NBIA5
MCID: NRD032
MIFTS: 56

Neurodegeneration with Brain Iron Accumulation 5 (NBIA5)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Data Licensing
For inquiries, contact:

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 11 24 19 42 73 28 5 14 71
Beta-Propeller Protein-Associated Neurodegeneration 57 11 24 19 42 58 73 75
Nbia5 57 11 24 19 42 58 73
Bpan 57 11 24 19 42 58 73
Static Encephalopathy of Childhood with Neurodegeneration in Adulthood 57 11 19 42 58 73
Senda 57 11 19 42 58 73
Neurodegeneration with Brain Iron Accumulation Type 5 19 58
Static Encephalopathy of Childhood with Neurdegeneration in Adulthood 19
Neurodegeneration, with Brain Iron Accululation, Type 5 38
Neurodegeneration with Brain Iron Accululation 5 19

Characteristics:


Inheritance:

X-linked dominant 57

Prevelance:

Beta-Propeller Protein-Associated Neurodegeneration: <1/1000000 (Worldwide) 58

Age Of Onset:

Beta-Propeller Protein-Associated Neurodegeneration: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Neurodegeneration with Brain Iron Accumulation 5

MedlinePlus Genetics: 42 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 parkinsonism and neurodegeneration with brain iron accumulation 6, 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 Selective autophagy and Autophagy. The drug Iron has been mentioned in the context of this disorder. Affiliated tissues include brain, globus pallidus and lung, and related phenotypes are intellectual disability and sleep disturbance

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 08-Dec-2022)

GARD: 19 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 genetic changes in the WDR45 gene. It is inherited in a dominant X-linked manner.

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.

Disease Ontology: 11 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

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 102)
# Related Disease Score Top Affiliating Genes
1 parkinsonism 30.8 WDR45 PLA2G6 PANK2 COASY C19orf12 ATP13A2
2 neurodegeneration with brain iron accumulation 6 30.4 PANK2 PANK1 COASY
3 alcohol-related neurodevelopmental disorder 30.1 WDR45 VMA21 SNX14 PLA2G6 PANK2 EPG5
4 neurodegeneration with brain iron accumulation 1 30.0 WDR45 PLA2G6 PANK2 PANK1 FA2H DCAF17
5 dystonia 29.9 WDR45 PLA2G6 PANK2 PANK1 FA2H DCAF17
6 movement disease 29.8 WDR45 SPG11 PLA2G6 PANK2 PANK1 C19orf12
7 neurodegeneration with brain iron accumulation 4 29.6 WDR45 PLA2G6 PANK2 FA2H DCAF17 C19orf12
8 neurodegeneration with brain iron accumulation 2a 29.3 WDR45 PLA2G6 PANK2 PANK1 FA2H DCAF17
9 neurodegeneration with brain iron accumulation 29.2 WIPI2 WIPI1 WDR45B WDR45 TECPR2 SPG11
10 neuroaxonal dystrophy 28.8 WDR45 TECPR2 PLA2G6 PANK2 PANK1 FA2H
11 hereditary spastic paraplegia 35 28.5 ZFYVE26 WDR45 SPG11 PLA2G6 PANK2 FA2H
12 anorexia nervosa 11.0
13 iron metabolism disease 10.6
14 lennox-gastaut syndrome 10.5
15 rett syndrome 10.4
16 autism spectrum disorder 10.4
17 encephalopathy 10.4
18 autism 10.3
19 toe syndactyly, telecanthus, and anogenital and renal malformations 10.3
20 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration 10.3
21 west syndrome 10.3
22 scoliosis 10.3
23 sleep disorder 10.3
24 cerebral atrophy 10.3
25 spasticity 10.3
26 yunis-varon syndrome 10.2 WDR45B WDR45 EPG5
27 spastic cerebral palsy 10.2 WDR45B WDR45 FA2H
28 strabismus 10.2
29 ataxia with vitamin e deficiency 10.2
30 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.2
31 astigmatism 10.2
32 cerebellar atrophy, developmental delay, and seizures 10.2
33 apraxia 10.2
34 basal ganglia calcification 10.2
35 myopia 10.2
36 focal epilepsy 10.2
37 agnosia 10.2
38 learning disability 10.2
39 fasciitis 10.2
40 ischemic fasciitis 10.2
41 mitochondrial membrane protein-associated neurodegeneration 10.2
42 children's interstitial lung disease 10.2
43 hypertonia 10.2
44 hypotonia 10.2
45 parkinsonism with spasticity, x-linked 10.1 WDR45 ATP13A2
46 cerebral degeneration 10.1 PLA2G6 PANK2 FA2H
47 choreoacanthocytosis 10.0 SNX14 PANK2 PANK1
48 neuropathy, hereditary sensory, type iic 10.0 SPG11 FA2H
49 parkinson disease 3, autosomal dominant 10.0 PLA2G6 ATP13A2
50 myopathy, x-linked, with excessive autophagy 10.0 VMA21 TECPR2 EPG5

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.03 ATP13A2 COASY EPG5 FA2H PANK2 PLA2G6
2 homeostasis/metabolism MP:0005376 10 ATP13A2 COASY EPG5 FA2H OTUD5 PANK1
3 cellular MP:0005384 9.73 ATP13A2 COASY DCAF17 EPG5 PANK1 PANK2
4 behavior/neurological MP:0005386 9.44 ATP13A2 COASY EPG5 FA2H PANK1 PANK2

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 7439-89-6 29936

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Imaging Neuromelanin and Iron in Dystonia/Parkinsonism Unknown status NCT03572114
2 TIRCON International NBIA (Neurodegeneration Associated With Brain Iron Accumulation) Patient Registry and Natural History Study Recruiting NCT05522374

Search NIH Clinical Center for Neurodegeneration with Brain Iron Accumulation 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 Neurodegeneration with Brain Iron Accumulation 5 28 WDR45

Anatomical Context for Neurodegeneration with Brain Iron Accumulation 5

Organs/tissues related to Neurodegeneration with Brain Iron Accumulation 5:

MalaCards : Brain, Globus Pallidus, Lung, Caudate Nucleus, Eye, Cortex, Liver
ODiseA: Brain, Brain-Basal Ganglia, Brain-Basal Ganglia-Caudate Nucleus, Brain-Basal Ganglia-Putamen

Publications for Neurodegeneration with Brain Iron Accumulation 5

Articles related to Neurodegeneration with Brain Iron Accumulation 5:

(show top 50) (show all 154)
# Title Authors PMID Year
1
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. 62 24 57 5
23435086 2013
2
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. 62 24 57 5
23176820 2012
3
MRI, MR spectroscopy, and diffusion tensor imaging findings in patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA). 62 57 5
22892189 2013
4
WDR45 mutations in three male patients with West syndrome. 62 24 5
27030146 2016
5
High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism. 62 24 5
25744623 2015
6
Characteristic MRI findings in beta-propeller protein-associated neurodegeneration (BPAN). 62 24 5
24790802 2014
7
Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients. 62 24 5
24368176 2014
8
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. 62 24 5
23687123 2013
9
De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain. 24 5
24621584 2014
10
Neuroimaging features of neurodegeneration with brain iron accumulation. 24 57
21920862 2012
11
Clinical and genetic delineation of neurodegeneration with brain iron accumulation. 24 57
18981035 2009
12
Functional evidence for a de novo mutation in WDR45 leading to BPAN in a Chinese girl. 62 5
31332960 2019
13
A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis. 62 5
30612247 2019
14
Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells. 62 5
30169597 2018
15
Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration. 62 5
28711740 2017
16
A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45. 62 5
29082105 2017
17
Syndromes of neurodegeneration with brain iron accumulation. 62 57
22704258 2012
18
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants. 5
34906502 2022
19
Utility of clinical exome sequencing in a complex Emirati pediatric cohort. 5
32382396 2020
20
Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy. 5
31487502 2019
21
Genomic diagnosis for children with intellectual disability and/or developmental delay. 5
28554332 2017
22
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. 5
27652284 2016
23
Clinical application of whole-exome sequencing across clinical indications. 5
26633542 2016
24
Lessons from a pair of siblings with BPAN. 62 24
26577041 2016
25
WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature. 5
26790960 2016
26
Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a Young Female With Mild Cognitive Delay. 62 24
26240209 2015
27
Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy. 62 24
26123052 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. 5
25741868 2015
29
Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration. 62 24
24610255 2014
30
Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA). 57
23212724 2013
31
BPAN: the only X-linked dominant NBIA disorder. 62 24
24209435 2013
32
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
33
Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient. 24
26173968 2016
34
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. 24
26096995 2015
35
Neurodegeneration with brain iron accumulation: diagnosis and management. 24
25614780 2015
36
The role of autophagy in neurodegenerative disease. 24
23921753 2013
37
Autophagy impairment: a crossroad between neurodegeneration and tauopathies. 24
22999309 2012
38
Design and analytical validation of clinical DNA sequencing assays. 24
22208486 2012
39
Genetics of neurodegeneration with brain iron accumulation. 24
21286947 2011
40
Infantile spasms: a U.S. consensus report. 24
20608959 2010
41
Network organization of the human autophagy system. 24
20562859 2010
42
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. 24
15602573 2004
43
WD-repeat proteins: structure characteristics, biological function, and their involvement in human diseases. 24
11814058 2001
44
Expanding the Spectrum of Early Neuroradiologic Findings in β Propeller Protein-Associated Neurodegeneration. 62
36328404 2022
45
Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN). 62
35878504 2022
46
Mutant WDR45 Leads to Altered Ferritinophagy and Ferroptosis in β-Propeller Protein-Associated Neurodegeneration. 62
36076926 2022
47
Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases. 62
34818117 2022
48
Cerebrospinal fluid neuropathological biomarkers in beta-propeller protein-associated neurodegeneration, with complicated parkinsonian phenotype. 62
35462318 2022
49
A Dictyostelium model for BPAN disease reveals a functional relationship between the WDR45/WIPI4 homolog Wdr45l and Vmp1 in the regulation of autophagy-associated PtdIns3P and ER stress. 62
34328055 2022
50
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy. 62
34130600 2022

Variations for Neurodegeneration with Brain Iron Accumulation 5

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

5 (show top 50) (show all 256)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WDR45 NM_001029896.2(WDR45):c.611G>A (p.Gly204Asp) SNV Pathogenic
242347 rs878855326 GRCh37: X:48933318-48933318
GRCh38: X:49075659-49075659
2 WDR45 NM_001029896.2(WDR45):c.55+2_55+3del DEL Pathogenic
375868 rs1057519622 GRCh37: X:48935697-48935698
GRCh38: X:49078038-49078039
3 WDR45 NM_001029896.2(WDR45):c.974-1G>A SNV Pathogenic
523624 rs1557083830 GRCh37: X:48932572-48932572
GRCh38: X:49074913-49074913
4 WDR45 NM_001029896.2(WDR45):c.584_585del (p.Ile195fs) DEL Pathogenic
280097 rs886041381 GRCh37: X:48933344-48933345
GRCh38: X:49075685-49075686
5 WDR45 NM_001029896.2(WDR45):c.342-2A>C SNV Pathogenic
689799 rs1602539140 GRCh37: X:48934185-48934185
GRCh38: X:49076526-49076526
6 WDR45 NM_001029896.2(WDR45):c.437-4_437-2delinsT INDEL Pathogenic
801319 rs1602538379 GRCh37: X:48933606-48933608
GRCh38: X:49075947-49075949
7 WDR45 NM_001029896.2(WDR45):c.827+1G>T SNV Pathogenic
803997 rs1557083958 GRCh37: X:48933022-48933022
GRCh38: X:49075363-49075363
8 WDR45 NM_001029896.2(WDR45):c.235+2T>G SNV Pathogenic
803999 rs1602540211 GRCh37: X:48935300-48935300
GRCh38: X:49077641-49077641
9 WDR45 NC_000023.10:g.(?_48932442)_(48935774_?)del DEL Pathogenic
832368 GRCh37: X:48932442-48935774
GRCh38:
10 WDR45 NM_001029896.2(WDR45):c.10C>T (p.Gln4Ter) SNV Pathogenic
947175 rs2065048388 GRCh37: X:48935745-48935745
GRCh38: X:49078086-49078086
11 WDR45 NM_001029896.2(WDR45):c.510dup (p.Leu171fs) DUP Pathogenic
975779 rs2065033946 GRCh37: X:48933530-48933531
GRCh38: X:49075871-49075872
12 WDR45 NM_001029896.2(WDR45):c.865C>T (p.Gln289Ter) SNV Pathogenic
976312 rs2065029414 GRCh37: X:48932903-48932903
GRCh38: X:49075244-49075244
13 WDR45 NM_001029896.2(WDR45):c.604del (p.Gln202fs) DEL Pathogenic
1320133 GRCh37: X:48933325-48933325
GRCh38: X:49075666-49075666
14 WDR45 NM_001029896.2(WDR45):c.891_892insT (p.Ala298fs) INSERT Pathogenic
1329495 GRCh37: X:48932876-48932877
GRCh38: X:49075217-49075218
15 WDR45 NM_001029896.2(WDR45):c.508C>T (p.Gln170Ter) SNV Pathogenic
522050 rs1557084120 GRCh37: X:48933533-48933533
GRCh38: X:49075874-49075874
16 WDR45 NM_001029896.2(WDR45):c.880del (p.Gln294fs) DEL Pathogenic
1392173 GRCh37: X:48932888-48932888
GRCh38: X:49075229-49075229
17 WDR45 NM_001029896.2(WDR45):c.1037_1038del (p.Glu346fs) MICROSAT Pathogenic
1386002 GRCh37: X:48932507-48932508
GRCh38: X:49074848-49074849
18 WDR45 NM_001029896.2(WDR45):c.579_586del (p.Asp194fs) DEL Pathogenic
1374917 GRCh37: X:48933343-48933350
GRCh38: X:49075684-49075691
19 WDR45 NM_001029896.2(WDR45):c.634C>T (p.Gln212Ter) SNV Pathogenic
41915 rs387907332 GRCh37: X:48933295-48933295
GRCh38: X:49075636-49075636
20 WDR45 NM_001029896.2(WDR45):c.434dup (p.Leu147fs) DUP Pathogenic
41914 rs387907331 GRCh37: X:48934090-48934091
GRCh38: X:49076431-49076432
21 WDR45 NM_001029896.2(WDR45):c.516G>C (p.Val172=) SNV Pathogenic
41913 rs387907330 GRCh37: X:48933525-48933525
GRCh38: X:49075866-49075866
22 WDR45 NM_001029896.2(WDR45):c.827+1G>A SNV Pathogenic
265508 rs1557083958 GRCh37: X:48933022-48933022
GRCh38: X:49075363-49075363
23 WDR45 NM_001029896.2(WDR45):c.457del (p.Ser153fs) DEL Pathogenic
848880 rs2065034268 GRCh37: X:48933584-48933584
GRCh38: X:49075925-49075925
24 WDR45 NM_001029896.2(WDR45):c.226_230del (p.Glu76fs) DEL Pathogenic
857295 rs2065045334 GRCh37: X:48935307-48935311
GRCh38: X:49077648-49077652
25 WDR45 NM_001029896.2(WDR45):c.604C>T (p.Gln202Ter) SNV Pathogenic
962128 rs2065032542 GRCh37: X:48933325-48933325
GRCh38: X:49075666-49075666
26 WDR45 NM_001029896.2(WDR45):c.797_798del (p.Leu266fs) MICROSAT Pathogenic
1072452 GRCh37: X:48933052-48933053
GRCh38: X:49075393-49075394
27 WDR45 NM_001029896.2(WDR45):c.226G>T (p.Glu76Ter) SNV Pathogenic
1073994 GRCh37: X:48935311-48935311
GRCh38: X:49077652-49077652
28 WDR45 NM_001029896.2(WDR45):c.667_668del (p.Gln223fs) MICROSAT Pathogenic
280866 rs886041994 GRCh37: X:48933261-48933262
GRCh38: X:49075602-49075603
29 WDR45 NM_001029896.2(WDR45):c.209del (p.Ser70fs) DEL Pathogenic
1075892 GRCh37: X:48935328-48935328
GRCh38: X:49077669-49077669
30 WDR45 NM_001029896.2(WDR45):c.210_213dup (p.Pro72Ter) DUP Pathogenic
567282 rs1569523537 GRCh37: X:48935323-48935324
GRCh38: X:49077664-49077665
31 WDR45 NM_001029896.2(WDR45):c.785A>C (p.His262Pro) SNV Pathogenic
1686303 GRCh37: X:48933065-48933065
GRCh38: X:49075406-49075406
32 WDR45 NM_001029896.2(WDR45):c.130+1G>C SNV Pathogenic
1686304 GRCh37: X:48935495-48935495
GRCh38: X:49077836-49077836
33 WDR45 NM_001029896.2(WDR45):c.78_79del (p.Glu26fs) MICROSAT Pathogenic
1686305 GRCh37: X:48935547-48935548
GRCh38: X:49077888-49077889
34 WDR45 NM_001029896.2(WDR45):c.599dup (p.Asn201fs) DUP Pathogenic
503923 rs1557084066 GRCh37: X:48933329-48933330
GRCh38: X:49075670-49075671
35 WDR45 NM_001029896.2(WDR45):c.371_372del (p.Tyr124fs) DEL Pathogenic
976755 rs2065038463 GRCh37: X:48934153-48934154
GRCh38: X:49076494-49076495
36 WDR45 NM_001029896.2(WDR45):c.516+1G>T SNV Pathogenic
212593 rs797046102 GRCh37: X:48933524-48933524
GRCh38: X:49075865-49075865
37 WDR45 NM_001029896.2(WDR45):c.870C>G (p.Tyr290Ter) SNV Pathogenic
545700 rs782557596 GRCh37: X:48932898-48932898
GRCh38: X:49075239-49075239
38 WDR45 NM_001029896.2(WDR45):c.827+2_827+3del DEL Pathogenic
212594 rs797046103 GRCh37: X:48933020-48933021
GRCh38: X:49075361-49075362
39 WDR45 NM_001029896.2(WDR45):c.2T>C (p.Met1Thr) SNV Pathogenic
1698942 GRCh37: X:48935753-48935753
GRCh38: X:49078094-49078094
40 WDR45 NM_001029896.2(WDR45):c.1004_1005del (p.Tyr335fs) MICROSAT Pathogenic
41911 rs387907328 GRCh37: X:48932540-48932541
GRCh38: X:49074881-49074882
41 WDR45 NM_001029896.2(WDR45):c.437-2A>C SNV Pathogenic
473122 rs886041693 GRCh37: X:48933606-48933606
GRCh38: X:49075947-49075947
42 WDR45 NM_001029896.2(WDR45):c.516+1G>A SNV Pathogenic
545080 rs797046102 GRCh37: X:48933524-48933524
GRCh38: X:49075865-49075865
43 WDR45 NM_001029896.2(WDR45):c.827+1G>C SNV Pathogenic
573902 rs1557083958 GRCh37: X:48933022-48933022
GRCh38: X:49075363-49075363
44 WDR45 NM_001029896.2(WDR45):c.56-2A>G SNV Pathogenic
649495 rs1602540595 GRCh37: X:48935572-48935572
GRCh38: X:49077913-49077913
45 WDR45 NM_001029896.2(WDR45):c.1005T>A (p.Tyr335Ter) SNV Pathogenic
663120 rs781972464 GRCh37: X:48932540-48932540
GRCh38: X:49074881-49074881
46 WDR45 NM_001029896.2(WDR45):c.332_338del (p.Arg111fs) DEL Pathogenic
1070071 GRCh37: X:48934307-48934313
GRCh38: X:49076648-49076654
47 WDR45 NM_001029896.2(WDR45):c.938del (p.Gly313fs) DEL Pathogenic
1076011 GRCh37: X:48932830-48932830
GRCh38: X:49075171-49075171
48 WDR45 NM_001029896.2(WDR45):c.517-2A>G SNV Pathogenic
659190 rs1602538148 GRCh37: X:48933414-48933414
GRCh38: X:49075755-49075755
49 WDR45 NM_001029896.2(WDR45):c.1005T>G (p.Tyr335Ter) SNV Pathogenic
935908 rs781972464 GRCh37: X:48932540-48932540
GRCh38: X:49074881-49074881
50 WDR45 NM_001029896.2(WDR45):c.1029dup (p.Asn344fs) DUP Pathogenic
944567 rs2065026848 GRCh37: X:48932515-48932516
GRCh38: X:49074856-49074857

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

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 lysosome GO:0005764 10.03 ZFYVE26 WDR45B VMA21 SNX14 EPG5 ATP13A2
2 extrinsic component of membrane GO:0019898 9.85 ATG2A WDR45 WDR45B WIPI1 WIPI2
3 phagophore assembly site GO:0000407 9.65 ATG2A WDR45 WDR45B WIPI1 WIPI2
4 phagophore assembly site membrane GO:0034045 9.32 WIPI2 WIPI1 WDR45B WDR45 ATG2A

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cellular response to starvation GO:0009267 10.08 WIPI2 WIPI1 WDR45B WDR45
2 autophagosome assembly GO:0000045 10.07 ATG2A WDR45 WDR45B WIPI1 WIPI2
3 positive regulation of autophagosome assembly GO:2000786 9.93 ATG2A WDR45 WIPI1
4 protein localization to phagophore assembly site GO:0034497 9.92 WIPI2 WIPI1 WDR45B WDR45
5 coenzyme A biosynthetic process GO:0015937 9.91 PANK2 PANK1 COASY
6 autophagosome maturation GO:0097352 9.89 WIPI2 SNX14 EPG5
7 autophagosome organization GO:1905037 9.88 ZFYVE26 SPG11 ATP13A2
8 protein lipidation GO:0006497 9.86 WDR45 WDR45B WIPI1 WIPI2
9 autophagy of mitochondrion GO:0000422 9.85 WIPI2 WIPI1 WDR45B WDR45 ATG2A
10 autophagy of nucleus GO:0044804 9.56 WIPI2 WIPI1 WDR45B WDR45
11 autophagy GO:0006914 9.47 WIPI2 WIPI1 WDR45B WDR45 TECPR2 EPG5

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-phosphate binding GO:0032266 9.73 ZFYVE26 WIPI2 WIPI1 WDR45B WDR45 ATG2A
2 lipid binding GO:0008289 9.63 ZFYVE26 WIPI2 WIPI1 WDR45B WDR45 ATP13A2
3 pantothenate kinase activity GO:0004594 9.56 PANK2 PANK1
4 phosphatidylinositol-3,5-bisphosphate binding GO:0080025 9.4 WIPI2 WIPI1 WDR45B WDR45 SNX14 ATP13A2

Sources for Neurodegeneration with Brain Iron Accumulation 5

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....