MCID: HYP519
MIFTS: 18

Hyperekplexia 3

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

Aliases & Classifications for Hyperekplexia 3

MalaCards integrated aliases for Hyperekplexia 3:

Name: Hyperekplexia 3 57 12 75 29 13 6 73
Hkpx3 57 12 75
Hyperekplexia, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive

Miscellaneous:
onset in infancy
some patients have resolution of symptoms in first year of life


HPO:

32
hyperekplexia 3:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 57 614618
Disease Ontology 12 DOID:0060698
ICD10 33 G25.8
MeSH 44 D013216
UMLS 73 C3553288

Summaries for Hyperekplexia 3

UniProtKB/Swiss-Prot : 75 Hyperekplexia 3: A neurologic disorder characterized by neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life- threatening neonatal apnea episodes. Notably, in some cases, symptoms resolved in the first year of life.

MalaCards based summary : Hyperekplexia 3, is also known as hkpx3, and has symptoms including muscular stiffness An important gene associated with Hyperekplexia 3 is SLC6A5 (Solute Carrier Family 6 Member 5). Related phenotypes are hypertonia and apnea

Disease Ontology : 12 A hyperekplexia that has material basis in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15.

Description from OMIM: 614618

Related Diseases for Hyperekplexia 3

Symptoms & Phenotypes for Hyperekplexia 3

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
apneic episodes, neonatal
breath-holding episodes, infancy

Neurologic Central Nervous System:
exaggerated startle response to tactile or acoustic stimuli
hypertonicity

Muscle Soft Tissue:
hypertonia, neonatal
muscle stiffness


Clinical features from OMIM:

614618

Human phenotypes related to Hyperekplexia 3:

32
# Description HPO Frequency HPO Source Accession
1 hypertonia 32 HP:0001276
2 apnea 32 HP:0002104
3 exaggerated startle response 32 HP:0002267
4 muscle stiffness 32 HP:0003552

UMLS symptoms related to Hyperekplexia 3:


muscular stiffness

Drugs & Therapeutics for Hyperekplexia 3

Search Clinical Trials , NIH Clinical Center for Hyperekplexia 3

Genetic Tests for Hyperekplexia 3

Genetic tests related to Hyperekplexia 3:

# Genetic test Affiliating Genes
1 Hyperekplexia 3 29 SLC6A5

Anatomical Context for Hyperekplexia 3

Publications for Hyperekplexia 3

Variations for Hyperekplexia 3

UniProtKB/Swiss-Prot genetic disease variations for Hyperekplexia 3:

75
# Symbol AA change Variation ID SNP ID
1 SLC6A5 p.Leu306Val VAR_044168 rs121908496
2 SLC6A5 p.Thr425Met VAR_044169 rs121908498
3 SLC6A5 p.Trp482Cys VAR_044171
4 SLC6A5 p.Tyr491Cys VAR_044172 rs121908494
5 SLC6A5 p.Asn509Ser VAR_044174 rs121908497
6 SLC6A5 p.Ser510Arg VAR_044175 rs281864926

ClinVar genetic disease variations for Hyperekplexia 3:

6
(show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC6A5 NM_004211.4(SLC6A5): c.1131C> A (p.Tyr377Ter) single nucleotide variant Pathogenic rs121908493 GRCh37 Chromosome 11, 20639301: 20639301
2 SLC6A5 NM_004211.4(SLC6A5): c.1131C> A (p.Tyr377Ter) single nucleotide variant Pathogenic rs121908493 GRCh38 Chromosome 11, 20617755: 20617755
3 SLC6A5 NM_004211.4(SLC6A5): c.1294delGinsTT (p.Val432Phefs) indel Pathogenic rs281864924 GRCh37 Chromosome 11, 20648287: 20648287
4 SLC6A5 NM_004211.4(SLC6A5): c.1294delGinsTT (p.Val432Phefs) indel Pathogenic rs281864924 GRCh38 Chromosome 11, 20626741: 20626741
5 SLC6A5 NM_004211.4(SLC6A5): c.1472A> G (p.Tyr491Cys) single nucleotide variant Pathogenic rs121908494 GRCh37 Chromosome 11, 20649602: 20649602
6 SLC6A5 NM_004211.4(SLC6A5): c.1472A> G (p.Tyr491Cys) single nucleotide variant Pathogenic rs121908494 GRCh38 Chromosome 11, 20628056: 20628056
7 SLC6A5 NM_004211.4(SLC6A5): c.1888C> T (p.Gln630Ter) single nucleotide variant Pathogenic rs121908495 GRCh37 Chromosome 11, 20660023: 20660023
8 SLC6A5 NM_004211.4(SLC6A5): c.1888C> T (p.Gln630Ter) single nucleotide variant Pathogenic rs121908495 GRCh38 Chromosome 11, 20638477: 20638477
9 SLC6A5 NM_004211.4(SLC6A5): c.916C> G (p.Leu306Val) single nucleotide variant Pathogenic rs121908496 GRCh37 Chromosome 11, 20629129: 20629129
10 SLC6A5 NM_004211.4(SLC6A5): c.916C> G (p.Leu306Val) single nucleotide variant Pathogenic rs121908496 GRCh38 Chromosome 11, 20607583: 20607583
11 SLC6A5 NM_004211.4(SLC6A5): c.1526A> G (p.Asn509Ser) single nucleotide variant Pathogenic rs121908497 GRCh37 Chromosome 11, 20652263: 20652263
12 SLC6A5 NM_004211.4(SLC6A5): c.1526A> G (p.Asn509Ser) single nucleotide variant Pathogenic rs121908497 GRCh38 Chromosome 11, 20630717: 20630717
13 SLC6A5 NM_004211.4(SLC6A5): c.1274C> T (p.Thr425Met) single nucleotide variant Pathogenic rs121908498 GRCh37 Chromosome 11, 20648267: 20648267
14 SLC6A5 NM_004211.4(SLC6A5): c.1274C> T (p.Thr425Met) single nucleotide variant Pathogenic rs121908498 GRCh38 Chromosome 11, 20626721: 20626721
15 SLC6A5 NM_004211.4(SLC6A5): c.1530T> G (p.Ser510Arg) single nucleotide variant Pathogenic rs281864926 GRCh37 Chromosome 11, 20652267: 20652267
16 SLC6A5 NM_004211.4(SLC6A5): c.1530T> G (p.Ser510Arg) single nucleotide variant Pathogenic rs281864926 GRCh38 Chromosome 11, 20630721: 20630721
17 SLC6A5 NM_004211.4(SLC6A5): c.1444T> C (p.Trp482Arg) single nucleotide variant Pathogenic rs281864925 GRCh37 Chromosome 11, 20649574: 20649574
18 SLC6A5 NM_004211.4(SLC6A5): c.1444T> C (p.Trp482Arg) single nucleotide variant Pathogenic rs281864925 GRCh38 Chromosome 11, 20628028: 20628028
19 SLC6A5 NM_004211.4(SLC6A5): c.323delC (p.Pro108Leufs) deletion Pathogenic rs281864923 GRCh37 Chromosome 11, 20622994: 20622994
20 SLC6A5 NM_004211.4(SLC6A5): c.323delC (p.Pro108Leufs) deletion Pathogenic rs281864923 GRCh38 Chromosome 11, 20601448: 20601448
21 SLC6A5 NM_004211.4(SLC6A5): c.266C> A (p.Ala89Glu) single nucleotide variant Benign/Likely benign rs61736602 GRCh37 Chromosome 11, 20622937: 20622937
22 SLC6A5 NM_004211.4(SLC6A5): c.266C> A (p.Ala89Glu) single nucleotide variant Benign/Likely benign rs61736602 GRCh38 Chromosome 11, 20601391: 20601391
23 SLC6A5 NM_004211.4(SLC6A5): c.342C> G (p.Pro114=) single nucleotide variant Benign/Likely benign rs61736605 GRCh38 Chromosome 11, 20601467: 20601467
24 SLC6A5 NM_004211.4(SLC6A5): c.342C> G (p.Pro114=) single nucleotide variant Benign/Likely benign rs61736605 GRCh37 Chromosome 11, 20623013: 20623013
25 SLC6A5 NM_004211.4(SLC6A5): c.2103G> A (p.Glu701=) single nucleotide variant Benign rs2276433 GRCh38 Chromosome 11, 20652321: 20652321
26 SLC6A5 NM_004211.4(SLC6A5): c.2103G> A (p.Glu701=) single nucleotide variant Benign rs2276433 GRCh37 Chromosome 11, 20673867: 20673867
27 SLC6A5 NM_004211.4(SLC6A5): c.395C> G (p.Ala132Gly) single nucleotide variant Benign rs34243519 GRCh38 Chromosome 11, 20601520: 20601520
28 SLC6A5 NM_004211.4(SLC6A5): c.395C> G (p.Ala132Gly) single nucleotide variant Benign rs34243519 GRCh37 Chromosome 11, 20623066: 20623066
29 SLC6A5 NM_004211.4(SLC6A5): c.500C> A (p.Thr167Lys) single nucleotide variant Benign rs61736603 GRCh38 Chromosome 11, 20601625: 20601625
30 SLC6A5 NM_004211.4(SLC6A5): c.500C> A (p.Thr167Lys) single nucleotide variant Benign rs61736603 GRCh37 Chromosome 11, 20623171: 20623171
31 SLC6A5 NM_004211.4(SLC6A5): c.683C> A (p.Ala228Asp) single nucleotide variant Uncertain significance rs371265931 GRCh38 Chromosome 11, 20607010: 20607010
32 SLC6A5 NM_004211.4(SLC6A5): c.683C> A (p.Ala228Asp) single nucleotide variant Uncertain significance rs371265931 GRCh37 Chromosome 11, 20628556: 20628556
33 SLC6A5 NM_004211.4(SLC6A5): c.1640T> C (p.Phe547Ser) single nucleotide variant Uncertain significance rs772652517 GRCh38 Chromosome 11, 20636322: 20636322
34 SLC6A5 NM_004211.4(SLC6A5): c.1640T> C (p.Phe547Ser) single nucleotide variant Uncertain significance rs772652517 GRCh37 Chromosome 11, 20657868: 20657868
35 SLC6A5 NM_004211.4(SLC6A5): c.811+3G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 20607141: 20607141
36 SLC6A5 NM_004211.4(SLC6A5): c.811+3G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 20628687: 20628687

Expression for Hyperekplexia 3

Search GEO for disease gene expression data for Hyperekplexia 3.

Pathways for Hyperekplexia 3

GO Terms for Hyperekplexia 3

Sources for Hyperekplexia 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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