Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Academic Licensing Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: NRD032
MIFTS: 45

Neurodegeneration with Brain Iron Accumulation 5

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Neurodegeneration with Brain Iron Accumulation 5

About this section

MalaCards integrated aliases for Neurodegeneration with Brain Iron Accumulation 5:

Name: Neurodegeneration with Brain Iron Accumulation 5 57 12 24 53 25 75 29 6 15 73
Beta-Propeller Protein-Associated Neurodegeneration 57 12 24 53 25 59 75 29
Nbia5 57 12 24 53 25 59 75
Bpan 57 12 24 53 25 59 75
Senda 57 12 53 25 59 75
Static Encephalopathy of Childhood with Neurodegeneration in Adulthood 57 12 53 25 75
Neurodegeneration with Brain Iron Accululation 5 53 29 13 6
Static Encephalopathy of Childhood with Neurdegeneration in Adulthood 53 59
Neurodegeneration with Brain Iron Accumulation Type 5 53 59
Static Encephalopathy of Childhood with Neurodegeneration in Adulthood; Senda 57
Beta-Propeller Protein-Associated Neurodegeneration; Bpan 57
Neurodegeneration, with Brain Iron Accululation, Type 5 40

Characteristics:

Orphanet epidemiological data:

59
beta-propeller protein-associated neurodegeneration
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
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:

32
neurodegeneration with brain iron accumulation 5:
Inheritance x-linked dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare neurological diseases


Sources

Summaries for Neurodegeneration with Brain Iron Accumulation 5

About this section
OMIM : 57 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 muscle rigidity, paraparesis, spastic and tremor. 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 drug Iron has 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

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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.   

Genetics Home Reference : 25 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.

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.

GeneReviews: NBK424403
Sources

Related Diseases for Neurodegeneration with Brain Iron Accumulation 5

About this section

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 18)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 29.9 C19orf12 COASY PANK2 PLA2G6 WDR45
2 anorexia nervosa 10.9
3 alacrima, achalasia, and mental retardation syndrome 10.3
4 encephalopathy 10.3
5 neurodegeneration with brain iron accumulation 2b 9.9 PANK2 PLA2G6
6 kufor-rakeb syndrome 9.8 PANK2 PLA2G6
7 neuroaxonal dystrophy 9.8 PANK2 PLA2G6
8 aceruloplasminemia 9.6 PANK2 PLA2G6
9 vici syndrome 9.5 SNX14 TECPR2
10 parkinson disease 15, autosomal recessive early-onset 9.5 C19orf12 PANK2 PLA2G6
11 neurodegeneration with brain iron accumulation 3 9.4 C19orf12 PANK2 PLA2G6
12 dystonia 9.2 C19orf12 PANK2 PLA2G6
13 spastic paraplegia 49, autosomal recessive 9.2 SNX14 TECPR2 WDR45
14 neurodegeneration with brain iron accumulation 4 9.1 C19orf12 PANK2 PLA2G6 WDR45
15 trehalase deficiency 8.9 PANK2 PLA2G6 WDR45
16 neurodegeneration with brain iron accumulation 1 8.9 C19orf12 COASY PANK2 PLA2G6
17 neurodegeneration with brain iron accumulation 6 8.9 C19orf12 COASY PANK2 PLA2G6
18 neurodegeneration with brain iron accumulation 2a 8.9 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
Sources

Symptoms & Phenotypes for Neurodegeneration with Brain Iron Accumulation 5

About this section

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Neurodegeneration with Brain Iron Accumulation 5:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of eye movement 59 32 frequent (33%) Frequent (79-30%) HP:0000496
2 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
3 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
5 sleep disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0002360
6 dysautonomia 59 32 frequent (33%) Frequent (79-30%) HP:0002459
7 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
8 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
9 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
10 rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0002063
11 dementia 59 32 frequent (33%) Frequent (79-30%) HP:0000726
12 aggressive behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000718
13 progressive encephalopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002448
14 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
15 bradykinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002067
16 cerebral atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002059
17 parkinsonism 59 32 frequent (33%) Frequent (79-30%) HP:0001300
18 spastic paraparesis 59 32 frequent (33%) Frequent (79-30%) HP:0002313
19 poor speech 59 32 frequent (33%) Frequent (79-30%) HP:0002465
20 frontal release signs 59 32 frequent (33%) Frequent (79-30%) HP:0000743
21 iron accumulation in substantia nigra 59 32 frequent (33%) Frequent (79-30%) HP:0012678
22 absent speech 32 HP:0001344
23 neurodegeneration 32 HP:0002180
24 iron accumulation in brain 59 Frequent (79-30%)

UMLS symptoms related to Neurodegeneration with Brain Iron Accumulation 5:


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

Drugs & Therapeutics for Neurodegeneration with Brain Iron Accumulation 5

About this section

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 7439-89-6 23925

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

Sources

Genetic Tests for Neurodegeneration with Brain Iron Accumulation 5

About this section

Genetic tests related to Neurodegeneration with Brain Iron Accumulation 5:

# Genetic test Affiliating Genes
1 Beta-Propeller Protein-Associated Neurodegeneration 29 WDR45
2 Neurodegeneration with Brain Iron Accumulation 5 29 WDR45
3 Neurodegeneration with Brain Iron Accululation 5 29
Sources

Anatomical Context for Neurodegeneration with Brain Iron Accumulation 5

About this section

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

41
Brain, Globus Pallidus, Eye
Sources

Publications for Neurodegeneration with Brain Iron Accumulation 5

About this section

Articles related to Neurodegeneration with Brain Iron Accumulation 5:

(show all 12)
# Title Authors Year
1
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
2
Clinical and Imaging Presentation of aA Patient with Beta-Propeller Protein-Associated Neurodegeneration, aA Rare and Sporadic form of Neurodegeneration with Brain Iron Accumulation (NBIA). ( 28643035 )
2017
3
A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of<i>WDR45</i>. ( 29082105 )
2017
4
[A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood]. ( 27349085 )
2016
5
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
6
High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism. ( 25744623 )
2015
7
Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy. ( 26123052 )
2015
8
Basal Ganglia Calcification in a Patient With Beta-Propeller Protein-Associated Neurodegeneration. ( 25301227 )
2014
9
Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration. ( 24610255 )
2014
10
Characteristic MRI findings in beta-propeller protein-associated neurodegeneration (BPAN). ( 24790802 )
2014
11
Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: Novel mutations and neuropsychiatric phenotype in three adult patients. ( 24368176 )
2013
12
Beta-Propeller Protein-Associated Neurodegeneration ( 28211668 )
1993
Sources

Variations for Neurodegeneration with Brain Iron Accumulation 5

About this section

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

6
(show top 50) (show all 70)
# 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.969dupT (p.Val324Cysfs) duplication Likely pathogenic rs797046105 GRCh38 Chromosome X, 49075143: 49075143
14 WDR45 NM_007075.3(WDR45): c.969dupT (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 Likely pathogenic rs864309661 GRCh38 Chromosome X, 49077715: 49077717
22 WDR45 NM_007075.3(WDR45): c.161_163delTGG (p.Val54del) deletion Likely pathogenic 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 GRCh37 Chromosome X, 48933022: 48933022
30 WDR45 NM_007075.3(WDR45): c.830+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome X, 49075363: 49075363
31 WDR45 NM_007075.3(WDR45): c.841G> A (p.Val281Met) single nucleotide variant Benign rs149509552 GRCh37 Chromosome X, 48932930: 48932930
32 WDR45 NM_007075.3(WDR45): c.841G> A (p.Val281Met) single nucleotide variant Benign rs149509552 GRCh38 Chromosome X, 49075271: 49075271
33 WDR45 NM_007075.3(WDR45): c.939C> T (p.Phe313=) single nucleotide variant Likely benign rs199814778 GRCh38 Chromosome X, 49075173: 49075173
34 WDR45 NM_007075.3(WDR45): c.939C> T (p.Phe313=) single nucleotide variant Likely benign rs199814778 GRCh37 Chromosome X, 48932832: 48932832
35 WDR45 NM_007075.3(WDR45): c.55+2_55+3del deletion Pathogenic rs1057519622 GRCh37 Chromosome X, 48935697: 48935698
36 WDR45 NM_007075.3(WDR45): c.55+2_55+3del deletion Pathogenic rs1057519622 GRCh38 Chromosome X, 49078038: 49078039
37 WDR45 NM_007075.3(WDR45): c.354C> T (p.Ile118=) single nucleotide variant Benign rs140596058 GRCh37 Chromosome X, 48934174: 48934174
38 WDR45 NM_007075.3(WDR45): c.354C> T (p.Ile118=) single nucleotide variant Benign rs140596058 GRCh38 Chromosome X, 49076515: 49076515
39 WDR45 NM_007075.3(WDR45): c.503G> A (p.Gly168Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs1131691592 GRCh37 Chromosome X, 48933541: 48933541
40 WDR45 NM_007075.3(WDR45): c.503G> A (p.Gly168Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs1131691592 GRCh38 Chromosome X, 49075882: 49075882
41 WDR45 NM_007075.3(WDR45): c.355G> A (p.Val119Met) single nucleotide variant Uncertain significance rs782302447 GRCh38 Chromosome X, 49076514: 49076514
42 WDR45 NM_007075.3(WDR45): c.355G> A (p.Val119Met) single nucleotide variant Uncertain significance rs782302447 GRCh37 Chromosome X, 48934173: 48934173
43 WDR45 NM_007075.3(WDR45): c.440-2A> C single nucleotide variant Pathogenic rs886041693 GRCh38 Chromosome X, 49075947: 49075947
44 WDR45 NM_007075.3(WDR45): c.440-2A> C single nucleotide variant Pathogenic rs886041693 GRCh37 Chromosome X, 48933606: 48933606
45 WDR45 NM_007075.3(WDR45): c.176G> C (p.Arg59Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 48935361: 48935361
46 WDR45 NM_007075.3(WDR45): c.176G> C (p.Arg59Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 49077702: 49077702
47 WDR45 NM_007075.3(WDR45): c.977-9delC deletion Benign rs782179321 GRCh38 Chromosome X, 49074921: 49074921
48 WDR45 NM_007075.3(WDR45): c.977-9delC deletion Benign rs782179321 GRCh37 Chromosome X, 48932580: 48932580
49 WDR45 NM_007075.3(WDR45): c.367C> T (p.Arg123Cys) single nucleotide variant Uncertain significance rs782643042 GRCh37 Chromosome X, 48934161: 48934161
50 WDR45 NM_007075.3(WDR45): c.367C> T (p.Arg123Cys) single nucleotide variant Uncertain significance rs782643042 GRCh38 Chromosome X, 49076502: 49076502
Sources

Expression for Neurodegeneration with Brain Iron Accumulation 5

About this section
Search GEO for disease gene expression data for Neurodegeneration with Brain Iron Accumulation 5.
Sources

Pathways for Neurodegeneration with Brain Iron Accumulation 5

About this section

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

# Super pathways Score Top Affiliating Genes
1
Pantothenate and CoA biosynthesis 37
9.9 COASY PANK2
Sources

GO Terms for Neurodegeneration with Brain Iron Accumulation 5

About this section

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

Sources for Neurodegeneration with Brain Iron Accumulation 5

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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
Content
Loading form....