Global Variome shared LOVD
SNORD116-3 (small nucleolar RNA, C/D box 116-3)
LOVD v.3.0 Build 30b [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Global Variome, with Curator vacancy
View all genes
View SNORD116-3 gene homepage
View graphs about the SNORD116-3 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene SNORD116-3
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene SNORD116-3
View all variants in gene SNORD116-3
Full data view for gene SNORD116-3
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene SNORD116-3
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene SNORD116-3
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene SNORD116-3
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Phenotypes for disease #01664 (GACI1 (calcification, arterial, generalized, infancy, type 1 (GACI-1)), OMIM:208000)
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
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/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.
48 entries on 1 page. Showing entries 1 - 48.
10 per page
25 per page
50 per page
100 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
0000058794
calcification aorta, diverse arteries, pulmonary arteries, renal arteries; no periarticular calcifications; pericardial effusion; polyhydramnios, anasarque; bisphosphonates etidronate and pamidronate
-
-
Familial, autosomal recessive
18d
-
-
-
-
Yvonne Nitschke
00079035
0000058795
calcification aorta, diverse arteries; no periarticular calcifications; pericardial effusion, RV hypertrophy; hydrops fetalis, oligurie, pleural effusion; no bisphosphonates
-
-
Familial, autosomal recessive
1d
-
-
-
-
Yvonne Nitschke
00079036
0000058796
calcification aorta, diverse arteries, renal arteries; no periarticular calcifications; cardiomegaly, hypertension; hydrops fetalis, anemia, anuric, ascitis; bisphosphonates pamidronate
-
-
Familial, autosomal recessive
10d
-
-
-
-
Yvonne Nitschke
00079037
0000058797
calcification aorta, diverse arteries; no bisphosphonates
-
-
Familial, autosomal recessive
1d
-
-
-
-
Yvonne Nitschke
00079038
0000058798
stillbirth; calcification aorta, diverse arteries; no periarticular calcifications; cardiomegaly; polyhydramnios, anasarque; no bisphosphonates
-
-
Familial, autosomal recessive
0d
-
-
-
-
Yvonne Nitschke
00079039
0000058799
calcification aorta; heart failure; hydrops fetalis; no bisphosphonates
-
-
Familial, autosomal recessive
2m
-
-
-
-
Yvonne Nitschke
00079040
0000058800
stillbirth; calcification aorta, coronary arteries, renal arteries, heart valves; no periarticular calcifications; biventricular dysfunction, pericardial effusion; polyhydramnios; no bisphosphonates
-
-
Familial, autosomal recessive
-
-
-
-
-
Yvonne Nitschke
00079041
0000058801
died after 15 min.; calcification aorta, coronary arteries, pulmonary arteries; pericardial effusion; hydrops fetalis; no bisphosphonates
-
-
Familial, autosomal recessive
-
-
-
-
-
Yvonne Nitschke
00079042
0000058802
calcification diverse arteries; dilated ivc, poor biventricular systolic function, dilated RA and RV, small PFO, small pda with left to right shunt, hypotension,; hydrops fetalis, liver dysfunction, ascites, retinal haemorrhage
-
-
Familial, autosomal recessive
-
-
-
-
-
Yvonne Nitschke
00079043
0000058803
died after 1h; calcification diverse arteries, pulmonary arteries; no periarticular calcifications; no bisphosphonates
-
-
Familial, autosomal recessive
-
-
-
-
-
Yvonne Nitschke
00079044
0000058804
calcification aorta, diverse arteries, coronary arteries, renal arteries, heart valves; no periarticular calcifications; cardiomegaly, hypertension; bisphosphonates etidronate; resolution of calcifications
-
-
Familial, autosomal recessive
-
-
-
-
-
Yvonne Nitschke
00079045
0000058805
calcification aorta, diverse arteries, coronary arteries, pulmonary arteries;
-
-
Familial, autosomal recessive
-
-
-
-
-
Yvonne Nitschke
00079046
0000058806
calcification aorta, pulmonary arteries; calcification of pericardium; hypophosphatemic rickets, effused c2-c3 vertebrae, calcification of renal capsule, knee deformity; no bisphosphonates; spontaneous resolution of calcifications;
-
-
Familial, autosomal recessive
16y
-
-
-
-
Yvonne Nitschke
00079047
0000058807
calcification aorta, coronary arteries, renal arteries; no periarticular calcifications; poor LV function, biventricular hypertrophy, hypertension, hypertrophic cardiomyopathy, mild pulmonary hypertension, dilated ascending aorta; renal failure with complete occlusion of renal arteries, hepatomegaly, narrowing of neck and renal vessels; no bisphosphonates; no hypophosphatemia
-
-
Familial, autosomal recessive
-
-
-
-
-
Yvonne Nitschke
00079048
0000058808
calcification aorta, coronary arteries, renal arteries, heart valves; no periarticular calcifications; ventricular dysfunction, dilated cardiomyopathy, hypertrophe cardiomyopathy, hypertensionrenal artery stenoses; bisphosphonates etidronate; no hypophosphatemia
-
-
Familial, autosomal recessive
-
-
-
-
-
Yvonne Nitschke
00079049
0000058809
calcification diverse arteries, coronary arteries, pulmonary arteries; no periarticular calcifications; cardiomegaly, pericardial effusion; pleural effusion, ascites
-
-
Familial, autosomal recessive
-
-
-
-
-
Yvonne Nitschke
00079050
0000058810
calcification aorta, pulmonary arteries, heart valves; periarticular calcifications shoulders, hip, knee; pericardial effusion, LV hypertrophy, dilated RV, hypertension,; polyhydramnios, fetal hydrops, nephrocalcinosis, cerebral atrophy, ascites, abdominal aorta narrowed under diaphragm, spastic tetraparesis with dystonic component; no bisphosphonates; spontaneous resolution of calcifications
-
-
Familial, autosomal recessive
6y
-
-
-
-
Yvonne Nitschke
00079051
0000058811
calcification aorta, heart valves; no periarticular calcifications; hypertension; generalized articular pain, knee valgism, hypophosphatemic rickets; spontaneous resolution of calcifications
-
-
Familial, autosomal recessive
14y6m
-
-
-
-
Yvonne Nitschke
00079052
0000058812
calcification coronary arteries, renal arteries; no periarticular calcifications; hepatic haemangioma; no hypophosphatemia
-
-
Familial, autosomal recessive
-
-
-
-
-
Yvonne Nitschke
00079053
0000058813
calcification aorta, diverse arteries, pulmonary arteries; no periarticular calcifications; diffuse hypertrophy, pericardial effusion, global dysfunction; multiple echogenic foci in brain parenchyma, periventricular area; no bisphosphonates
-
-
Familial, autosomal recessive
35d
-
-
-
-
Yvonne Nitschke
00079054
0000058814
stillbirth; calcification aorta, pulmonary arteries; periarticular calcifications; pericardial effusion, cardiomegaly,; pleural effusion, splenomegaly, brain calcification (Thalamus); no bisphosphonates
-
-
Familial, autosomal recessive
-
-
-
-
-
Yvonne Nitschke
00079055
0000058815
calcification aorta, coronary arteries, pulmonary arteries; LV dysfunction, cardiomegaly,; brain calcification, kidney calcification; bisphosphonates pamidronate; no hypophosphatemia, no hypophosphaturia
-
-
Familial, autosomal recessive
-
-
-
-
-
Yvonne Nitschke
00079056
0000058816
died after 5h; calcification aorta, diverse arteries, pulmonary arteries, renal arteries; no periarticular calcifications; cardiomegaly; narrowing of splenic and mesenterial arteries; no bisphosphonates
-
-
Familial, autosomal recessive
1d
-
-
-
-
Yvonne Nitschke
00079057
0000058817
calcification coronary arteries, diverse arteries; no periarticular calcifications; cardiomegaly, LV dysfunction; pulmonary plethora; bisphosphonates risedronate
-
-
Familial, autosomal recessive
3m
-
-
-
-
Yvonne Nitschke
00079058
0000058818
died after 9h; calcification aorta, pulmonary arteries; no periarticular calcifications; dilated RV and LV, decreased contractility , cardiomegaly; hydrops fetalis, ascites, pleural effusion; no hypophosphatemia
-
-
Familial, autosomal recessive
-
-
-
-
-
Yvonne Nitschke
00079059
0000058819
calcification aorta; hypertension; bisphosphonates pamidronate; no resolution of calcifications;
-
-
Familial, autosomal recessive
2y
-
-
-
-
Yvonne Nitschke
00079060
0000058820
calcification diverse arteries; no periarticular calcifications; LV dysfunction, LV hypokinesia; bisphosphonates pamidronate; no resolution of calcifications
-
-
Familial, autosomal recessive
-
-
-
-
-
Yvonne Nitschke
00079061
0000058821
calcification aorta, coronary arteries, diverse arteries, pulmonary arteries; periarticular calcifications hips, ankles, wrists, shoulders; hypertension in neonatal period; angioid streaks in retina, cutaneous hyperlaxity, angioid skin spots, genu valgum hypophosphatemic rickets, pseudoxanthomatous lesions on the neck; bisphosphonatesclodronate p.o.; resolution of calcifications
-
-
Familial, autosomal recessive
10y
-
-
-
-
Yvonne Nitschke
00079062
0000058822
calcification aorta, diverse arteries, pulmonary arteries, renal arteries, endo- cardium; painful wrist calcifications in the neonatal period in hip, shoulder, wrist; genu valgum, angioid streaks in the Bruch’s membrane, deafness, cutaneous hyperlaxity, hypophosphatemic rickets developed at 3 years, stapedovestibular ankylosis leading to hearing loss; no bisphosphonates; no hypophosphatemia
-
-
Familial, autosomal recessive
3y
-
-
-
-
Yvonne Nitschke
00079063
0000058823
calcification aorta, coronary arteries, renal arteries; no periarticular calcifications; no bisphosphonates; no hypophosphatemia
-
-
Familial, autosomal recessive
-
-
-
-
-
Yvonne Nitschke
00079064
0000058824
calcification aorta, coronary arteries; no periarticular calcifications; bisphosphonates pamidronate, risedronate; resolution of calcifications
-
-
Familial, autosomal recessive
2y
-
-
-
-
Yvonne Nitschke
00079065
0000058825
calcification renal arteries, aorta, coronary arteries; periarticular calcifications hip, shoulder, wrists; pericardial effsuion, cardiomegaly, bicuspid aortic valve; polyhydramnios, large for gestational age, developmental disorder, phosphate diabetes, single transverse palmar crease, stenosis of A. sublcavia sinistra; bisphosphonates etidronate; resolution of calcifications
-
-
Familial, autosomal recessive
8y
-
-
-
-
Yvonne Nitschke
00079066
0000058826
calcification aorta, diverse arteries, coronary arteries, renal arteries;
-
-
Familial, autosomal recessive
-
-
-
-
-
Yvonne Nitschke
00079067
0000058827
calcification aorta, coronary arteries, pulmonary arteries, renal arteries; no periarticular calcifications; pericardial effusion; laminar necrosis of cinguate gyrus, hypoxic ischaemic encephalopathy
-
-
Familial, autosomal recessive
-
-
-
-
-
Yvonne Nitschke
00079068
0000058828
calcification aorta, diverse arteries, renal arteries; no periarticular calcifications; hypertension, cardiomegaly, pulmonary congestion, LV hypertrophy, dilated ventricels,; no bisphosphonates; no hypophosphatemia
-
-
Familial, autosomal recessive
2y9m
-
-
-
-
Yvonne Nitschke
00079069
0000058829
died after 5h; calcification aorta, coronary arteries, pulmonary arteries, renal arteries, heart valves ; no periarticular calcifications; no bisphosphonates
-
-
Familial, autosomal recessive
-
-
-
-
-
Yvonne Nitschke
00079070
0000058830
died after 30 min.; calcification diverse arteries; no periarticular calcifications; hydrops fetalis, subcutaneous oedema, ascites, atelectatis, anaemia, abnormalities of ureterovesical junction; no bisphosphonates
-
-
Familial, autosomal recessive
-
-
-
-
-
Yvonne Nitschke
00079071
0000058831
calcification aorta, coronary arteries, diverse arteries, renal arteries; no periarticular calcifications; pericardial effusion, myocardial hypertrophy, cardiac dilatation, bicuspid aortic valve, decreased contractility, interstitial oedema of myocardium; hydrops fetalis, ascites, pleural effusion, hepatosplenomegaly, periventricular leukomalacia, white matter gliosis; no bisphosphonates
-
-
Familial, autosomal recessive
1d
-
-
-
-
Yvonne Nitschke
00079072
0000058832
calcification aorta, coronary arteries, heart valves; no periarticular calcifications; bisphosphonates pamidronate; resolution of calcifications
-
-
Familial, autosomal recessive
2y6m
-
-
-
-
Yvonne Nitschke
00079073
0000058833
stillbirth; no bisphosphonates
-
-
Familial, autosomal recessive
0d
-
-
-
-
Yvonne Nitschke
00079074
0000306882
-
-
-
Unknown
-
-
-
-
-
Stephanie Mercurio
00415081
0000309026
-
-
-
Familial, autosomal recessive
-
-
-
-
-
Stephanie Mercurio
00417545
0000309027
-
-
-
Familial, autosomal recessive
-
-
-
-
-
Stephanie Mercurio
00417546
0000309033
-
-
-
Familial, autosomal recessive
-
-
-
-
-
Stephanie Mercurio
00417551
0000309040
-
-
-
Familial, autosomal recessive
-
-
-
-
-
Stephanie Mercurio
00417555
0000309041
-
-
-
Familial, autosomal recessive
-
-
-
-
-
Stephanie Mercurio
00417556
0000309047
-
-
-
Familial, autosomal recessive
-
-
-
-
-
Stephanie Mercurio
00417560
0000309048
-
-
-
Familial, autosomal recessive
-
-
-
-
-
Stephanie Mercurio
00417561
10 per page
25 per page
50 per page
100 per page
Legend
How to query
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our
APIs
to retrieve data.
Powered by
LOVD v.3.0
Build 30b
LOVD software ©2004-2024
Leiden University Medical Center
Database contents © by their respective submitters and curators