NBIA5
MCID: NRD032
MIFTS: 50

Neurodegeneration with Brain Iron Accumulation 5 (NBIA5)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle 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 57 12 25 20 43 72 29 6 15 70
Beta-Propeller Protein-Associated Neurodegeneration 57 12 25 20 43 58 72 29
Nbia5 57 12 25 20 43 58 72
Bpan 57 12 25 20 43 58 72
Static Encephalopathy of Childhood with Neurodegeneration in Adulthood 57 12 20 43 58 72
Senda 57 12 20 43 58 72
Neurodegeneration with Brain Iron Accumulation Type 5 20 58
Neurodegeneration with Brain Iron Accululation 5 20 13
Static Encephalopathy of Childhood with Neurodegeneration in Adulthood; Senda 57
Static Encephalopathy of Childhood with Neurdegeneration in Adulthood 20
Beta-Propeller Protein-Associated Neurodegeneration; Bpan 57
Neurodegeneration, with Brain Iron Accululation, Type 5 39

Characteristics:

Orphanet epidemiological data:

58
beta-propeller protein-associated neurodegeneration
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
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:

31
neurodegeneration with brain iron accumulation 5:
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Neurodegeneration with Brain Iron Accumulation 5

MedlinePlus Genetics : 43 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.Many people with BPAN have recurrent seizures (epilepsy) beginning in infancy or early childhood. Several different types of seizures can occur in this disorder, even in the same individual. Often the first type to occur are febrile seizures, which are triggered by a high fever. Affected individuals can also experience generalized tonic-clonic seizures (also known as grand mal seizures). This type of seizure affects the entire body, causing muscle rigidity, convulsions, and loss of consciousness. Other seizure types that can occur in this disorder include short lapses in awareness that can have the appearance of staring spells or daydreaming (absence seizures, also called petit mal seizures), sudden episodes of weak muscle tone (atonic seizures), involuntary muscle twitches (myoclonic seizures), or more pronounced movements called epileptic spasms. Some individuals have seizure patterns that resemble those in epileptic syndromes, such as West syndrome or Lennox-Gastaut syndrome.Children with BPAN also have intellectual disability, delayed development including significant problems with vocabulary and producing speech (expressive language), and difficulty coordinating movements (ataxia). Ataxia can affect the ability to walk and perform fine motor skills such as using utensils. Affected individuals can have behavioral changes that are often compared to features of a disorder called Rett syndrome. These features include repeated hand wringing or clasping (stereotypic hand movements); teeth grinding (bruxism); sleep disturbances; and problems with communication and social interaction characteristic of autism spectrum disorder.In late adolescence or early adulthood, individuals with BPAN may begin to experience a gradual loss of intellectual functioning (cognitive decline) that can lead to a severe loss of thinking and reasoning abilities (dementia). Worsening problems with movement also occur, including dystonia and parkinsonism. Dystonia is a condition characterized by involuntary, sustained muscle contractions. In BPAN, the dystonia often starts in the arms. Parkinsonism can include unusually slow movement (bradykinesia), rigidity, tremors, an inability to hold the body upright and balanced (postural instability), and a shuffling walk that can cause recurrent falls.The lifespan of people with BPAN varies. With proper management of their signs and symptoms, affected individuals can live into middle age. Death may result from complications of dementia or movement problems, such as injuries from falls or swallowing difficulties (dysphagia) that can lead to a bacterial lung infection called aspiration pneumonia.

MalaCards based summary : Neurodegeneration with Brain Iron Accumulation 5, also known as beta-propeller protein-associated neurodegeneration, is related to alcohol-related neurodevelopmental disorder 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 5 is WDR45 (WD Repeat Domain 45), and among its related pathways/superpathways are Biosynthesis of cofactors and Spinocerebellar ataxia. Affiliated tissues include brain, eye and globus pallidus, and related phenotypes are intellectual disability and sleep disturbance

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.

GARD : 20 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.

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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 alcohol-related neurodevelopmental disorder 30.1 WIPI2 WDR45 SNX14 EPG5 C19orf12
2 movement disease 29.5 WDR45 PLA2G6 PANK2 PANK1 FA2H C19orf12
3 dystonia 29.4 WDR45 PLA2G6 PANK2 FA2H DCAF17 COASY
4 neurodegeneration with brain iron accumulation 29.4 WIPI1 WDR45 TECPR2 SNX14 PLA2G6 PANK2
5 neuroaxonal dystrophy 29.1 WDR45 TECPR2 PLA2G6 PANK2 PANK1 FA2H
6 neurodegeneration with brain iron accumulation 2a 28.5 WDR45 PLA2G6 PANK2 PANK1 FA2H DCAF17
7 neurodegeneration with brain iron accumulation 1 28.4 WDR45 PLA2G6 PANK2 PANK1 FA2H DCAF17
8 anorexia nervosa 10.9
9 parkinsonism 10.8
10 alacrima, achalasia, and mental retardation syndrome 10.6
11 encephalopathy 10.5
12 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.3
13 scoliosis 10.3
14 hemosiderosis 10.3
15 learning disability 10.3
16 fasciitis 10.3
17 ischemic fasciitis 10.3
18 cerebral atrophy 10.3
19 hypotonia 10.3
20 spasticity 10.3
21 rare hereditary hemochromatosis 10.3
22 west syndrome 10.3
23 strabismus 10.2
24 rett syndrome 10.2
25 astigmatism 10.2
26 lennox-gastaut syndrome 10.2
27 autism spectrum disorder 10.2
28 basal ganglia calcification 10.2
29 myopia 10.2
30 focal epilepsy 10.2
31 agnosia 10.2
32 sleep disorder 10.2
33 mechanical strabismus 10.2
34 hypertonia 10.2
35 seizure disorder 10.2
36 congenital disorder of glycosylation, type ip 10.0 PANK2 C19orf12
37 spastic paraplegia 43, autosomal recessive 10.0 PLA2G6 FA2H C19orf12
38 complex hereditary spastic paraplegia 10.0 FA2H ATP13A2
39 choreatic disease 9.9 PANK2 C19orf12 ATP13A2
40 dementia 9.9
41 dyslexia 9.9
42 spastic paraplegia 49, autosomal recessive 9.9 WDR45 TECPR2 SNX14 EPG5
43 spinocerebellar ataxia, autosomal recessive 20 9.9 WDR45 TECPR2 SNX14 EPG5
44 vici syndrome 9.9 WDR45 TECPR2 SNX14 EPG5
45 alzheimer disease 9.9
46 paraplegia 9.9 TECPR2 FA2H C19orf12 ATP13A2
47 spinocerebellar ataxia, autosomal recessive 24 9.8 FA2H ATP13A2
48 choreoacanthocytosis 9.8 PANK2 PANK1 C19orf12
49 oromandibular dystonia 9.7 PLA2G6 PANK2 FA2H C19orf12 ATP13A2
50 parkinson disease 15, autosomal recessive early-onset 9.7 PLA2G6 PANK2 FA2H C19orf12 ATP13A2

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:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 sleep disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0002360
3 abnormality of eye movement 58 31 frequent (33%) Frequent (79-30%) HP:0000496
4 tremor 58 31 frequent (33%) Frequent (79-30%) HP:0001337
5 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
6 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
7 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
8 rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0002063
9 spastic paraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0002313
10 cerebral atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002059
11 dementia 58 31 frequent (33%) Frequent (79-30%) HP:0000726
12 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
13 parkinsonism 58 31 frequent (33%) Frequent (79-30%) HP:0001300
14 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
15 progressive encephalopathy 58 31 frequent (33%) Frequent (79-30%) HP:0002448
16 frontal release signs 58 31 frequent (33%) Frequent (79-30%) HP:0000743
17 iron accumulation in substantia nigra 58 31 frequent (33%) Frequent (79-30%) HP:0012678
18 abnormal autonomic nervous system physiology 31 frequent (33%) HP:0012332
19 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
20 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000718
21 seizure 31 occasional (7.5%) HP:0001250
22 seizures 58 Occasional (29-5%)
23 dysautonomia 58 Frequent (79-30%)
24 absent speech 31 HP:0001344
25 iron accumulation in brain 58 Frequent (79-30%)
26 neurodegeneration 31 HP:0002180

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
tremor
dysautonomia
dystonia
cerebellar atrophy
rigidity
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 (Updated 20-May-2021)

UMLS symptoms related to Neurodegeneration with Brain Iron Accumulation 5:


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

MGI Mouse Phenotypes related to Neurodegeneration with Brain Iron Accumulation 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.36 ATP13A2 COASY EPG5 FA2H PANK1 PANK2

Drugs & Therapeutics for Neurodegeneration with Brain Iron Accumulation 5

Search Clinical Trials , 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 29 WDR45
2 Neurodegeneration with Brain Iron Accumulation 5 29 WDR45

Anatomical Context for Neurodegeneration with Brain Iron Accumulation 5

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

40
Brain, Eye, Globus Pallidus

Publications for Neurodegeneration with Brain Iron Accumulation 5

Articles related to Neurodegeneration with Brain Iron Accumulation 5:

(show all 49)
# Title Authors PMID Year
1
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. 6 57 25
23435086 2013
2
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. 6 57 25
23176820 2012
3
MRI, MR spectroscopy, and diffusion tensor imaging findings in patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA). 6 57
22892189 2013
4
WDR45 mutations in three male patients with West syndrome. 6 25
27030146 2016
5
High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism. 25 6
25744623 2015
6
De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain. 6 25
24621584 2014
7
Characteristic MRI findings in beta-propeller protein-associated neurodegeneration (BPAN). 6 25
24790802 2014
8
Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients. 6 25
24368176 2014
9
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. 6 25
23687123 2013
10
Neuroimaging features of neurodegeneration with brain iron accumulation. 25 57
21920862 2012
11
Clinical and genetic delineation of neurodegeneration with brain iron accumulation. 25 57
18981035 2009
12
A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis. 6
30612247 2019
13
Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants. 6
29981852 2019
14
Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells. 6
30169597 2018
15
Beta-propeller protein-associated neurodegeneration: a case report and review of the literature. 6
29445477 2018
16
Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45. 6
29171013 2018
17
Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration. 6
28711740 2017
18
Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report. 6
28932395 2017
19
Genomic diagnosis for children with intellectual disability and/or developmental delay. 6
28554332 2017
20
Intragenic deletion of the WDR45 gene in a male with encephalopathy, severe psychomotor disability, and epilepsy. 6
28371320 2017
21
A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45. 6
29082105 2017
22
Severe infantile male encephalopathy is a result of early post-zygotic WDR45 somatic mutation. 6
27681470 2016
23
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. 6
27652284 2016
24
Clinical application of whole-exome sequencing across clinical indications. 6
26633542 2016
25
WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature. 6
26790960 2016
26
Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation. 6
26609730 2015
27
Stereotypic Hand Movements in β-Propeller Protein-Associated Neurodegeneration: First Video Report. 6
30713893 2015
28
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
29
De novo mutations in moderate or severe intellectual disability. 6
25356899 2014
30
Genome sequencing identifies major causes of severe intellectual disability. 6
24896178 2014
31
Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA). 57
23212724 2013
32
Syndromes of neurodegeneration with brain iron accumulation. 57
22704258 2012
33
Lessons from a pair of siblings with BPAN. 25
26577041 2016
34
Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient. 25
26173968 2016
35
Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a Young Female With Mild Cognitive Delay. 25
26240209 2015
36
Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings. 25
26096995 2015
37
Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy. 25
26123052 2015
38
Neurodegeneration with brain iron accumulation: diagnosis and management. 25
25614780 2015
39
Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration. 25
24610255 2014
40
The role of autophagy in neurodegenerative disease. 25
23921753 2013
41
BPAN: the only X-linked dominant NBIA disorder. 25
24209435 2013
42
Autophagy impairment: a crossroad between neurodegeneration and tauopathies. 25
22999309 2012
43
Design and analytical validation of clinical DNA sequencing assays. 25
22208486 2012
44
Genetics of neurodegeneration with brain iron accumulation. 25
21286947 2011
45
Infantile spasms: a U.S. consensus report. 25
20608959 2010
46
Network organization of the human autophagy system. 25
20562859 2010
47
WIPI-1alpha (WIPI49), a member of the novel 7-bladed WIPI protein family, is aberrantly expressed in human cancer and is linked to starvation-induced autophagy. 25
15602573 2004
48
WD-repeat proteins: structure characteristics, biological function, and their involvement in human diseases. 25
11814058 2001
49
Ferrous Iron Up-regulation in Fibroblasts of Patients with Beta Propeller Protein-Associated Neurodegeneration (BPAN). 61
28261264 2017

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 123)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WDR45 NM_001029896.2(WDR45):c.1002_1003AT[1] (p.Tyr335fs) Microsatellite Pathogenic 41911 rs387907328 GRCh37: X:48932540-48932541
GRCh38: X:49074881-49074882
2 WDR45 NM_001029896.2(WDR45):c.697C>T (p.Arg233Ter) SNV Pathogenic 41912 rs387907329 GRCh37: X:48933232-48933232
GRCh38: X:49075573-49075573
3 WDR45 NM_001029896.2(WDR45):c.516G>C (p.Val172=) SNV Pathogenic 41913 rs387907330 GRCh37: X:48933525-48933525
GRCh38: X:49075866-49075866
4 WDR45 NM_001029896.2(WDR45):c.434dup (p.Leu147fs) Duplication Pathogenic 41914 rs387907331 GRCh37: X:48934090-48934091
GRCh38: X:49076431-49076432
5 WDR45 NM_001029896.2(WDR45):c.634C>T (p.Gln212Ter) SNV Pathogenic 41915 rs387907332 GRCh37: X:48933295-48933295
GRCh38: X:49075636-49075636
6 WDR45 NM_001029896.2(WDR45):c.516+1G>T SNV Pathogenic 212593 rs797046102 GRCh37: X:48933524-48933524
GRCh38: X:49075865-49075865
7 WDR45 NM_001029896.2(WDR45):c.827+2_827+3del Deletion Pathogenic 212594 rs797046103 GRCh37: X:48933020-48933021
GRCh38: X:49075361-49075362
8 WDR45 NM_001029896.2(WDR45):c.611G>A (p.Gly204Asp) SNV Pathogenic 242347 rs878855326 GRCh37: X:48933318-48933318
GRCh38: X:49075659-49075659
9 WDR45 NM_001029896.2(WDR45):c.55+2_55+3del Deletion Pathogenic 375868 rs1057519622 GRCh37: X:48935697-48935698
GRCh38: X:49078038-49078039
10 WDR45 NM_001029896.2(WDR45):c.437-2A>C SNV Pathogenic 473122 rs886041693 GRCh37: X:48933606-48933606
GRCh38: X:49075947-49075947
11 WDR45 NM_001029896.2(WDR45):c.827+1G>A SNV Pathogenic 265508 rs1557083958 GRCh37: X:48933022-48933022
GRCh38: X:49075363-49075363
12 WDR45 NM_001029896.2(WDR45):c.974-1G>A SNV Pathogenic 523624 rs1557083830 GRCh37: X:48932572-48932572
GRCh38: X:49074913-49074913
13 WDR45 NM_001029896.2(WDR45):c.408dup (p.Glu137Ter) Duplication Pathogenic 540345 rs1557084239 GRCh37: X:48934116-48934117
GRCh38: X:49076457-49076458
14 WDR45 NM_001029896.2(WDR45):c.210_213dup (p.Pro72Ter) Duplication Pathogenic 567282 rs1569523537 GRCh37: X:48935323-48935324
GRCh38: X:49077664-49077665
15 WDR45 NM_001029896.2(WDR45):c.516+1G>A SNV Pathogenic 545080 rs797046102 GRCh37: X:48933524-48933524
GRCh38: X:49075865-49075865
16 WDR45 NM_001029896.2(WDR45):c.827+1G>C SNV Pathogenic 573902 rs1557083958 GRCh37: X:48933022-48933022
GRCh38: X:49075363-49075363
17 WDR45 NM_001029896.2(WDR45):c.19C>T (p.Arg7Ter) SNV Pathogenic 280098 rs886041382 GRCh37: X:48935736-48935736
GRCh38: X:49078077-49078077
18 WDR45 NM_001029896.2(WDR45):c.56-2A>G SNV Pathogenic 649495 rs1602540595 GRCh37: X:48935572-48935572
GRCh38: X:49077913-49077913
19 WDR45 NM_001029896.2(WDR45):c.870C>G (p.Tyr290Ter) SNV Pathogenic 545700 rs782557596 GRCh37: X:48932898-48932898
GRCh38: X:49075239-49075239
20 WDR45 NM_001029896.2(WDR45):c.517-2A>G SNV Pathogenic 659190 rs1602538148 GRCh37: X:48933414-48933414
GRCh38: X:49075755-49075755
21 WDR45 NM_001029896.2(WDR45):c.1005T>A (p.Tyr335Ter) SNV Pathogenic 663120 rs781972464 GRCh37: X:48932540-48932540
GRCh38: X:49074881-49074881
22 WDR45 NM_001029896.2(WDR45):c.584_585del (p.Ile195fs) Deletion Pathogenic 280097 rs886041381 GRCh37: X:48933344-48933345
GRCh38: X:49075685-49075686
23 WDR45 NM_001029896.2(WDR45):c.342-2A>C SNV Pathogenic 689799 rs1602539140 GRCh37: X:48934185-48934185
GRCh38: X:49076526-49076526
24 WDR45 NM_001029896.2(WDR45):c.437-4_437-2delinsT Indel Pathogenic 801319 rs1602538379 GRCh37: X:48933606-48933608
GRCh38: X:49075947-49075949
25 WDR45 NM_001029896.2(WDR45):c.827+1G>T SNV Pathogenic 803997 rs1557083958 GRCh37: X:48933022-48933022
GRCh38: X:49075363-49075363
26 WDR45 NM_001029896.2(WDR45):c.235+2T>G SNV Pathogenic 803999 rs1602540211 GRCh37: X:48935300-48935300
GRCh38: X:49077641-49077641
27 WDR45 NC_000023.10:g.(?_48932442)_(48935774_?)del Deletion Pathogenic 832368 GRCh37: X:48932442-48935774
GRCh38:
28 WDR45 NM_001029896.2(WDR45):c.457del (p.Ser153fs) Deletion Pathogenic 848880 GRCh37: X:48933584-48933584
GRCh38: X:49075925-49075925
29 WDR45 NM_001029896.2(WDR45):c.1005T>G (p.Tyr335Ter) SNV Pathogenic 935908 GRCh37: X:48932540-48932540
GRCh38: X:49074881-49074881
30 WDR45 NM_001029896.2(WDR45):c.235+1G>A SNV Pathogenic 871503 GRCh37: X:48935301-48935301
GRCh38: X:49077642-49077642
31 WDR45 NM_001029896.2(WDR45):c.1029dup (p.Asn344fs) Duplication Pathogenic 944567 GRCh37: X:48932515-48932516
GRCh38: X:49074856-49074857
32 WDR45 NM_001029896.2(WDR45):c.226_230del (p.Glu76fs) Deletion Pathogenic 857295 GRCh37: X:48935307-48935311
GRCh38: X:49077648-49077652
33 WDR45 NM_001029896.2(WDR45):c.10C>T (p.Gln4Ter) SNV Pathogenic 947175 GRCh37: X:48935745-48935745
GRCh38: X:49078086-49078086
34 WDR45 NM_001029896.2(WDR45):c.746_748CCT[1] (p.Ser250del) Microsatellite Pathogenic 418542 rs1064793294 GRCh37: X:48933099-48933101
GRCh38: X:49075440-49075442
35 WDR45 NM_001029896.2(WDR45):c.510dup (p.Leu171fs) Duplication Pathogenic 975779 GRCh37: X:48933530-48933531
GRCh38: X:49075871-49075872
36 WDR45 NM_001029896.2(WDR45):c.787_800del (p.Ile263fs) Deletion Pathogenic 976172 GRCh37: X:48933050-48933063
GRCh38: X:49075391-49075404
37 WDR45 NM_001029896.2(WDR45):c.865C>T (p.Gln289Ter) SNV Pathogenic 976312 GRCh37: X:48932903-48932903
GRCh38: X:49075244-49075244
38 WDR45 NM_001029896.2(WDR45):c.604C>T (p.Gln202Ter) SNV Pathogenic 962128 GRCh37: X:48933325-48933325
GRCh38: X:49075666-49075666
39 WDR45 NM_001029896.2(WDR45):c.371_372del (p.Tyr124fs) Deletion Pathogenic 976755 GRCh37: X:48934153-48934154
GRCh38: X:49076494-49076495
40 WDR45 NM_001029896.2(WDR45):c.827+5G>C SNV Pathogenic 941147 GRCh37: X:48933018-48933018
GRCh38: X:49075359-49075359
41 WDR45 NM_001029896.2(WDR45):c.516+1_516+3del Microsatellite Pathogenic/Likely pathogenic 488640 rs1557084113 GRCh37: X:48933522-48933524
GRCh38: X:49075863-49075865
42 WDR45 NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) SNV Pathogenic/Likely pathogenic 212592 rs797046101 GRCh37: X:48934128-48934128
GRCh38: X:49076469-49076469
43 WDR45 NM_001029896.2(WDR45):c.158_160TGG[1] (p.Val54del) Microsatellite Likely pathogenic 218903 rs864309661 GRCh37: X:48935374-48935376
GRCh38: X:49077715-49077717
44 WDR45 NM_001029896.2(WDR45):c.973+1G>A SNV Likely pathogenic 224075 rs869312661 GRCh37: X:48932794-48932794
GRCh38: X:49075135-49075135
45 WDR45 NM_001029896.2(WDR45):c.966dup (p.Val323fs) Duplication Likely pathogenic 212596 rs797046105 GRCh37: X:48932801-48932802
GRCh38: X:49075142-49075143
46 WDR45 NM_001029896.2(WDR45):c.1030A>G (p.Asn344Asp) SNV Likely pathogenic 212591 rs797046100 GRCh37: X:48932515-48932515
GRCh38: X:49074856-49074856
47 WDR45 NM_001029896.2(WDR45):c.950_951dup (p.Lys318fs) Duplication Likely pathogenic 488639 rs1557083878 GRCh37: X:48932816-48932817
GRCh38: X:49075157-49075158
48 WDR45 NM_001029896.2(WDR45):c.131-2A>G SNV Likely pathogenic 540346 rs1557084491 GRCh37: X:48935408-48935408
GRCh38: X:49077749-49077749
49 WDR45 NM_001029896.2(WDR45):c.437-1G>A SNV Likely pathogenic 666584 rs1602538372 GRCh37: X:48933605-48933605
GRCh38: X:49075946-49075946
50 WDR45 NM_001029896.2(WDR45):c.2T>A (p.Met1Lys) SNV Likely pathogenic 620005 rs1569523565 GRCh37: X:48935753-48935753
GRCh38: X:49078094-49078094

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
Show member pathways
11.72 PANK2 PANK1 COASY
2 11.59 WIPI2 WIPI1 ATG2A
3 11.47 WIPI2 WIPI1 ATG2A
4
Show member pathways
11.02 WIPI2 WIPI1 WDR45B WDR45 ATG2A
5 10.45 PANK2 PANK1 COASY

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 cytosol GO:0005829 10 WIPI2 WIPI1 WDR45B WDR45 SNX14 PLA2G6
2 lysosome GO:0005764 9.62 WDR45B SNX14 EPG5 ATP13A2
3 extrinsic component of membrane GO:0019898 9.55 WIPI2 WIPI1 WDR45B WDR45 ATG2A
4 autophagosome membrane GO:0000421 9.37 WIPI1 ATP13A2
5 phagophore assembly site GO:0000407 9.35 WIPI2 WIPI1 WDR45B WDR45 ATG2A
6 phagophore assembly site membrane GO:0034045 9.02 WIPI2 WIPI1 WDR45B WDR45 ATG2A

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

# Name GO ID Score Top Affiliating Genes
1 autophagosome assembly GO:0000045 9.77 WIPI2 WIPI1 WDR45B WDR45 ATG2A
2 cellular response to starvation GO:0009267 9.73 WIPI2 WIPI1 WDR45B WDR45
3 autophagosome maturation GO:0097352 9.63 WIPI2 SNX14 EPG5
4 protein localization to phagophore assembly site GO:0034497 9.62 WIPI2 WIPI1 WDR45B WDR45
5 coenzyme A biosynthetic process GO:0015937 9.58 PANK2 PANK1 COASY
6 protein lipidation GO:0006497 9.56 WIPI2 WIPI1 WDR45B WDR45
7 autophagy of mitochondrion GO:0000422 9.55 WIPI2 WIPI1 WDR45B WDR45 ATG2A
8 autophagy GO:0006914 9.28 WIPI2 WIPI1 WDR45B WDR45 TECPR2 EPG5
9 autophagy of nucleus GO:0044804 9.26 WIPI2 WIPI1 WDR45B WDR45

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

# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.55 WIPI2 WIPI1 WDR45B WDR45 ATP13A2
2 phosphatidylinositol-3-phosphate binding GO:0032266 9.35 WIPI2 WIPI1 WDR45B WDR45 ATG2A
3 pantothenate kinase activity GO:0004594 9.26 PANK2 PANK1
4 phosphatidylinositol-3,5-bisphosphate binding GO:0080025 9.1 WIPI2 WIPI1 WDR45B WDR45 SNX14 ATP13A2

Sources for Neurodegeneration with Brain Iron Accumulation 5

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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