NBIA4
MCID: NRD014
MIFTS: 41

Neurodegeneration with Brain Iron Accumulation 4 (NBIA4)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle 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 57 12 72 29 13 6 15 70
Nbia4 57 12 58 72
Mpan 57 12 58 72
Neurodegeneration with Brain Iron Accumulation Due to C19orf12 Mutation 12 58
Neurodegeneration with Brain Iron Accumulation Type 4 12 58
Mitochondrial Protein-Associated Neurodegeneration 57 12
Nbia Due to C19orf12 Mutation 12 58
Mitochondrial Membrane Protein-Associated Neurodegeneration 58
Mitochondrial Membrane Protein Associated Neurodegeneration 72
Mitochondrial Protein-Associated Neurodegeneration; Mpan 57
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®:

57 (Updated 20-May-2021)
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® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Neurodegeneration with Brain Iron Accumulation 4, also known as nbia4, is related to spastic paraplegia 43, autosomal recessive and neurodegeneration with brain iron accumulation, 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). 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 : 72 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 52)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 43, autosomal recessive 30.2 PLA2G6 FA2H C19orf12
2 neurodegeneration with brain iron accumulation 28.7 WDR45 PLA2G6 PANK2 FTL FA2H DCAF17
3 neurodegeneration with brain iron accumulation 1 28.5 WDR45 PLA2G6 PANK2 FTL FA2H DCAF17
4 movement disease 28.4 WDR45 PLA2G6 PANK2 FTL FA2H C19orf12
5 dystonia 28.3 WDR45 PLA2G6 PANK2 FTL FA2H DCAF17
6 mitochondrial membrane protein-associated neurodegeneration 11.8
7 autosomal recessive disease 10.2
8 alcohol-related neurodevelopmental disorder 10.1 WDR45 C19orf12
9 amyotrophic lateral sclerosis 1 10.1
10 lateral sclerosis 10.1
11 motor neuron disease 10.1
12 juvenile amyotrophic lateral sclerosis 10.1
13 dysphagia 10.1
14 hypotonia 10.1
15 tethered spinal cord syndrome 10.0 SNORA49 EP400P1
16 3-methylglutaconic aciduria, type iii 10.0
17 parkinsonism 10.0
18 hydrocephalus 10.0
19 pseudobulbar affect 10.0
20 myoclonus 10.0
21 congenital disorder of glycosylation, type ip 9.9 PANK2 C19orf12
22 axonal neuropathy 9.9
23 neuropathy 9.9
24 porencephaly 9.9 SNORA49 EP400P1
25 retinitis pigmentosa 9.9
26 ataxia and polyneuropathy, adult-onset 9.9
27 spastic ataxia 9.9
28 aphasia 9.9
29 neuroretinitis 9.9
30 hereditary spastic paraplegia 9.9
31 retinitis 9.9
32 paraplegia 9.9
33 hereditary dystonia 9.9
34 spasticity 9.9
35 posttransplant acute limbic encephalitis 9.9
36 basal ganglia calcification 9.7 WDR45 PANK2
37 oromandibular dystonia 9.7 PLA2G6 PANK2 FA2H C19orf12
38 parkinson disease 15, autosomal recessive early-onset 9.6 PLA2G6 PANK2 FA2H C19orf12
39 early-onset parkinson's disease 9.6 PLA2G6 PANK2 FA2H C19orf12
40 iron metabolism disease 9.6 PANK2 FTL
41 choreoacanthocytosis 9.6 PANK2 FTL C19orf12
42 choreatic disease 9.5 PANK2 FTL C19orf12
43 neurodegeneration with brain iron accumulation 5 9.4 WDR45 PLA2G6 PANK2 FA2H DCAF17 C19orf12
44 neurodegeneration with brain iron accumulation 6 9.4 WDR45 PLA2G6 PANK2 FA2H DCAF17 C19orf12
45 spastic paraplegia 35, autosomal recessive 9.4 WDR45 PLA2G6 PANK2 FA2H DCAF17 C19orf12
46 kufor-rakeb syndrome 9.4 WDR45 PLA2G6 PANK2 FA2H DCAF17 C19orf12
47 neurodegeneration with brain iron accumulation 2b 9.1 PLA2G6 PANK2 FTL FA2H DCAF17 C19orf12
48 neuroaxonal dystrophy 9.1 WDR45 PLA2G6 PANK2 FTL FA2H C19orf12
49 neurodegeneration with brain iron accumulation 3 9.0 WDR45 PLA2G6 PANK2 FTL FA2H DCAF17
50 neurodegeneration with brain iron accumulation 2a 9.0 WDR45 PLA2G6 PANK2 FTL FA2H DCAF17

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 spasticity 58 31 Very frequent (99-80%) HP:0001257
4 dysarthria 58 31 Very frequent (99-80%) HP:0001260
5 gait disturbance 58 31 Frequent (79-30%) HP:0001288
6 optic atrophy 58 31 Frequent (79-30%) HP:0000648
7 babinski sign 58 31 Very frequent (99-80%) HP:0003487
8 parkinsonism 58 31 Frequent (79-30%) HP:0001300
9 hyperreflexia 31 HP:0001347
10 emotional lability 31 HP:0000712
11 depressivity 31 HP:0000716
12 ataxia 31 HP:0001251
13 tremor 31 HP:0001337
14 dysphagia 58 Frequent (79-30%)
15 muscle weakness 58 Very frequent (99-80%)
16 respiratory insufficiency 58 Very rare (<4-1%)
17 bowel incontinence 58 Frequent (79-30%)
18 behavioral abnormality 58 Very frequent (99-80%)
19 delayed speech and language development 31 HP:0000750
20 progressive visual loss 31 HP:0000529
21 elevated serum creatine kinase 31 HP:0003236
22 scapular winging 31 HP:0003691
23 mental deterioration 58 Very frequent (99-80%)
24 dystonia 58 Frequent (79-30%)
25 pes cavus 31 HP:0001761
26 hyporeflexia 31 HP:0001265
27 rigidity 58 Very frequent (99-80%)
28 spastic paraparesis 58 Frequent (79-30%)
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 urinary incontinence 58 Frequent (79-30%)
35 motor axonal neuropathy 58 Frequent (79-30%)
36 distal amyotrophy 31 HP:0003693
37 postural instability 58 Very frequent (99-80%)
38 hand tremor 58 Very frequent (99-80%)
39 bradykinesia 58 Frequent (79-30%)
40 shuffling gait 58 Occasional (29-5%)
41 abnormal saccadic eye movements 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®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
ataxia
dysarthria
tremor
more
Head And Neck Eyes:
optic atrophy
visual loss, progressive

Skeletal Feet:
pes cavus
claw toes

Head And Neck Face:
oromandibular dystonia

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

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

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

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 (Updated 20-May-2021)

UMLS symptoms related to Neurodegeneration with Brain Iron Accumulation 4:


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

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, Spinal Cord

Publications for Neurodegeneration with Brain Iron Accumulation 4

Articles related to Neurodegeneration with Brain Iron Accumulation 4:

(show all 24)
# Title Authors PMID Year
1
Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN). 6 57
31087512 2019
2
A de novo C19orf12 heterozygous mutation in a patient with MPAN. 6 57
29295770 2018
3
Behr syndrome with homozygous C19ORF12 mutation. 6 57
26187298 2015
4
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. 57 6
23857908 2013
5
Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration. 57 6
23278385 2013
6
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. 57 6
23269600 2013
7
C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis. 57 6
22584950 2012
8
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy. 57 6
22508347 2012
9
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. 6 57
21981780 2011
10
A new NBIA patient from Turkey with homozygous C19ORF12 mutation. 57
30298423 2019
11
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation. 57
29395073 2018
12
The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN. 6
28347615 2017
13
Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation. 6
25592411 2015
14
Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation. 6
23494994 2013
15
PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation. 6
23166001 2013
16
Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation. 6
23436634 2013
17
Mitochondrial membrane protein-associated neurodegeneration (MPAN). 6
24209434 2013
18
Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. 6
20039086 2010
19
Hallervorden-Spatz disease in a psychiatric setting. 57
2914882 1989
20
SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review. 61
33394258 2021
21
Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing. 61
30392167 2018
22
[Neurodegeneration with brain iron accumulation]. 61
26027671 2015
23
A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy. 61
23521069 2014
24
[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 160)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C19orf12 NM_031448.5(C19orf12):c.362T>A (p.Leu121Gln) SNV Pathogenic 31626 rs387907173 GRCh37: 19:30193683-30193683
GRCh38: 19:29702776-29702776
2 C19orf12 NM_001031726.3(C19orf12):c.197_199del Deletion Pathogenic 88866 rs398122409 GRCh37: 19:30193879-30193881
GRCh38: 19:29702972-29702974
3 C19orf12 NM_001031726.3(C19orf12):c.258_259delinsTGGAGGAACAGT (p.Gln86fs) Indel Pathogenic 210552 rs797045423 GRCh37: 19:30193819-30193820
GRCh38: 19:29702912-29702913
4 C19orf12 NM_031448.5(C19orf12):c.215C>T (p.Pro72Leu) SNV Pathogenic 225875 rs201987973 GRCh37: 19:30193830-30193830
GRCh38: 19:29702923-29702923
5 C19orf12 NM_031448.6(C19orf12):c.171_181del (p.Gly58fs) Deletion Pathogenic 31155 rs515726204 GRCh37: 19:30193864-30193874
GRCh38: 19:29702957-29702967
6 C19orf12 NM_001031726.3(C19orf12):c.194-2del Deletion Pathogenic 434550 rs1352744778 GRCh37: 19:30193886-30193886
GRCh38: 19:29702979-29702979
7 C19orf12 NM_001031726.3(C19orf12):c.194G>A (p.Gly65Glu) SNV Pathogenic 617481 rs752450983 GRCh37: 19:30193884-30193884
GRCh38: 19:29702977-29702977
8 C19orf12 NM_001031726.3(C19orf12):c.24G>C (p.Lys8Asn) SNV Pathogenic 617482 rs1424291552 GRCh37: 19:30199330-30199330
GRCh38: 19:29708423-29708423
9 C19orf12 NM_031448.5(C19orf12):c.232_233del (p.Met78fs) Deletion Pathogenic 636274 rs1599534276 GRCh37: 19:30193812-30193813
GRCh38: 19:29702905-29702906
10 C19orf12 NM_031448.5(C19orf12):c.194_204del (p.Met65fs) Deletion Pathogenic 636275 rs1599534394 GRCh37: 19:30193841-30193851
GRCh38: 19:29702934-29702944
11 C19orf12 NM_001031726.3(C19orf12):c.238C>T (p.Gln80Ter) SNV Pathogenic/Likely pathogenic 425168 rs1064797235 GRCh37: 19:30193840-30193840
GRCh38: 19:29702933-29702933
12 C19orf12 NM_031448.5(C19orf12):c.371dup (p.Met124fs) Duplication Pathogenic/Likely pathogenic 634443 rs1568326754 GRCh37: 19:30193673-30193674
GRCh38: 19:29702766-29702767
13 C19orf12 NM_001031726.3(C19orf12):c.32C>T (p.Thr11Met) SNV Pathogenic/Likely pathogenic 31156 rs397514477 GRCh37: 19:30199322-30199322
GRCh38: 19:29708415-29708415
14 C19orf12 NM_001031726.3(C19orf12):c.205G>A (p.Gly69Arg) SNV Likely pathogenic 31157 rs515726205 GRCh37: 19:30193873-30193873
GRCh38: 19:29702966-29702966
15 C19orf12 NM_001031726.3(C19orf12):c.187G>C (p.Ala63Pro) SNV Likely pathogenic 88865 rs376103979 GRCh37: 19:30199167-30199167
GRCh38: 19:29708260-29708260
16 C19orf12 NM_001031726.3(C19orf12):c.336G>A (p.Trp112Ter) SNV Likely pathogenic 434549 rs1555714808 GRCh37: 19:30193742-30193742
GRCh38: 19:29702835-29702835
17 C19orf12 NM_031448.6(C19orf12):c.240_241dup (p.Pro81fs) Duplication Likely pathogenic 982027 GRCh37: 19:30193803-30193804
GRCh38: 19:29702896-29702897
18 C19orf12 NM_031448.5(C19orf12):c.161G>T (p.Gly54Val) SNV Likely pathogenic 402183 rs752450983 GRCh37: 19:30193884-30193884
GRCh38: 19:29702977-29702977
19 C19orf12 NM_001031726.3(C19orf12):c.424A>G (p.Lys142Glu) SNV Conflicting interpretations of pathogenicity 31158 rs146170087 GRCh37: 19:30193654-30193654
GRCh38: 19:29702747-29702747
20 C19orf12 NM_001031726.3(C19orf12):c.*3288T>G SNV Uncertain significance 328668 rs778264130 GRCh37: 19:30190331-30190331
GRCh38: 19:29699424-29699424
21 C19orf12 NM_001031726.3(C19orf12):c.*1595G>A SNV Uncertain significance 328694 rs537395968 GRCh37: 19:30192024-30192024
GRCh38: 19:29701117-29701117
22 C19orf12 NM_001031726.3(C19orf12):c.*3672C>T SNV Uncertain significance 328654 rs886054310 GRCh37: 19:30189947-30189947
GRCh38: 19:29699040-29699040
23 C19orf12 NM_001031726.3(C19orf12):c.24-12T>A SNV Uncertain significance 328732 rs886054323 GRCh37: 19:30199342-30199342
GRCh38: 19:29708435-29708435
24 C19orf12 NM_001031726.3(C19orf12):c.*3217T>C SNV Uncertain significance 328671 rs769521665 GRCh37: 19:30190402-30190402
GRCh38: 19:29699495-29699495
25 C19orf12 NM_001031726.3(C19orf12):c.*718G>T SNV Uncertain significance 328717 rs770252476 GRCh37: 19:30192901-30192901
GRCh38: 19:29701994-29701994
26 C19orf12 NM_001031726.3(C19orf12):c.*2449G>A SNV Uncertain significance 328683 rs746421147 GRCh37: 19:30191170-30191170
GRCh38: 19:29700263-29700263
27 C19orf12 NM_001031726.3(C19orf12):c.*3417C>T SNV Uncertain significance 328660 rs138368723 GRCh37: 19:30190202-30190202
GRCh38: 19:29699295-29699295
28 C19orf12 NM_001031726.3(C19orf12):c.*471G>A SNV Uncertain significance 328720 rs112388598 GRCh37: 19:30193148-30193148
GRCh38: 19:29702241-29702241
29 C19orf12 NM_001031726.3(C19orf12):c.-76T>C SNV Uncertain significance 328738 rs886054326 GRCh37: 19:30205912-30205912
GRCh38: 19:29715005-29715005
30 C19orf12 NM_001031726.3(C19orf12):c.*3242C>T SNV Uncertain significance 328669 rs886054314 GRCh37: 19:30190377-30190377
GRCh38: 19:29699470-29699470
31 C19orf12 NM_001031726.3(C19orf12):c.*2270T>G SNV Uncertain significance 328686 rs748603317 GRCh37: 19:30191349-30191349
GRCh38: 19:29700442-29700442
32 C19orf12 NM_001031726.3(C19orf12):c.*20G>A SNV Uncertain significance 328729 rs770407188 GRCh37: 19:30193599-30193599
GRCh38: 19:29702692-29702692
33 C19orf12 NM_001031726.3(C19orf12):c.*136C>T SNV Uncertain significance 328726 rs886054321 GRCh37: 19:30193483-30193483
GRCh38: 19:29702576-29702576
34 C19orf12 NM_001031726.3(C19orf12):c.*1037A>G SNV Uncertain significance 328709 rs886054318 GRCh37: 19:30192582-30192582
GRCh38: 19:29701675-29701675
35 C19orf12 NM_001031726.3(C19orf12):c.*1488T>G SNV Uncertain significance 328698 rs777128142 GRCh37: 19:30192131-30192131
GRCh38: 19:29701224-29701224
36 C19orf12 NM_001031726.3(C19orf12):c.*814G>A SNV Uncertain significance 328715 rs112965744 GRCh37: 19:30192805-30192805
GRCh38: 19:29701898-29701898
37 C19orf12 NM_001031726.3(C19orf12):c.*1592A>G SNV Uncertain significance 328695 rs113641934 GRCh37: 19:30192027-30192027
GRCh38: 19:29701120-29701120
38 C19orf12 NM_001031726.3(C19orf12):c.*2956G>T SNV Uncertain significance 328675 rs113943151 GRCh37: 19:30190663-30190663
GRCh38: 19:29699756-29699756
39 C19orf12 NM_001031726.3(C19orf12):c.101C>T (p.Ala34Val) SNV Uncertain significance 328731 rs544395324 GRCh37: 19:30199253-30199253
GRCh38: 19:29708346-29708346
40 C19orf12 NM_001031726.3(C19orf12):c.*541G>A SNV Uncertain significance 328718 rs112752558 GRCh37: 19:30193078-30193078
GRCh38: 19:29702171-29702171
41 C19orf12 NM_001031726.3(C19orf12):c.-65C>T SNV Uncertain significance 328736 rs886054325 GRCh37: 19:30205901-30205901
GRCh38: 19:29714994-29714994
42 C19orf12 NM_001031726.3(C19orf12):c.*3337G>A SNV Uncertain significance 328664 rs868247639 GRCh37: 19:30190282-30190282
GRCh38: 19:29699375-29699375
43 C19orf12 NM_031448.5(C19orf12):c.*3402dup Duplication Uncertain significance 328661 rs139713991 GRCh37: 19:30190216-30190217
GRCh38: 19:29699309-29699310
44 C19orf12 NM_001031726.3(C19orf12):c.*308C>T SNV Uncertain significance 328724 rs886054320 GRCh37: 19:30193311-30193311
GRCh38: 19:29702404-29702404
45 C19orf12 NM_001031726.3(C19orf12):c.*3492G>T SNV Uncertain significance 328658 rs886054312 GRCh37: 19:30190127-30190127
GRCh38: 19:29699220-29699220
46 C19orf12 NM_001031726.3(C19orf12):c.*1159C>T SNV Uncertain significance 328704 rs150649006 GRCh37: 19:30192460-30192460
GRCh38: 19:29701553-29701553
47 C19orf12 NM_001031726.3(C19orf12):c.*466G>A SNV Uncertain significance 328721 rs886054319 GRCh37: 19:30193153-30193153
GRCh38: 19:29702246-29702246
48 C19orf12 NM_001031726.3(C19orf12):c.*2373G>T SNV Uncertain significance 328684 rs76746960 GRCh37: 19:30191246-30191246
GRCh38: 19:29700339-29700339
49 C19orf12 NM_001031726.3(C19orf12):c.*2621C>T SNV Uncertain significance 328681 rs183432713 GRCh37: 19:30190998-30190998
GRCh38: 19:29700091-29700091
50 C19orf12 NM_001031726.3(C19orf12):c.*3294C>G SNV Uncertain significance 328667 rs886054313 GRCh37: 19:30190325-30190325
GRCh38: 19:29699418-29699418

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

72 (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

GO Terms for Neurodegeneration with Brain Iron Accumulation 4

Sources for Neurodegeneration with Brain Iron Accumulation 4

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
Content
Loading form....