Neurodegeneration with Brain Iron Accumulation 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

NBIA4 MCID: NRD014 MIFTS: 39	Neurodegeneration with Brain Iron Accumulation 4 (NBIA4) Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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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 ⁵⁸ ¹² ⁷⁶ ³⁰ ¹³ ⁶ ¹⁵ ⁷⁴

Nbia4 ⁵⁸ ¹² ⁶⁰ ⁷⁶

Mpan ⁵⁸ ¹² ⁶⁰ ⁷⁶

Neurodegeneration with Brain Iron Accumulation Due to C19orf12 Mutation ¹² ⁶⁰

Neurodegeneration with Brain Iron Accumulation Type 4 ¹² ⁶⁰

Mitochondrial Protein-Associated Neurodegeneration ⁵⁸ ¹²

Nbia Due to C19orf12 Mutation ¹² ⁶⁰

Mitochondrial Membrane Protein-Associated Neurodegeneration ⁶⁰

Mitochondrial Membrane Protein Associated Neurodegeneration ⁷⁶

Mitochondrial Protein-Associated Neurodegeneration; Mpan ⁵⁸

Neurodegeneration, with Brain Iron Accumulation, Type 4 ⁴¹

Characteristics:

Orphanet epidemiological data:

⁶⁰

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:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
progressive disorder
later onset has been reported
onset usually in first decade
some patients may become wheelchair-bound

HPO:

³³

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴ ³⁵

Diseases of the nervous system

Extrapyramidal and movement disorders

Other degenerative diseases of basal ganglia

Hallervorden-Spatz disease

Orphanet: ⁶⁰

Rare neurological diseases

Rare eye diseases

External Ids:

Disease Ontology ¹² DOID:0110738

OMIM ⁵⁸ 614298

MeSH ⁴⁵ D001480 D019150 D019189

ICD10 ³⁴ G23.0

ICD10 via Orphanet ³⁵ G23.0

Orphanet ⁶⁰ ORPHA289560

MedGen ⁴³ C3280371

SNOMED-CT via HPO ⁷⁰ 162294008 17211005 18963009 more

UMLS ⁷⁴ C3280371

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Summaries for Neurodegeneration with Brain Iron Accumulation 4

OMIM : ⁵⁸ Neurodegeneration with brain iron accumulation-4 (NBIA4) is an autosomal recessive 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) 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 neurodegeneration with brain iron accumulation and mitochondrial membrane protein-associated neurodegeneration, 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 : ⁷⁶ 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.

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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 all 21)

#	Related Disease	Score	Top Affiliating Genes
1	neurodegeneration with brain iron accumulation	29.0	C19orf12 PANK2 PLA2G6 WDR45
2	mitochondrial membrane protein-associated neurodegeneration	11.9
3	axonal neuropathy	10.1
4	neuropathy	10.1
5	amyotrophic lateral sclerosis 1	10.0
6	intermittent claudication	10.0
7	lateral sclerosis	10.0
8	juvenile amyotrophic lateral sclerosis	10.0
9	tremor	9.9	C19orf12 DNAJC13
10	neurodegeneration with brain iron accumulation 2b	9.7	PANK2 PLA2G6
11	neurodegeneration with brain iron accumulation 2a	9.7	PANK2 PLA2G6
12	kufor-rakeb syndrome	9.7	PANK2 PLA2G6
13	neuroaxonal dystrophy	9.7	PANK2 PLA2G6
14	aceruloplasminemia	9.6	PANK2 PLA2G6
15	hereditary spastic paraplegia	9.5	C19orf12 PLA2G6
16	parkinson disease 15, autosomal recessive early-onset	9.5	C19orf12 PANK2 PLA2G6
17	neurodegeneration with brain iron accumulation 3	9.5	C19orf12 PANK2 PLA2G6
18	neurodegeneration with brain iron accumulation 1	9.5	C19orf12 PANK2 PLA2G6
19	neurodegeneration with brain iron accumulation 6	9.5	C19orf12 PANK2 PLA2G6
20	neurodegeneration with brain iron accumulation 5	9.2	C19orf12 PANK2 PLA2G6 WDR45
21	dystonia	9.2	C19orf12 PANK2 PLA2G6 WDR45

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

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Symptoms & Phenotypes for Neurodegeneration with Brain Iron Accumulation 4

Human phenotypes related to Neurodegeneration with Brain Iron Accumulation 4:

³³ ⁶⁰ (show all 47)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	global developmental delay ³³	occasional (7.5%)		HP:0001263
2	cerebellar atrophy ³³	occasional (7.5%)		HP:0001272
3	spasticity ⁶⁰ ³³		Very frequent (99-80%)	HP:0001257
4	dysarthria ⁶⁰ ³³		Very frequent (99-80%)	HP:0001260
5	gait disturbance ⁶⁰ ³³		Frequent (79-30%)	HP:0001288
6	optic atrophy ⁶⁰ ³³		Frequent (79-30%)	HP:0000648
7	babinski sign ⁶⁰ ³³		Very frequent (99-80%)	HP:0003487
8	parkinsonism ⁶⁰ ³³		Frequent (79-30%)	HP:0001300
9	emotional lability ³³			HP:0000712
10	depressivity ³³			HP:0000716
11	ataxia ³³			HP:0001251
12	muscle weakness ⁶⁰		Very frequent (99-80%)
13	tremor ³³			HP:0001337
14	hyperreflexia ³³			HP:0001347
15	dysphagia ⁶⁰		Frequent (79-30%)
16	respiratory insufficiency ⁶⁰		Very rare (<4-1%)
17	bowel incontinence ⁶⁰		Frequent (79-30%)
18	behavioral abnormality ⁶⁰		Very frequent (99-80%)
19	delayed speech and language development ³³			HP:0000750
20	progressive visual loss ³³			HP:0000529
21	abnormality of saccadic eye movements ⁶⁰		Occasional (29-5%)
22	pes cavus ³³			HP:0001761
23	dystonia ⁶⁰		Frequent (79-30%)
24	scapular winging ³³			HP:0003691
25	rigidity ⁶⁰		Very frequent (99-80%)
26	neurodegeneration ³³			HP:0002180
27	dementia ³³			HP:0000726
28	mental deterioration ⁶⁰		Very frequent (99-80%)
29	hyporeflexia ³³			HP:0001265
30	oromandibular dystonia ³³			HP:0012048
31	bradykinesia ⁶⁰		Frequent (79-30%)
32	shuffling gait ⁶⁰		Occasional (29-5%)
33	urinary incontinence ⁶⁰		Frequent (79-30%)
34	frequent falls ⁶⁰		Frequent (79-30%)
35	impulsivity ³³			HP:0100710
36	distal muscle weakness ³³			HP:0002460
37	hyperactive deep tendon reflexes ⁶⁰		Frequent (79-30%)
38	postural instability ⁶⁰		Very frequent (99-80%)
39	lewy bodies ³³			HP:0100315
40	distal amyotrophy ³³			HP:0003693
41	spastic paraparesis ⁶⁰		Frequent (79-30%)
42	motor axonal neuropathy ⁶⁰		Frequent (79-30%)
43	hand tremor ⁶⁰		Very frequent (99-80%)
44	abnormal lower motor neuron morphology ³³			HP:0002366
45	abnormal globus pallidus morphology ⁶⁰		Frequent (79-30%)
46	abnormality of the substantia nigra ⁶⁰		Frequent (79-30%)
47	elevated serum creatine kinase ³³			HP:0003236

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

Head And Neck Eyes:
optic atrophy
visual loss, progressive

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

Muscle Soft Tissue:
distal muscle weakness
distal muscle atrophy

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

Neurologic Central Nervous System:
ataxia
spasticity
dysarthria
tremor
hyperreflexia
more

Skeletal Feet:
pes cavus
claw toes

Head And Neck Face:
oromandibular dystonia

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

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Drugs & Therapeutics for Neurodegeneration with Brain Iron Accumulation 4

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

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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 ³⁰	C19orf12

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Anatomical Context for Neurodegeneration with Brain Iron Accumulation 4

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

⁴²

Brain, Eye, Globus Pallidus

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Publications for Neurodegeneration with Brain Iron Accumulation 4

Articles related to Neurodegeneration with Brain Iron Accumulation 4:

#	Title	Authors	Year
1	Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing. ( 30392167 )	Sparber P...Skoblov M	2018
2	Behr syndrome with homozygous C19ORF12 mutation. ( 26187298 )	Kleffner I...Husstedt IW	2015
3	A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy. ( 23521069 )	Schottmann G...Knierim E	2014
4	Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. ( 23857908 )	Landour? G...Burnett BG	2013
5	Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration. ( 23278385 )	Dogu O...Pais?n-Ruiz C	2013
6	New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. ( 23269600 )	Hogarth P...Hayflick SJ	2013
7	A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy. ( 22508347 )	Horvath R...Chinnery PF	2012
8	C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis. ( 22584950 )	Deschauer M...Haack TB	2012
9	Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. ( 21981780 )	Hartig MB...Prokisch H	2011
10	Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. ( 20039086 )	Meilleur KG...Fischbeck KH	2010

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Genes for Neurodegeneration with Brain Iron Accumulation 4

Genes related to Neurodegeneration with Brain Iron Accumulation 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	C19orf12	Chromosome 19 Open Reading Frame 12	Protein Coding	1711.59	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name Summaries Variants (show sections)	21981780 23269600 24575447 (more) 22508347 22584950 23857908 26187298 23278385 20039086
2	WDR45	WD Repeat Domain 45	Protein Coding	23.59	DISEASES inferred ¹⁵ GeneCards inferred via : Gene name (show sections)
3	PANK2	Pantothenate Kinase 2	Protein Coding	16.92	DISEASES inferred ¹⁵
4	PLA2G6	Phospholipase A2 Group VI	Protein Coding	16.47	DISEASES inferred ¹⁵
5	DNAJC13	DnaJ Heat Shock Protein Family (Hsp40) Member C13	Protein Coding	16.02	DISEASES inferred ¹⁵

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Variations for Neurodegeneration with Brain Iron Accumulation 4

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

⁷⁶ (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

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

⁶ (show top 50) (show all 216)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	C19orf12	NM_001256047.1(C19orf12): c.171_181del (p.Gly58Argfs)	deletion	Pathogenic		GRCh38	Chromosome 19, 29702957: 29702967
2	C19orf12	NM_001256047.1(C19orf12): c.171_181del (p.Gly58Argfs)	deletion	Pathogenic		GRCh37	Chromosome 19, 30193864: 30193874
3	C19orf12	NM_001031726.3(C19orf12): c.32C> T (p.Thr11Met)	single nucleotide variant	Pathogenic	rs397514477	GRCh37	Chromosome 19, 30199322: 30199322
4	C19orf12	NM_001031726.3(C19orf12): c.32C> T (p.Thr11Met)	single nucleotide variant	Pathogenic	rs397514477	GRCh38	Chromosome 19, 29708415: 29708415
5	C19orf12	NM_001031726.3(C19orf12): c.205G> A (p.Gly69Arg)	single nucleotide variant	Pathogenic	rs515726205	GRCh37	Chromosome 19, 30193873: 30193873
6	C19orf12	NM_001031726.3(C19orf12): c.205G> A (p.Gly69Arg)	single nucleotide variant	Pathogenic	rs515726205	GRCh38	Chromosome 19, 29702966: 29702966
7	C19orf12	NM_001031726.3(C19orf12): c.424A> G (p.Lys142Glu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs146170087	GRCh37	Chromosome 19, 30193654: 30193654
8	C19orf12	NM_001031726.3(C19orf12): c.424A> G (p.Lys142Glu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs146170087	GRCh38	Chromosome 19, 29702747: 29702747
9	C19orf12	NM_001256047.1(C19orf12): c.362T> A (p.Leu121Gln)	single nucleotide variant	Pathogenic	rs387907173	GRCh37	Chromosome 19, 30193683: 30193683
10	C19orf12	NM_001256047.1(C19orf12): c.362T> A (p.Leu121Gln)	single nucleotide variant	Pathogenic	rs387907173	GRCh38	Chromosome 19, 29702776: 29702776
11	C19orf12	NM_001031726.3(C19orf12): c.187G> C (p.Ala63Pro)	single nucleotide variant	Likely pathogenic	rs376103979	GRCh37	Chromosome 19, 30199167: 30199167
12	C19orf12	NM_001031726.3(C19orf12): c.187G> C (p.Ala63Pro)	single nucleotide variant	Likely pathogenic	rs376103979	GRCh38	Chromosome 19, 29708260: 29708260
13	C19orf12	NM_001256047.1(C19orf12): c.164_166delGGG (p.Gly55del)	deletion	Pathogenic	rs398122409	GRCh37	Chromosome 19, 30193879: 30193881
14	C19orf12	NM_001256047.1(C19orf12): c.164_166delGGG (p.Gly55del)	deletion	Pathogenic	rs398122409	GRCh38	Chromosome 19, 29702972: 29702974
15	C19orf12	NM_001031726.3(C19orf12): c.357C> T (p.Thr119=)	single nucleotide variant	Benign	rs10424582	GRCh37	Chromosome 19, 30193721: 30193721
16	C19orf12	NM_001031726.3(C19orf12): c.357C> T (p.Thr119=)	single nucleotide variant	Benign	rs10424582	GRCh38	Chromosome 19, 29702814: 29702814
17	C19orf12	NM_001031726.3(C19orf12): c.425A> C (p.Lys142Thr)	single nucleotide variant	Benign/Likely benign	rs79915936	GRCh37	Chromosome 19, 30193653: 30193653
18	C19orf12	NM_001031726.3(C19orf12): c.425A> C (p.Lys142Thr)	single nucleotide variant	Benign/Likely benign	rs79915936	GRCh38	Chromosome 19, 29702746: 29702746
19	C19orf12	NM_001031726.3(C19orf12): c.204_214del11 (p.Gly69Argfs)	deletion	Pathogenic	rs515726204	GRCh38	Chromosome 19, 29702957: 29702967
20	C19orf12	NM_001031726.3(C19orf12): c.204_214del11 (p.Gly69Argfs)	deletion	Pathogenic	rs515726204	GRCh37	Chromosome 19, 30193864: 30193874
21	C19orf12	NM_001031726.3(C19orf12): c.258_259delGAinsTGGAGGAACAGT (p.Gln86Hisfs)	indel	Pathogenic	rs797045423	GRCh38	Chromosome 19, 29702912: 29702913
22	C19orf12	NM_001031726.3(C19orf12): c.258_259delGAinsTGGAGGAACAGT (p.Gln86Hisfs)	indel	Pathogenic	rs797045423	GRCh37	Chromosome 19, 30193819: 30193820
23	C19orf12	NM_001256047.1(C19orf12): c.215C> T (p.Pro72Leu)	single nucleotide variant	Pathogenic	rs201987973	GRCh38	Chromosome 19, 29702923: 29702923
24	C19orf12	NM_001256047.1(C19orf12): c.215C> T (p.Pro72Leu)	single nucleotide variant	Pathogenic	rs201987973	GRCh37	Chromosome 19, 30193830: 30193830
25	C19orf12	NM_001031726.3(C19orf12): c.249G> A (p.Pro83=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs202054484	GRCh38	Chromosome 19, 29702922: 29702922
26	C19orf12	NM_001031726.3(C19orf12): c.249G> A (p.Pro83=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs202054484	GRCh37	Chromosome 19, 30193829: 30193829
27	C19orf12	NM_001031726.3(C19orf12): c.102G> A (p.Ala34=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201118405	GRCh37	Chromosome 19, 30199252: 30199252
28	C19orf12	NM_001031726.3(C19orf12): c.102G> A (p.Ala34=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201118405	GRCh38	Chromosome 19, 29708345: 29708345
29	C19orf12	NM_001031726.3(C19orf12): c.*3520C> T	single nucleotide variant	Uncertain significance	rs886054311	GRCh37	Chromosome 19, 30190099: 30190099
30	C19orf12	NM_001031726.3(C19orf12): c.*3520C> T	single nucleotide variant	Uncertain significance	rs886054311	GRCh38	Chromosome 19, 29699192: 29699192
31	C19orf12	NM_001031726.3(C19orf12): c.*3372C> T	single nucleotide variant	Uncertain significance	rs117537955	GRCh37	Chromosome 19, 30190247: 30190247
32	C19orf12	NM_001031726.3(C19orf12): c.*3372C> T	single nucleotide variant	Uncertain significance	rs117537955	GRCh38	Chromosome 19, 29699340: 29699340
33	C19orf12	NM_001031726.3(C19orf12): c.*3337G> A	single nucleotide variant	Uncertain significance	rs868247639	GRCh37	Chromosome 19, 30190282: 30190282
34	C19orf12	NM_001031726.3(C19orf12): c.*3337G> A	single nucleotide variant	Uncertain significance	rs868247639	GRCh38	Chromosome 19, 29699375: 29699375
35	C19orf12	NM_001031726.3(C19orf12): c.*3336C> T	single nucleotide variant	Likely benign	rs10414583	GRCh37	Chromosome 19, 30190283: 30190283
36	C19orf12	NM_001031726.3(C19orf12): c.*3336C> T	single nucleotide variant	Likely benign	rs10414583	GRCh38	Chromosome 19, 29699376: 29699376
37	C19orf12	NM_001031726.3(C19orf12): c.*3294C> G	single nucleotide variant	Uncertain significance	rs886054313	GRCh37	Chromosome 19, 30190325: 30190325
38	C19orf12	NM_001031726.3(C19orf12): c.*3294C> G	single nucleotide variant	Uncertain significance	rs886054313	GRCh38	Chromosome 19, 29699418: 29699418
39	C19orf12	NM_001031726.3(C19orf12): c.*2961T> C	single nucleotide variant	Benign	rs10417597	GRCh38	Chromosome 19, 29699751: 29699751
40	C19orf12	NM_001031726.3(C19orf12): c.*2961T> C	single nucleotide variant	Benign	rs10417597	GRCh37	Chromosome 19, 30190658: 30190658
41	C19orf12	NM_001031726.3(C19orf12): c.*2956G> T	single nucleotide variant	Likely benign	rs113943151	GRCh38	Chromosome 19, 29699756: 29699756
42	C19orf12	NM_001031726.3(C19orf12): c.*2956G> T	single nucleotide variant	Likely benign	rs113943151	GRCh37	Chromosome 19, 30190663: 30190663
43	C19orf12	NM_001031726.3(C19orf12): c.*2763A> G	single nucleotide variant	Likely benign	rs113735809	GRCh38	Chromosome 19, 29699949: 29699949
44	C19orf12	NM_001031726.3(C19orf12): c.*2763A> G	single nucleotide variant	Likely benign	rs113735809	GRCh37	Chromosome 19, 30190856: 30190856
45	C19orf12	NM_001031726.3(C19orf12): c.*2186C> T	single nucleotide variant	Likely benign	rs73548135	GRCh38	Chromosome 19, 29700526: 29700526
46	C19orf12	NM_001031726.3(C19orf12): c.*2186C> T	single nucleotide variant	Likely benign	rs73548135	GRCh37	Chromosome 19, 30191433: 30191433
47	C19orf12	NM_001031726.3(C19orf12): c.*1686T> C	single nucleotide variant	Benign	rs7255131	GRCh38	Chromosome 19, 29701026: 29701026
48	C19orf12	NM_001031726.3(C19orf12): c.*1686T> C	single nucleotide variant	Benign	rs7255131	GRCh37	Chromosome 19, 30191933: 30191933
49	C19orf12	NM_001031726.3(C19orf12): c.*1488T> G	single nucleotide variant	Uncertain significance	rs777128142	GRCh38	Chromosome 19, 29701224: 29701224
50	C19orf12	NM_001031726.3(C19orf12): c.*1488T> G	single nucleotide variant	Uncertain significance	rs777128142	GRCh37	Chromosome 19, 30192131: 30192131

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Expression for Neurodegeneration with Brain Iron Accumulation 4

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

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Pathways for Neurodegeneration with Brain Iron Accumulation 4

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GO Terms for Neurodegeneration with Brain Iron Accumulation 4

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

#	Name	GO ID	Score	Top Affiliating Genes
1	integral component of membrane	GO:0016021	9.35	C19orf12 DNAJC13 PANK2 PLA2G6 WDR45
2	cytosol	GO:0005829	9.02	C19orf12 DNAJC13 PANK2 PLA2G6 WDR45

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	8.62	C19orf12 WDR45

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Sources for Neurodegeneration with Brain Iron Accumulation 4

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⁶⁰ Orphanet

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⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Neurodegeneration with Brain Iron Accumulation 4 (NBIA4)

Aliases & Classifications for Neurodegeneration with Brain Iron Accumulation 4

MalaCards integrated aliases for Neurodegeneration with Brain Iron Accumulation 4:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Neurodegeneration with Brain Iron Accumulation 4

Related Diseases for Neurodegeneration with Brain Iron Accumulation 4

Diseases in the Neurodegeneration with Brain Iron Accumulation family:

Diseases related to Neurodegeneration with Brain Iron Accumulation 4 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Neurodegeneration with Brain Iron Accumulation 4:

Drugs & Therapeutics 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:

Anatomical Context for Neurodegeneration with Brain Iron Accumulation 4

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

Publications for Neurodegeneration with Brain Iron Accumulation 4

Articles related to Neurodegeneration with Brain Iron Accumulation 4:

Genes for Neurodegeneration with Brain Iron Accumulation 4

Genes related to Neurodegeneration with Brain Iron Accumulation 4 (1 elite genes):

Variations for Neurodegeneration with Brain Iron Accumulation 4

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

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

Expression for Neurodegeneration with Brain Iron Accumulation 4

Pathways for Neurodegeneration with Brain Iron Accumulation 4

GO Terms for Neurodegeneration with Brain Iron Accumulation 4

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

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

Sources for Neurodegeneration with Brain Iron Accumulation 4