Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset:

42
Eye

Publications for Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy,...

Articles related to Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset:

# Title Authors Year
1
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy. ( 27545679 )
2016

Variations for Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy,...

ClinVar genetic disease variations for Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SQSTM1 NM_003900.4(SQSTM1): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs886039780 GRCh38 Chromosome 5, 179820938: 179820938
2 SQSTM1 NM_003900.4(SQSTM1): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs886039780 GRCh37 Chromosome 5, 179247938: 179247938
3 SQSTM1 NM_003900.4(SQSTM1): c.311_312del (p.Glu104Valfs) deletion Pathogenic rs886039781 GRCh38 Chromosome 5, 179823867: 179823868
4 SQSTM1 NM_003900.4(SQSTM1): c.311_312del (p.Glu104Valfs) deletion Pathogenic rs886039781 GRCh37 Chromosome 5, 179250867: 179250868
5 SQSTM1 NM_001142298.1(SQSTM1): c.34C> T (p.Arg12Ter) single nucleotide variant Pathogenic rs886039782 GRCh38 Chromosome 5, 179823038: 179823038
6 SQSTM1 NM_001142298.1(SQSTM1): c.34C> T (p.Arg12Ter) single nucleotide variant Pathogenic rs886039782 GRCh37 Chromosome 5, 179250038: 179250038

Expression for Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy,...

Search GEO for disease gene expression data for Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset.

Pathways for Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy,...

GO Terms for Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy,...

Sources for Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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