MCID: JMP002
MIFTS: 24

Jumping Frenchmen of Maine

Categories: Rare diseases

Aliases & Classifications for Jumping Frenchmen of Maine

MalaCards integrated aliases for Jumping Frenchmen of Maine:

Name: Jumping Frenchmen of Maine 56 74 52
Exaggerated Startle Reflex 52
Hereditary Hyperexplexia 71
'jumpers' of Maine 52
Startle Disease 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
jumping frenchmen of maine:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 244100
MedGen 41 C1280764
SNOMED-CT via HPO 68 258211005 88425004
UMLS 71 C1835614

Summaries for Jumping Frenchmen of Maine

NIH Rare Diseases : 52 Jumping Frenchmen of Maine is a condition characterized by an unusually extreme startle response. The exact cause of the condition is unknown. One theory is that the disorder occurs because of an extreme conditioned response to a particular situation influenced by cultural factors. It was first identified during the late nineteenth century in Maine and the Canadian province of Quebec in an isolated population of lumberjacks of French Canadian descent. Jumping Frenchmen of Maine is a type of startle-matching syndrome . These syndromes have been described in many different parts of the world.

MalaCards based summary : Jumping Frenchmen of Maine, also known as exaggerated startle reflex, is related to sudden infant death with dysgenesis of the testes syndrome and epileptic encephalopathy, early infantile, 8, and has symptoms including myoclonus and muscle rigidity. The drugs Glycine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include brain and testes, and related phenotype is abnormality of the nervous system.

Wikipedia : 74 The Jumping Frenchmen of Maine were a group of 19th-century lumberjacks who exhibited a rare disorder of... more...

More information from OMIM: 244100

Related Diseases for Jumping Frenchmen of Maine

Graphical network of the top 20 diseases related to Jumping Frenchmen of Maine:



Diseases related to Jumping Frenchmen of Maine

Symptoms & Phenotypes for Jumping Frenchmen of Maine

Human phenotypes related to Jumping Frenchmen of Maine:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the nervous system 31 HP:0000707

Symptoms via clinical synopsis from OMIM:

56
Neuro:
exaggerated startle reflex
abnormal response to sudden sensory input
echo words of command
psychologic operant conditioning

Clinical features from OMIM:

244100

UMLS symptoms related to Jumping Frenchmen of Maine:


myoclonus, muscle rigidity

Drugs & Therapeutics for Jumping Frenchmen of Maine

Drugs for Jumping Frenchmen of Maine (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycine Approved, Nutraceutical, Vet_approved 56-40-6 750
2 Neurotransmitter Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effects of Mutations of the Glycine Gene Associated With Hyperekplexia on Central Pain Processing Terminated NCT01476514

Search NIH Clinical Center for Jumping Frenchmen of Maine

Genetic Tests for Jumping Frenchmen of Maine

Anatomical Context for Jumping Frenchmen of Maine

MalaCards organs/tissues related to Jumping Frenchmen of Maine:

40
Brain, Testes

Publications for Jumping Frenchmen of Maine

Articles related to Jumping Frenchmen of Maine:

(show top 50) (show all 135)
# Title Authors PMID Year
1
Jumping Frenchmen of Maine. 61 56
3528919 1986
2
Startle disease or hyperekplexia: further delineation of the syndrome. 61 56
6777025 1980
3
"JUMPING FRENCHMEN OF MAINE." MYRIACHIT. 61 56
14247390 1965
4
In appreciation of jumping Frenchmen. 56
7282768 1981
5
Hijacking of GABAA Receptors by Mutant Glycine Receptors. 61
31521561 2019
6
Recognizing Movement Disorder Emergencies - A Practical Review For Non-Neurologist. 61
31535526 2019
7
A glycine transporter SLC6A5 frameshift mutation causes startle disease in Spanish greyhounds. 61
30847549 2019
8
Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report. 61
30866851 2019
9
Hyperekplexia-associated mutations in the neuronal glycine transporter 2. 61
29859229 2019
10
Weird Laughing in Hyperekplexia: A new phenotype associated with a novel mutation in the GLRA1 gene? 61
29602144 2018
11
A Missense Mutation A384P Associated with Human Hyperekplexia Reveals a Desensitization Site of Glycine Receptors. 61
29440552 2018
12
Functional Consequences of the Postnatal Switch From Neonatal to Mutant Adult Glycine Receptor α1 Subunits in the Shaky Mouse Model of Startle Disease. 61
29910711 2018
13
Structure/Function Studies of the α4 Subunit Reveal Evolutionary Loss of a GlyR Subtype Involved in Startle and Escape Responses. 61
29445326 2018
14
Impaired Glycine Receptor Trafficking in Neurological Diseases. 61
30186111 2018
15
Disruption of a Structurally Important Extracellular Element in the Glycine Receptor Leads to Decreased Synaptic Integration and Signaling Resulting in Severe Startle Disease. 61
28724750 2017
16
The Startle Disease Mutation E103K Impairs Activation of Human Homomeric α1 Glycine Receptors by Disrupting an Intersubunit Salt Bridge across the Agonist Binding Site. 61
28174298 2017
17
[Clinical and genetic analysis of hyperekplexia in a Chinese child and literature review]. 61
28173650 2017
18
The GlyR Extracellular β8-β9 Loop - A Functional Determinant of Agonist Potency. 61
29062270 2017
19
Familiar Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes. 61
28122427 2017
20
Synaptopathies: synaptic dysfunction in neurological disorders - A review from students to students. 61
27333343 2016
21
Murine startle mutant Nmf11 affects the structural stability of the glycine receptor and increases deactivation. 61
27028707 2016
22
A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report. 61
26968164 2016
23
TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. 61
26701950 2015
24
"Jumping Frenchmen of Maine". 61
25734750 2015
25
Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia. 61
25480793 2015
26
Distinct phenotypes in zebrafish models of human startle disease. 61
24029548 2013
27
Glycine transporters as novel therapeutic targets in schizophrenia, alcohol dependence and pain. 61
24172334 2013
28
Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease. 61
23238346 2013
29
Calnexin-assisted biogenesis of the neuronal glycine transporter 2 (GlyT2). 61
23650557 2013
30
4-Chloropropofol enhances chloride currents in human hyperekplexic and artificial mutated glycine receptors. 61
23006332 2012
31
A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2. 61
22753417 2012
32
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease. 61
22700964 2012
33
Molecular mechanisms of glycine transporter GlyT2 mutations in startle disease. 61
22114948 2012
34
The α1K276E startle disease mutation reveals multiple intermediate states in the gating of glycine receptors. 61
22279218 2012
35
Contributions of conserved residues at the gating interface of glycine receptors. 61
21835920 2011
36
Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene. 61
21420493 2011
37
Startle syndromes. 61
21496599 2011
38
β Subunit M2-M3 loop conformational changes are uncoupled from α1 β glycine receptor channel gating: implications for human hereditary hyperekplexia. 61
22132222 2011
39
Molecular sites for the positive allosteric modulation of glycine receptors by endocannabinoids. 61
21901142 2011
40
The glycinergic system in human startle disease: a genetic screening approach. 61
20407582 2010
41
Chapter 33: the history of movement disorders. 61
19892136 2010
42
Defective glycinergic synaptic transmission in zebrafish motility mutants. 61
20161699 2009
43
Identification of a de novo Lys304Gln mutation in the glycine receptor alpha-1 subunit gene in a Korean infant with hyperekplexia. 61
18175347 2008
44
Anaesthetic implications of hyperekplexia--'startle disease'. 61
18361020 2008
45
The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor. 61
18043720 2008
46
Cellular and neurophysiological effects of high ambient pressure. 61
18351122 2008
47
The effect of levetiracetam in startle disease. 61
17401745 2007
48
Single-channel study of the spasmodic mutation alpha1A52S in recombinant rat glycine receptors. 61
17331994 2007
49
Hyperekplexia (startle disease) mimicking neonatal seizures: report of one case. 61
19653412 2007
50
Hyperekplexia phenotype of glycine receptor alpha1 subunit mutant mice identifies Zn(2+) as an essential endogenous modulator of glycinergic neurotransmission. 61
17114051 2006

Variations for Jumping Frenchmen of Maine

Expression for Jumping Frenchmen of Maine

Search GEO for disease gene expression data for Jumping Frenchmen of Maine.

Pathways for Jumping Frenchmen of Maine

GO Terms for Jumping Frenchmen of Maine

Sources for Jumping Frenchmen of Maine

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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