Phenotypes for disease #00119 (DKC (dyskeratosis congenita (DKC)))

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/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

Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

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.

19 entries on 1 page. Showing entries 1 - 19.

Legend

How to query

Phenotype ID	Diagnosis/Initial	Inheritance	Age/Examination	Diagnosis/Definite	Age/Diagnosis	Age/Onset	Phenotype/Onset	Phenotype details	Protein	Owner	Individual ID
0000000087	-	Familial, autosomal recessive	-	-	-	-	-	-	-	Anne Polvi	00000398
0000000088	-	Familial, autosomal recessive	-	-	-	-	-	-	-	Anne Polvi	00000399
0000000089	-	Familial, autosomal recessive	-	-	-	-	-	-	-	Anne Polvi	00000400
0000082977	-	Familial, autosomal dominant	-	-	-	-	-	dyskeratosis congenita	-	Johan den Dunnen	00105076
0000083009	-	Familial, autosomal dominant	-	-	-	-	-	dyskeratosis congenita	-	Johan den Dunnen	00105110
0000083017	-	Familial, autosomal dominant	-	-	-	-	-	dyskeratosis congenita	-	Johan den Dunnen	00105118
0000083020	-	Familial, autosomal dominant	-	-	-	-	-	dyskeratosis congenita	-	Johan den Dunnen	00105121
0000083025	-	Familial, autosomal dominant	-	-	-	-	-	dyskeratosis congenita	-	Johan den Dunnen	00105129
0000121232	Atypical Dementia, Spastic Paraparesis	Familial, autosomal dominant	-	-	-	-	-	-	-	Marc Cruts	00148814
0000306957	dyskeratosis congenita	Familial, autosomal recessive	2y	-	-	-	-	1y-abnormalities in skin pigmentation; 1y-nail dystrophy; leukoplakia; hair loss, thin eye lashes; normal blood count, raised HbF; low IgM; recurrent infections in first year, intrauterine growth restriction, gastro-oesophageal reflux, failure to thrive	-	Johan den Dunnen	00415156
0000306958	dyskeratosis congenita	Familial, autosomal recessive	2y	-	-	-	-	1d-abnormalities in skin pigmentation; 1d-nail dystrophy; no leukoplakia; hair loss, thin eye lashes; no hematological abnormalities; low IgA/IgG; reduction of fingerprints	-	Johan den Dunnen	00415157
0000306959	dyskeratosis congenita	Familial, autosomal recessive	3y	-	-	-	-	1y-abnormalities in skin pigmentation; 1y-nail dystrophy; no leukoplakia; hair loss, thin eye lashes; normal blood count, raised HbF; low IgM; recurrent infections first year	-	Johan den Dunnen	00415158
0000306960	dyskeratosis congenita	Familial, autosomal recessive	10m	-	-	-	-	1y-abnormalities in skin pigmentation; 1y-nail dystrophy; no leukoplakia; hair loss, thin eye lashes; anemia (98 g/L), other blood counts normal; low IgA; short stature, recurrent respiratory/gastro-intestinal infections first year	-	Johan den Dunnen	00415159
0000306961	dyskeratosis congenita	Familial, autosomal recessive	1y	-	-	-	-	1y-abnormalities in skin pigmentation; nail dystrophy; no leukoplakia; hair loss, thin eye lashes; no hematological abnormalities; low IgA; abnormal teeth	-	Johan den Dunnen	00415160
0000306962	dyskeratosis congenita	Familial, autosomal recessive	26y	-	-	-	-	1y-abnormalities in skin pigmentation; 5y-nail dystrophy; no leukoplakia; hair loss, thin eye lashes; no hematological abnormalities; bilateral ptosis, tooth discolouration, intermediate increased response to mitomycin-C, basal carcinoma chest, squamous carcinoma and melanoma on leg, severe response to topical 5-FU treatment	-	Johan den Dunnen	00415161
0000306963	dyskeratosis congenita	Familial, autosomal recessive	3y	-	-	-	-	1d-abnormalities in skin pigmentation; 2y-nail dystrophy; leukoplakia; hair loss, thin eye lashes; normal blood count, raised HbF; no immune defects; abnormal facies, dysphagia, microcephaly.	-	Johan den Dunnen	00415162
0000306964	dyskeratosis congenita	Familial, autosomal recessive	4y	-	-	-	-	1y-abnormalities in skin pigmentation; 2y-nail dystrophy; no leukoplakia; no hematological abnormalities; low IgA; epiphora, small testes; short stature	-	Johan den Dunnen	00415163
0000306965	dyskeratosis congenita	Familial, autosomal recessive	27y	-	-	-	-	6y-abnormalities in skin pigmentation; 6y-nail dystrophy; leukoplakia; hair loss, thin eye lashes; no hematological abnormalities	-	Johan den Dunnen	00415164
0000306966	dyskeratosis congenita	Familial, autosomal recessive	25y	-	-	-	-	abnormalities in skin pigmentation; nail dystrophy; leukoplakia; hair loss, thin eye lashes; no hematological abnormalities	-	Johan den Dunnen	00415165

Legend

How to query

Global Variome shared LOVD