NADGP
MCID: NRD027
MIFTS: 24

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 72 29 6
Nadgp 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


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) (Updated 20-May-2021)

MalaCards based summary : Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset, also known as nadgp, is related to paget disease of bone 3 and frontotemporal dementia and/or amyotrophic lateral sclerosis 3. An important gene associated with Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset is SQSTM1 (Sequestosome 1). Affiliated tissues include eye, bone and brain, and related phenotypes are hearing impairment and cerebellar atrophy

UniProtKB/Swiss-Prot : 72 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,...

Diseases related to Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 paget disease of bone 3 9.7 SQSTM1 MRNIP
2 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 9.7 SQSTM1 MRNIP
3 amyotrophic lateral sclerosis 3 9.7 SQSTM1 MRNIP
4 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.6 SQSTM1 MRNIP
5 amyotrophic lateral sclerosis 1 9.6 SQSTM1 MRNIP
6 pick disease of brain 9.5 SQSTM1 MRNIP

Graphical network of the top 20 diseases related to Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset:



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

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

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

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 occasional (7.5%) HP:0000365
2 cerebellar atrophy 31 occasional (7.5%) HP:0001272
3 urinary incontinence 31 occasional (7.5%) HP:0000020
4 hyperreflexia 31 HP:0001347
5 abnormal pyramidal sign 31 HP:0007256
6 nystagmus 31 HP:0000639
7 dysarthria 31 HP:0001260
8 tremor 31 HP:0001337
9 dysmetria 31 HP:0001310
10 mental deterioration 31 HP:0001268
11 dystonia 31 HP:0001332
12 dysdiadochokinesis 31 HP:0002075
13 gait ataxia 31 HP:0002066
14 oculomotor apraxia 31 HP:0000657
15 vertical supranuclear gaze palsy 31 HP:0000511
16 limb ataxia 31 HP:0002070

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
tremor
cognitive impairment
dysmetria
more
Genitourinary Bladder:
urinary incontinence (in some patients)

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

Head And Neck Ears:
hearing loss, mild (in some patients)

Clinical features from OMIM®:

617145 (Updated 20-May-2021)

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:

40
Eye, Bone, Brain

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

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

# Title Authors PMID Year
1
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy. 57 6
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 Name Type Significance ClinVarId dbSNP ID Position
1 SQSTM1 NM_003900.5(SQSTM1):c.309_310AG[1] (p.Glu104fs) Microsatellite Pathogenic 265781 rs886039781 GRCh37: 5:179250865-179250866
GRCh38: 5:179823865-179823866
2 SQSTM1 NM_003900.5(SQSTM1):c.286C>T (p.Arg96Ter) SNV Pathogenic 265782 rs886039782 GRCh37: 5:179250038-179250038
GRCh38: 5:179823038-179823038
3 SQSTM1 NM_003900.5(SQSTM1):c.2T>A (p.Met1Lys) SNV Pathogenic 265780 rs886039780 GRCh37: 5:179247938-179247938
GRCh38: 5:179820938-179820938
4 SQSTM1 NM_003900.5(SQSTM1):c.175dup (p.Arg59fs) Duplication Pathogenic 984628 GRCh37: 5:179248110-179248111
GRCh38: 5:179821110-179821111
5 MRNIP , SQSTM1 NM_016175.4(MRNIP):c.937G>T (p.Glu313Ter) SNV Uncertain significance 931366 GRCh37: 5:179264486-179264486
GRCh38: 5:179837486-179837486
6 SQSTM1 NM_003900.5(SQSTM1):c.1060_1061del (p.Gln354fs) Deletion Uncertain significance 976109 GRCh37: 5:179260677-179260678
GRCh38: 5:179833677-179833678

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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