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Phenotypes for disease #00018 (HSD10MD (HSD10 Mi disease), OMIM:300438)
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.
Diagnosis/Initial
: initial diagnosis, before molecular testing
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
Diagnosis/Definite
: phenotype individual after molecular testing (OMIM abbreviation)
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
Phenotype details
: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
Enzyme/Activity
: enzyme activity: please specify sample analysed (e.g. leukocytes, fibroblasts), remaining activity (0.13 = 13%), etc.
Protein
: result from protein staining
Age/Diagnosis
: age diagnosis was confirmed
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
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
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|
Text
Arg|Ser
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!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
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Text
="p.0"
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!=""
Text
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combination
Text
*|Ter !fs
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Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
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all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
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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.
23 entries on 1 page. Showing entries 1 - 23.
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Legend
How to query
Phenotype ID
Diagnosis/Initial
Inheritance
Age/Examination
Diagnosis/Definite
Age/Onset
Phenotype/Onset
Phenotype details
Enzyme/Activity
Protein
Age/Diagnosis
Owner
Individual ID
0000000837
-
Isolated (sporadic)
-
-
01y02m
-
ascertainment clinical presentation; developmental regression, dystonia, blindness, epilepsy
-
-
07y
Division of Human Genetics, Innsbruck
00001683
0000000838
-
Isolated (sporadic)
-
-
-
-
ascertainment clinical presentation; psychomotor retardation
-
-
07y
Division of Human Genetics, Innsbruck
00001684
0000000839
-
Familial
-
-
-
-
-
-
-
-
Division of Human Genetics, Innsbruck
00001685
0000000840
-
Unknown
-
-
-
-
ascertainment clinical presentation; severe hypotonia, no development, cardiomyopathy; phenotype onset neonatal; biochemical phenotype typical for disease
30% residual MHBD activity
-
-
Division of Human Genetics, Innsbruck
00001686
0000000841
-
Familial
-
-
01y07m
-
ascertainment clinical presentation; developemtnal delay, plagiocephaly, fontal bosssing, short nose, dysplastic ears. 5th finger and toe clinodactyly, moderate syndactyly of 2nd, 3rd 4th fingers
-
-
01y07m
Division of Human Genetics, Innsbruck
00001687
0000000842
-
Familial
-
-
-
-
-
-
-
-
Division of Human Genetics, Innsbruck
00001688
0000000843
-
Isolated (sporadic)
-
-
-
-
-
-
-
-
Division of Human Genetics, Innsbruck
00001689
0000000844
-
Unknown
-
-
-
-
-
-
-
-
Division of Human Genetics, Innsbruck
00001690
0000000845
-
Familial
-
-
-
-
ascertainment clinical presentation; developmental regression, ataxia, myoclonus, nystagmus, optic atrophy, retinopathy; biochemical phenotype typical for disease
MHBD activity 0.5 (Mean 1.4, SD 0.43)
-
01y02m
Division of Human Genetics, Innsbruck
00001691
0000000846
-
Familial
-
-
-
-
ascertainment clinical presentation; psychomotor retardation, speech delay, hearing loss; phenotype onset first months of life; biochemical phenotype typical for disease
-
-
-
Division of Human Genetics, Innsbruck
00001692
0000000847
-
Familial
-
-
-
-
ascertainment clinical presentation; neonatal presentation
-
-
-
Division of Human Genetics, Innsbruck
00001693
0000000848
-
Familial
-
-
-
-
ascertainment clinical presentation; neonatal presentation
-
-
-
Division of Human Genetics, Innsbruck
00001694
0000000849
-
Isolated (sporadic)
-
-
-
-
ascertainment clinical presentation
-
-
-
Division of Human Genetics, Innsbruck
00001695
0000000850
-
Familial
-
-
00y03m
-
ascertainment clinical presentation
-
-
-
Division of Human Genetics, Innsbruck
00001696
0000000851
-
Familial
-
-
00y06m
-
ascertainment clinical presentation; severe neurological impairment at 20 months
-
-
-
Division of Human Genetics, Innsbruck
00001697
0000000854
-
Isolated (sporadic)
-
-
-
-
ascertainment clinical presentation
-
-
-
Division of Human Genetics, Innsbruck
00001700
0000000855
-
Familial
-
-
-
-
ascertainment clinical presentation
-
-
-
Division of Human Genetics, Innsbruck
00001701
0000000856
-
Unknown
-
-
-
-
-
-
-
-
Division of Human Genetics, Innsbruck
00001702
0000000857
-
Familial
-
-
-
-
-
-
-
-
Division of Human Genetics, Innsbruck
00001703
0000000858
-
Unknown
-
-
02y06m
-
ascertainment clinical presentation; developmental regression, Hyperkinetic involuntary movement disorder, EEG showed diffuse background slowing and multifocal spike or polyspike activity
-
-
-
Division of Human Genetics, Innsbruck
00001704
0000175601
-
Familial, X-linked
-
HSD10D
00y06m
progressive spastic quadriplegia (HP:0002478), motor delay (HP:0001270)
elevation of 2-methyl-3-hydroxybutyrate (94; normal <18 mmol/mol creatinine) and tiglylglycine (74; normal <5 mmol/mol creatinine)
-
-
06y
Sebastien Levesque
00235339
0000230171
-
Familial, X-linked recessive
-
HSD10D
00y19m
transient episode of dystonia/ataxia
19m-transient episode of dystonia/ataxia, MRI brain normal, no cardiac abnormalities, no ophthalmological abnormalities; over time dystonic episodes gradually diminished in frequency and duration
-
-
-
Johan den Dunnen
00303087
0000230173
-
Familial, X-linked recessive
-
HSD10D
-
-
suspected possible episodes of absence epilepsy, observed elevations liver transaminases, history of neonatal death sister and mother's new pregnancy; epilepsy not confirmed, cytomegalovirus infection explained transient hepatic abnormalities; 18m-asymptomatic, normal development
-
-
-
Johan den Dunnen
00303089
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