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 57 75 29 6
Nadgp 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
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 : 57 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 nystagmus and dysarthria

UniProtKB/Swiss-Prot : 75 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,...

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 dysarthria 32 HP:0001260
3 tremor 32 HP:0001337
4 hyperreflexia 32 HP:0001347
5 hearing impairment 32 occasional (7.5%) HP:0000365
6 gait ataxia 32 HP:0002066
7 limb ataxia 32 HP:0002070
8 dysmetria 32 HP:0001310
9 dystonia 32 HP:0001332
10 mental deterioration 32 HP:0001268
11 dysdiadochokinesis 32 HP:0002075
12 cerebellar atrophy 32 occasional (7.5%) HP:0001272
13 urinary incontinence 32 occasional (7.5%) HP:0000020
14 oculomotor apraxia 32 HP:0000657
15 vertical supranuclear gaze palsy 32 HP:0000511
16 abnormal pyramidal sign 32 HP:0007256

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 29 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:

41
Eye

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

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_001142298.1(SQSTM1): c.59_60delAG (p.Glu20Valfs) deletion Pathogenic rs886039781 GRCh38 Chromosome 5, 179823867: 179823868
4 SQSTM1 NM_001142298.1(SQSTM1): c.59_60delAG (p.Glu20Valfs) 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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