NBIA4
MCID: NRD014
MIFTS: 45

Neurodegeneration with Brain Iron Accumulation 4 (NBIA4)

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

Aliases & Classifications for Neurodegeneration with Brain Iron Accumulation 4

MalaCards integrated aliases for Neurodegeneration with Brain Iron Accumulation 4:

Name: Neurodegeneration with Brain Iron Accumulation 4 56 12 73 29 13 6 15 71
Nbia4 56 12 58 73
Mpan 56 12 58 73
Neurodegeneration with Brain Iron Accumulation Due to C19orf12 Mutation 12 58
Neurodegeneration with Brain Iron Accumulation Type 4 12 58
Mitochondrial Protein-Associated Neurodegeneration 56 12
Nbia Due to C19orf12 Mutation 12 58
Mitochondrial Membrane Protein-Associated Neurodegeneration 58
Mitochondrial Membrane Protein Associated Neurodegeneration 73
Mitochondrial Protein-Associated Neurodegeneration; Mpan 56
Neurodegeneration, with Brain Iron Accumulation, Type 4 39

Characteristics:

Orphanet epidemiological data:

58
mitochondrial membrane protein-associated neurodegeneration
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood; Age of death: adult,young Adult;

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable phenotype
progressive disorder
later onset has been reported
onset usually in first decade
some patients may become wheelchair-bound
de novo heterozygous mutation in exon 3 follow autosomal dominant inheritance


HPO:

31
neurodegeneration with brain iron accumulation 4:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Neurodegeneration with Brain Iron Accumulation 4

OMIM : 56 Neurodegeneration with brain iron accumulation-4 (NBIA4) is a neurodegenerative disorder characterized by progressive spastic paraplegia, parkinsonism unresponsive to L-DOPA treatment, and psychiatric or behavioral symptoms. Other neurologic features, including optic atrophy, eye movement abnormalities, dystonia, dysphagia, dysarthria, and motor axonal neuropathy, may occur. Brain MRI shows T2-weighted hypointensities in the globus pallidus and substantia nigra. Onset is usually in the first 2 decades, but later onset has been reported (summary by Dogu et al., 2013). There is phenotypic variation: some patients may not have extrapyramidal signs and may have muscle weakness and atrophy as well as cognitive impairment or developmental delay (Deschauer et al., 2012). Both autosomal recessive and autosomal dominant inheritance have been reported (see INHERITANCE and MOLECULAR GENETICS). For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200). (614298)

MalaCards based summary : Neurodegeneration with Brain Iron Accumulation 4, also known as nbia4, is related to spastic paraplegia 43, autosomal recessive and movement disease, and has symptoms including ataxia, tremor and abnormality of extrapyramidal motor function. An important gene associated with Neurodegeneration with Brain Iron Accumulation 4 is C19orf12 (Chromosome 19 Open Reading Frame 12), and among its related pathways/superpathways is Pantothenate and CoA biosynthesis. Affiliated tissues include brain, eye and globus pallidus, and related phenotypes are global developmental delay and cerebellar atrophy

Disease Ontology : 12 A neurodegeneration with brain iron accumulation that has material basis in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12.

UniProtKB/Swiss-Prot : 73 Neurodegeneration with brain iron accumulation 4: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA4 results in speech difficulty, extrapyramidal signs, oromandibular and generalized dystonia, and parkinsonism. Most patients have progressive involvement of the corticospinal tract, with spasticity, hyperreflexia, and extensor plantar responses.

Related Diseases for Neurodegeneration with Brain Iron Accumulation 4

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 43, autosomal recessive 29.7 PLA2G6 FA2H ERLIN2 C19orf12
2 movement disease 29.4 PLA2G6 PANK2 FTL ATP13A2
3 paraplegia 29.4 FA2H ERLIN2 C19orf12 ATP13A2
4 hereditary spastic paraplegia 28.9 PLA2G6 FA2H ERLIN2 C19orf12 ATP13A2
5 dystonia 27.7 WDR45 PLA2G6 PANK2 FTL FA2H DCAF17
6 neurodegeneration with brain iron accumulation 1 27.6 WDR45 PLA2G6 PANK2 PANK1 FTL FA2H
7 neurodegeneration with brain iron accumulation 27.5 WDR45 PLA2G6 PANK2 PANK1 FTL FA2H
8 mitochondrial membrane protein-associated neurodegeneration 12.3
9 alcohol-related neurodevelopmental disorder 10.3 WDR45 C19orf12
10 axonal neuropathy 10.2
11 neuropathy 10.2
12 autosomal recessive disease 10.2
13 oromandibular dystonia 10.1 PLA2G6 PANK2 C19orf12
14 retinitis pigmentosa 10.1
15 ataxia and polyneuropathy, adult-onset 10.1
16 spastic ataxia 10.1
17 aphasia 10.1
18 neuroretinitis 10.1
19 retinitis 10.1
20 hereditary dystonia 10.1
21 spasticity 10.1
22 posttransplant acute limbic encephalitis 10.1
23 cerebral degeneration 10.1 PLA2G6 PANK2 FA2H
24 neuropathy, hereditary sensory, type iic 10.0 FA2H ERLIN2
25 hereditary spastic paraplegia 30 10.0 FA2H ERLIN2
26 amyotrophic lateral sclerosis 1 10.0
27 lateral sclerosis 10.0
28 motor neuron disease 10.0
29 juvenile amyotrophic lateral sclerosis 10.0
30 dysphagia 10.0
31 hypotonia 10.0
32 choreatic disease 10.0 PANK2 FTL
33 spastic paraplegia 18, autosomal recessive 10.0 FA2H ERLIN2
34 spastic paraplegia 28, autosomal recessive 10.0 FA2H ERLIN2
35 basal ganglia disease 10.0 PANK2 FTL
36 spastic paraplegia 48, autosomal recessive 10.0 FA2H ERLIN2
37 3-methylglutaconic aciduria, type iii 10.0
38 hydrocephalus 10.0
39 pseudobulbar affect 10.0
40 myoclonus 10.0
41 spastic paraplegia 2, x-linked 10.0 FA2H ERLIN2
42 spastic paraplegia 4, autosomal dominant 9.9 FA2H ERLIN2
43 iron metabolism disease 9.9 PANK2 FTL
44 choreoacanthocytosis 9.7 PANK2 PANK1 FTL C19orf12
45 early-onset parkinson's disease 9.7 PLA2G6 PANK2 C19orf12 ATP13A2
46 parkinson disease 15, autosomal recessive early-onset 9.5 PLA2G6 PANK2 FA2H C19orf12 ATP13A2
47 hemochromatosis, type 1 9.4 PANK2 PANK1 FTL
48 neurodegeneration with brain iron accumulation 6 9.0 WDR45 PLA2G6 PANK2 PANK1 FA2H DCAF17
49 spastic paraplegia 35, autosomal recessive 8.9 WDR45 PLA2G6 PANK2 FA2H DCAF17 COASY
50 neuroaxonal dystrophy 8.2 WDR45 PLA2G6 PANK2 PANK1 FTL FA2H

Graphical network of the top 20 diseases related to Neurodegeneration with Brain Iron Accumulation 4:



Diseases related to Neurodegeneration with Brain Iron Accumulation 4

Symptoms & Phenotypes for Neurodegeneration with Brain Iron Accumulation 4

Human phenotypes related to Neurodegeneration with Brain Iron Accumulation 4:

31 58 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 31 occasional (7.5%) HP:0001263
2 cerebellar atrophy 31 occasional (7.5%) HP:0001272
3 optic atrophy 58 31 Frequent (79-30%) HP:0000648
4 gait disturbance 58 31 Frequent (79-30%) HP:0001288
5 spasticity 58 31 Very frequent (99-80%) HP:0001257
6 dysarthria 58 31 Very frequent (99-80%) HP:0001260
7 babinski sign 58 31 Very frequent (99-80%) HP:0003487
8 parkinsonism 58 31 Frequent (79-30%) HP:0001300
9 behavioral abnormality 58 Very frequent (99-80%)
10 delayed speech and language development 31 HP:0000750
11 muscle weakness 58 Very frequent (99-80%)
12 dysphagia 58 Frequent (79-30%)
13 elevated serum creatine kinase 31 HP:0003236
14 ataxia 31 HP:0001251
15 progressive visual loss 31 HP:0000529
16 tremor 31 HP:0001337
17 hyperreflexia 31 HP:0001347
18 bowel incontinence 58 Frequent (79-30%)
19 depressivity 31 HP:0000716
20 respiratory insufficiency 58 Very rare (<4-1%)
21 scapular winging 31 HP:0003691
22 mental deterioration 58 Very frequent (99-80%)
23 dystonia 58 Frequent (79-30%)
24 pes cavus 31 HP:0001761
25 hyporeflexia 31 HP:0001265
26 distal amyotrophy 31 HP:0003693
27 rigidity 58 Very frequent (99-80%)
28 emotional lability 31 HP:0000712
29 dementia 31 HP:0000726
30 hyperactive deep tendon reflexes 58 Frequent (79-30%)
31 distal muscle weakness 31 HP:0002460
32 frequent falls 58 Frequent (79-30%)
33 impulsivity 31 HP:0100710
34 spastic paraparesis 58 Frequent (79-30%)
35 urinary incontinence 58 Frequent (79-30%)
36 motor axonal neuropathy 58 Frequent (79-30%)
37 abnormality of saccadic eye movements 58 Occasional (29-5%)
38 postural instability 58 Very frequent (99-80%)
39 hand tremor 58 Very frequent (99-80%)
40 bradykinesia 58 Frequent (79-30%)
41 shuffling gait 58 Occasional (29-5%)
42 abnormal lower motor neuron morphology 31 HP:0002366
43 lewy bodies 31 HP:0100315
44 neurodegeneration 31 HP:0002180
45 abnormal globus pallidus morphology 58 Frequent (79-30%)
46 oromandibular dystonia 31 HP:0012048
47 abnormality of the substantia nigra 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
optic atrophy
visual loss, progressive

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

Neurologic Behavioral Psychiatric Manifestations:
emotional lability
impulsivity
depression
executive dysfunction
compulsions

Head And Neck Face:
oromandibular dystonia

Neurologic Peripheral Nervous System:
axonal motor neuropathy (in about 50%)
reduced nerve amplitudes of peroneal nerve

Neurologic Central Nervous System:
spasticity
ataxia
tremor
hyperreflexia
dysarthria
more
Skeletal Feet:
pes cavus
claw toes

Muscle Soft Tissue:
distal muscle weakness
distal muscle atrophy

Skeletal Hands:
atrophy of the small muscles in the hand

Laboratory Abnormalities:
increased serum creatine kinase, mild

Clinical features from OMIM:

614298

UMLS symptoms related to Neurodegeneration with Brain Iron Accumulation 4:


ataxia, tremor, abnormality of extrapyramidal motor function, oromandibular dystonia, muscle spasticity, abnormal pyramidal signs

GenomeRNAi Phenotypes related to Neurodegeneration with Brain Iron Accumulation 4 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.92 COX7A2 PANK1 PANK2 PLA2G6

Drugs & Therapeutics for Neurodegeneration with Brain Iron Accumulation 4

Search Clinical Trials , NIH Clinical Center for Neurodegeneration with Brain Iron Accumulation 4

Genetic Tests for Neurodegeneration with Brain Iron Accumulation 4

Genetic tests related to Neurodegeneration with Brain Iron Accumulation 4:

# Genetic test Affiliating Genes
1 Neurodegeneration with Brain Iron Accumulation 4 29 C19orf12

Anatomical Context for Neurodegeneration with Brain Iron Accumulation 4

MalaCards organs/tissues related to Neurodegeneration with Brain Iron Accumulation 4:

40
Brain, Eye, Globus Pallidus

Publications for Neurodegeneration with Brain Iron Accumulation 4

Articles related to Neurodegeneration with Brain Iron Accumulation 4:

(show all 20)
# Title Authors PMID Year
1
Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN). 6 56
31087512 2019
2
A de novo C19orf12 heterozygous mutation in a patient with MPAN. 6 56
29295770 2018
3
Behr syndrome with homozygous C19ORF12 mutation. 56 6
26187298 2015
4
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. 6 56
23857908 2013
5
Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration. 6 56
23278385 2013
6
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. 6 56
23269600 2013
7
C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis. 6 56
22584950 2012
8
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy. 56 6
22508347 2012
9
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. 56 6
21981780 2011
10
A new NBIA patient from Turkey with homozygous C19ORF12 mutation. 56
30298423 2019
11
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation. 56
29395073 2018
12
Mitochondrial Membrane Protein-Associated Neurodegeneration 6
24575447 2014
13
Neurodegeneration with Brain Iron Accumulation Disorders Overview 6
23447832 2013
14
Syndromes of neurodegeneration with brain iron accumulation. 6
22704258 2012
15
Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. 6
20039086 2010
16
Hallervorden-Spatz disease in a psychiatric setting. 56
2914882 1989
17
Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing. 61
30392167 2018
18
[Neurodegeneration with brain iron accumulation]. 61
26027671 2015
19
A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy. 61
23521069 2014
20
[A new form of hereditary neurodegeneration with brain iron accumulation: clinical and molecular-genetic characteristics]. 61
24637810 2014

Variations for Neurodegeneration with Brain Iron Accumulation 4

ClinVar genetic disease variations for Neurodegeneration with Brain Iron Accumulation 4:

6 (show top 50) (show all 158) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 C19orf12 NM_001256047.1(C19orf12):c.232_233del (p.Met78fs)deletion Pathogenic 636274 19:30193812-30193813 19:29702905-29702906
2 C19orf12 NM_001256047.1(C19orf12):c.194_204del (p.Met65fs)deletion Pathogenic 636275 19:30193841-30193851 19:29702934-29702944
3 C19orf12 NM_001256047.1(C19orf12):c.161-2deldeletion Pathogenic 434550 rs1352744778 19:30193886-30193886 19:29702979-29702979
4 C19orf12 NM_001256047.1(C19orf12):c.161G>A (p.Gly54Glu)SNV Pathogenic 617481 rs752450983 19:30193884-30193884 19:29702977-29702977
5 C19orf12 NM_001256047.1(C19orf12):c.-10G>CSNV Pathogenic 617482 rs1424291552 19:30199330-30199330 19:29708423-29708423
6 C19orf12 NM_031448.6(C19orf12):c.171_181del (p.Gly58fs)deletion Pathogenic 31155 rs515726204 19:30193864-30193874 19:29702957-29702967
7 C19orf12 NM_001256047.1(C19orf12):c.362T>A (p.Leu121Gln)SNV Pathogenic 31626 rs387907173 19:30193683-30193683 19:29702776-29702776
8 C19orf12 NM_001256047.1(C19orf12):c.225_226delinsTGGAGGAACAGT (p.Gln75fs)indel Pathogenic 210552 rs797045423 19:30193819-30193820 19:29702912-29702913
9 C19orf12 NM_001256047.1(C19orf12):c.215C>T (p.Pro72Leu)SNV Pathogenic 225875 rs201987973 19:30193830-30193830 19:29702923-29702923
10 C19orf12 NM_001031726.3(C19orf12):c.197_199deldeletion Pathogenic 88866 rs398122409 19:30193879-30193881 19:29702972-29702974
11 C19orf12 NM_001256047.1(C19orf12):c.-2C>TSNV Pathogenic/Likely pathogenic 31156 rs397514477 19:30199322-30199322 19:29708415-29708415
12 C19orf12 NM_001256047.1(C19orf12):c.172G>A (p.Gly58Arg)SNV Pathogenic/Likely pathogenic 31157 rs515726205 19:30193873-30193873 19:29702966-29702966
13 C19orf12 NM_001256047.1(C19orf12):c.154G>C (p.Ala52Pro)SNV Likely pathogenic 88865 rs376103979 19:30199167-30199167 19:29708260-29708260
14 C19orf12 NM_001256047.1(C19orf12):c.161G>T (p.Gly54Val)SNV Likely pathogenic 402183 rs752450983 19:30193884-30193884 19:29702977-29702977
15 C19orf12 NM_001256047.1(C19orf12):c.205C>T (p.Gln69Ter)SNV Likely pathogenic 425168 rs1064797235 19:30193840-30193840 19:29702933-29702933
16 C19orf12 NM_001256047.1(C19orf12):c.303G>A (p.Trp101Ter)SNV Likely pathogenic 434549 rs1555714808 19:30193742-30193742 19:29702835-29702835
17 C19orf12 NM_001256047.1(C19orf12):c.371dup (p.Met124fs)duplication Likely pathogenic 634443 rs1568326754 19:30193673-30193674 19:29702766-29702767
18 C19orf12 NM_001256047.1(C19orf12):c.177G>A (p.Gly59=)SNV Conflicting interpretations of pathogenicity 506451 rs768063881 19:30193868-30193868 19:29702961-29702961
19 C19orf12 NM_001256047.1(C19orf12):c.391A>G (p.Lys131Glu)SNV Conflicting interpretations of pathogenicity 31158 rs146170087 19:30193654-30193654 19:29702747-29702747
20 C19orf12 NM_001256047.1(C19orf12):c.-11+616C>TSNV Conflicting interpretations of pathogenicity 387761 rs948285503 19:30205854-30205854 19:29714947-29714947
21 C19orf12 NM_031448.6(C19orf12):c.*554G>ASNV Uncertain significance 888944 19:30193065-30193065 19:29702158-29702158
22 C19orf12 NM_031448.6(C19orf12):c.*281C>TSNV Uncertain significance 890640 19:30193338-30193338 19:29702431-29702431
23 C19orf12 NM_031448.6(C19orf12):c.*5C>TSNV Uncertain significance 890641 19:30193614-30193614 19:29702707-29702707
24 C19orf12 NM_031448.6(C19orf12):c.371T>C (p.Met124Thr)SNV Uncertain significance 891191 19:30193674-30193674 19:29702767-29702767
25 C19orf12 NM_031448.6(C19orf12):c.113T>C (p.Met38Thr)SNV Uncertain significance 891192 19:30199208-30199208 19:29708301-29708301
26 C19orf12 NM_031448.6(C19orf12):c.-1G>ASNV Uncertain significance 892392 19:30199321-30199321 19:29708414-29708414
27 C19orf12 NM_031448.6(C19orf12):c.*1362G>TSNV Uncertain significance 890577 19:30192257-30192257 19:29701350-29701350
28 C19orf12 NM_001256047.1(C19orf12):c.313G>A (p.Val105Met)SNV Uncertain significance 286392 rs146492790 19:30193732-30193732 19:29702825-29702825
29 C19orf12 NM_001256047.1(C19orf12):c.*3520C>TSNV Uncertain significance 328656 rs886054311 19:30190099-30190099 19:29699192-29699192
30 C19orf12 NM_001256047.1(C19orf12):c.*3337G>ASNV Uncertain significance 328664 rs868247639 19:30190282-30190282 19:29699375-29699375
31 C19orf12 NM_001256047.1(C19orf12):c.*3294C>GSNV Uncertain significance 328667 rs886054313 19:30190325-30190325 19:29699418-29699418
32 C19orf12 NM_001256047.1(C19orf12):c.*2956G>TSNV Uncertain significance 328675 rs113943151 19:30190663-30190663 19:29699756-29699756
33 C19orf12 NM_001256047.1(C19orf12):c.*1488T>GSNV Uncertain significance 328698 rs777128142 19:30192131-30192131 19:29701224-29701224
34 C19orf12 NM_001256047.1(C19orf12):c.*1178C>ASNV Uncertain significance 328702 rs886054317 19:30192441-30192441 19:29701534-29701534
35 C19orf12 NM_001256047.1(C19orf12):c.46T>C (p.Ser16Pro)SNV Uncertain significance 617504 rs1568332606 19:30199275-30199275 19:29708368-29708368
36 C19orf12 NM_031448.6(C19orf12):c.*2732G>ASNV Uncertain significance 888791 19:30190887-30190887 19:29699980-29699980
37 C19orf12 NM_031448.6(C19orf12):c.241C>A (p.Pro81Thr)SNV Uncertain significance 873517 19:30193804-30193804 19:29702897-29702897
38 C19orf12 NM_031448.6(C19orf12):c.*3697C>TSNV Uncertain significance 888719 19:30189922-30189922 19:29699015-29699015
39 C19orf12 NM_031448.6(C19orf12):c.*3518C>TSNV Uncertain significance 888720 19:30190101-30190101 19:29699194-29699194
40 C19orf12 NM_031448.6(C19orf12):c.*3400T>ASNV Uncertain significance 890421 19:30190219-30190219 19:29699312-29699312
41 C19orf12 NM_031448.6(C19orf12):c.*3357G>ASNV Uncertain significance 890422 19:30190262-30190262 19:29699355-29699355
42 C19orf12 NM_031448.6(C19orf12):c.*3352C>TSNV Uncertain significance 890423 19:30190267-30190267 19:29699360-29699360
43 C19orf12 NM_031448.6(C19orf12):c.*3314C>TSNV Uncertain significance 890993 19:30190305-30190305 19:29699398-29699398
44 C19orf12 NM_031448.6(C19orf12):c.*3300C>TSNV Uncertain significance 890994 19:30190319-30190319 19:29699412-29699412
45 C19orf12 NM_031448.6(C19orf12):c.*3272C>TSNV Uncertain significance 890995 19:30190347-30190347 19:29699440-29699440
46 C19orf12 NM_031448.6(C19orf12):c.*3091A>TSNV Uncertain significance 892218 19:30190528-30190528 19:29699621-29699621
47 C19orf12 NM_031448.6(C19orf12):c.*2671A>CSNV Uncertain significance 888793 19:30190948-30190948 19:29700041-29700041
48 C19orf12 NM_031448.6(C19orf12):c.*2384C>TSNV Uncertain significance 890499 19:30191235-30191235 19:29700328-29700328
49 C19orf12 NM_031448.6(C19orf12):c.*2328G>ASNV Uncertain significance 890500 19:30191291-30191291 19:29700384-29700384
50 C19orf12 NM_031448.6(C19orf12):c.*2208G>ASNV Uncertain significance 890501 19:30191411-30191411 19:29700504-29700504

UniProtKB/Swiss-Prot genetic disease variations for Neurodegeneration with Brain Iron Accumulation 4:

73 (show all 14)
# Symbol AA change Variation ID SNP ID
1 C19orf12 p.Thr11Met VAR_066617 rs397514477
2 C19orf12 p.Gly53Arg VAR_066618 rs200133991
3 C19orf12 p.Gly65Glu VAR_066619 rs752450983
4 C19orf12 p.Gly69Arg VAR_066620 rs515726205
5 C19orf12 p.Ser39Phe VAR_069756 rs120486509
6 C19orf12 p.Ala48Pro VAR_069757
7 C19orf12 p.Pro60Leu VAR_069758 rs142499939
8 C19orf12 p.Gly65Val VAR_069759 rs752450983
9 C19orf12 p.Pro83Leu VAR_069760 rs201987973
10 C19orf12 p.Arg98Ser VAR_069761 rs138493099
11 C19orf12 p.Leu121Gln VAR_069762
12 C19orf12 p.Ala63Pro VAR_070668 rs376103979
13 C19orf12 p.Gly58Ser VAR_076803 rs135850347
14 C19orf12 p.Gln96Pro VAR_076804

Expression for Neurodegeneration with Brain Iron Accumulation 4

Search GEO for disease gene expression data for Neurodegeneration with Brain Iron Accumulation 4.

Pathways for Neurodegeneration with Brain Iron Accumulation 4

Pathways related to Neurodegeneration with Brain Iron Accumulation 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.08 PANK2 PANK1 COASY

GO Terms for Neurodegeneration with Brain Iron Accumulation 4

Biological processes related to Neurodegeneration with Brain Iron Accumulation 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 autophagy GO:0006914 9.33 WDR45 C19orf12 ATP13A2
2 coenzyme A biosynthetic process GO:0015937 9.13 PANK2 PANK1 COASY
3 coenzyme biosynthetic process GO:0009108 8.8 PANK2 PANK1 COASY

Molecular functions related to Neurodegeneration with Brain Iron Accumulation 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-3,5-bisphosphate binding GO:0080025 8.96 WDR45 ATP13A2
2 pantothenate kinase activity GO:0004594 8.62 PANK2 PANK1

Sources for Neurodegeneration with Brain Iron Accumulation 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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