NBIA3
MCID: NRD008
MIFTS: 54

Neurodegeneration with Brain Iron Accumulation 3 (NBIA3)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle 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 57 12 43 72 13 15
Neuroferritinopathy 57 12 25 20 43 58 72 36 29 6 44 70
Ferritin-Related Neurodegeneration 12 20 43 58
Hereditary Ferritinopathy 12 25 43 58
Nbia3 57 12 43 72
Basal Ganglia Disease, Adult-Onset 57 43
Adult Basal Ganglia Disease 12 58
Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset 12
Neurodegeneration, with Brain Iron Accumulation, Type 3 39
Basal Ganglia Disease Adult-Onset 20
Adult-Onset Basal Ganglia Disease 72

Characteristics:

Orphanet epidemiological data:

58
neuroferritinopathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: elderly;

OMIM®:

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

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


HPO:

31
neurodegeneration with brain iron accumulation 3:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


GeneReviews:

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

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Neurodegeneration with Brain Iron Accumulation 3

GARD : 20 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 hemosiderosis and choreoacanthocytosis, 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 Insulin receptor recycling and Glucose / Energy Metabolism. Affiliated tissues include brain, eye and cerebellum, and related phenotypes are decreased circulating ferritin concentration and emotional lability

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.

MedlinePlus Genetics : 43 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 20-May-2021)

KEGG : 36 Neuroferritinopathy is a rare autosomal dominant disease caused by mutations in the ferritin light chain (FTL) gene leading to abnormal excessive iron accumulation in the brain, predominantly in the basal ganglia. Clinically, the disease presents as a chorea and dystonia. Clinical presentation may also include extrapyramidal and pyramidal tract signs as well as cerebellar ataxia, dysautonomia, cognitive decline, and psychiatric symptoms.

UniProtKB/Swiss-Prot : 72 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 top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 hemosiderosis 29.9 SLC11A2 CP
2 choreoacanthocytosis 29.7 PANK2 PANK1 JPH3 FTL CP C19orf12
3 choreatic disease 29.7 PANK2 JPH3 FXN FTL CP C19orf12
4 movement disease 29.1 WDR45 PLA2G6 PANK2 PANK1 FTL FA2H
5 dystonia 28.9 WDR45 PLA2G6 PANK2 JPH3 FTL FA2H
6 neurodegeneration with brain iron accumulation 2b 28.7 PLA2G6 PANK2 PANK1 FTL FA2H DCAF17
7 parkinson disease, late-onset 28.3 SLC11A2 PLA2G6 IREB2 CP ATP13A2 ACO1
8 neurodegeneration with brain iron accumulation 2a 28.1 WDR45 PLA2G6 PANK2 PANK1 FTL FA2H
9 neurodegeneration with brain iron accumulation 27.4 WDR45 SLC11A2 PLA2G6 PANK2 PANK1 JPH3
10 chorea, childhood-onset, with psychomotor retardation 10.4
11 congenital disorder of glycosylation, type ip 10.2 PANK2 C19orf12
12 complex hereditary spastic paraplegia 10.2 FA2H ATP13A2
13 macrophage activation syndrome 10.2 FTL FTH1
14 hemochromatosis, type 5 10.2 FTL FTH1
15 spastic paraplegia 43, autosomal recessive 10.2 PLA2G6 FA2H C19orf12
16 spinocerebellar ataxia, autosomal recessive 24 10.2 FA2H ATP13A2
17 parkinsonism 10.2
18 cardiomyopathy, familial hypertrophic, 9 10.1 FTL FTH1
19 alcohol-related neurodevelopmental disorder 10.1 WDR45 C19orf12
20 huntington disease 10.1
21 ataxia and polyneuropathy, adult-onset 10.1
22 tremor 10.1
23 succinic semialdehyde dehydrogenase deficiency 10.1
24 lingual-facial-buccal dyskinesia 10.0 PANK2 JPH3
25 dementia - subcortical 10.0
26 basal ganglia disease 10.0
27 rare hereditary hemochromatosis 10.0
28 hereditary spastic paraplegia 10.0 PLA2G6 FA2H C19orf12 ATP13A2
29 parkinson disease 1, autosomal dominant 10.0 ATP13A2 ACO1
30 parkinson disease 15, autosomal recessive early-onset 9.9 PLA2G6 PANK2 FA2H C19orf12 ATP13A2
31 early-onset parkinson's disease 9.9 PLA2G6 PANK2 FA2H C19orf12 ATP13A2
32 cerebellar disease 9.9 JPH3 FXN CP
33 anemia, sideroblastic, and spinocerebellar ataxia 9.9 FXN ACO1
34 alzheimer disease 9.9
35 aging 9.9
36 focal dystonia 9.9
37 tic disorder 9.9
38 neuroblastoma 9.9
39 dysphagia 9.9
40 iron deficiency anemia 9.8 SLC11A2 FTL CP
41 hemochromatosis, type 3 9.8 SLC11A2 PANK2 FTH1
42 oromandibular dystonia 9.8 PLA2G6 PANK2 FA2H CP C19orf12 ATP13A2
43 protoporphyria, erythropoietic, 1 9.7 IREB2 ACO1
44 spastic paraplegia 38, autosomal dominant 9.7 IREB2 FTL FTH1 ACO1
45 beta-thalassemia 9.6 IREB2 FTL FTH1 ACO1
46 sideroblastic anemia 9.6 IREB2 FXN ACO1
47 erythrocytosis, familial, 2 9.6 SLC11A2 ACO1
48 neurodegeneration with brain iron accumulation 4 9.6 WDR45 PLA2G6 PANK2 FTL FA2H DCAF17
49 friedreich ataxia 9.5 IREB2 FXN FA2H ACO1
50 microcytic anemia 9.5 SLC11A2 IREB2 ACO1

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:

31 58 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased circulating ferritin concentration 31 hallmark (90%) HP:0012343
2 emotional lability 58 31 frequent (33%) Frequent (79-30%) HP:0000712
3 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
4 dysphonia 58 31 frequent (33%) Frequent (79-30%) HP:0001618
5 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
6 chorea 58 31 frequent (33%) Frequent (79-30%) HP:0002072
7 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
8 abnormality of the dentate nucleus 58 31 frequent (33%) Frequent (79-30%) HP:0100321
9 orofacial dyskinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002310
10 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
11 hypomimic face 58 31 frequent (33%) Frequent (79-30%) HP:0000338
12 iron accumulation in substantia nigra 58 31 frequent (33%) Frequent (79-30%) HP:0012678
13 iron accumulation in globus pallidus 58 31 frequent (33%) Frequent (79-30%) HP:0012677
14 abnormal putamen morphology 58 31 frequent (33%) Frequent (79-30%) HP:0031982
15 t2 hypointense thalamus 58 31 frequent (33%) Frequent (79-30%) HP:0012690
16 leg dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0031959
17 blepharospasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0000643
18 weak voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001621
19 brisk reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001348
20 writer's cramp 58 31 occasional (7.5%) Occasional (29-5%) HP:0002356
21 parkinsonism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001300
22 caudate atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002340
23 lower limb hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002395
24 impaired smooth pursuit 58 31 occasional (7.5%) Occasional (29-5%) HP:0007772
25 hyperreflexia in upper limbs 58 31 occasional (7.5%) Occasional (29-5%) HP:0007350
26 loss of voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001686
27 palatal myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0010530
28 arm dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0031960
29 psychosis 58 31 very rare (1%) Very rare (<4-1%) HP:0000709
30 babinski sign 58 31 very rare (1%) Very rare (<4-1%) HP:0003487
31 frontal lobe dementia 58 31 very rare (1%) Very rare (<4-1%) HP:0000727
32 resting tremor 58 31 very rare (1%) Very rare (<4-1%) HP:0002322
33 increased csf protein 58 31 very rare (1%) Very rare (<4-1%) HP:0002922
34 upgaze palsy 58 31 very rare (1%) Very rare (<4-1%) HP:0025331
35 subcortical dementia 58 31 very rare (1%) Very rare (<4-1%) HP:0007123
36 spasticity 31 HP:0001257
37 hyperreflexia 31 HP:0001347
38 ataxia 31 HP:0001251
39 tremor 31 HP:0001337
40 dyskinesia 31 HP:0100660
41 cognitive impairment 58 Very frequent (99-80%)
42 involuntary movements 58 Frequent (79-30%)
43 dystonia 58 Very frequent (99-80%)
44 abnormal cerebellum morphology 31 HP:0001317
45 abnormality of metabolism/homeostasis 31 HP:0001939
46 rigidity 31 HP:0002063
47 iron accumulation in brain 58 Very frequent (99-80%)
48 choreoathetosis 31 HP:0001266
49 disinhibition 31 HP:0000734
50 anarthria 31 HP:0002425

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 Mouth:
palatal tremor

Neurologic Behavioral Psychiatric Manifestations:
emotional lability
disinhibition

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 (Updated 20-May-2021)

UMLS symptoms related to Neurodegeneration with Brain Iron Accumulation 3:


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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ATP13A2 COASY CP FA2H FTL FXN
2 cellular MP:0005384 10 ATP13A2 COASY CP DCAF17 FTH1 FXN
3 homeostasis/metabolism MP:0005376 10 ACO1 ATP13A2 COASY CP FA2H FTH1
4 liver/biliary system MP:0005370 9.5 CP FTH1 FTL IREB2 PANK1 PANK2
5 nervous system MP:0003631 9.44 ATP13A2 COASY CP FA2H FTH1 FTL

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 29 FTL

Anatomical Context for Neurodegeneration with Brain Iron Accumulation 3

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

40
Brain, Eye, Cerebellum, Globus Pallidus, Thalamus, Caudate Nucleus

Publications for Neurodegeneration with Brain Iron Accumulation 3

Articles related to Neurodegeneration with Brain Iron Accumulation 3:

(show top 50) (show all 118)
# Title Authors PMID Year
1
Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation. 61 57 6 25
18854324 2009
2
Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement. 61 6 25 57
16116125 2005
3
Neuroferritinopathy in a French family with late onset dominant dystonia. 61 57 25 6
12746423 2003
4
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. 25 57 6 61
11438811 2001
5
Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene. 57 6 25
15099026 2004
6
Neuroferritinopathy in a Japanese family with a duplication in the ferritin light chain gene. 57 61 6
18413574 2008
7
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. 57 61 25
17142829 2007
8
Neuroferritinopathy: a new inborn error of iron metabolism. 61 57
22278127 2012
9
Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome. 6
27096259 2017
10
Cortical pencil lining in neuroferritinopathy: a diagnostic clue. 25 61
25832658 2015
11
A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies. 25 61
24907184 2014
12
A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation. 25 61
24825732 2014
13
Hereditary hyperferritinaemia cataract syndrome. 6
24766965 2014
14
Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene. 6
22881709 2013
15
Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome. 6
23421845 2013
16
Progressive brain iron accumulation in neuroferritinopathy measured by the thalamic T2* relaxation rate. 61 25
22499840 2012
17
An unusual gait following the discovery of a new disease. 61 25
21385964 2011
18
Dramatic response of facial stereotype/tic to tetrabenazine in the first reported cases of neuroferritinopathy in the United States. 61 25
20818611 2010
19
A case report of spontaneous mutation (C33>U) in the iron-responsive element of L-ferritin causing hyperferritinemia-cataract syndrome. 6
19800271 2010
20
A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: description of clinical features and implications for genotype-phenotype correlations. 25 61
19117339 2009
21
Clinical and genetic delineation of neurodegeneration with brain iron accumulation. 57
18981035 2009
22
T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. 61 25
18443312 2008
23
Preliminary observation of elevated levels of nanocrystalline iron oxide in the basal ganglia of neuroferritinopathy patients. 61 25
17097860 2007
24
Neuroferritinopathy. 25 61
17101456 2006
25
[Hyperferritinemia-cataract syndrome associated to the HFE gene mutation. Two new Spanish families and a new mutation (A37T: "Zaragoza")]. 6
16900584 2006
26
Identification of a novel mutation in the L-ferritin IRE leading to hereditary hyperferritinemia-cataract syndrome. 6
15690351 2005
27
Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights. 61 25
15835264 2005
28
Spectrum of movement disorders in neuroferritinopathy. 61 25
15390132 2005
29
Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms. 57
15173247 2004
30
Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical presentations. 6
14662596 2003
31
Palatal tremor and cognitive decline in neuroferritinopathy. 25 61
12082064 2002
32
Description of a new mutation in the L-ferrin iron-responsive element associated with hereditary hyperferritinemia-cataract syndrome in a Spanish family. 6
10383191 1999
33
Hereditary hyperferritinemia cataract syndrome: a de novo mutation in the iron responsive element of the L-ferritin gene. 6
10366804 1999
34
Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia-cataract syndrome. 6
10366790 1999
35
Loops and bulge/loops in iron-responsive element isoforms influence iron regulatory protein binding. Fine-tuning of mRNA regulation? 6
9726965 1998
36
Hereditary hyperferritinemia-cataract syndrome: two novel mutations in the L-ferritin iron-responsive element. 6
9414313 1998
37
Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA. 6
9226182 1997
38
Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract. 6
7493028 1995
39
The interaction between the iron-responsive element binding protein and its cognate RNA is highly dependent upon both RNA sequence and structure. 6
8233801 1993
40
Structural requirements of iron-responsive elements for binding of the protein involved in both transferrin receptor and ferritin mRNA post-transcriptional regulation. 6
2336358 1990
41
A 3'-truncating FTL mutation associated with hypoferritinemia without neuroferritinopathy. 61
33548513 2021
42
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. 61
32464705 2021
43
Pathogenic mechanism and modeling of neuroferritinopathy. 61
33439270 2021
44
New Insights into the Role of Ferritin in Iron Homeostasis and Neurodegenerative Diseases. 61
33507490 2021
45
Hepcidin and its therapeutic potential in neurodegenerative disorders. 61
31471929 2020
46
Investigations of Huntington's Disease and Huntington's Disease-Like Syndromes in Indian Choreatic Patients. 61
32675418 2020
47
A Patient with Neuroferritinopathy Presenting with Juvenile-Onset Voice Tremor. 61
31390853 2020
48
Stem Cell Modeling of Neuroferritinopathy Reveals Iron as a Determinant of Senescence and Ferroptosis during Neuronal Aging. 61
31587993 2019
49
Mutant L-chain ferritins that cause neuroferritinopathy alter ferritin functionality and iron permeability. 61
31513212 2019
50
Structure, Function, Folding, and Aggregation of a Neuroferritinopathy-Related Ferritin Variant. 61
30986045 2019

Variations for Neurodegeneration with Brain Iron Accumulation 3

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

6 (show top 50) (show all 64)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FTL FTL, 1-BP INS, 460A Insertion Pathogenic 16483 GRCh37:
GRCh38:
2 FTL NM_000146.4(FTL):c.286G>A (p.Ala96Thr) SNV Pathogenic 16486 rs104894685 GRCh37: 19:49469574-49469574
GRCh38: 19:48966317-48966317
3 FTL NM_000146.4(FTL):c.469_484dup (p.Leu162fs) Duplication Pathogenic 16488 rs398124640 GRCh37: 19:49469932-49469933
GRCh38: 19:48966675-48966676
4 FTL NM_000146.4(FTL):c.458dup (p.His153fs) Duplication Pathogenic 16489 rs587776840 GRCh37: 19:49469921-49469922
GRCh38: 19:48966664-48966665
5 FTL NM_000146.4(FTL):c.-157G>A SNV Pathogenic 647521 rs1600120873 GRCh37: 19:49468608-49468608
GRCh38: 19:48965351-48965351
6 FTL NM_000146.4(FTL):c.-164C>A SNV Pathogenic 16481 rs398124637 GRCh37: 19:49468601-49468601
GRCh38: 19:48965344-48965344
7 FTL NM_000146.4(FTL):c.-161C>T SNV Pathogenic 16480 rs398124636 GRCh37: 19:49468604-49468604
GRCh38: 19:48965347-48965347
8 FTL NM_000146.4(FTL):c.-160A>G SNV Pathogenic 16474 rs398124633 GRCh37: 19:49468605-49468605
GRCh38: 19:48965348-48965348
9 FTL NM_000146.4(FTL):c.-167C>T SNV Pathogenic 963917 GRCh37: 19:49468598-49468598
GRCh38: 19:48965341-48965341
10 FTL NM_000146.4(FTL):c.496_497CT[3] (p.Phe167fs) Microsatellite Pathogenic 16487 rs1114167274 GRCh37: 19:49469958-49469959
GRCh38: 19:48966701-48966702
11 FTL NM_000146.4(FTL):c.*8C>T SNV Conflicting interpretations of pathogenicity 158603 rs373178636 GRCh37: 19:49470000-49470000
GRCh38: 19:48966743-48966743
12 FTL NM_000146.4(FTL):c.-46C>A SNV Uncertain significance 329785 rs768457741 GRCh37: 19:49468719-49468719
GRCh38: 19:48965462-48965462
13 FTL NM_000146.4(FTL):c.-92T>C SNV Uncertain significance 329784 rs886054563 GRCh37: 19:49468673-49468673
GRCh38: 19:48965416-48965416
14 FTL NM_000146.4(FTL):c.249+3A>G SNV Uncertain significance 860119 GRCh37: 19:49469176-49469176
GRCh38: 19:48965919-48965919
15 FTL NM_000146.4(FTL):c.181G>A (p.Glu61Lys) SNV Uncertain significance 893056 GRCh37: 19:49469105-49469105
GRCh38: 19:48965848-48965848
16 FTL NM_000146.4(FTL):c.232C>T (p.Leu78Phe) SNV Uncertain significance 893057 GRCh37: 19:49469156-49469156
GRCh38: 19:48965899-48965899
17 FTL NM_000146.4(FTL):c.376C>G (p.Leu126Val) SNV Uncertain significance 655682 rs775308103 GRCh37: 19:49469840-49469840
GRCh38: 19:48966583-48966583
18 FTL NC_000019.10:g.(?_48966261)_(48966755_?)del Deletion Uncertain significance 659582 GRCh37: 19:49469518-49470012
GRCh38: 19:48966261-48966755
19 FTL NM_000146.4(FTL):c.*131A>T SNV Uncertain significance 329789 rs374919004 GRCh37: 19:49470123-49470123
GRCh38: 19:48966866-48966866
20 FTL NM_000146.4(FTL):c.194G>A (p.Arg65His) SNV Uncertain significance 534233 rs1555797038 GRCh37: 19:49469118-49469118
GRCh38: 19:48965861-48965861
21 FTL NM_000146.4(FTL):c.502G>T (p.Glu168Ter) SNV Uncertain significance 565863 rs768204975 GRCh37: 19:49469966-49469966
GRCh38: 19:48966709-48966709
22 FTL NM_000146.4(FTL):c.261A>C (p.Glu87Asp) SNV Uncertain significance 1001552 GRCh37: 19:49469549-49469549
GRCh38: 19:48966292-48966292
23 FTL NM_000146.4(FTL):c.-148G>C SNV Uncertain significance 1009717 GRCh37: 19:49468617-49468617
GRCh38: 19:48965360-48965360
24 FTL NM_000146.4(FTL):c.473C>T (p.Pro158Leu) SNV Uncertain significance 1017882 GRCh37: 19:49469937-49469937
GRCh38: 19:48966680-48966680
25 FTL NM_000146.4(FTL):c.178C>T (p.Arg60Cys) SNV Uncertain significance 1040858 GRCh37: 19:49469102-49469102
GRCh38: 19:48965845-48965845
26 FTL NM_000146.4(FTL):c.-166T>C SNV Uncertain significance 1052512 GRCh37: 19:49468599-49468599
GRCh38: 19:48965342-48965342
27 FTL NM_000146.4(FTL):c.-139C>T SNV Uncertain significance 1063581 GRCh37: 19:49468626-49468626
GRCh38: 19:48965369-48965369
28 FTL NM_000146.4(FTL):c.-186C>A SNV Uncertain significance 894089 GRCh37: 19:49468579-49468579
GRCh38: 19:48965322-48965322
29 FTL NM_000146.4(FTL):c.-173C>G SNV Uncertain significance 894090 GRCh37: 19:49468592-49468592
GRCh38: 19:48965335-48965335
30 FTL NM_000146.4(FTL):c.-86C>T SNV Uncertain significance 894091 GRCh37: 19:49468679-49468679
GRCh38: 19:48965422-48965422
31 FTL NM_000146.4(FTL):c.*76G>A SNV Uncertain significance 894125 GRCh37: 19:49470068-49470068
GRCh38: 19:48966811-48966811
32 FTL NM_000146.4(FTL):c.324C>T (p.Asn108=) SNV Uncertain significance 893263 GRCh37: 19:49469612-49469612
GRCh38: 19:48966355-48966355
33 FTL NM_000146.4(FTL):c.12G>C (p.Gln4His) SNV Uncertain significance 940706 GRCh37: 19:49468776-49468776
GRCh38: 19:48965519-48965519
34 FTL NM_000146.4(FTL):c.466G>A (p.Gly156Ser) SNV Uncertain significance 948940 GRCh37: 19:49469930-49469930
GRCh38: 19:48966673-48966673
35 FTL NM_000146.4(FTL):c.302T>C (p.Met101Thr) SNV Uncertain significance 960669 GRCh37: 19:49469590-49469590
GRCh38: 19:48966333-48966333
36 FTL NM_000146.4(FTL):c.362G>A (p.Arg121His) SNV Likely benign 893264 GRCh37: 19:49469650-49469650
GRCh38: 19:48966393-48966393
37 FTL NM_000146.4(FTL):c.103-14A>C SNV Likely benign 894480 GRCh37: 19:49469013-49469013
GRCh38: 19:48965756-48965756
38 FTL , GYS1 NM_002103.5(GYS1):c.*370A>C SNV Likely benign 329800 rs185366453 GRCh37: 19:49472175-49472175
GRCh38: 19:48968918-48968918
39 FTL , GYS1 NM_002103.5(GYS1):c.*301G>A SNV Likely benign 329801 rs147489255 GRCh37: 19:49472244-49472244
GRCh38: 19:48968987-48968987
40 FTL , GYS1 NM_002103.5(GYS1):c.*611C>T SNV Likely benign 369275 rs370792196 GRCh37: 19:49471934-49471934
GRCh38: 19:48968677-48968677
41 FTL , GYS1 NM_002103.5(GYS1):c.*421A>G SNV Likely benign 369277 rs181566066 GRCh37: 19:49472124-49472124
GRCh38: 19:48968867-48968867
42 FTL , GYS1 NM_002103.5(GYS1):c.*908G>A SNV Likely benign 329792 rs117997270 GRCh37: 19:49471637-49471637
GRCh38: 19:48968380-48968380
43 FTL , GYS1 NM_002103.5(GYS1):c.2207G>A (p.Arg736His) SNV Likely benign 329804 rs367919986 GRCh37: 19:49472552-49472552
GRCh38: 19:48969295-48969295
44 FTL , GYS1 NM_002103.5(GYS1):c.*450G>A SNV Likely benign 329799 rs3745693 GRCh37: 19:49472095-49472095
GRCh38: 19:48968838-48968838
45 FTL , GYS1 NM_002103.5(GYS1):c.1926G>A (p.Val642=) SNV Likely benign 329808 rs5451 GRCh37: 19:49472833-49472833
GRCh38: 19:48969576-48969576
46 FTL , LOC119369037 , GYS1 NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys) SNV Likely benign 329810 rs561646250 GRCh37: 19:49474215-49474215
GRCh38: 19:48970958-48970958
47 FTL , GYS1 NM_002103.5(GYS1):c.1749C>A (p.Ile583=) SNV Likely benign 369285 rs146698792 GRCh37: 19:49473863-49473863
GRCh38: 19:48970606-48970606
48 FTL , GYS1 NM_002103.5(GYS1):c.*1113_*1116del Deletion Likely benign 329790 rs148396922 GRCh37: 19:49471429-49471432
GRCh38: 19:48968172-48968175
49 FTL , GYS1 NM_002103.5(GYS1):c.1848C>T (p.Ala616=) SNV Likely benign 329809 rs145789213 GRCh37: 19:49473074-49473074
GRCh38: 19:48969817-48969817
50 FTL , GYS1 NM_002103.5(GYS1):c.2013C>T (p.Asp671=) SNV Likely benign 329805 rs5452 GRCh37: 19:49472746-49472746
GRCh38: 19:48969489-48969489

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

72
# Symbol AA change Variation ID SNP ID
1 FTL p.Ala96Thr VAR_026633 rs104894685

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

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 cytoplasm GO:0005737 10.1 WDR45 SLC11A2 PLA2G6 PANK2 PANK1 IREB2
2 cytosol GO:0005829 10 WDR45 PLA2G6 PANK2 PANK1 IREB2 FXN
3 mitochondrion GO:0005739 9.56 SLC11A2 PLA2G6 PANK2 IREB2 FXN COASY
4 autolysosome GO:0044754 9.16 FTL FTH1
5 intracellular ferritin complex GO:0008043 8.62 FTL FTH1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 iron ion homeostasis GO:0055072 9.55 SLC11A2 IREB2 FXN FTL CP
2 aerobic respiration GO:0009060 9.49 PANK2 FXN
3 heme biosynthetic process GO:0006783 9.48 SLC11A2 FXN
4 response to iron ion GO:0010039 9.46 SLC11A2 FXN
5 copper ion transport GO:0006825 9.43 SLC11A2 CP
6 coenzyme A biosynthetic process GO:0015937 9.43 PANK2 PANK1 COASY
7 intestinal absorption GO:0050892 9.4 IREB2 ACO1
8 intracellular sequestering of iron ion GO:0006880 9.37 FTL FTH1
9 iron ion transport GO:0006826 9.35 SLC11A2 IREB2 FTL FTH1 CP
10 citrate metabolic process GO:0006101 9.32 IREB2 ACO1
11 cellular iron ion homeostasis GO:0006879 9.23 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 iron ion binding GO:0005506 9.58 FTL FTH1 FA2H
2 phosphatidylinositol-3,5-bisphosphate binding GO:0080025 9.43 WDR45 ATP13A2
3 pantothenate kinase activity GO:0004594 9.37 PANK2 PANK1
4 ferrous iron binding GO:0008198 9.33 FXN FTL FTH1
5 aconitate hydratase activity GO:0003994 9.32 IREB2 ACO1
6 iron-responsive element binding GO:0030350 9.26 IREB2 ACO1
7 ferric iron binding GO:0008199 9.13 FXN FTL FTH1
8 ferroxidase activity GO:0004322 8.8 FXN FTH1 CP

Sources for Neurodegeneration with Brain Iron Accumulation 3

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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