Disease #01972 (neuropathy (CCT5) (neuropathy, sensory, with spastic paraplegia, hereditary, autosomal recessive), OMIM:256840)

Official abbreviation	neuropathy (CCT5)
Name	neuropathy, sensory, with spastic paraplegia, hereditary, autosomal recessive
OMIM ID	256840
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	6
Phenotype entries for this disease	6
Associated with 1 gene	CCT5
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
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
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Andorra
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Angola
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Brazil
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Brunei Darussalam
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Bulgaria
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Burkina Faso
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Burundi
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Cambodia
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Cameroon
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Canada
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Cape Verde
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Cayman Islands
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Central African Republic
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Central Europe
Chad
(Chad)
Chile
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China
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Christmas Island
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Cocos (Keeling Islands)
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Colombia
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Comoros
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Congo
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Cook Islands
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Cote D'Ivoire (Ivory Coast)
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Croatia (Hrvatska)
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Cuba
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Cyprus
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Fiji
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France
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Gambia
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Georgia
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Germany
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Ghana
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Grenada
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Guam
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Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
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Guinea-Bissau
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Guyana
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Italy
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Japan
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Jordan
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Kenya
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Kiribati
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Korea
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Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
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Kuwait
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Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
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Latvia
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Lesotho
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Liberia
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Macedonia
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Madagascar
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Malawi
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Malaysia
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Maldives
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Mali
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Panama
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Paraguay
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Peru
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Pitcairn
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Poland
(Poland)
Polynesia, French
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Portugal
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Puerto Rico
(Puerto Rico)
Qatar
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Reunion
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Romania
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Russia
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Russian Federation
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Rwanda
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Saint Lucia
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Scotland
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Cunha
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Cunha)
St. Pierre and Miquelon
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Sudan
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Swaziland
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Sweden
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Switzerland
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Syria
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Taiwan
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Tajikistan
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Tanzania
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Thailand
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Togo
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Tokelau
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Tonga
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Trinidad and Tobago
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Tunisia
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Turkey
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Turkmenistan
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Turks and Caicos Islands
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Tuvalu
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Uganda
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Ukraine
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United Arab Emirates
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United Kingdom (Great Britain)
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United States
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Uruguay
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US Minor Outlying Islands
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Vanuatu
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Venezuela
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Viet Nam
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Virgin Islands (British)
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Virgin Islands (US)
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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
(Zambia)
Zimbabwe
(Zimbabwe)

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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\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
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Example	Matches
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6 entries on 1 page. Showing entries 1 - 6.

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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
00056404	-	-	MGZ 99441	F	?	Germany	german	-	-	-	-	neuropathy (CCT5)	progressive (painfull) demyelinisating polyneuropathy; starting at age 41y, (differentialdiagnosis: M. Fabry)	-	FAM13B	1	122	Andreas Laner
00095123	-	PubMed: Novarino 2014, Journal: Novarino 2014	4-generation family, 2 affecteds, 2 unaffected siblings, 2 unaffected heterozygous carrier parents (consanguineous), 1098-IV-3	M	-	-	-	-	-	added by student Merel van Kan	-	neuropathy (CCT5)	tiptoe walking (HP0030051)spasticity of lower limbs (HP0002061)no dysarthria (-HP0001260)spastic gait (HP0002064)no cerebellar signs (-HP0001317)absent achilles reflex (HP0003438)no plantar tendon reflex (-HP:0003487)no babinski sign (-HP0003487)abnormal gait (HP0001288)no amyotrophy (-HP0003202)no fasciculations (-HP0002380)vibration sense at ankles (HP0006938)no sensory loss (-HP0010835)no skeletal deformities (-HP0000924)no sphincter deformities (-HP0002839)normal brain MRI (-HP0002500)N/A spinal MRI (-HP0002143)flexion contractures of knees (HP0006380)	ERLIN1	ERLIN1	1	2	Johan den Dunnen
00095124	-	PubMed: Novarino 2014, Journal: Novarino 2014	brother of 1098-IV-3	M	-	-	-	-	-	added by student Merel van Kan	-	neuropathy (CCT5)	tiptoe walking (HP0030051)spasticity (HP0001257)no dysarthria (-HP0001260)spastic gait (HP0002064)no cerebellar signs (-HP0001317)increased deep tendon reflex in lower limbs (HP0002395)no babinski sign (-HP0003487)abnormal gait (HP0001288)no amyotrophy (-HP0003202)no fasciculations (-HP0002380)vibration sense at ankles (HP0006938)no sensory loss (-HP0010835)no skeletal deformities (-HP0000924)no sphincter deformities (-HP0002839)normal brain MRI (-HP0002500)N/A spinal MRI (-HP0002143)flexion contractures of knees (HP0006380)	ERLIN1	ERLIN1	1	1	Johan den Dunnen
00095132	-	PubMed: Novarino 2014, Journal: Novarino 2014	4-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carrier parents, patient 789IV-1	F	yes	-	-	-	-	added by student Anneliz de Leeuw	-	neuropathy (CCT5)	Spasticity (HP:0001257), Dysarthria (HP:0001260), Chorea (HP:0002072), Myoclonus (HP:0001336), Ataxia (HP:0001251), Increased deep tendon reflexes (HP:0001347), Unknown Hoffmann's sign (?HP:0003487), Plantar reflex (HP:0002487), Motor deficit (HP:0002333), No amyotrophy (-HP:0003202), No fasciculations (-HP:0002380), Normal vibration sense at ankles (-HP:0006938), No objective sensory loss (-HP:0010835), No skeletal deformities (-HP:0000924), No sphincter disturbances (-HP:0002839), White matter abnormalities (HP:0002500), No spinal abnormalities (-HP:0002143), Delayed intellectual development (HP:0001263), Hypodontia (HP:0000668), Ptosis (HP:0000508)	KIF1C	KIF1C	1	4	Johan den Dunnen
00095133	-	PubMed: Novarino 2014, Journal: Novarino 2014	brother of 789IV-1	M	yes	-	-	-	-	added by student Anneliz de Leeuw	-	neuropathy (CCT5)	Spasticity (HP:0001257), Dysarthria (HP:0001260), Chorea (HP:0002072), Myoclonus (HP:0001336), Ataxia (HP:0001251), Increased deep tendon reflexes (HP:0001347), Unknown Hoffmann's sign (?HP:0003487), Plantar reflex (HP:0002487), Motor deficit (HP:0002333), No amyotrophy (-HP:0003202), No fasciculations (-HP:0002380), Normal vibration sense at ankles (-HP:0006938), No objective sensory loss (-HP:0010835), No skeletal deformities (-HP:0000924), No sphincter disturbances (-HP:0002839), White matter abnormalities (HP:0002500), Unknown spinal abnormalities (?HP:0002143), Delayed intellectual development (HP:0001263), Hypodontia (HP:0000668)	KIF1C	KIF1C	1	1	Johan den Dunnen
00210053	VF	PubMed: Vadgama 2019, Journal: Vadgama 2019	-	F	no	United Kingdom (Great Britain)	-	-	-	-	-	neuropathy (CCT5)	-	-	ZFR2	2	1	Nirmal Vadgama

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Global Variome shared LOVD

KDM5C (lysine (K)-specific demethylase 5C)