NBIA5
MCID: NRD032
MIFTS: 46

Neurodegeneration with Brain Iron Accumulation 5 (NBIA5)

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

Aliases & Classifications for Neurodegeneration with Brain Iron Accumulation 5

MalaCards integrated aliases for Neurodegeneration with Brain Iron Accumulation 5:

Name: Neurodegeneration with Brain Iron Accumulation 5 58 12 25 54 26 76 30 6 15 74
Beta-Propeller Protein-Associated Neurodegeneration 58 12 25 54 26 60 76 30
Nbia5 58 12 25 54 26 60 76
Bpan 58 12 25 54 26 60 76
Senda 58 12 54 26 60 76
Static Encephalopathy of Childhood with Neurodegeneration in Adulthood 58 12 54 26 76
Static Encephalopathy of Childhood with Neurdegeneration in Adulthood 54 60
Neurodegeneration with Brain Iron Accumulation Type 5 54 60
Neurodegeneration with Brain Iron Accululation 5 54 13
Static Encephalopathy of Childhood with Neurodegeneration in Adulthood; Senda 58
Beta-Propeller Protein-Associated Neurodegeneration; Bpan 58
Neurodegeneration, with Brain Iron Accululation, Type 5 41

Characteristics:

Orphanet epidemiological data:

60
beta-propeller protein-associated neurodegeneration
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Miscellaneous:
de novo mutation
onset in infancy or early childhood
disorder is static for first 2 decades and then shows progression of movement disorders and further cognitive decline
affected males are somatic mosaic for mutations
motor symptoms show mild clinical improvement with levodopa treatment
patients are severely disabled as adults

Inheritance:
x-linked dominant


HPO:

33
neurodegeneration with brain iron accumulation 5:
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Neurodegeneration with Brain Iron Accumulation 5

OMIM : 58 NBIA5, sometimes referred to as 'static encephalopathy of childhood with neurodegeneration in adulthood (SENDA),' is an X-linked neurodegenerative disorder characterized by global developmental delay in early childhood that is essentially static, with slow motor and cognitive gains until adolescence or early adulthood. In young adulthood, affected individuals develop progressive dystonia, parkinsonism, extrapyramidal signs, and dementia resulting in severe disability. Brain MRI shows iron accumulation in the globus pallidus and substantia nigra. A characteristic finding is T1-weighted hyperintensity surrounding a central band of hypointensity in the substantia nigra. Cerebral and cerebellar atrophy are also observed (summary by Haack et al., 2012 and Saitsu et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200). (300894)

MalaCards based summary : Neurodegeneration with Brain Iron Accumulation 5, also known as beta-propeller protein-associated neurodegeneration, is related to neurodegeneration with brain iron accumulation and anorexia nervosa, and has symptoms including tremor, abnormality of extrapyramidal motor function and bradykinesia. An important gene associated with Neurodegeneration with Brain Iron Accumulation 5 is WDR45 (WD Repeat Domain 45), and among its related pathways/superpathways is Pantothenate and CoA biosynthesis. The drugs Iron and Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include brain, globus pallidus and eye, and related phenotypes are abnormality of eye movement and intellectual disability

Disease Ontology : 12 A neurodegeneration with brain iron accumulation that has material basis in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23.

Genetics Home Reference : 26 Beta-propeller protein-associated neurodegeneration (BPAN) is a disorder that damages the nervous system and is progressive, which means that it gradually gets worse. Affected individuals develop a buildup of iron in the brain that can be seen with medical imaging. For this reason, BPAN is classified as a type of disorder called neurodegeneration with brain iron accumulation (NBIA), although the iron accumulation may not occur until late in the disease.

NIH Rare Diseases : 54 Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), is a hereditary neurologic disorder. It is part of the group of disorders known as neurodegeneration with brain iron accumulation. This disorder presents with global developmental delay in childhood which becomes progressive in early adulthood. Symptoms include dystonia (a movement disorder resulting in muscular spasms, twisting and repetitive movements) spasticity, parkinsonism (slurred or slow speech, stiffness of the muscles, slow movement, and visible tremors), and cognitive decline. BPAN is caused by mutations in the WDR45 gene.  It is inherited in a dominant X-linked manner. Treatment is aimed at addressing the symptoms found in each individual.   

UniProtKB/Swiss-Prot : 76 Neurodegeneration with brain iron accumulation 5: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA5 is characterized by global developmental delay in early childhood that is essentially static, with slow motor and cognitive gains until adolescence or early adulthood. In young adulthood, affected individuals develop progressive dystonia, parkinsonism, extrapyramidal signs, and dementia resulting in severe disability.

GeneReviews: NBK424403

Related Diseases for Neurodegeneration with Brain Iron Accumulation 5

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 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 31.9 C19orf12 COASY PANK2 PLA2G6 WDR45
2 anorexia nervosa 11.1
3 alcohol-related neurodevelopmental disorder 10.5
4 alacrima, achalasia, and mental retardation syndrome 10.4
5 fasciitis 10.4
6 ischemic fasciitis 10.4
7 basal ganglia calcification 10.2
8 encephalopathy 10.2
9 dyslexia 10.1
10 neurodegeneration with brain iron accumulation 2b 9.9 PANK2 PLA2G6
11 neurodegeneration with brain iron accumulation 2a 9.9 PANK2 PLA2G6
12 kufor-rakeb syndrome 9.8 PANK2 PLA2G6
13 neuroaxonal dystrophy 9.7 PANK2 PLA2G6
14 vici syndrome 9.7 SNX14 TECPR2
15 parkinson disease 15, autosomal recessive early-onset 9.7 C19orf12 PANK2 PLA2G6
16 neurodegeneration with brain iron accumulation 3 9.7 C19orf12 PANK2 PLA2G6
17 aceruloplasminemia 9.6 PANK2 PLA2G6
18 spastic paraplegia 49, autosomal recessive 9.6 SNX14 TECPR2 WDR45
19 neurodegeneration with brain iron accumulation 4 9.5 C19orf12 PANK2 PLA2G6 WDR45
20 neurodegeneration with brain iron accumulation 1 9.4 C19orf12 COASY PANK2 PLA2G6
21 dystonia 9.4 C19orf12 PANK2 PLA2G6 WDR45
22 neurodegeneration with brain iron accumulation 6 9.4 C19orf12 COASY PANK2 PLA2G6

Graphical network of the top 20 diseases related to Neurodegeneration with Brain Iron Accumulation 5:



Diseases related to Neurodegeneration with Brain Iron Accumulation 5

Symptoms & Phenotypes for Neurodegeneration with Brain Iron Accumulation 5

Human phenotypes related to Neurodegeneration with Brain Iron Accumulation 5:

60 33 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of eye movement 60 33 frequent (33%) Frequent (79-30%) HP:0000496
2 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
3 tremor 60 33 frequent (33%) Frequent (79-30%) HP:0001337
4 sleep disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0002360
5 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
6 dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0001332
7 rigidity 60 33 frequent (33%) Frequent (79-30%) HP:0002063
8 dementia 60 33 frequent (33%) Frequent (79-30%) HP:0000726
9 progressive encephalopathy 60 33 frequent (33%) Frequent (79-30%) HP:0002448
10 cerebellar atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0001272
11 bradykinesia 60 33 frequent (33%) Frequent (79-30%) HP:0002067
12 cerebral atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002059
13 parkinsonism 60 33 frequent (33%) Frequent (79-30%) HP:0001300
14 spastic paraparesis 60 33 frequent (33%) Frequent (79-30%) HP:0002313
15 poor speech 60 33 frequent (33%) Frequent (79-30%) HP:0002465
16 frontal release signs 60 33 frequent (33%) Frequent (79-30%) HP:0000743
17 iron accumulation in substantia nigra 60 33 frequent (33%) Frequent (79-30%) HP:0012678
18 abnormal autonomic nervous system physiology 33 frequent (33%) HP:0012332
19 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
20 optic atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000648
21 aggressive behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0000718
22 dysautonomia 60 Frequent (79-30%)
23 absent speech 33 HP:0001344
24 neurodegeneration 33 HP:0002180
25 iron accumulation in brain 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
tremor
dysautonomia
dystonia
rigidity
dementia
more
Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior (in some patients)

Head And Neck Eyes:
eye movement abnormalities
retinal nerve atrophy (in some patients)

Clinical features from OMIM:

300894

UMLS symptoms related to Neurodegeneration with Brain Iron Accumulation 5:


tremor, abnormality of extrapyramidal motor function, bradykinesia, muscle rigidity, paraparesis, spastic

Drugs & Therapeutics for Neurodegeneration with Brain Iron Accumulation 5

Drugs for Neurodegeneration with Brain Iron Accumulation 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved, Experimental 7439-89-6, 15438-31-0 27284 23925
2 Micronutrients
3 Nutrients
4 Trace Elements

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 NBIAready: Online Collection of Natural History Patient-reported Outcome Measures Recruiting NCT02587858
2 Imaging Neuromelanin and Iron in Dystonia/Parkinsonism Not yet recruiting NCT03572114

Search NIH Clinical Center for Neurodegeneration with Brain Iron Accumulation 5

Genetic Tests for Neurodegeneration with Brain Iron Accumulation 5

Genetic tests related to Neurodegeneration with Brain Iron Accumulation 5:

# Genetic test Affiliating Genes
1 Beta-Propeller Protein-Associated Neurodegeneration 30 WDR45
2 Neurodegeneration with Brain Iron Accumulation 5 30 WDR45

Anatomical Context for Neurodegeneration with Brain Iron Accumulation 5

MalaCards organs/tissues related to Neurodegeneration with Brain Iron Accumulation 5:

42
Brain, Globus Pallidus, Eye

Publications for Neurodegeneration with Brain Iron Accumulation 5

Articles related to Neurodegeneration with Brain Iron Accumulation 5:

(show all 31)
# Title Authors Year
1
Beta-propeller protein-associated neurodegeneration (BPAN) as a genetically simple model of multifaceted neuropathology resulting from defects in autophagy. ( 30204590 )
2019
2
A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis. ( 30612247 )
2019
3
Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β-Propeller Protein-Associated Neurodegeneration. ( 30746416 )
2019
4
Ischemic Fasciitis of the Left Buttock in a 40-Year-Old Woman with Beta-Propeller Protein-Associated Neurodegeneration (BPAN). ( 30341275 )
2018
5
Beta-propeller protein-associated neurodegeneration: a case report and review of the literature. ( 29445477 )
2018
6
A Patient with Beta-Propeller Protein-Associated Neurodegeneration: Treatment with Iron Chelation Therapy. ( 29860786 )
2018
7
Ocular and systemic manifestations of beta-propeller protein-associated neurodegeneration. ( 30092264 )
2018
8
Beta-propeller protein associated neurodegeneration (BPAN); the first report of three patients from Iran with de novo novel mutations. ( 30455156 )
2018
9
A Case with Beta-Propeller Protein Associated Neurodegeneration with Smooth Response to Levodopa Treatment. ( 30800705 )
2018
10
Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration. ( 28711740 )
2017
11
Clinical and Imaging Presentation of a Patient with Beta-Propeller Protein-Associated Neurodegeneration, a Rare and Sporadic form of Neurodegeneration with Brain Iron Accumulation (NBIA). ( 28643035 )
2017
12
A novel WDR45 mutation in a patient with β-propeller protein-associated neurodegeneration. ( 27957548 )
2017
13
Ferrous Iron Up-regulation in Fibroblasts of Patients with Beta Propeller Protein-Associated Neurodegeneration (BPAN). ( 28261264 )
2017
14
Novel WDR45 mutation causing beta-propeller protein associated neurodegeneration (BPAN) in two monozygotic twins. ( 28361255 )
2017
15
Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy. ( 28878728 )
2017
16
Presynaptic Dopaminergic Degeneration in a Patient with Beta-Propeller Protein-Associated Neurodegeneration Documented by Dopamine Transporter Positron Emission Tomography Images: A Case Report. ( 28889720 )
2017
17
A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45. ( 29082105 )
2017
18
Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature. ( 26481852 )
2016
19
[A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood]. ( 27349085 )
2016
20
High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism. ( 25744623 )
2015
21
Beta-Propeller-Protein-Associated Neurodegeneration: A Case of Mutation in WDR45. ( 26022463 )
2015
22
Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy. ( 26123052 )
2015
23
Stereotypic Hand Movements in β-Propeller Protein-Associated Neurodegeneration: First Video Report. ( 30713893 )
2015
24
Basal ganglia calcification in a patient with beta-propeller protein-associated neurodegeneration. ( 25301227 )
2014
25
Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients. ( 24368176 )
2014
26
Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration. ( 24610255 )
2014
27
Characteristic MRI findings in beta-propeller protein-associated neurodegeneration (BPAN). ( 24790802 )
2014
28
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. ( 23687123 )
2013
29
MRI, MR spectroscopy, and diffusion tensor imaging findings in patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA). ( 22892189 )
2013
30
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. ( 23435086 )
2013
31
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. ( 23176820 )
2012

Variations for Neurodegeneration with Brain Iron Accumulation 5

ClinVar genetic disease variations for Neurodegeneration with Brain Iron Accumulation 5:

6 (show top 50) (show all 96)
# Gene Variation Type Significance SNP ID Assembly Location
1 WDR45 NM_007075.3(WDR45): c.1007_1008delAT (p.Tyr336Cysfs) deletion Pathogenic rs387907328 GRCh37 Chromosome X, 48932540: 48932541
2 WDR45 NM_007075.3(WDR45): c.1007_1008delAT (p.Tyr336Cysfs) deletion Pathogenic rs387907328 GRCh38 Chromosome X, 49074881: 49074882
3 WDR45 NM_007075.3(WDR45): c.700C> T (p.Arg234Ter) single nucleotide variant Pathogenic rs387907329 GRCh37 Chromosome X, 48933232: 48933232
4 WDR45 NM_007075.3(WDR45): c.700C> T (p.Arg234Ter) single nucleotide variant Pathogenic rs387907329 GRCh38 Chromosome X, 49075573: 49075573
5 WDR45 NM_007075.3(WDR45): c.519G> C (p.Val173=) single nucleotide variant Pathogenic rs387907330 GRCh37 Chromosome X, 48933525: 48933525
6 WDR45 NM_007075.3(WDR45): c.519G> C (p.Val173=) single nucleotide variant Pathogenic rs387907330 GRCh38 Chromosome X, 49075866: 49075866
7 WDR45 NM_007075.3(WDR45): c.437dupA (p.Leu148Alafs) duplication Pathogenic rs387907331 GRCh37 Chromosome X, 48934091: 48934091
8 WDR45 NM_007075.3(WDR45): c.437dupA (p.Leu148Alafs) duplication Pathogenic rs387907331 GRCh38 Chromosome X, 49076432: 49076432
9 WDR45 NM_007075.3(WDR45): c.637C> T (p.Gln213Ter) single nucleotide variant Pathogenic rs387907332 GRCh37 Chromosome X, 48933295: 48933295
10 WDR45 NM_007075.3(WDR45): c.637C> T (p.Gln213Ter) single nucleotide variant Pathogenic rs387907332 GRCh38 Chromosome X, 49075636: 49075636
11 WDR45 NM_007075.3(WDR45): c.1033A> G (p.Asn345Asp) single nucleotide variant Likely pathogenic rs797046100 GRCh37 Chromosome X, 48932515: 48932515
12 WDR45 NM_007075.3(WDR45): c.1033A> G (p.Asn345Asp) single nucleotide variant Likely pathogenic rs797046100 GRCh38 Chromosome X, 49074856: 49074856
13 WDR45 NM_007075.3(WDR45): c.969dup (p.Val324Cysfs) duplication Likely pathogenic rs797046105 GRCh38 Chromosome X, 49075143: 49075143
14 WDR45 NM_007075.3(WDR45): c.969dup (p.Val324Cysfs) duplication Likely pathogenic rs797046105 GRCh37 Chromosome X, 48932802: 48932802
15 WDR45 NM_007075.3(WDR45): c.830+2_830+3del deletion Pathogenic rs797046103 GRCh37 Chromosome X, 48933020: 48933021
16 WDR45 NM_007075.3(WDR45): c.830+2_830+3del deletion Pathogenic rs797046103 GRCh38 Chromosome X, 49075361: 49075362
17 WDR45 NM_007075.3(WDR45): c.519+1G> T single nucleotide variant Pathogenic rs797046102 GRCh37 Chromosome X, 48933524: 48933524
18 WDR45 NM_007075.3(WDR45): c.519+1G> T single nucleotide variant Pathogenic rs797046102 GRCh38 Chromosome X, 49075865: 49075865
19 WDR45 NM_007075.3(WDR45): c.400C> T (p.Arg134Ter) single nucleotide variant Pathogenic/Likely pathogenic rs797046101 GRCh37 Chromosome X, 48934128: 48934128
20 WDR45 NM_007075.3(WDR45): c.400C> T (p.Arg134Ter) single nucleotide variant Pathogenic/Likely pathogenic rs797046101 GRCh38 Chromosome X, 49076469: 49076469
21 WDR45 NM_007075.3(WDR45): c.161_163delTGG (p.Val54del) deletion Conflicting interpretations of pathogenicity rs864309661 GRCh38 Chromosome X, 49077715: 49077717
22 WDR45 NM_007075.3(WDR45): c.161_163delTGG (p.Val54del) deletion Conflicting interpretations of pathogenicity rs864309661 GRCh37 Chromosome X, 48935374: 48935376
23 WDR45 NM_007075.3(WDR45): c.976+1G> A single nucleotide variant Likely pathogenic rs869312661 GRCh37 Chromosome X, 48932794: 48932794
24 WDR45 NM_007075.3(WDR45): c.976+1G> A single nucleotide variant Likely pathogenic rs869312661 GRCh38 Chromosome X, 49075135: 49075135
25 WDR45 NM_001029896.1(WDR45): c.777delT (p.Thr260Leufs) deletion Uncertain significance rs875989804 GRCh37 Chromosome X, 48933073: 48933073
26 WDR45 NM_001029896.1(WDR45): c.777delT (p.Thr260Leufs) deletion Uncertain significance rs875989804 GRCh38 Chromosome X, 49075414: 49075414
27 WDR45 NM_007075.3(WDR45): c.614G> A (p.Gly205Asp) single nucleotide variant Pathogenic rs878855326 GRCh37 Chromosome X, 48933318: 48933318
28 WDR45 NM_007075.3(WDR45): c.614G> A (p.Gly205Asp) single nucleotide variant Pathogenic rs878855326 GRCh38 Chromosome X, 49075659: 49075659
29 WDR45 NM_007075.3(WDR45): c.830+1G> A single nucleotide variant Pathogenic rs1557083958 GRCh37 Chromosome X, 48933022: 48933022
30 WDR45 NM_007075.3(WDR45): c.830+1G> A single nucleotide variant Pathogenic rs1557083958 GRCh38 Chromosome X, 49075363: 49075363
31 WDR45 NM_007075.3(WDR45): c.19C> T (p.Arg7Ter) single nucleotide variant Pathogenic rs886041382 GRCh37 Chromosome X, 48935736: 48935736
32 WDR45 NM_007075.3(WDR45): c.19C> T (p.Arg7Ter) single nucleotide variant Pathogenic rs886041382 GRCh38 Chromosome X, 49078077: 49078077
33 WDR45 NM_007075.3(WDR45): c.841G> A (p.Val281Met) single nucleotide variant Benign rs149509552 GRCh37 Chromosome X, 48932930: 48932930
34 WDR45 NM_007075.3(WDR45): c.841G> A (p.Val281Met) single nucleotide variant Benign rs149509552 GRCh38 Chromosome X, 49075271: 49075271
35 WDR45 NM_007075.3(WDR45): c.939C> T (p.Phe313=) single nucleotide variant Likely benign rs199814778 GRCh37 Chromosome X, 48932832: 48932832
36 WDR45 NM_007075.3(WDR45): c.939C> T (p.Phe313=) single nucleotide variant Likely benign rs199814778 GRCh38 Chromosome X, 49075173: 49075173
37 WDR45 NM_007075.3(WDR45): c.55+2_55+3del deletion Pathogenic rs1057519622 GRCh37 Chromosome X, 48935697: 48935698
38 WDR45 NM_007075.3(WDR45): c.55+2_55+3del deletion Pathogenic rs1057519622 GRCh38 Chromosome X, 49078038: 49078039
39 WDR45 NM_007075.3(WDR45): c.354C> T (p.Ile118=) single nucleotide variant Benign rs140596058 GRCh37 Chromosome X, 48934174: 48934174
40 WDR45 NM_007075.3(WDR45): c.354C> T (p.Ile118=) single nucleotide variant Benign rs140596058 GRCh38 Chromosome X, 49076515: 49076515
41 WDR45 NM_007075.3(WDR45): c.503G> A (p.Gly168Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs1131691592 GRCh37 Chromosome X, 48933541: 48933541
42 WDR45 NM_007075.3(WDR45): c.503G> A (p.Gly168Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs1131691592 GRCh38 Chromosome X, 49075882: 49075882
43 WDR45 NM_007075.3(WDR45): c.355G> A (p.Val119Met) single nucleotide variant Uncertain significance rs782302447 GRCh37 Chromosome X, 48934173: 48934173
44 WDR45 NM_007075.3(WDR45): c.355G> A (p.Val119Met) single nucleotide variant Uncertain significance rs782302447 GRCh38 Chromosome X, 49076514: 49076514
45 WDR45 NM_007075.3(WDR45): c.440-2A> C single nucleotide variant Pathogenic rs886041693 GRCh37 Chromosome X, 48933606: 48933606
46 WDR45 NM_007075.3(WDR45): c.440-2A> C single nucleotide variant Pathogenic rs886041693 GRCh38 Chromosome X, 49075947: 49075947
47 WDR45 NM_007075.3(WDR45): c.176G> C (p.Arg59Pro) single nucleotide variant Uncertain significance rs1557084469 GRCh37 Chromosome X, 48935361: 48935361
48 WDR45 NM_007075.3(WDR45): c.176G> C (p.Arg59Pro) single nucleotide variant Uncertain significance rs1557084469 GRCh38 Chromosome X, 49077702: 49077702
49 WDR45 NM_007075.3(WDR45): c.977-9delC deletion Benign rs782179321 GRCh38 Chromosome X, 49074921: 49074921
50 WDR45 NM_007075.3(WDR45): c.977-9delC deletion Benign rs782179321 GRCh37 Chromosome X, 48932580: 48932580

Expression for Neurodegeneration with Brain Iron Accumulation 5

Search GEO for disease gene expression data for Neurodegeneration with Brain Iron Accumulation 5.

Pathways for Neurodegeneration with Brain Iron Accumulation 5

Pathways related to Neurodegeneration with Brain Iron Accumulation 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.9 COASY PANK2

GO Terms for Neurodegeneration with Brain Iron Accumulation 5

Cellular components related to Neurodegeneration with Brain Iron Accumulation 5 according to GeneCards Suite gene sharing:

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

Biological processes related to Neurodegeneration with Brain Iron Accumulation 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 autophagy GO:0006914 9.33 C19orf12 TECPR2 WDR45
2 coenzyme A biosynthetic process GO:0015937 8.96 COASY PANK2
3 coenzyme biosynthetic process GO:0009108 8.62 COASY PANK2

Molecular functions related to Neurodegeneration with Brain Iron Accumulation 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-3,5-bisphosphate binding GO:0080025 8.62 SNX14 WDR45

Sources for Neurodegeneration with Brain Iron Accumulation 5

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