Disease #02697 (Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive, OMIM:607706)

Official abbreviation	-
Name	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
OMIM ID	607706
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	4
Phenotype entries for this disease	3
Associated with 1 gene	GDAP1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +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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? (unknown)
- (not applicable)
Afghanistan
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Albania
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Algeria
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Bulgaria
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Cambodia
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Canada
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Central Europe
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Chile
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China
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Christmas Island
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Cunha
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Thailand
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Tunisia
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Turkey
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Tuvalu
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Uganda
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Ukraine
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Wales
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Wallis and Futuna Islands
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Western Sahara
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Yemen
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Yugoslavia
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Zaire
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Zambia
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Zimbabwe
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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.

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4 entries on 1 page. Showing entries 1 - 4.

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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
00100363	-	PubMed: Frazier-Bowers 2014	isolated case	M	-	(United States)	-	-	-	-	-	PFE, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive	-	PTH1R	PTH1R	2	1	Arrate Pereda
00103686	11743580-FamLF38	PubMed: Cuesta 2002	5-generation family, 9 affecteds (3F, 6M), unaffected heterozygous carrier parents	F;M	yes	Spain	-	-	-	-	-	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive	see paper; ..., autosomal recessive distal axonal neuropathy with hoarseness and vocal cord paresis	GDAP1	GDAP1	1	9	Johan den Dunnen
00103712	11743580-FamLF20	PubMed: Cuesta 2002	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	Spain	-	-	-	-	-	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive	see paper; ...	GDAP1	GDAP1	2	1	Johan den Dunnen
00103722	11743580-FamLF249	PubMed: Cuesta 2002	family, several affecteds, unaffected heterozygous carrier parents/relatives	-	no	Spain	-	-	-	-	-	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive	-	GDAP1	GDAP1	2	1	Johan den Dunnen

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Global Variome shared LOVD

GPR125 (G protein-coupled receptor 125)