NBIA3
MCID: NRD008
MIFTS: 44

Neurodegeneration with Brain Iron Accumulation 3 (NBIA3)

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

Aliases & Classifications for Neurodegeneration with Brain Iron Accumulation 3

MalaCards integrated aliases for Neurodegeneration with Brain Iron Accumulation 3:

Name: Neurodegeneration with Brain Iron Accumulation 3 58 12 26 76 13 15
Neuroferritinopathy 58 12 25 54 26 60 76 38 30 6 45 74
Ferritin-Related Neurodegeneration 12 54 26 60
Hereditary Ferritinopathy 12 25 26 60
Nbia3 58 12 26 76
Basal Ganglia Disease, Adult-Onset 58 26
Adult Basal Ganglia Disease 12 60
Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset 12
Neurodegeneration, with Brain Iron Accumulation, Type 3 41
Basal Ganglia Disease Adult-Onset 54
Adult-Onset Basal Ganglia Disease 76

Characteristics:

Orphanet epidemiological data:

60
neuroferritinopathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: elderly;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
progressive disorder
onset 13 to 63 years of age


HPO:

33
neurodegeneration with brain iron accumulation 3:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Penetrance is 100% [chinnery et al 2007]...

Classifications:



Summaries for Neurodegeneration with Brain Iron Accumulation 3

NIH Rare Diseases : 54 Neuroferritinopathy is a movement disorder caused by the gradual accumulation of iron in the basal ganglia of the brain. People with neuroferritinopathy have progressive problems with movement that begin at about age 40. These movement problems can include involuntary jerking motions (chorea), rhythmic shaking (tremor), difficulty coordinating movements (ataxia), or uncontrolled tensing of muscles (dystonia). Symptoms of the disorder may be more prominent on one side of the body. Affected individuals may also have difficulty swallowing (dysphagia) and speaking (dysarthria). Intelligence is generally unaffected, but some individuals develop a gradual decline in thinking and reasoning abilities (dementia). Personality changes such as reduced inhibitions and difficulty controlling emotions may also occur as the disorder progresses. Neuroferritinopathy is caused by mutations in the FTL gene. It is inherited in an autosomal dominant fashion.

MalaCards based summary : Neurodegeneration with Brain Iron Accumulation 3, also known as neuroferritinopathy, is related to neurodegeneration with brain iron accumulation and movement disease, and has symptoms including tremor, abnormality of extrapyramidal motor function and bradykinesia. An important gene associated with Neurodegeneration with Brain Iron Accumulation 3 is FTL (Ferritin Light Chain), and among its related pathways/superpathways is Ferroptosis. Affiliated tissues include brain, eye and cerebellum, and related phenotypes are chorea and spastic diplegia

Disease Ontology : 12 A neurodegeneration with brain iron accumulation that has material basis in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33.

Genetics Home Reference : 26 Neuroferritinopathy is a disorder in which iron gradually accumulates in the brain. Certain brain regions that help control movement (basal ganglia) are particularly affected. People with neuroferritinopathy have progressive problems with movement that begin at about age 40. These movement problems can include involuntary jerking motions (chorea), rhythmic shaking (tremor), difficulty coordinating movements (ataxia), or uncontrolled tensing of muscles (dystonia). Symptoms of the disorder may be more apparent on one side of the body than on the other. Affected individuals may also have difficulty swallowing (dysphagia) and speaking (dysarthria).

OMIM : 58 Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, cognitive involvement, and mode of inheritance is variable (review by Gregory et al., 2009). (606159)

UniProtKB/Swiss-Prot : 76 Neurodegeneration with brain iron accumulation 3: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by a variety of neurological signs including parkinsonism, ataxia, corticospinal signs, mild non-progressive cognitive deficit and episodic psychosis. It is linked with decreased serum ferritin levels.

GeneReviews: NBK1141

Related Diseases for Neurodegeneration with Brain Iron Accumulation 3

Diseases in the Neurodegeneration with Brain Iron Accumulation family:

Neurodegeneration with Brain Iron Accumulation 1 Neurodegeneration with Brain Iron Accumulation 2a
Neurodegeneration with Brain Iron Accumulation 5 Neurodegeneration with Brain Iron Accumulation 3
Neurodegeneration with Brain Iron Accumulation 2b Neurodegeneration with Brain Iron Accumulation 4
Neurodegeneration with Brain Iron Accumulation 6 Neurodegeneration with Brain Iron Accumulation 7
Neurodegeneration with Brain Iron Accumulation 8

Diseases related to Neurodegeneration with Brain Iron Accumulation 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 30.7 C19orf12 FA2H FTL PANK2 PLA2G6
2 movement disease 30.0 FTL PANK2
3 dystonia 29.3 C19orf12 FA2H FTL PANK2 PLA2G6
4 dystonia 12 10.1
5 tremor 10.1
6 basal ganglia disease 10.1
7 choreatic disease 10.0 FTL JPH3
8 kufor-rakeb syndrome 10.0 PANK2 PLA2G6
9 neurodegeneration with brain iron accumulation 4 9.8 C19orf12 PANK2 PLA2G6
10 neurodegeneration with brain iron accumulation 5 9.8 C19orf12 PANK2 PLA2G6
11 parkinson disease 15, autosomal recessive early-onset 9.8 C19orf12 PANK2 PLA2G6
12 3-methylglutaconic aciduria, type iii 9.7 C19orf12 FA2H
13 neurodegeneration with brain iron accumulation 2b 9.7 FA2H PANK2 PLA2G6
14 neurodegeneration with brain iron accumulation 2a 9.7 FA2H PANK2 PLA2G6
15 leukodystrophy, hypomyelinating, 2 9.7 FA2H JPH3 PANK2
16 neuroaxonal dystrophy 9.6 FA2H PANK2 PLA2G6
17 hereditary spastic paraplegia 9.6 C19orf12 FA2H PLA2G6
18 neurodegeneration with brain iron accumulation 6 9.5 C19orf12 DCAF17 PANK2 PLA2G6
19 aceruloplasminemia 9.5 FA2H FTL PANK2 PLA2G6
20 neurodegeneration with brain iron accumulation 1 9.3 C19orf12 FA2H JPH3 PANK2 PLA2G6

Graphical network of the top 20 diseases related to Neurodegeneration with Brain Iron Accumulation 3:



Diseases related to Neurodegeneration with Brain Iron Accumulation 3

Symptoms & Phenotypes for Neurodegeneration with Brain Iron Accumulation 3

Human phenotypes related to Neurodegeneration with Brain Iron Accumulation 3:

60 33 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chorea 60 33 hallmark (90%) Very frequent (99-80%) HP:0002072
2 spastic diplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001264
3 gait disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0001288
4 dysphonia 60 33 frequent (33%) Frequent (79-30%) HP:0001618
5 optic atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0000648
6 dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0001332
7 bradykinesia 60 33 frequent (33%) Frequent (79-30%) HP:0002067
8 retinal degeneration 60 33 frequent (33%) Frequent (79-30%) HP:0000546
9 orofacial dyskinesia 60 33 frequent (33%) Frequent (79-30%) HP:0002310
10 abnormality of eye movement 60 33 occasional (7.5%) Occasional (29-5%) HP:0000496
11 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
12 ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001251
13 dysphagia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002015
14 constipation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002019
15 developmental regression 60 33 occasional (7.5%) Occasional (29-5%) HP:0002376
16 hypotension 60 33 occasional (7.5%) Occasional (29-5%) HP:0002615
17 behavioral abnormality 60 33 occasional (7.5%) Occasional (29-5%) HP:0000708
18 dementia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000726
19 parkinsonism 60 33 occasional (7.5%) Occasional (29-5%) HP:0001300
20 language impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0002463
21 spasticity 60 33 Very frequent (99-80%) HP:0001257
22 emotional lability 33 HP:0000712
23 dysarthria 33 HP:0001260
24 tremor 33 HP:0001337
25 hyperreflexia 33 HP:0001347
26 dyskinesia 33 HP:0100660
27 abnormality of metabolism/homeostasis 33 HP:0001939
28 babinski sign 33 HP:0003487
29 rigidity 33 HP:0002063
30 neurodegeneration 33 HP:0002180
31 choreoathetosis 33 HP:0001266
32 blepharospasm 33 HP:0000643
33 writer's cramp 33 HP:0002356
34 disinhibition 33 HP:0000734
35 anarthria 33 HP:0002425
36 hypomimic face 33 HP:0000338
37 mutism 33 HP:0002300
38 micrographia 33 HP:0031908
39 decreased serum ferritin 33 HP:0012343
40 laryngeal dystonia 33 HP:0012049
41 abnormal cerebellum morphology 33 HP:0001317
42 subcortical dementia 33 HP:0007123
43 cavitation of the basal ganglia 33 HP:0007007

Symptoms via clinical synopsis from OMIM:

58
Neurologic Behavioral Psychiatric Manifestations:
emotional lability
disinhibition

Abdomen Gastrointestinal:
dysphagia

Skeletal Hands:
writer's cramp
micrographia

Respiratory Larynx:
laryngeal dystonia

Head And Neck Mouth:
palatal tremor

Neurologic Central Nervous System:
dysarthria
tremor
hyperreflexia
dysphonia
rigidity
more
Head And Neck Eyes:
blepharospasm

Laboratory Abnormalities:
decreased serum ferritin

Head And Neck Face:
hypomimia
orolingual dyskinesia
orofacial dystonia
oromandibular dyskinesia

Respiratory:
pharyngeal dystonia

Clinical features from OMIM:

606159

UMLS symptoms related to Neurodegeneration with Brain Iron Accumulation 3:


tremor, abnormality of extrapyramidal motor function, bradykinesia, muscle rigidity, cerebellar ataxia, cerebellar signs

Drugs & Therapeutics for Neurodegeneration with Brain Iron Accumulation 3

Search Clinical Trials , NIH Clinical Center for Neurodegeneration with Brain Iron Accumulation 3

Cochrane evidence based reviews: neuroferritinopathy

Genetic Tests for Neurodegeneration with Brain Iron Accumulation 3

Genetic tests related to Neurodegeneration with Brain Iron Accumulation 3:

# Genetic test Affiliating Genes
1 Neuroferritinopathy 30 FTL

Anatomical Context for Neurodegeneration with Brain Iron Accumulation 3

MalaCards organs/tissues related to Neurodegeneration with Brain Iron Accumulation 3:

42
Brain, Eye, Cerebellum

Publications for Neurodegeneration with Brain Iron Accumulation 3

Articles related to Neurodegeneration with Brain Iron Accumulation 3:

(show all 44)
# Title Authors Year
1
Novel Ferritin Light Chain Gene Mutation in a Korean Patient with Neuroferritinopathy. ( 30732435 )
2019
2
Structure, Function, Folding, and Aggregation of a Neuroferritinopathy-Related Ferritin Variant. ( 30986045 )
2019
3
Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management. ( 27022507 )
2016
4
FTL mutation in a Chinese pedigree with neuroferritinopathy. ( 27158664 )
2016
5
A novel neuroferritinopathy mouse model (FTL 498InsTC) shows progressive brain iron dysregulation, morphological signs of early neurodegeneration and motor coordination deficits. ( 25447222 )
2015
6
Behavioral characterization of mouse models of neuroferritinopathy. ( 25689865 )
2015
7
Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism. ( 25772441 )
2015
8
Cortical pencil lining in neuroferritinopathy: a diagnostic clue. ( 25832658 )
2015
9
Voxel-based analysis in neuroferritinopathy expands the phenotype and determines radiological correlates of disease severity. ( 26142024 )
2015
10
A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation. ( 24825732 )
2014
11
A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies. ( 24907184 )
2014
12
Neuroferritinopathy: iron in the brain. ( 24949097 )
2014
13
Early neuropsychiatry features in neuroferritinopathy. ( 23436236 )
2013
14
Case 193: Neuroferritinopathy--a brain iron accumulation and neurodegenerative disorder. ( 23610097 )
2013
15
Neuroferritinopathy. ( 24209436 )
2013
16
MRI findings in neuroferritinopathy. ( 21808735 )
2012
17
Neuroferritinopathy: a new inborn error of iron metabolism. ( 22278127 )
2012
18
Progressive brain iron accumulation in neuroferritinopathy measured by the thalamic T2* relaxation rate. ( 22499840 )
2012
19
Neuroferritinopathy: update on clinical features and pathogenesis. ( 22515742 )
2012
20
Neuroferritinopathy. ( 22818529 )
2012
21
The man who could not walk backward: an unusual presentation of neuroferritinopathy. ( 21294155 )
2011
22
Teaching NeuroImages: neuroferritinopathy. ( 22042801 )
2011
23
Oxidative stress and cell death in cells expressing L-ferritin variants causing neuroferritinopathy. ( 19781644 )
2010
24
A novel FTL insertion causing neuroferritinopathy. ( 20065344 )
2010
25
Dramatic response of facial stereotype/tic to tetrabenazine in the first reported cases of neuroferritinopathy in the United States. ( 20818611 )
2010
26
Abnormal iron metabolism in fibroblasts from a patient with the neurodegenerative disease hereditary ferritinopathy. ( 21067605 )
2010
27
Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation. ( 18854324 )
2009
28
A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: description of clinical features and implications for genotype-phenotype correlations. ( 19117339 )
2009
29
Neuroferritinopathy in a Japanese family with a duplication in the ferritin light chain gene. ( 18413574 )
2008
30
Preliminary observation of elevated levels of nanocrystalline iron oxide in the basal ganglia of neuroferritinopathy patients. ( 17097860 )
2007
31
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. ( 17142829 )
2007
32
Neuroferritinopathy. ( 17101456 )
2006
33
Characterization of the l-ferritin variant 460InsA responsible of a hereditary ferritinopathy disorder. ( 16822677 )
2006
34
p53-mediated apoptosis, neuroglobin overexpression, and globin deposits in a patient with hereditary ferritinopathy. ( 16825958 )
2006
35
Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy gene. ( 15390032 )
2005
36
Spectrum of movement disorders in neuroferritinopathy. ( 15390132 )
2005
37
Neuroferritinopathy: a neurodegenerative disorder associated with L-ferritin mutation. ( 15737889 )
2005
38
Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement. ( 16116125 )
2005
39
Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights. ( 15835264 )
2005
40
Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene. ( 15099026 )
2004
41
Neuroferritinopathy in a French family with late onset dominant dystonia. ( 12746423 )
2003
42
Palatal tremor and cognitive decline in neuroferritinopathy. ( 12082064 )
2002
43
Neuroferritinopathy: a window on the role of iron in neurodegeneration. ( 12547246 )
2002
44
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. ( 11438811 )
2001

Variations for Neurodegeneration with Brain Iron Accumulation 3

UniProtKB/Swiss-Prot genetic disease variations for Neurodegeneration with Brain Iron Accumulation 3:

76
# Symbol AA change Variation ID SNP ID
1 FTL p.Ala96Thr VAR_026633 rs104894685

ClinVar genetic disease variations for Neurodegeneration with Brain Iron Accumulation 3:

6 (show top 50) (show all 67)
# Gene Variation Type Significance SNP ID Assembly Location
1 FTL FTL, 1-BP INS, 460A insertion Pathogenic
2 FTL NM_000146.3(FTL): c.286G> A (p.Ala96Thr) single nucleotide variant Pathogenic rs104894685 GRCh37 Chromosome 19, 49469574: 49469574
3 FTL NM_000146.3(FTL): c.286G> A (p.Ala96Thr) single nucleotide variant Pathogenic rs104894685 GRCh38 Chromosome 19, 48966317: 48966317
4 FTL NM_000146.3(FTL): c.498_499dup (p.Phe167Serfs) duplication Pathogenic rs1114167274 GRCh37 Chromosome 19, 49469962: 49469963
5 FTL NM_000146.3(FTL): c.498_499dup (p.Phe167Serfs) duplication Pathogenic rs1114167274 GRCh38 Chromosome 19, 48966705: 48966706
6 FTL NM_000146.3(FTL): c.469_484dup16 (p.Leu162Argfs) duplication Pathogenic rs398124640 GRCh37 Chromosome 19, 49469933: 49469948
7 FTL NM_000146.3(FTL): c.469_484dup16 (p.Leu162Argfs) duplication Pathogenic rs398124640 GRCh38 Chromosome 19, 48966676: 48966691
8 FTL NM_000146.3(FTL): c.458dupA (p.His153Glnfs) duplication Pathogenic rs587776840 GRCh37 Chromosome 19, 49469922: 49469922
9 FTL NM_000146.3(FTL): c.458dupA (p.His153Glnfs) duplication Pathogenic rs587776840 GRCh38 Chromosome 19, 48966665: 48966665
10 FTL NM_000146.3(FTL): c.169G> A (p.Glu57Lys) single nucleotide variant Uncertain significance rs201241191 GRCh38 Chromosome 19, 48965836: 48965836
11 FTL NM_000146.3(FTL): c.169G> A (p.Glu57Lys) single nucleotide variant Uncertain significance rs201241191 GRCh37 Chromosome 19, 49469093: 49469093
12 FTL; GYS1 NM_000146.3(FTL): c.163T> C (p.Leu55=) single nucleotide variant Benign rs2230267 GRCh38 Chromosome 19, 48965830: 48965830
13 FTL; GYS1 NM_000146.3(FTL): c.163T> C (p.Leu55=) single nucleotide variant Benign rs2230267 GRCh37 Chromosome 19, 49469087: 49469087
14 FTL NM_000146.3(FTL): c.*8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs373178636 GRCh37 Chromosome 19, 49470000: 49470000
15 FTL NM_000146.3(FTL): c.*8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs373178636 GRCh38 Chromosome 19, 48966743: 48966743
16 FTL NM_000146.3(FTL): c.-46C> A single nucleotide variant Uncertain significance rs768457741 GRCh38 Chromosome 19, 48965462: 48965462
17 FTL NM_000146.3(FTL): c.-46C> A single nucleotide variant Uncertain significance rs768457741 GRCh37 Chromosome 19, 49468719: 49468719
18 FTL; GYS1 NM_002103.4(GYS1): c.*659C> T single nucleotide variant Conflicting interpretations of pathogenicity rs367578611 GRCh37 Chromosome 19, 49471886: 49471886
19 FTL; GYS1 NM_002103.4(GYS1): c.*659C> T single nucleotide variant Conflicting interpretations of pathogenicity rs367578611 GRCh38 Chromosome 19, 48968629: 48968629
20 FTL; GYS1 NM_002103.4(GYS1): c.*450G> A single nucleotide variant Likely benign rs3745693 GRCh37 Chromosome 19, 49472095: 49472095
21 FTL; GYS1 NM_002103.4(GYS1): c.*450G> A single nucleotide variant Likely benign rs3745693 GRCh38 Chromosome 19, 48968838: 48968838
22 FTL; GYS1 NM_002103.4(GYS1): c.1848C> T (p.Ala616=) single nucleotide variant Conflicting interpretations of pathogenicity rs145789213 GRCh37 Chromosome 19, 49473074: 49473074
23 FTL; GYS1 NM_002103.4(GYS1): c.1848C> T (p.Ala616=) single nucleotide variant Conflicting interpretations of pathogenicity rs145789213 GRCh38 Chromosome 19, 48969817: 48969817
24 FTL; GYS1 NM_002103.4(GYS1): c.1615G> A (p.Glu539Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs561646250 GRCh37 Chromosome 19, 49474215: 49474215
25 FTL; GYS1 NM_002103.4(GYS1): c.1615G> A (p.Glu539Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs561646250 GRCh38 Chromosome 19, 48970958: 48970958
26 FTL; GYS1 NM_002103.4(GYS1): c.*841A> G single nucleotide variant Likely benign rs75797604 GRCh38 Chromosome 19, 48968447: 48968447
27 FTL; GYS1 NM_002103.4(GYS1): c.*841A> G single nucleotide variant Likely benign rs75797604 GRCh37 Chromosome 19, 49471704: 49471704
28 FTL; GYS1 NM_002103.4(GYS1): c.2207G> A (p.Arg736His) single nucleotide variant Conflicting interpretations of pathogenicity rs367919986 GRCh37 Chromosome 19, 49472552: 49472552
29 FTL; GYS1 NM_002103.4(GYS1): c.2207G> A (p.Arg736His) single nucleotide variant Conflicting interpretations of pathogenicity rs367919986 GRCh38 Chromosome 19, 48969295: 48969295
30 FTL; GYS1 NM_002103.4(GYS1): c.2013C> T (p.Asp671=) single nucleotide variant Conflicting interpretations of pathogenicity rs5452 GRCh37 Chromosome 19, 49472746: 49472746
31 FTL; GYS1 NM_002103.4(GYS1): c.2013C> T (p.Asp671=) single nucleotide variant Conflicting interpretations of pathogenicity rs5452 GRCh38 Chromosome 19, 48969489: 48969489
32 FTL; GYS1 NM_002103.4(GYS1): c.1926G> A (p.Val642=) single nucleotide variant Benign/Likely benign rs5451 GRCh37 Chromosome 19, 49472833: 49472833
33 FTL; GYS1 NM_002103.4(GYS1): c.1926G> A (p.Val642=) single nucleotide variant Benign/Likely benign rs5451 GRCh38 Chromosome 19, 48969576: 48969576
34 FTL NM_000146.3(FTL): c.522C> T (p.His174=) single nucleotide variant Likely benign rs73046709 GRCh38 Chromosome 19, 48966729: 48966729
35 FTL NM_000146.3(FTL): c.522C> T (p.His174=) single nucleotide variant Likely benign rs73046709 GRCh37 Chromosome 19, 49469986: 49469986
36 FTL NM_000146.3(FTL): c.*24C> T single nucleotide variant Likely benign rs368083362 GRCh38 Chromosome 19, 48966759: 48966759
37 FTL NM_000146.3(FTL): c.*24C> T single nucleotide variant Likely benign rs368083362 GRCh37 Chromosome 19, 49470016: 49470016
38 FTL; GYS1 NM_002103.4(GYS1): c.*725C> T single nucleotide variant Benign/Likely benign rs1042265 GRCh37 Chromosome 19, 49471820: 49471820
39 FTL; GYS1 NM_002103.4(GYS1): c.*725C> T single nucleotide variant Benign/Likely benign rs1042265 GRCh38 Chromosome 19, 48968563: 48968563
40 FTL; GYS1 NM_002103.4(GYS1): c.*370A> C single nucleotide variant Conflicting interpretations of pathogenicity rs185366453 GRCh37 Chromosome 19, 49472175: 49472175
41 FTL; GYS1 NM_002103.4(GYS1): c.*370A> C single nucleotide variant Conflicting interpretations of pathogenicity rs185366453 GRCh38 Chromosome 19, 48968918: 48968918
42 FTL; GYS1 NM_002103.4(GYS1): c.*301G> A single nucleotide variant Conflicting interpretations of pathogenicity rs147489255 GRCh37 Chromosome 19, 49472244: 49472244
43 FTL; GYS1 NM_002103.4(GYS1): c.*301G> A single nucleotide variant Conflicting interpretations of pathogenicity rs147489255 GRCh38 Chromosome 19, 48968987: 48968987
44 FTL NM_000146.3(FTL): c.-92T> C single nucleotide variant Uncertain significance rs886054563 GRCh38 Chromosome 19, 48965416: 48965416
45 FTL NM_000146.3(FTL): c.-92T> C single nucleotide variant Uncertain significance rs886054563 GRCh37 Chromosome 19, 49468673: 49468673
46 FTL NM_000146.3(FTL): c.73C> T (p.Leu25=) single nucleotide variant Likely benign rs201971200 GRCh38 Chromosome 19, 48965580: 48965580
47 FTL NM_000146.3(FTL): c.73C> T (p.Leu25=) single nucleotide variant Likely benign rs201971200 GRCh37 Chromosome 19, 49468837: 49468837
48 FTL NM_000146.3(FTL): c.*131A> T single nucleotide variant Uncertain significance rs374919004 GRCh38 Chromosome 19, 48966866: 48966866
49 FTL NM_000146.3(FTL): c.*131A> T single nucleotide variant Uncertain significance rs374919004 GRCh37 Chromosome 19, 49470123: 49470123
50 FTL; GYS1 NM_002103.4(GYS1): c.*1113_*1116delAGTG deletion Conflicting interpretations of pathogenicity rs148396922 GRCh38 Chromosome 19, 48968172: 48968175

Expression for Neurodegeneration with Brain Iron Accumulation 3

Search GEO for disease gene expression data for Neurodegeneration with Brain Iron Accumulation 3.

Pathways for Neurodegeneration with Brain Iron Accumulation 3

Pathways related to Neurodegeneration with Brain Iron Accumulation 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.23 FTL FTMT

GO Terms for Neurodegeneration with Brain Iron Accumulation 3

Cellular components related to Neurodegeneration with Brain Iron Accumulation 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.92 C19orf12 FTMT PANK2 PLA2G6

Biological processes related to Neurodegeneration with Brain Iron Accumulation 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 memory GO:0007613 9.26 JPH3 PLA2G6
2 cellular iron ion homeostasis GO:0006879 9.16 FTL FTMT
3 iron ion transport GO:0006826 8.96 FTL FTMT
4 intracellular sequestering of iron ion GO:0006880 8.62 FTL FTMT

Molecular functions related to Neurodegeneration with Brain Iron Accumulation 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.33 FA2H FTL FTMT
2 ferrous iron binding GO:0008198 9.26 FTL FTMT
3 ferric iron binding GO:0008199 8.96 FTL FTMT
4 ferroxidase activity GO:0004322 8.62 FTL FTMT

Sources for Neurodegeneration with Brain Iron Accumulation 3

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