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NBIA3
MCID: NRD008
MIFTS: 56

Neurodegeneration with Brain Iron Accumulation 3 (NBIA3)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Neurodegeneration with Brain Iron Accumulation 3

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MalaCards integrated aliases for Neurodegeneration with Brain Iron Accumulation 3:

Name: Neurodegeneration with Brain Iron Accumulation 3 57 11 42 73 12 14
Neuroferritinopathy 57 11 24 19 42 58 73 28 5 43 71 75
Ferritin-Related Neurodegeneration 11 19 42 58
Hereditary Ferritinopathy 11 24 42 58
Nbia3 57 11 42 73
Basal Ganglia Disease, Adult-Onset 57 42
Adult Basal Ganglia Disease 11 58
Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset 11
Neurodegeneration, with Brain Iron Accumulation, Type 3 38
Basal Ganglia Disease Adult-Onset 19
Adult-Onset Basal Ganglia Disease 73

Characteristics:


Inheritance:

Neurodegeneration with Brain Iron Accumulation 3: Autosomal dominant 57
Neuroferritinopathy: Autosomal dominant 58

Prevelance:

Neuroferritinopathy: <1/1000000 (Worldwide) 58

Age Of Onset:

Neuroferritinopathy: Adult 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable phenotype
progressive disorder
onset 13 to 63 years of age


HPO:

30
neurodegeneration with brain iron accumulation 3:
Onset and clinical course progressive


GeneReviews:

24
Penetrance Penetrance is 100% [chinnery et al 2007].

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Muscle diseases Mental diseases Eye diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Sources

Summaries for Neurodegeneration with Brain Iron Accumulation 3

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GARD: 19 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 genetic changes 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 choreoacanthocytosis 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 are Transport of inorganic cations/anions and amino acids/oligopeptides and Glucose / Energy Metabolism. The drug Iron has been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and cortex, and related phenotypes are decreased circulating ferritin concentration and emotional lability

MedlinePlus Genetics: 42 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).Intelligence is unaffected in most people with neuroferritinopathy, 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.

OMIM®: 57 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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits.

Disease Ontology: 11 A neurodegeneration with brain iron accumulation that has material basis in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33.

Wikipedia: 75 Neuroferritinopathy is a genetic neurodegenerative disorder characterized by the accumulation of iron in... more...

GeneReviews: NBK1141
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Related Diseases for Neurodegeneration with Brain Iron Accumulation 3

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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 top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 choreoacanthocytosis 30.1 PANK2 PANK1 JPH3
2 movement disease 30.0 WDR45 PLA2G6 PANK2 PANK1 FTL CP
3 choreatic disease 29.8 PANK2 JPH3 FXN FTL CP
4 parkinsonism 29.7 WDR45 PLA2G6 PANK2 FTL COASY C19orf12
5 hemosiderosis 29.5 SLC11A2 CP
6 iron metabolism disease 29.4 SLC11A2 PANK2 IREB2 FTL CP ACO1
7 dystonia 29.0 WDR45 PLA2G6 PANK2 PANK1 IREB2 FTL
8 neurodegeneration with brain iron accumulation 2a 28.7 WDR45 PLA2G6 PANK2 PANK1 FTL FA2H
9 neurodegeneration with brain iron accumulation 1 28.6 WDR45 SLC11A2 PLA2G6 PANK2 PANK1 FTL
10 neurodegeneration with brain iron accumulation 2b 28.3 WDR45 PLA2G6 PANK2 PANK1 GTPBP2 FTL
11 parkinson disease, late-onset 28.1 SLC11A2 PLA2G6 IREB2 FXN CP ATP13A2
12 neurodegeneration with brain iron accumulation 27.4 WDR45 SLC11A2 PLA2G6 PANK2 PANK1 JPH3
13 aceruloplasminemia 26.2 WDR45 SLC11A2 PLA2G6 PANK2 PANK1 IREB2
14 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
15 spastic paraplegia 43, autosomal recessive 10.2 FA2H C19orf12
16 hemochromatosis, type 5 10.2 FTL FTH1
17 macrophage activation syndrome 10.2 FTL FTH1
18 parkinsonism with spasticity, x-linked 10.1 WDR45 ATP13A2
19 parkinson disease 3, autosomal dominant 10.1 PLA2G6 ATP13A2
20 huntington disease 10.1
21 tremor 10.1
22 cerebral degeneration 10.1 PLA2G6 PANK2 FA2H
23 neurodegeneration with brain iron accumulation 6 10.1 PANK2 PANK1 COASY
24 adult syndrome 10.1
25 succinic semialdehyde dehydrogenase deficiency 10.1
26 spastic cerebral palsy 10.1 WDR45 FA2H
27 alcohol-related neurodevelopmental disorder 10.0 WDR45 PLA2G6 PANK2 C19orf12
28 down syndrome 10.0
29 basal ganglia disease 10.0
30 mcleod syndrome 10.0 PANK2 JPH3
31 neuronal ceroid lipofuscinosis 10.0 PLA2G6 PANK2 C19orf12 ATP13A2
32 hemochromatosis, type 4 10.0 SLC11A2 FTL
33 friedreich ataxia 2 9.9 FXN FTL
34 atransferrinemia 9.9 SLC11A2 FTH1
35 oromandibular dystonia 9.9 PLA2G6 PANK2 PANK1 COASY C19orf12
36 hemochromatosis, type 3 9.9 SLC11A2 PANK2 FTH1
37 alzheimer disease, familial, 1 9.9
38 dystonia 12 9.9
39 aging 9.9
40 iron overload 9.9
41 focal dystonia 9.9
42 tic disorder 9.9
43 neuroblastoma 9.9
44 dyt1 early-onset isolated dystonia 9.9
45 early-onset generalized limb-onset dystonia 9.9
46 neuroacanthocytosis 9.8 PANK2 PANK1 JPH3 CP
47 parkinson disease 15, autosomal recessive early-onset 9.8 WDR45 PLA2G6 PANK2 FA2H C19orf12 ATP13A2
48 spastic paraplegia 38, autosomal dominant 9.8 IREB2 FTL FTH1 ACO1
49 hypochromic microcytic anemia 9.7 SLC11A2 CP ACO1
50 huntington disease-like 2 9.7 PANK2 JPH3 FXN

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



Diseases related to Neurodegeneration with Brain Iron Accumulation 3
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Symptoms & Phenotypes for Neurodegeneration with Brain Iron Accumulation 3

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Human phenotypes related to Neurodegeneration with Brain Iron Accumulation 3:

30 58 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased circulating ferritin concentration 30 Very rare (1%) HP:0012343
2 emotional lability 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000712
3 dysarthria 58 30 Very rare (1%) Frequent (79-30%)
 HP:0001260
4 dysphonia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001618
5 dysphagia 58 30 Very rare (1%) Frequent (79-30%)
 HP:0002015
6 chorea 58 30 Very rare (1%) Frequent (79-30%)
 HP:0002072
7 difficulty walking 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002355
8 bradykinesia 58 30 Very rare (1%) Frequent (79-30%)
 HP:0002067
9 hypomimic face 58 30 Very rare (1%) Frequent (79-30%)
 HP:0000338
10 orofacial dyskinesia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002310
11 iron accumulation in substantia nigra 58 30 Frequent (33%) Frequent (79-30%)
 HP:0012678
12 abnormal putamen morphology 58 30 Frequent (33%) Frequent (79-30%)
 HP:0031982
13 t2 hypointense thalamus 58 30 Frequent (33%) Frequent (79-30%)
 HP:0012690
14 leg dystonia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0031959
15 eye of the tiger anomaly of globus pallidus 30 Frequent (33%) HP:0002454
16 abnormal dentate nucleus morphology 30 Frequent (33%) HP:0100321
17 blepharospasm 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000643
18 weak voice 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001621
19 brisk reflexes 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001348
20 writer's cramp 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002356
21 parkinsonism 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001300
22 caudate atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002340
23 lower limb hyperreflexia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002395
24 impaired smooth pursuit 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0007772
25 hyperreflexia in upper limbs 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0007350
26 loss of voice 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001686
27 arm dystonia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0031960
28 palatal tremor 30 Occasional (7.5%) HP:0010530
29 dystonia 58 30 Very rare (1%) Very frequent (99-80%)
 HP:0001332
30 psychosis 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0000709
31 babinski sign 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0003487
32 frontal lobe dementia 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0000727
33 resting tremor 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0002322
34 increased csf protein 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0002922
35 upgaze palsy 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0025331
36 subcortical dementia 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0007123
37 tremor 30 Very rare (1%) HP:0001337
38 spasticity 30 HP:0001257
39 hyperreflexia 30 HP:0001347
40 ataxia 30 HP:0001251
41 dyskinesia 30 HP:0100660
42 cognitive impairment 58 Very frequent (99-80%)
43 involuntary movements 58 Frequent (79-30%)
44 rigidity 30 HP:0002063
45 iron accumulation in brain 58 Very frequent (99-80%)
46 choreoathetosis 30 HP:0001266
47 disinhibition 30 HP:0000734
48 anarthria 30 HP:0002425
49 mutism 30 HP:0002300
50 abnormal thalamic mri signal intensity 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
tremor
dysphonia
rigidity
more
Abdomen Gastrointestinal:
dysphagia

Skeletal Hands:
writer's cramp
micrographia

Respiratory Larynx:
laryngeal dystonia

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

Neurologic Behavioral Psychiatric Manifestations:
emotional lability
disinhibition

Head And Neck Eyes:
blepharospasm

Laboratory Abnormalities:
decreased serum ferritin

Head And Neck Mouth:
palatal tremor

Respiratory:
pharyngeal dystonia

Clinical features from OMIM®:

606159 (Updated 08-Dec-2022)

UMLS symptoms related to Neurodegeneration with Brain Iron Accumulation 3:


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

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.14 ACO1 ATP13A2 C19orf12 COASY CP DCAF17
2 no effect GR00402-S-2 10.14 ACO1 C19orf12 COASY CP DCAF17 FA2H

MGI Mouse Phenotypes related to Neurodegeneration with Brain Iron Accumulation 3:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.28 ATP13A2 COASY CP FA2H FTH1 FTL
2 homeostasis/metabolism MP:0005376 10.24 ACO1 ATP13A2 COASY CP FA2H FTH1
3 cellular MP:0005384 10.1 ATP13A2 COASY CP DCAF17 FTH1 FXN
4 behavior/neurological MP:0005386 10.07 ATP13A2 COASY CP FA2H FTL FXN
5 liver/biliary system MP:0005370 9.95 CP FTH1 FTL IREB2 PANK1 PANK2
6 immune system MP:0005387 9.9 CP FTH1 FTL FXN GTPBP2 IREB2
7 vision/eye MP:0005391 9.56 ACO1 CP FA2H FTH1 GTPBP2 PANK2
8 mortality/aging MP:0010768 9.4 ACO1 COASY FTH1 FTL FXN GTPBP2
Sources

Drugs & Therapeutics for Neurodegeneration with Brain Iron Accumulation 3

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Drugs for Neurodegeneration with Brain Iron Accumulation 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved 7439-89-6 29936

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 TIRCON International NBIA (Neurodegeneration Associated With Brain Iron Accumulation) Patient Registry and Natural History Study Recruiting NCT05522374

Search NIH Clinical Center for Neurodegeneration with Brain Iron Accumulation 3

Cochrane evidence based reviews: neuroferritinopathy

Sources

Genetic Tests for Neurodegeneration with Brain Iron Accumulation 3

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Genetic tests related to Neurodegeneration with Brain Iron Accumulation 3:

# Genetic test Affiliating Genes
1 Neuroferritinopathy 28 FTL
Sources

Anatomical Context for Neurodegeneration with Brain Iron Accumulation 3

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Organs/tissues related to Neurodegeneration with Brain Iron Accumulation 3:

MalaCards : Brain, Cerebellum, Cortex, Caudate Nucleus, Globus Pallidus, Thalamus, Eye
ODiseA: Brain, Brain-Basal Ganglia, Brain-Basal Ganglia-Caudate Nucleus, Brain-Basal Ganglia-Putamen
Sources

Publications for Neurodegeneration with Brain Iron Accumulation 3

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Articles related to Neurodegeneration with Brain Iron Accumulation 3:

(show top 50) (show all 134)
# Title Authors PMID Year
1
Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation. 62 24 57 5
18854324 2009
2
Neuroferritinopathy in a Japanese family with a duplication in the ferritin light chain gene. 62 24 57 5
18413574 2008
3
Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement. 62 24 57 5
16116125 2005
4
Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene. 62 24 57 5
15099026 2004
5
Neuroferritinopathy in a French family with late onset dominant dystonia. 62 24 57 5
12746423 2003
6
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. 62 24 57 5
11438811 2001
7
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. 62 24 57
17142829 2007
8
Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms. 24 57
15173247 2004
9
Neuroferritinopathy: a new inborn error of iron metabolism. 62 57
22278127 2012
10
Conservative Iron Chelation for Neuroferritinopathy. 62 24
35996824 2022
11
Long-Term Neuroradiological and Clinical Evaluation of NBIA Patients Treated with a Deferiprone Based Iron-Chelation Therapy. 62 24
35956138 2022
12
A 3'-truncating FTL mutation associated with hypoferritinemia without neuroferritinopathy. 62 24
33548513 2021
13
Neuropathological and biochemical investigation of Hereditary Ferritinopathy cases with ferritin light chain mutation: Prominent protein aggregation in the absence of major mitochondrial or oxidative stress. 62 24
32464705 2021
14
Frequent Mutation in the FTL Gene Causing Hyperferritinemia Cataract Syndrome in Turkish Population Is c.-160A>G 5
30401656 2019
15
Novel Ferritin Light Chain Gene Mutation in a Korean Patient with Neuroferritinopathy. 62 24
30732435 2019
16
Neurodegeneration With Brain Iron Accumulation (NBIA) Syndromes Presenting With Late-Onset Craniocervical Dystonia: An Illustrative Case Series‎. 62 24
30838262 2017
17
Hyperferritinemia-cataract syndrome: Long-term ophthalmic observations in an Italian family. 5
26849797 2016
18
FTL mutation in a Chinese pedigree with neuroferritinopathy. 62 24
27158664 2016
19
A novel neuroferritinopathy mouse model (FTL 498InsTC) shows progressive brain iron dysregulation, morphological signs of early neurodegeneration and motor coordination deficits. 62 24
25447222 2015
20
Cortical pencil lining in neuroferritinopathy: a diagnostic clue. 62 24
25832658 2015
21
A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies. 62 24
24907184 2014
22
A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation. 62 24
24825732 2014
23
Hereditary hyperferritinaemia cataract syndrome. 5
24766965 2014
24
Early neuropsychiatry features in neuroferritinopathy. 62 24
23436236 2013
25
Case 193: Neuroferritinopathy--a brain iron accumulation and neurodegenerative disorder. 62 24
23610097 2013
26
Noncoding variation of the gene for ferritin light chain in hereditary and age-related cataract. 5
23592921 2013
27
Progressive brain iron accumulation in neuroferritinopathy measured by the thalamic T2* relaxation rate. 62 24
22499840 2012
28
Late-onset neurodegeneration with brain iron accumulation with diffusion tensor magnetic resonance imaging. 62 24
23275784 2012
29
An unusual gait following the discovery of a new disease. 62 24
21385964 2011
30
The man who could not walk backward: an unusual presentation of neuroferritinopathy. 62 24
21294155 2011
31
Dramatic response of facial stereotype/tic to tetrabenazine in the first reported cases of neuroferritinopathy in the United States. 62 24
20818611 2010
32
A novel FTL insertion causing neuroferritinopathy. 62 24
20065344 2010
33
A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: description of clinical features and implications for genotype-phenotype correlations. 62 24
19117339 2009
34
Clinical and genetic delineation of neurodegeneration with brain iron accumulation. 57
18981035 2009
35
T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. 62 24
18443312 2008
36
Preliminary observation of elevated levels of nanocrystalline iron oxide in the basal ganglia of neuroferritinopathy patients. 62 24
17097860 2007
37
Neuroferritinopathy. 62 24
17101456 2006
38
Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights. 62 24
15835264 2005
39
Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy gene. 62 24
15390032 2005
40
Spectrum of movement disorders in neuroferritinopathy. 62 24
15390132 2005
41
Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical presentations. 5
14662596 2003
42
Palatal tremor and cognitive decline in neuroferritinopathy. 62 24
12082064 2002
43
Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome. 5
11703332 2001
44
Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia-cataract syndrome. 5
10366790 1999
45
Hereditary hyperferritinemia cataract syndrome: a de novo mutation in the iron responsive element of the L-ferritin gene. 5
10366804 1999
46
Hereditary hyperferritinemia-cataract syndrome: two novel mutations in the L-ferritin iron-responsive element. 5
9414313 1998
47
A point mutation in the bulge of the iron-responsive element of the L ferritin gene in two families with the hereditary hyperferritinemia-cataract syndrome. 5
9414300 1998
48
Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract. 5
7493028 1995
49
Cerebellar atrophy does not increase susceptibility to carbamazepine toxicity. 57
8178620 1994
50
The interaction between the iron-responsive element binding protein and its cognate RNA is highly dependent upon both RNA sequence and structure. 5
8233801 1993
Sources

Variations for Neurodegeneration with Brain Iron Accumulation 3

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

5 (show top 50) (show all 106)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FTL NM_000146.4(FTL):c.286G>A (p.Ala96Thr) SNV Pathogenic
 16486 rs104894685 GRCh37: 19:49469574-49469574
GRCh38: 19:48966317-48966317
2 FTL NM_000146.4(FTL):c.-161C>T SNV Pathogenic
 16480 rs398124636 GRCh37: 19:49468604-49468604
GRCh38: 19:48965347-48965347
3 FTL NM_000146.4(FTL):c.-157G>A SNV Pathogenic
 647521 rs1600120873 GRCh37: 19:49468608-49468608
GRCh38: 19:48965351-48965351
4 FTL NM_000146.4(FTL):c.-164C>A SNV Pathogenic
 16481 rs398124637 GRCh37: 19:49468601-49468601
GRCh38: 19:48965344-48965344
5 FTL NM_000146.4(FTL):c.-168G>A SNV Pathogenic
 16476 rs398124635 GRCh37: 19:49468597-49468597
GRCh38: 19:48965340-48965340
6 FTL NM_000146.4(FTL):c.469_484dup (p.Leu162fs) DUP Pathogenic
 16488 rs398124640 GRCh37: 19:49469932-49469933
GRCh38: 19:48966675-48966676
7 FTL NM_000146.4(FTL):c.458dup (p.His153fs) DUP Pathogenic
 16489 rs587776840 GRCh37: 19:49469921-49469922
GRCh38: 19:48966664-48966665
8 FTL NM_000146.4(FTL):c.-167C>T SNV Pathogenic
 963917 rs2038438402 GRCh37: 19:49468598-49468598
GRCh38: 19:48965341-48965341
9 FTL NM_000146.4(FTL):c.-160A>G SNV Pathogenic
 16474 rs398124633 GRCh37: 19:49468605-49468605
GRCh38: 19:48965348-48965348
10 FTL NM_000146.4(FTL):c.-168G>T SNV Pathogenic
 16479 rs398124635 GRCh37: 19:49468597-49468597
GRCh38: 19:48965340-48965340
11 FTL NM_000146.4(FTL):c.460dup (p.Arg154fs) DUP Pathogenic
 1698387 GRCh37: 19:49469923-49469924
GRCh38: 19:48966666-48966667
12 FTL NM_000146.4(FTL):c.498_499dup (p.Phe167fs) MICROSAT Pathogenic
 16487 rs1114167274 GRCh37: 19:49469958-49469959
GRCh38: 19:48966701-48966702
13 FTL NM_000146.4(FTL):c.-166T>C SNV Likely Pathogenic
 1052512 GRCh37: 19:49468599-49468599
GRCh38: 19:48965342-48965342
14 FTL NM_000146.4(FTL):c.485_489dup (p.Glu164fs) MICROSAT Likely Pathogenic
 1320267 GRCh37: 19:49469940-49469941
GRCh38: 19:48966683-48966684
15 FTL NM_000146.4(FTL):c.*8C>T SNV Conflicting Interpretations Of Pathogenicity
 158603 rs373178636 GRCh37: 19:49470000-49470000
GRCh38: 19:48966743-48966743
16 FTL NM_000146.4(FTL):c.-186C>A SNV Uncertain Significance
 894089 rs981348025 GRCh37: 19:49468579-49468579
GRCh38: 19:48965322-48965322
17 FTL NM_000146.4(FTL):c.-173C>G SNV Uncertain Significance
 894090 rs1053572388 GRCh37: 19:49468592-49468592
GRCh38: 19:48965335-48965335
18 FTL NM_000146.4(FTL):c.-86C>T SNV Uncertain Significance
 894091 rs1319264120 GRCh37: 19:49468679-49468679
GRCh38: 19:48965422-48965422
19 FTL NM_000146.4(FTL):c.*76G>A SNV Uncertain Significance
 894125 rs2038463168 GRCh37: 19:49470068-49470068
GRCh38: 19:48966811-48966811
20 FTL NM_000146.4(FTL):c.376C>G (p.Leu126Val) SNV Uncertain Significance
 655682 rs775308103 GRCh37: 19:49469840-49469840
GRCh38: 19:48966583-48966583
21 FTL NC_000019.10:g.(?_48966261)_(48966755_?)del DEL Uncertain Significance
 659582 GRCh37: 19:49469518-49470012
GRCh38: 19:48966261-48966755
22 FTL NM_000146.4(FTL):c.194G>A (p.Arg65His) SNV Uncertain Significance
 534233 rs1555797038 GRCh37: 19:49469118-49469118
GRCh38: 19:48965861-48965861
23 FTL NM_000146.4(FTL):c.502G>T (p.Glu168Ter) SNV Uncertain Significance
 565863 rs768204975 GRCh37: 19:49469966-49469966
GRCh38: 19:48966709-48966709
24 FTL NM_000146.4(FTL):c.324C>T (p.Asn108=) SNV Uncertain Significance
 893263 rs754652110 GRCh37: 19:49469612-49469612
GRCh38: 19:48966355-48966355
25 FTL NM_000146.4(FTL):c.12G>C (p.Gln4His) SNV Uncertain Significance
 940706 rs753168179 GRCh37: 19:49468776-49468776
GRCh38: 19:48965519-48965519
26 FTL NM_000146.4(FTL):c.466G>A (p.Gly156Ser) SNV Uncertain Significance
 948940 rs151265703 GRCh37: 19:49469930-49469930
GRCh38: 19:48966673-48966673
27 FTL NM_000146.4(FTL):c.302T>C (p.Met101Thr) SNV Uncertain Significance
 960669 rs750964137 GRCh37: 19:49469590-49469590
GRCh38: 19:48966333-48966333
28 FTL NM_000146.4(FTL):c.261A>C (p.Glu87Asp) SNV Uncertain Significance
 1001552 rs762786833 GRCh37: 19:49469549-49469549
GRCh38: 19:48966292-48966292
29 FTL NM_000146.4(FTL):c.-148G>C SNV Uncertain Significance
 1009717 rs2038438657 GRCh37: 19:49468617-49468617
GRCh38: 19:48965360-48965360
30 FTL NM_000146.4(FTL):c.473C>T (p.Pro158Leu) SNV Uncertain Significance
 1017882 rs374486686 GRCh37: 19:49469937-49469937
GRCh38: 19:48966680-48966680
31 FTL NM_000146.4(FTL):c.178C>T (p.Arg60Cys) SNV Uncertain Significance
 1040858 rs2038446533 GRCh37: 19:49469102-49469102
GRCh38: 19:48965845-48965845
32 FTL NM_000146.4(FTL):c.155T>G (p.Phe52Cys) SNV Uncertain Significance
 1049905 GRCh37: 19:49469079-49469079
GRCh38: 19:48965822-48965822
33 FTL NM_000146.4(FTL):c.523G>T (p.Asp175Tyr) SNV Uncertain Significance
 1376747 GRCh37: 19:49469987-49469987
GRCh38: 19:48966730-48966730
34 FTL NM_000146.4(FTL):c.375+4C>T SNV Uncertain Significance
 1404702 GRCh37: 19:49469667-49469667
GRCh38: 19:48966410-48966410
35 FTL NM_000146.4(FTL):c.492G>T (p.Glu164Asp) SNV Uncertain Significance
 1436901 GRCh37: 19:49469956-49469956
GRCh38: 19:48966699-48966699
36 FTL NM_000146.4(FTL):c.218G>T (p.Arg73Leu) SNV Uncertain Significance
 1492226 GRCh37: 19:49469142-49469142
GRCh38: 19:48965885-48965885
37 FTL NM_000146.4(FTL):c.17G>A (p.Arg6His) SNV Uncertain Significance
 1348591 GRCh37: 19:49468781-49468781
GRCh38: 19:48965524-48965524
38 FTL NM_000146.4(FTL):c.139G>T (p.Gly47Cys) SNV Uncertain Significance
 1345550 GRCh37: 19:49469063-49469063
GRCh38: 19:48965806-48965806
39 FTL NM_000146.4(FTL):c.379T>C (p.Cys127Arg) SNV Uncertain Significance
 1512412 GRCh37: 19:49469843-49469843
GRCh38: 19:48966586-48966586
40 FTL NM_000146.4(FTL):c.-46C>A SNV Uncertain Significance
Uncertain Significance
 329785 rs768457741 GRCh37: 19:49468719-49468719
GRCh38: 19:48965462-48965462
41 FTL NC_000019.9:g.49468534C>T SNV Uncertain Significance
 1420487 GRCh37: 19:49468534-49468534
GRCh38: 19:48965277-48965277
42 FTL NM_000146.4(FTL):c.256G>C (p.Ala86Pro) SNV Uncertain Significance
 1399868 GRCh37: 19:49469544-49469544
GRCh38: 19:48966287-48966287
43 FTL NM_000146.4(FTL):c.-134A>T SNV Uncertain Significance
 1412025 GRCh37: 19:49468631-49468631
GRCh38: 19:48965374-48965374
44 FTL NM_000146.4(FTL):c.-177C>T SNV Uncertain Significance
 1415647 GRCh37: 19:49468588-49468588
GRCh38: 19:48965331-48965331
45 FTL NM_000146.4(FTL):c.247A>G (p.Lys83Glu) SNV Uncertain Significance
 1382272 GRCh37: 19:49469171-49469171
GRCh38: 19:48965914-48965914
46 FTL NM_000146.4(FTL):c.-51dup DUP Uncertain Significance
 1384520 GRCh37: 19:49468713-49468714
GRCh38: 19:48965456-48965457
47 FTL NM_000146.4(FTL):c.-184C>G SNV Uncertain Significance
 1406481 GRCh37: 19:49468581-49468581
GRCh38: 19:48965324-48965324
48 FTL NM_000146.4(FTL):c.-170T>C SNV Uncertain Significance
 1416345 GRCh37: 19:49468595-49468595
GRCh38: 19:48965338-48965338
49 FTL NM_000146.4(FTL):c.124G>A (p.Asp42Asn) SNV Uncertain Significance
 1463366 GRCh37: 19:49469048-49469048
GRCh38: 19:48965791-48965791
50 FTL NC_000019.9:g.49468520G>A SNV Uncertain Significance
 1464202 GRCh37: 19:49468520-49468520
GRCh38: 19:48965263-48965263

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

73
# Symbol AA change Variation ID SNP ID
1 FTL p.Ala96Thr VAR_026633 rs104894685

Sources

Expression for Neurodegeneration with Brain Iron Accumulation 3

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

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

# Super pathways Score Top Affiliating Genes
1
Transport of inorganic cations/anions and amino acids/oligopeptides 66
Show member pathways
 13.08 SLC11A2 IREB2 FTL FTH1 CP ATP13A2
2
Glucose / Energy Metabolism 3
12.29 SLC11A2 PANK1 IREB2 FTH1 CP ACO1
3
Insulin receptor recycling 66
Show member pathways
 11.87 ACO1 CP FTH1 FTL IREB2 SLC11A2
4
Autophagy 74
Show member pathways
 11.47 WDR45 PLA2G6 PANK2 GTPBP2 FTL FA2H
5
Ferroptosis 74
11.16 SLC11A2 IREB2 FTL FTH1 CP
6
HIF-2-alpha transcription factor network 61
10.91 SLC11A2 FXN
7
superpathway of coenzyme A biosynthesis III (mammals) 61
Show member pathways
 10.72 PANK2 PANK1 COASY
8
Iron metabolism in placenta 74
10.34 SLC11A2 IREB2 ACO1
Sources

GO Terms for Neurodegeneration with Brain Iron Accumulation 3

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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 10.03 SLC11A2 PLA2G6 PANK2 IREB2 FXN COASY
2 autolysosome GO:0044754 9.26 FTL FTH1
3 intracellular ferritin complex GO:0008043 8.92 FTL FTH1

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

# Name GO ID Score Top Affiliating Genes
1 response to iron ion GO:0010039 9.76 SLC11A2 FXN
2 iron ion homeostasis GO:0055072 9.76 CP FTL FXN IREB2 SLC11A2
3 intestinal absorption GO:0050892 9.73 IREB2 ACO1
4 coenzyme A biosynthetic process GO:0015937 9.73 PANK2 PANK1 COASY
5 copper ion transport GO:0006825 9.71 SLC11A2 CP
6 intracellular sequestering of iron ion GO:0006880 9.67 FTL FTH1
7 iron ion transport GO:0006826 9.65 SLC11A2 IREB2 FTL FTH1 CP
8 citrate metabolic process GO:0006101 9.62 IREB2 ACO1
9 cellular iron ion homeostasis GO:0006879 9.53 SLC11A2 IREB2 FXN FTL FTH1 CP

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

# Name GO ID Score Top Affiliating Genes
1 pantothenate kinase activity GO:0004594 9.67 PANK2 PANK1
2 ferrous iron binding GO:0008198 9.63 FXN FTL FTH1
3 iron-responsive element binding GO:0030350 9.62 IREB2 ACO1
4 aconitate hydratase activity GO:0003994 9.56 IREB2 ACO1
5 ferric iron binding GO:0008199 9.43 FXN FTL FTH1
6 ferroxidase activity GO:0004322 9.1 FXN FTH1 CP
Sources

Sources for Neurodegeneration with Brain Iron Accumulation 3

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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