Disease #01387 (DejerineSottas (Dejerine-Sottas disease (hypertrophic neuropathy)), OMIM:145900)

Official abbreviation	DejerineSottas
Name	Dejerine-Sottas disease (hypertrophic neuropathy)
OMIM ID	145900
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant, Autosomal recessive
Individuals reported having this disease	39
Phenotype entries for this disease	20
Associated with 4 genes	EGR2, MPZ, PMP22, PRX
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2022-01-06 13:53:03 +01:00 (CET)

Individuals

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
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- (not applicable)
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Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

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<=	Date	<=2020-06	all entries in or before June, 2020
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>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
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Example	Matches
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39 entries on 1 page. Showing entries 1 - 39.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00063632	-	PubMed: Floroskufi 2006	-	-	-	-	-	-	-	-	-	DejerineSottas	-	MPZ	MPZ	1	1	Johan den Dunnen
00063641	-	PubMed: Plante-Bordeneuve 2001	-	-	-	-	-	-	-	-	-	DejerineSottas	-	MPZ	MPZ	1	1	Johan den Dunnen
00063660	-	PubMed: Hayasaka 1993	-	-	-	-	-	-	-	-	-	DejerineSottas	-	MPZ	MPZ	1	1	Johan den Dunnen
00063663	-	PubMed: Ikegami 1996	-	-	-	-	-	-	-	-	-	DejerineSottas	-	MPZ	MPZ	1	1	Johan den Dunnen
00063681	-	PubMed: Silander 1996	-	-	-	-	-	-	-	-	-	DejerineSottas	-	MPZ	MPZ	1	1	Johan den Dunnen
00063710	-	PubMed: Ikegami 1998	-	-	-	-	-	-	-	-	-	DejerineSottas	-	MPZ	MPZ	1	1	Johan den Dunnen
00063714	-	PubMed: Braathen 2010	-	-	-	-	-	-	-	-	-	DejerineSottas	-	MPZ	MPZ	1	1	Johan den Dunnen
00063719	-	PubMed: Schiavon 1998	-	-	-	-	-	-	-	-	-	DejerineSottas	-	MPZ	MPZ	1	1	Johan den Dunnen
00063720	-	PubMed: Nelis 1999	-	-	-	-	-	-	-	-	-	DejerineSottas	-	MPZ	MPZ	1	1	Johan den Dunnen
00063736	-	PubMed: Boerkoel 2002	-	-	-	-	-	-	-	-	-	DejerineSottas	-	MPZ	MPZ	1	1	Johan den Dunnen
00063757	-	PubMed: Tyson 1997	-	-	-	-	-	-	-	-	-	DejerineSottas	-	MPZ	MPZ	1	1	Johan den Dunnen
00063759	-	PubMed: Hayasaka 1993	-	-	-	-	-	-	-	-	-	DejerineSottas	-	MPZ	MPZ	1	1	Johan den Dunnen
00063767	-	PubMed: Tachi 1998	-	-	-	-	-	-	-	-	-	DejerineSottas	-	MPZ	MPZ	1	1	Johan den Dunnen
00063778	-	PubMed: Plante-Bordeneuve 2001	-	-	-	-	-	-	-	-	-	DejerineSottas	-	MPZ	MPZ	1	1	Johan den Dunnen
00063779	-	PubMed: Rautenstra 1994	-	-	-	-	-	-	-	-	-	DejerineSottas	-	MPZ	MPZ	1	1	Johan den Dunnen
00151902	-	PubMed: Takashima 2002	-	-	-	-	-	-	-	-	-	DejerineSottas	-	PRX	PRX	1	1	Johan den Dunnen
00151908	-	PubMed: Boerkoel 2001	-	-	-	-	-	-	-	-	-	DejerineSottas	-	PRX	PRX	1	1	Johan den Dunnen
00151914	-	PubMed: Boerkoel 2001	-	-	-	-	-	-	-	-	-	DejerineSottas	-	PRX	PRX	1	1	Johan den Dunnen
00151916	-	PubMed: Boerkoel 2001	-	-	-	-	-	-	-	-	-	DejerineSottas	-	PRX	PRX	1	1	Johan den Dunnen
00151917	-	PubMed: Boerkoel 2001	-	-	-	-	-	-	-	-	-	DejerineSottas	-	PRX	PRX	1	1	Johan den Dunnen
00210574	-	PubMed: Roa 1993	-	-	-	-	-	-	-	-	-	DejerineSottas	-	PMP22	PMP22	1	1	Johan den Dunnen
00210576	-	PubMed: Boerkoel 2002	-	-	-	-	-	-	-	-	-	DejerineSottas	-	PMP22	PMP22	1	1	Johan den Dunnen
00210577	-	PubMed: Nelis 1999	-	-	-	-	-	-	-	-	-	DejerineSottas	-	PMP22	PMP22	1	1	Johan den Dunnen
00210578	-	PubMed: Tyson 1997	-	-	-	-	-	-	-	-	-	DejerineSottas	-	PMP22	PMP22	1	1	Johan den Dunnen
00210580	-	PubMed: Tyson 1997	-	-	-	-	-	-	-	-	-	DejerineSottas	-	PMP22	PMP22	1	1	Johan den Dunnen
00210582	-	PubMed: Brožková 2011	-	-	-	-	-	-	-	-	-	DejerineSottas	-	PMP22	PMP22	1	1	Johan den Dunnen
00210583	-	PubMed: Bort 1998	-	-	-	-	-	-	-	-	-	DejerineSottas	-	PMP22	PMP22	1	1	Johan den Dunnen
00210585	-	PubMed: Ikegami 1998	-	-	-	-	-	-	-	-	-	DejerineSottas	-	PMP22	PMP22	1	1	Johan den Dunnen
00210586	-	PubMed: Tyson 1997	-	-	-	-	-	-	-	-	-	DejerineSottas	-	PMP22	PMP22	1	1	Johan den Dunnen
00210587	-	PubMed: Gabreels-Festen 2002	-	-	-	-	-	-	-	-	-	DejerineSottas	-	PMP22	PMP22	1	1	Johan den Dunnen
00210588	-	PubMed: Silander 1998	-	-	-	-	-	-	-	-	-	DejerineSottas	-	PMP22	PMP22	1	1	Johan den Dunnen
00210594	-	PubMed: Bort 1997	-	-	-	-	-	-	-	-	-	DejerineSottas	-	PMP22	PMP22	1	1	Johan den Dunnen
00210595	-	PubMed: Marques 1998	-	-	-	-	-	-	-	-	-	DejerineSottas	-	PMP22	PMP22	1	1	Johan den Dunnen
00210610	-	PubMed: Valentijn 1995	-	-	-	-	-	-	-	-	-	DejerineSottas	-	PMP22	PMP22	1	1	Johan den Dunnen
00210617	-	PubMed: Ohnishi 2000	-	-	-	-	-	-	-	-	-	DejerineSottas	-	PMP22	PMP22	1	1	Johan den Dunnen
00210618	-	PubMed: Ikegami 1998	-	-	-	-	-	-	-	-	-	DejerineSottas	-	PMP22	PMP22	1	1	Johan den Dunnen
00210619	-	PubMed: Ionasescu 1997	-	-	-	-	-	-	-	-	-	DejerineSottas	-	PMP22	PMP22	1	1	Johan den Dunnen
00210621	-	PubMed: Parman 1999	-	-	-	-	-	-	-	-	-	DejerineSottas	-	PMP22	PMP22	1	1	Johan den Dunnen
00210624	-	PubMed: Nelis 1999	-	-	-	-	-	-	-	-	-	DejerineSottas	-	PMP22	PMP22	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

BSPH1 (binder of sperm protein homolog 1)