PNKD3
MCID: PRX090
MIFTS: 20

Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy (PNKD3)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without...

MalaCards integrated aliases for Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy:

Name: Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy 57 75
Generalized Epilepsy and Paroxysmal Dyskinesia 57 75 37 29 13 6 73
Gepd 57 59 75
Pnkd3 57 75
Dyskinesia, Nonkinesigenic, Paroxysmal, Type 3, with/without Generalized Epilepsy ) 40
Generalized Epilepsy and Paroxysmal Dyskinesia; Gepd 57
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
generalized epilepsy-paroxysmal dyskinesia syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation (in some patients)
patients may have seizures only, dyskinesia only, or both
onset usually in childhood (range 6 months to 16 years)
dyskinesia may be precipitated by alcohol, stress, or fatigue


HPO:

32
paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 609446
Orphanet 59 ORPHA79137
UMLS via Orphanet 74 C1836173
MedGen 42 C1836173
KEGG 37 H01258
UMLS 73 C1836173

Summaries for Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without...

UniProtKB/Swiss-Prot : 75 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy: An autosomal dominant neurologic disorder characterized by absence seizures, generalized tonic-clonic seizures, paroxysmal nonkinesigenic dyskinesia and involuntary dystonic or choreiform movements. Onset is usually in childhood. Patients may have seizures only, dyskinesia only, or both.

MalaCards based summary : Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy, is also known as generalized epilepsy and paroxysmal dyskinesia, and has symptoms including absence seizures An important gene associated with Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy is KCNMA1 (Potassium Calcium-Activated Channel Subfamily M Alpha 1), and among its related pathways/superpathways is Vascular smooth muscle contraction. Affiliated tissues include smooth muscle, and related phenotypes are nystagmus and chorea

Description from OMIM: 609446

Related Diseases for Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without...

Symptoms & Phenotypes for Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without...

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
delayed development (in some patients)
seizures, absence (in some patients)
seizures, generalized tonic-clonic (in some patients)
paroxysmal nonkinesigenic dyskinesia
involuntary dystonic or choreiform movements
more
Muscle Soft Tissue:
hypotonia (in some patients)


Clinical features from OMIM:

609446

Human phenotypes related to Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
2 chorea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002072
3 global developmental delay 59 32 very rare (1%) Occasional (29-5%) HP:0001263
4 generalized tonic-clonic seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002069
5 absence seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002121
6 generalized hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001290
7 intellectual disability, borderline 59 32 occasional (7.5%) Occasional (29-5%) HP:0006889
8 esotropia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000565
9 eeg with spike-wave complexes (>3.5 hz) 59 32 frequent (33%) Frequent (79-30%) HP:0010849
10 paroxysmal dyskinesia 59 32 frequent (33%) Frequent (79-30%) HP:0007166
11 dyskinesia 32 HP:0100660
12 generalized seizures 59 Frequent (79-30%)

UMLS symptoms related to Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy:


absence seizures

Drugs & Therapeutics for Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without...

Search Clinical Trials , NIH Clinical Center for Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy

Genetic Tests for Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without...

Genetic tests related to Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy:

# Genetic test Affiliating Genes
1 Generalized Epilepsy and Paroxysmal Dyskinesia 29 KCNMA1

Anatomical Context for Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without...

MalaCards organs/tissues related to Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy:

41
Smooth Muscle

Publications for Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without...

Variations for Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without...

UniProtKB/Swiss-Prot genetic disease variations for Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy:

75
# Symbol AA change Variation ID SNP ID
1 KCNMA1 p.Asp434Gly VAR_023821 rs137853333
2 KCNMA1 p.Glu884Lys VAR_079156
3 KCNMA1 p.Asn1053Ser VAR_079157 rs886039469

ClinVar genetic disease variations for Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy:

6 (show top 50) (show all 268)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNMA1 NM_001014797.2(KCNMA1): c.1301A> G (p.Asp434Gly) single nucleotide variant Pathogenic rs137853333 GRCh37 Chromosome 10, 78850191: 78850191
2 KCNMA1 NM_001014797.2(KCNMA1): c.1301A> G (p.Asp434Gly) single nucleotide variant Pathogenic rs137853333 GRCh38 Chromosome 10, 77090433: 77090433
3 KCNMA1 NM_002247.3(KCNMA1): c.1578G> T (p.Leu526=) single nucleotide variant Benign/Likely benign rs74140280 GRCh37 Chromosome 10, 78839254: 78839254
4 KCNMA1 NM_002247.3(KCNMA1): c.1578G> T (p.Leu526=) single nucleotide variant Benign/Likely benign rs74140280 GRCh38 Chromosome 10, 77079496: 77079496
5 KCNMA1 NM_002247.3(KCNMA1): c.1680C> A (p.Ala560=) single nucleotide variant Conflicting interpretations of pathogenicity rs2229008 GRCh37 Chromosome 10, 78832924: 78832924
6 KCNMA1 NM_002247.3(KCNMA1): c.1680C> A (p.Ala560=) single nucleotide variant Conflicting interpretations of pathogenicity rs2229008 GRCh38 Chromosome 10, 77073166: 77073166
7 KCNMA1 NM_002247.3(KCNMA1): c.2015+7G> A single nucleotide variant Benign/Likely benign rs78670694 GRCh37 Chromosome 10, 78778764: 78778764
8 KCNMA1 NM_002247.3(KCNMA1): c.2015+7G> A single nucleotide variant Benign/Likely benign rs78670694 GRCh38 Chromosome 10, 77019006: 77019006
9 KCNMA1 NM_002247.3(KCNMA1): c.2217T> C (p.Asp739=) single nucleotide variant Benign/Likely benign rs77280228 GRCh37 Chromosome 10, 78713652: 78713652
10 KCNMA1 NM_002247.3(KCNMA1): c.2217T> C (p.Asp739=) single nucleotide variant Benign/Likely benign rs77280228 GRCh38 Chromosome 10, 76953894: 76953894
11 KCNMA1 NM_002247.3(KCNMA1): c.2352C> T (p.Val784=) single nucleotide variant Conflicting interpretations of pathogenicity rs41274568 GRCh37 Chromosome 10, 78709083: 78709083
12 KCNMA1 NM_002247.3(KCNMA1): c.2352C> T (p.Val784=) single nucleotide variant Conflicting interpretations of pathogenicity rs41274568 GRCh38 Chromosome 10, 76949325: 76949325
13 KCNMA1 NM_002247.3(KCNMA1): c.2536-8T> C single nucleotide variant Benign/Likely benign rs78672251 GRCh37 Chromosome 10, 78704731: 78704731
14 KCNMA1 NM_002247.3(KCNMA1): c.2536-8T> C single nucleotide variant Benign/Likely benign rs78672251 GRCh38 Chromosome 10, 76944973: 76944973
15 KCNMA1 NM_002247.3(KCNMA1): c.3021C> T (p.Thr1007=) single nucleotide variant Conflicting interpretations of pathogenicity rs45527834 GRCh37 Chromosome 10, 78651430: 78651430
16 KCNMA1 NM_002247.3(KCNMA1): c.3021C> T (p.Thr1007=) single nucleotide variant Conflicting interpretations of pathogenicity rs45527834 GRCh38 Chromosome 10, 76891672: 76891672
17 KCNMA1 NM_001014797.2(KCNMA1): c.31_54del24 (p.Ser11_Gly18del) deletion Uncertain significance rs587780364 GRCh37 Chromosome 10, 79397347: 79397370
18 KCNMA1 NM_001014797.2(KCNMA1): c.31_54del24 (p.Ser11_Gly18del) deletion Uncertain significance rs587780364 GRCh38 Chromosome 10, 77637589: 77637612
19 KCNMA1 NM_002247.3(KCNMA1): c.687C> T (p.Phe229=) single nucleotide variant Benign/Likely benign rs1131824 GRCh37 Chromosome 10, 78944590: 78944590
20 KCNMA1 NM_002247.3(KCNMA1): c.687C> T (p.Phe229=) single nucleotide variant Benign/Likely benign rs1131824 GRCh38 Chromosome 10, 77184832: 77184832
21 KCNMA1 NM_002247.3(KCNMA1): c.90C> T (p.His30=) single nucleotide variant Benign/Likely benign rs75040504 GRCh37 Chromosome 10, 79397311: 79397311
22 KCNMA1 NM_002247.3(KCNMA1): c.90C> T (p.His30=) single nucleotide variant Benign/Likely benign rs75040504 GRCh38 Chromosome 10, 77637553: 77637553
23 KCNMA1 NM_002247.3(KCNMA1): c.135_137dupCTC (p.Ser60_Val61insSer) duplication Benign/Likely benign rs572827902 GRCh37 Chromosome 10, 79397264: 79397266
24 KCNMA1 NM_002247.3(KCNMA1): c.135_137dupCTC (p.Ser60_Val61insSer) duplication Benign/Likely benign rs572827902 GRCh38 Chromosome 10, 77637506: 77637508
25 KCNMA1 NM_002247.3(KCNMA1): c.34A> G (p.Ser12Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs77602559 GRCh37 Chromosome 10, 79397367: 79397367
26 KCNMA1 NM_002247.3(KCNMA1): c.34A> G (p.Ser12Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs77602559 GRCh38 Chromosome 10, 77637609: 77637609
27 KCNMA1 NM_002247.3(KCNMA1): c.54_56dup (p.Gly20_Ser21insGly) duplication Conflicting interpretations of pathogenicity rs760628050 GRCh37 Chromosome 10, 79397345: 79397347
28 KCNMA1 NM_002247.3(KCNMA1): c.54_56dup (p.Gly20_Ser21insGly) duplication Conflicting interpretations of pathogenicity rs760628050 GRCh38 Chromosome 10, 77637587: 77637589
29 KCNMA1 NM_002247.3(KCNMA1): c.153_155delTTC (p.Ser60del) deletion Conflicting interpretations of pathogenicity rs751901610 GRCh37 Chromosome 10, 79397246: 79397248
30 KCNMA1 NM_002247.3(KCNMA1): c.153_155delTTC (p.Ser60del) deletion Conflicting interpretations of pathogenicity rs751901610 GRCh38 Chromosome 10, 77637488: 77637490
31 KCNMA1 NM_002247.3(KCNMA1): c.162_173delCTCTTCCTCCTC (p.Ser57_Ser60del) deletion Conflicting interpretations of pathogenicity rs754606765 GRCh37 Chromosome 10, 79397228: 79397239
32 KCNMA1 NM_002247.3(KCNMA1): c.162_173delCTCTTCCTCCTC (p.Ser57_Ser60del) deletion Conflicting interpretations of pathogenicity rs754606765 GRCh38 Chromosome 10, 77637470: 77637481
33 KCNMA1 NM_002247.3(KCNMA1): c.2391C> T (p.Ile797=) single nucleotide variant Benign/Likely benign rs2229009 GRCh37 Chromosome 10, 78709044: 78709044
34 KCNMA1 NM_002247.3(KCNMA1): c.2391C> T (p.Ile797=) single nucleotide variant Benign/Likely benign rs2229009 GRCh38 Chromosome 10, 76949286: 76949286
35 KCNMA1 NM_002247.3(KCNMA1): c.2877C> T (p.Asp959=) single nucleotide variant Benign/Likely benign rs115772068 GRCh37 Chromosome 10, 78669820: 78669820
36 KCNMA1 NM_002247.3(KCNMA1): c.2877C> T (p.Asp959=) single nucleotide variant Benign/Likely benign rs115772068 GRCh38 Chromosome 10, 76910062: 76910062
37 KCNMA1 NM_002247.3(KCNMA1): c.1054A> G (p.Thr352Ala) single nucleotide variant Likely pathogenic rs863224885 GRCh38 Chromosome 10, 77110250: 77110250
38 KCNMA1 NM_002247.3(KCNMA1): c.1054A> G (p.Thr352Ala) single nucleotide variant Likely pathogenic rs863224885 GRCh37 Chromosome 10, 78870008: 78870008
39 KCNMA1 NM_002247.3(KCNMA1): c.2984A> G (p.Asn995Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs886039469 GRCh37 Chromosome 10, 78651467: 78651467
40 KCNMA1 NM_002247.3(KCNMA1): c.2984A> G (p.Asn995Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs886039469 GRCh38 Chromosome 10, 76891709: 76891709
41 KCNMA1 NM_002247.3(KCNMA1): c.3066C> T (p.Asn1022=) single nucleotide variant Conflicting interpretations of pathogenicity rs45586138 GRCh37 Chromosome 10, 78651385: 78651385
42 KCNMA1 NM_002247.3(KCNMA1): c.3066C> T (p.Asn1022=) single nucleotide variant Conflicting interpretations of pathogenicity rs45586138 GRCh38 Chromosome 10, 76891627: 76891627
43 KCNMA1 NM_002247.3(KCNMA1): c.2373C> T (p.Asp791=) single nucleotide variant Conflicting interpretations of pathogenicity rs147369374 GRCh37 Chromosome 10, 78709062: 78709062
44 KCNMA1 NM_002247.3(KCNMA1): c.2373C> T (p.Asp791=) single nucleotide variant Conflicting interpretations of pathogenicity rs147369374 GRCh38 Chromosome 10, 76949304: 76949304
45 KCNMA1 NM_002247.3(KCNMA1): c.89A> G (p.His30Arg) single nucleotide variant Uncertain significance rs200474297 GRCh37 Chromosome 10, 79397312: 79397312
46 KCNMA1 NM_002247.3(KCNMA1): c.89A> G (p.His30Arg) single nucleotide variant Uncertain significance rs200474297 GRCh38 Chromosome 10, 77637554: 77637554
47 KCNMA1 NM_002247.3(KCNMA1): c.2501C> T (p.Thr834Met) single nucleotide variant Uncertain significance rs200440843 GRCh37 Chromosome 10, 78708934: 78708934
48 KCNMA1 NM_002247.3(KCNMA1): c.2501C> T (p.Thr834Met) single nucleotide variant Uncertain significance rs200440843 GRCh38 Chromosome 10, 76949176: 76949176
49 KCNMA1 NM_002247.3(KCNMA1): c.1320C> T (p.Ile440=) single nucleotide variant Conflicting interpretations of pathogenicity rs45617636 GRCh37 Chromosome 10, 78850172: 78850172
50 KCNMA1 NM_002247.3(KCNMA1): c.1320C> T (p.Ile440=) single nucleotide variant Conflicting interpretations of pathogenicity rs45617636 GRCh38 Chromosome 10, 77090414: 77090414

Expression for Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without...

Search GEO for disease gene expression data for Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy.

Pathways for Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without...

Pathways related to Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy according to KEGG:

37
# Name Kegg Source Accession
1 Vascular smooth muscle contraction hsa04270

GO Terms for Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without...

Sources for Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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28 GO
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31 HMDB
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58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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