Global Variome shared LOVD
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
Phenotypes for disease #01170 (AHC1 (hemiplegia, alternating, of childhood, type 1 (AHC1)), OMIM:104290)
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.
Phenotype details
: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
Diagnosis/Initial
: initial diagnosis, before molecular testing
Diagnosis/Definite
: phenotype individual after molecular testing (OMIM abbreviation)
Inheritance
: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:
Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable
Age/Examination
: age at which the individual was examined.
35y = 35 years
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
Age/Diagnosis
: age diagnosis was confirmed
Age/Onset
: Age first symptoms disease appeared in individual:
35y = 35 years
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
Phenotype/Onset
: individual's phenotype at Age/Onset described using HPO
Protein
: result from protein staining
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.
24 entries on 1 page. Showing entries 1 - 24.
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
Phenotype ID
Phenotype details
Diagnosis/Initial
Diagnosis/Definite
Inheritance
Age/Examination
Age/Diagnosis
Age/Onset
Phenotype/Onset
Protein
Owner
Individual ID
0000128134
The patient had the first hemiplegia at 3 months of age. He had abnormal eye movement, dystonia, quadrplegia and seizure. The hemiplegia duration ranges from several hours to six days. On average he has four hemiplegia per month.
AHC-1
AHC-1
Familial
15y
15y
00y03m
-
-
Xiaoxu Yang
00155754
0000128135
The patient had the first symptom on set at the age of 5.5m, his first hemiplegia starts at the age of 8m, the duration rangers from 1 to 2 days, he has abnormal eye movemetn and dystonia.
AHC-1
AHC-1
Familial, autosomal dominant
04y
04y
00y05m
-
-
Xiaoxu Yang
00155755
0000129966
Abnormal eye movement, dystonia, automatic dysfunction, development delay.
AHC
AHC
Familial, autosomal dominant
00y08m
00y08m
00y06m
Abnormal eye movement
-
Xiaoxu Yang
00155756
0000129967
Abnormal eye movement, quadriplegia, dystonia, ataxia, epilepsy, and developmental delay
AHC
AHC
Familial, autosomal dominant
03y
03y
01y
Abnormal eye movement
-
Xiaoxu Yang
00155757
0000129968
Abnormal eye movement, quadriplegia, respiritary disturbance, and developmental delay
AHC
AHC
Familial, autosomal dominant
03y
03y
00y03m
Abnormal eye movement
-
Xiaoxu Yang
00155758
0000129969
Abnormal eye movement, quadriplegia, dystonia, epilepsy, dysarthria, and developmental delay
AHC
AHC
Familial, autosomal dominant
03y
03y
00y04m
Abnormal eye movement
-
Xiaoxu Yang
00155759
0000129970
Abnormal eye movement, quadriplegia, dystonia, automatic dysfunction, dysphagia, dysarthria, and slight developmental delay.
AHC
AHC
Familial, autosomal dominant
03y
03y
00y03m
Abnormal eye movement
-
Xiaoxu Yang
00155760
0000129971
Dystonia, hemiplegia
AHC
AHC
Familial, autosomal dominant
03y
03y
00y03m
dystonia
-
Xiaoxu Yang
00155761
0000129972
Abnormal eye movement, dystonia, slight developmental delay
AHC
AHC
Familial, autosomal dominant
03y
03y
00y05m
Abnormal eye movement
-
Xiaoxu Yang
00155762
0000129973
Abnormal eye movement, dystonia, automatic dysfunction, and slight developmental delay
AHC
AHC
Familial, autosomal dominant
02y
02y
00y05m
Abnormal eye movement
-
Xiaoxu Yang
00163007
0000129974
Dystonia, Abnormal eye movement, quadriplegia, automatic dysfunction, dysphagia, dysarthria, and developmental delay
AHC
AHC
Familial, autosomal dominant
08y
08y
00y03m
dystonia
-
Xiaoxu Yang
00163008
0000129975
Dystonia, Abnormal eye movement, and slight developmental delay
AHC
AHC
Familial, autosomal dominant
02y
02y
00y02m
dystonia
-
Xiaoxu Yang
00163009
0000129976
dystonia, Abnormal eye movement, automatic dysfunction, dysphagia, dysarthria, and developmental delay.
AHC
AHC
Familial, autosomal dominant
03y
03y
00y01m
dystonia
-
Xiaoxu Yang
00163010
0000129977
Abnormal eye movement, Dystonia, quadriplegia, automatic dysfunction, dysphagia, dysarthria, ataxia, and developmental delay.
AHC
AHC
Familial, autosomal dominant
04y
04y
00y01m
Abnormal eye movement
-
Xiaoxu Yang
00163011
0000129978
Abnormal eye movement, dystonia, epilepsy, and developmental delay.
AHC
AHC
Familial, autosomal dominant
02y
02y
00y02m
Abnormal eye movement
-
Xiaoxu Yang
00163012
0000129979
Dystonia, Abnormal eye movement, quadriplegia, and slight developmental delay
AHC
AHC
Familial, autosomal dominant
01y
01y
00y02m
dystonia
-
Xiaoxu Yang
00163013
0000129980
Dystonia, Abnormal eye movement, quadriplegia, and slight developmental delay
AHC
AHC
Familial, autosomal dominant
03y
03y
00y00m
dystonia
-
Xiaoxu Yang
00163014
0000129981
Dystonia, Abnormal eye movement, automatic dysfunction, dysphagia, respiritary disturbance, and slight developmental delay
AHC
AHC
Familial, autosomal dominant
01y
01y
00y01m
dystonia
-
Xiaoxu Yang
00163015
0000129983
Dystonia, Abnormal eye movement, automatic dysfunction, dysphagia, dysarthria, and slight developmental delay
AHC
AHC
Familial, autosomal dominant
02y
02y
00y02m
dystonia
-
Xiaoxu Yang
00163017
0000129984
Abnormal eye movement, quadrplegia, epilepsy, and slight developmental delay.
AHC
AHC
Familial, autosomal dominant
01y
01y
00y01m
Abnormal eye movement
-
Xiaoxu Yang
00163018
0000129986
Dystonia, Abnormal eye movement, respiritary disturbance, and slight developmental delay.
AHC
AHC
Familial, autosomal dominant
01y
01y
00y03m
Dystonia
-
Xiaoxu Yang
00163020
0000129987
Epilepsy, Abnormal eye movement, Dystonia, automatic dysfunction, and slight developmental delay.
AHC
AHC
Familial, autosomal dominant
02y
02y
00y01m
seizure
-
Xiaoxu Yang
00163021
0000129988
Abnormal eye movement, quadriplegia, Dystonia, Dysphagia, Dysarthria, and slight developmental delay.
AHC
AHC
Familial, autosomal dominant
07y
07y
00y01m
Abnormal eye movement
-
Xiaoxu Yang
00163022
0000129989
Dystonia, quadriplegia, and slight developmental delay.
AHC
AHC
Familial, autosomal dominant
03y
03y
00y08m
Dystonia
-
Xiaoxu Yang
00163023
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