Iran Variome MPS Database
LOVD v.3.0 Build 27 [
Current LOVD status
]
Log in
View all genes
View all transcripts
View all variants
View all variants affecting transcripts
View all individuals
View all diseases
View all screenings
Submit new data
All individuals
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.
Reference
: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.
Gender
: The gender of the reported individual.
All options:
? = Unknown
F = Female
M = Male
rF = Raised as female
rM = Raised as male
Geographic origin
: The geographic origin of the individual (country and/or region); Belgium = individual's origin is Belgium, (France) = reported by laboratory in France, individual's origin not sure.
Consanguinity
: Indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
? = Unknown
no = Non-consanguineous parents
yes = Consanguineous parents
Remarks
: Remarks about the individual.
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
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.
264 entries on 3 pages. Showing entries 1 - 100.
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
« First
Prev
1
2
3
Next
Last »
Individual ID
Reference
Gender
Geographic origin
Consanguinity
Remarks
Disease
Phenotype details
Genes screened
Variants in genes
Variants
Panel size
Owner
00000002
-
F
Iran
yes
Female, diagnosed as having MPS 1H at age 14 month. Molecular diagnosis at age 7 years old. Using NGS panel for metabolic disorders.
MPS I
-
IDUA
IDUA
1
1
Variome.ir
00000003
-
M
Iran
yes
-
MPS VI
-
ARSB
ARSB
1
1
Variome.ir
00000004
-
F
Iran
yes
-
MPS VI
-
ARSB
ARSB
1
1
Variome.ir
00000005
-
M
Iran
yes
-
MPS VI
-
ARSB
ARSB
1
1
Variome.ir
00000006
-
M
Iran
-
-
MPS II
-
IDS
IDS
1
1
Variome.ir
00000007
-
M
Iran
yes
-
MPS VI
-
ARSB
ARSB
1
1
Variome.ir
00000008
-
F
Iran
-
-
MPS VI
-
ARSB
ARSB
1
1
Variome.ir
00000009
-
F
Iran
-
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
00000010
-
F
Iran
yes
-
MPS IVB
-
GLB1
GLB1
1
1
Variome.ir
00000011
-
M
-
-
-
MPS VI
-
ARSB
ARSB
1
1
Variome.ir
00000012
-
M
Iran
-
-
MPS VI
-
ARSB
ARSB
1
1
Variome.ir
00000013
-
F
Iran
yes
-
MPS IIIB
-
NAGLU
NAGLU
1
1
Variome.ir
00000014
-
M
Iran
yes
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
00000015
-
M
Iran
yes
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
00000016
-
M
Iran
-
-
MPS II
-
IDS
IDS
1
1
Variome.ir
00000017
-
M
Afghanistan
yes
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
00000018
-
F
Iran
yes
-
MPS I
-
IDUA
IDUA
1
1
Variome.ir
00000019
-
M
Iran
yes
-
MPS VI
-
ARSB
ARSB
1
1
Variome.ir
00000020
-
M
Iran
yes
-
MPS IIIB
-
NAGLU
NAGLU
1
1
Variome.ir
00000021
-
M
Iran
yes
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
00000022
-
M
Iran
yes
-
MPS VI
-
ARSB
ARSB
1
1
Variome.ir
00000023
-
M
Iran
yes
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
00000024
-
M
Iran
yes
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
00000025
-
F
Iran
yes
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
00000026
-
F
Iran
yes
-
MPS I
-
IDUA
IDUA
1
1
Variome.ir
00000027
-
M
Iran
yes
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
00000029
-
M
Iran
no
-
MPS II
-
IDS
IDS
1
1
Variome.ir
00000030
-
M
Iran
yes
-
MPS IIIA
-
SGSH
SGSH
1
1
Variome.ir
00000031
-
M
Iran
yes
-
MPS I
-
IDUA
IDUA
1
1
Variome.ir
00000032
-
M
Iran
no
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
00000033
-
F
Iran
yes
-
MPS I
-
IDUA
IDUA
1
1
Variome.ir
00000034
-
F
Iran
yes
-
MPS VI
-
ARSB
ARSB
1
1
Variome.ir
00000035
-
F
Iran
yes
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
00000036
-
F
Iran
yes
-
MPS I
-
IDUA
IDUA
1
1
Variome.ir
00000037
-
F
Iran
yes
-
MPS VI
-
ARSB
ARSB
1
1
Variome.ir
00000038
-
M
Iran
yes
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
00000039
-
F
Iran
no
-
MPS IVA
-
GALNS
GALNS
2
1
Variome.ir
00000040
-
F
Iran
yes
-
MPS VI
-
ARSB
ARSB
1
1
Variome.ir
00000041
-
M
Iran
-
-
MPS II
-
IDS
IDS
1
1
Variome.ir
00000042
-
F
Iran
yes
-
MPS I
-
IDUA
IDUA
1
1
Variome.ir
00000043
-
M
Iran
yes
-
MPS I
-
IDUA
IDUA
1
1
Variome.ir
00000044
-
M
Iran
yes
-
MPS IVA
-
GALNS
GALNS
2
1
Variome.ir
00000045
-
F
Iran
no
-
MPS I
-
IDUA
IDUA
1
1
Variome.ir
00000046
-
F
Iran
yes
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
00000047
-
M
Iran
yes
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
00000048
-
F
Iran
-
-
MPS I
-
IDUA
IDUA
1
1
Variome.ir
00000049
-
F
Iran
yes
-
MPS VI
-
ARSB
ARSB
1
1
Variome.ir
00000050
-
M
Iran
yes
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
00000051
-
M
Iran
yes
-
MPS I
-
IDUA
IDUA
1
1
Variome.ir
00000052
-
F
Iran
-
-
MPS VI
-
ARSB
ARSB
1
1
Variome.ir
00000053
-
M
Iran
-
-
MPS IVA
-
GALNS
GALNS
2
1
Variome.ir
00000054
-
F
Iran
yes
-
MPS VI
-
ARSB
ARSB
1
1
Variome.ir
00000055
-
M
Iran
no
-
MPS II
-
IDS
IDS
1
1
Variome.ir
00000056
-
M
Iran
no
-
MPS IIIB
-
NAGLU
NAGLU
1
1
Variome.ir
00000057
-
M
Iran
yes
-
HP3, MPS IVA
-
GALNS, HOGA1
GALNS, HOGA1
2
1
Variome.ir
00000058
-
M
Iran
yes
-
MPS VI
-
ARSB
ARSB
1
1
Variome.ir
00000059
-
M
Iran
yes
-
MPS I
-
IDUA
IDUA
1
1
Variome.ir
00000060
-
F
Iran
yes
-
MPS I
-
IDUA
IDUA
1
1
Variome.ir
00000061
-
F
Iran
yes
-
MPS VI
-
ARSB
ARSB
1
1
Variome.ir
00000062
-
M
Iran
no
-
MPS II
-
IDS
IDS
1
1
Variome.ir
00000063
-
M
Iran
no
-
MPS I
-
IDUA
IDUA
1
1
Variome.ir
00000064
-
M
Iran
yes
-
Sialidosis
-
NEU1
NEU1
1
1
Variome.ir
00000065
-
M
Iran
-
-
MPS I
-
IDUA
IDUA
2
1
Variome.ir
00000066
-
M
Iran
yes
-
MPS IIIC
-
HGSNAT
HGSNAT
1
1
Variome.ir
00000067
-
M
Iran
yes
-
MPS VI
-
ARSB
ARSB
1
1
Variome.ir
00000068
-
M
Iran
yes
-
MPS I
-
IDUA
IDUA
1
1
Variome.ir
00000069
-
F
Iran
yes
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
00000070
-
M
Iran
yes
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
00000071
-
M
Iran
yes
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
00000072
-
M
Iran
yes
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
00000073
-
M
Iran
-
-
MPS VI
-
ARSB
ARSB
1
1
Variome.ir
00000074
-
M
Iran
no
-
MPS II
-
IDS
IDS
1
1
Variome.ir
00000075
-
M
Afghanistan
?
-
MPS VI
-
GALNS
GALNS
1
1
Variome.ir
00000076
-
M
Iran
yes
-
MPS IIIA
-
SGSH
SGSH
1
1
Variome.ir
00000077
-
F
Iran
yes
-
MPS IIIC
-
HGSNAT
HGSNAT
1
1
Variome.ir
00000078
-
M
Iran
yes
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
00000079
-
F
Iran
yes
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
00000080
-
F
Iran
yes
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
00000081
-
F
Iran
yes
-
ML III Gamma
-
GNPTG
GNPTG
1
1
Variome.ir
00000082
-
M
Iran
yes
-
MPS VI
-
ARSB
ARSB
1
1
Variome.ir
00000083
-
F
Iran
yes
-
MPS VI
-
ARSB
ARSB
1
1
Variome.ir
00000084
-
M
Iran
yes
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
00000085
-
M
Iran
yes
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
00000086
-
F
Iran
yes
-
MPS I
-
IDUA
IDUA
1
1
Variome.ir
00000087
-
F
Iran
yes
-
MPS I
-
IDUA
IDUA
1
1
Variome.ir
00000088
-
M
Afghanistan
yes
-
MPS VI
-
ARSB
ARSB
1
1
Variome.ir
00000089
-
M
Iran
yes
-
MPS I
-
IDUA
IDUA
2
1
Variome.ir
00000090
-
F
Iran
yes
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
00000091
-
M
Iran
yes
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
00000092
-
M
Afghanistan
yes
-
ML III
-
GNPTAB
GNPTAB
1
1
Variome.ir
00000093
-
M
Iran
-
-
MPS VI
-
ARSB
ARSB
1
1
Variome.ir
00000094
-
F
Iran
-
-
MPS IIIB
-
NAGLU
NAGLU
1
1
Variome.ir
00000095
-
M
Iran
-
-
MPS II
-
IDS
IDS
1
1
Variome.ir
00000096
-
F
Iran
yes
-
MPS I
-
IDUA
IDUA
1
1
Variome.ir
00000097
-
M
Iran
yes
-
MPS IIIA
-
SGSH
SGSH
1
1
Variome.ir
00000098
-
M
Iran
no
-
MPS VI
-
ARSB
ARSB
2
1
Variome.ir
00000099
-
M
Iran
yes
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
00000100
-
F
Iran
yes
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
00000101
-
M
Iran
-
-
MPS I
-
IDUA
IDUA
1
1
Variome.ir
00000102
-
F
Iran
yes
-
MPS IVA
-
GALNS
GALNS
1
1
Variome.ir
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
« First
Prev
1
2
3
Next
Last »
Powered by
LOVD v.3.0
Build 27
LOVD software ©2004-2021
Leiden University Medical Center