Phenotypes for disease #00753 (BPS (Bartsocas-Papas syndrome))

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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

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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'

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6 entries on 1 page. Showing entries 1 - 6.

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How to query

Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000238513	see paper; ..., 17w-pregnancy terminated, severe intrauterine developmental abnormalities	severe intrauterine developmental abnormalities	BPS	Familial, autosomal recessive	<00y00m00d	-	-	-	-	Bayram Toraman	00314711
0000349740	see paper; ..., pregnancy multiple congenital abnormalities; 1w preterm fetal bradycardia; birth weight 2.95kg, OFC 34cm; alopecia totalis, sparse scalp hair, partial ankyloblepharon, oral synechia partial occlusion oral cavity, hypertelorism, cloudy corneas, absent thumbs, finger oligosyndactyly, hypoplastic genitalia, extensive popliteal pterygia, toe oligosyndactyly, multiple skin tags, unusual fibrous tethers between feet/suprapubic region	multiple congenital abnormalities	BPS	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00462239
0000349745	see paper; ..., orofacial clefting; pterygia; ankyloblepharon; oral synechia; syndactyly; genital hypoplasia; sparse hair; no lip pits; hypoplastic nails	Bartsocas-Papas syndrome	BPS1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00462245
0000349746	see paper; ..., orofacial clefting; pterygia; ankyloblepharon; oral synechia; genital hypoplasia; sparse hair; lip pits; bilateral cleft lip/palate, lower lip pits, bands between jaws, bilateral club feet, popliteal pterygia, no eyelashes, no eyebrows, sparse scalp hair, brittle nails, absent/small toenails, III-IV-V syndactyly right foot, triangular overgrowth skin over nail first right toe	Bartsocas-Papas syndrome	BPS1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00462246
0000349747	see paper; ..., orofacial clefting; pterygia; ankyloblepharon; oral synechia; syndactyly; genital hypoplasia; sparse hair; no lip pits	Bartsocas-Papas syndrome	BPS2	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00462247
0000349748	see paper; ..., 17w-aborted fetus (facial cleft, omphalocele, fetal immobility, arthrogryposis); facial appearance Bartsocas-Papas syndrome (no eyelids, bilateral labio-maxillo palatal cleft, nasal hypoplasia, small ears attached to scalp), small omphalocele, multiple pterygia upper/lower limbs, syndactyly hands/feet, club feet, anal atresia, absence external genitalia male fetus	Bartsocas-Papas syndrome	BPS1	Familial, autosomal recessive	<00y00m00d	-	-	-	-	Johan den Dunnen	00462248

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Global Variome shared LOVD