MCID: JMP002
MIFTS: 19

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 53 72 49
Exaggerated Startle Reflex 49
Hereditary Hyperexplexia 69
'jumpers' of Maine 49
Startle Disease 49

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
jumping frenchmen of maine:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 244100
MedGen 39 C1280764
SNOMED-CT via HPO 65 258211005 88425004
UMLS 69 C1835614

Summaries for Jumping Frenchmen of Maine

NIH Rare Diseases : 49 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. Last updated: 11/20/2015

MalaCards based summary : Jumping Frenchmen of Maine, also known as exaggerated startle reflex, is related to hyperekplexia and hyperekplexia, hereditary 1, and has symptoms including abnormality of the nervous system, myoclonus and muscle rigidity.

Wikipedia : 72 The Jumping Frenchmen of Maine were a group of 19th-century lumberjacks who exhibited a rare disorder of... more...

Description from OMIM: 244100

Related Diseases for Jumping Frenchmen of Maine

Diseases related to Jumping Frenchmen of Maine via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hyperekplexia 11.6
2 hyperekplexia, hereditary 1 11.1
3 epileptic encephalopathy, early infantile, 8 11.0
4 post-traumatic stress disorder 10.1
5 spasticity 9.8
6 epilepsy 9.7
7 startle epilepsy 9.7

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

Symptoms via clinical synopsis from OMIM:

53
Neuro:
exaggerated startle reflex
abnormal response to sudden sensory input
echo words of command
psychologic operant conditioning


Clinical features from OMIM:

244100

Human phenotypes related to Jumping Frenchmen of Maine:

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

UMLS symptoms related to Jumping Frenchmen of Maine:


myoclonus, muscle rigidity

Drugs & Therapeutics for Jumping Frenchmen of Maine

Search Clinical Trials , NIH Clinical Center for Jumping Frenchmen of Maine

Genetic Tests for Jumping Frenchmen of Maine

Anatomical Context for Jumping Frenchmen of Maine

Publications for Jumping Frenchmen of Maine

Articles related to Jumping Frenchmen of Maine:

# Title Authors Year
1
Jumping Frenchmen of Maine. ( 11391751 )
2001
2
From the jumping Frenchmen of Maine to post-traumatic stress disorder: the startle response in neuropsychiatry. ( 1410093 )
1992
3
Jumping Frenchmen of Maine. ( 3528919 )
1986
4
Are the jumping Frenchmen of Maine goosey? ( 7382063 )
1980
5
JUMPING FRENCHMEN OF MAINE. ( 14245522 )
1965
6
"JUMPING FRENCHMEN OF MAINE." MYRIACHIT. ( 14247390 )
1965
7
Jumping Frenchmen of Maine (myriachit). ( 5213092 )
1964

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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