NDDVD - Neurodegenerative Diseases Variation Database
LOVD v.3.0 Build 29 [
Current LOVD status
]
Register as submitter
|
Log in
View all genes
Create a new gene entry
View all transcripts
Create a new transcript information entry
View all variants
View all variants affecting transcripts
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
Create a new disease information entry
View available phenotype columns
View all screenings
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
All diseases
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Inheritance
: Values based on OMIM's and HPO's values for inheritance.
AD
: Autosomal dominant
PI
: Autosomal dominant with paternal imprinting
MI
: Autosomal dominant with maternal imprinting
AR
: Autosomal recessive
Di
: Digenic
DD
: Digenic dominant
DR
: Digenic recessive
IC
: Isolated Cases (Sporadic)
Mi
: Mitochondrial
Mu
: Multifactorial
SMo
: Somatic mosaicism
SMu
: Somatic mutation
OG
: Oligogenic (3 genes)
PG
: Polygenic (>3 genes)
XL
: X-linked
XLD
: X-linked dominant
XLR
: X-linked recessive
YL
: Y-linked
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
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
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
49 entries on 1 page. Showing entries 1 - 49.
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
00002
AD
Alzheimer Disease
104300
-
634
-
ABCA7, AGBL3, APOE, APP, ATP8B3, C16orf96, C3orf20, CASS4, CD2AP, CD33, CELF1, CENPJ, CFAP70, CHGB, CHMP2B, CLU, CR1, CST3, CTSF, EBLN1, 49 more
-
-
00003
ALS
Amyotrophic Lateral Sclerosis
105400
-
1029
508
ALS2, ANG, ANXA11, APEX1, ARHGEF28, C9orf72, CCNF, CHCHD10, CHGB, CHMP2B, CYLD, DCTN1, DNAJC7, DPYSL3, ERLIN1, FUS, GLE1, GRN, HFE, HNRNPA1, 34 more
-
-
00001
ALXDRD
Alexander Disease
203450
-
142
41
GFAP
-
-
00004
CD
Canavan Disease
271900
-
80
-
ASPA
-
-
00006
CJD
Creutzfeldt-Jakob disease
123400
-
69
-
PRNP, SPRN
-
-
00005
CS
Cockayne Syndrome
216400
-
123
-
ERCC5, ERCC6, ERCC8
-
-
00019
DLB
Lewy Body Dementia
127750
-
33
-
CYP2D6, DNAJC13, GBA, LRRK2, PRNP, PSEN1, PSEN2, SNCA, SNCB
-
-
00023
DM
Myotonic Dystrophy
160900
-
-
-
-
-
-
00007
DMD
Dystonia Musculorum Deformans
128100
-
173
-
ADCY5, ATM, ATP1A3, GCH1, GNAL, PNKD, PRKRA, SGCE, SLC2A1, THAP1, TOR1A
-
-
00049
DNTC
Diffuse Neurofibrillary Tangles with Calcification
-
-
-
-
-
-
-
00008
FAN
Familial Amyloid Neuropathy
-
-
147
-
APOA1, GSN, TTR
-
-
00009
FFI
Fatal Familial Insomnia
600072
-
8
-
PRNP
-
-
00010
FTLD
Frontotemporal Lobar Degeneration
607485
-
355
3
CCNF, CHCHD10, CHMP2B, CYLD, FUS, GFAP, GRN, GSK3B, LRRK2, MAPT, NEK1, NOTCH3, OPTN, PRNP, PSEN1, SOD1, SQSTM1, TARDBP, TBK1, TREM2, UBQLN2, VCP
-
-
00011
GSS
Gerstmann-Straussler-Scheinker Disease
137440
-
37
-
PRNP
-
-
00015
HD
Huntington Disease
143100
-
-
-
-
-
-
00050
Healthy/Control
Healthy individual / control
-
-
-
-
-
-
-
00014
HMSN
Hereditary Sensory and Motor Neuropathy
-
-
245
-
DCAF8, DYNC1H1, EGR2, FGD4, FIG4, GDAP1, GJB1, HSPB2, HSPB8, KIF1B, LITAF, LMNA, MFN2, MPZ, MTMR2, NDRG1, NEFL, PEX7, PHYH, PMP22, 6 more
-
-
00013
HSAN
Hereditary Sensory and Autonomic Neuropathy
201300
-
88
-
FAM134B, IKBKAP, NGF, NTRK1, PRNP, RAB7A, SPTLC1, SPTLC2, WNK1
-
-
00016
KURU
Kuru
245300
-
1
-
PRNP
-
-
00017
LD
Lafora Disease
254780
-
117
-
EPM2A, NHLRC1
-
-
00042
LE
Limbic Encephalitis
-
-
-
-
-
-
-
00041
LEMS
Lambert-Eaton Myasthenic Syndrome
-
-
2
-
SYT2
-
-
00018
LNS
Lesch-Nyhan Syndrome
300322
-
173
-
HPRT1
-
-
00022
MC
Myotonia Congenita
160800
-
114
-
CLCN1, SCN4A
-
-
00020
MK
Menkes Kinky Hair Syndrome
309400
-
163
-
ATP7A
-
-
00021
MSA
Multiple System Atrophy
146500
-
26
-
COQ2, POLG
-
-
00043
MT
Myelitis, Transverse
-
-
-
-
-
-
-
00025
NCL
Neuronal Ceroid-Lipofuscinoses
256370
-
392
-
CLCN6, CLN3, CLN5, CLN6, CLN8, CTSD, MFSD8, POLG, PPT1, SGSH, TPP1
-
-
00024
NF2
Neurofibromatosis type II
101000
-
107
-
NF2
-
-
00044
OMS
Opsoclonus-Myoclonus Syndrome
-
-
-
-
-
-
-
00027
OPA
Optic Atrophy
165500
-
296
-
AFG3L2, MFN2, OPA1, OPA3, SLC25A46
-
-
00026
OPCA
Olivopontocerebellar Atrophies
164700
-
-
-
-
-
-
00031
PBP
Progressive Bulbar Palsy
-
-
3
-
SOD1, TTR
-
-
00045
PCD
Paraneoplastic Cerebellar Degeneration
-
-
-
-
-
-
-
00029
PD
Parkinson Disease
168600
-
558
1
ADORA1, DNAJC13, FBXO7, LRRK2, MAPT, PARK2, PARK7, PINK1, PODXL, PRNP, PTRHD1, RIC3, SNCA, SYNJ1, VPS35
-
-
00028
PKAN
Pantothenate Kinase-Associated Neurodegeneration
234200
-
132
-
PANK2, RAB39B
-
-
00030
PMD
Pelizaeus–Merzbacher Disease
312080
-
96
-
PLP1
-
-
00046
PP
Paraneoplastic Polyneuropathy
-
-
-
-
-
-
-
00047
PPS
Postpoliomyelitis Syndrome
-
-
-
-
-
-
-
00032
PSP
Progressive Supranuclear Palsy
601104
-
16
-
DCTN1, MAPT, PARK2
-
-
00033
RTT
Rett Syndrome
312750
-
385
-
CDKL5, FOXG1, MECP2
-
-
00036
SCA
Spinocerebellar Degenerations
164400
-
53
-
AFG3L2, C10orf2, CACNA1A, CACNA1G, ELOVL4, ELOVL5, ITPR1, KCNC3, KCND3, SPTBN2, TGM6, TMEM240, TTBK2
-
-
00048
SCD
Subacute Combined Degeneration
-
-
-
-
-
-
-
00034
SMA
Spinal Muscular Atrophy
253300
-
90
-
HEXA, IGHMBP2, LMNA, SMN1, VAPB
-
-
00037
TS
Tourette Syndrome
-
-
6
-
HDC, SLITRK1
-
-
00040
TSC
Tuberous Sclerosis
191100
-
383
-
TSC1, TSC2
-
-
00038
ULD
Unverricht-Lundborg Syndrome
254800
-
19
-
CSTB, PRICKLE1, SCARB2
-
-
00012
WD
Hepatolenticular Degeneration
277900
-
164
-
ATP7B
-
-
00039
XBSN
X-Linked Bulbo-Spinal Atrophy
313200
-
-
-
-
-
-
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
Powered by
LOVD v.3.0
Build 29
LOVD software ©2004-2023
Leiden University Medical Center