Disease #00129 (NICCD (Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency), OMIM:605814)

Official abbreviation	NICCD
Name	Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency
OMIM ID	605814
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	11
Phenotype entries for this disease	11
Associated with 1 gene	SLC25A13
Associated tissues	-
Disease features	-
Remarks	-
Date created	2021-06-01 16:05:54 +08:00 (CST)
Date last edited	N/A

Individuals

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Reference: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.

Gender: The gender of the reported individual.
All options:

? = Unknown
F = Female
M = Male
rF = Raised as female
rM = Raised as male

Geographic origin: The geographic origin of the individual (country and/or region); Belgium = individual's origin is Belgium, (France) = reported by laboratory in France, individual's origin not sure.

Ethnic origin: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).

Population: Additional information on the individual's population.

Remarks: Remarks about the individual.

Microattribution: An acknowledgment to data contributor to this database.

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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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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11 entries on 1 page. Showing entries 1 - 11.

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Individual ID	Reference	Gender	Geographic origin	Ethnic origin	Population	Remarks	Microattribution	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00000663	Hock Lock Ngu et al.(2010)	F	Malaysia	Malay	-	-	-	NICCD	birth weight: 2.3kg, jaundiced with pale-coloured stools and had a mild hepatosplenomegaly. Liver function test revealed conjugated hyperbilirubinemia and evidence of liver dysfunction.	SLC25A13	SLC25A13	1	1	Nur Aisyah Athirah
00000664	Hock Lock Ngu et al.(2010)	F	Malaysia	Malay	-	-	-	NICCD	birth weight: 2.1kg, jaundiced with pale stools, failure to thrive and a mild hepatosplenomegaly, had hypokalemia, hypophosphatemia and metabolic acidosis with normal anion gap. Hepatic sonography showed features of fatty liver but normal biliary tract. Hepatic biopsy showed generalized macrovesicular steatosis, bile stasis, and the portal tract was infiltrated by lymphocytes	SLC25A13	SLC25A13	1	1	Nur Aisyah Athirah
00000665	Hock Lock Ngu et al.(2010)	M	Malaysia	Malay	-	-	-	NICCD	birth weight: 2.5kg. Laboratory tests revealed conjugated hyperbilirubinemia. Total blood galactose was elevated seven times from normal but normalized at the age of 3 month.	SLC25A13	SLC25A13	2	1	Nur Aisyah Athirah
00000705	Hui Bein Chew et al.(2010)	M	Malaysia	Chinese	-	-	-	NICCD	Birth weight: 2.5kg, physiological jaundice at 3 weeks, Failure to thrive, Hepatomegaly, Splenomegaly.	SLC25A13	SLC25A13	1	1	Nur Aisyah Athirah
00000706	Hui Bein Chew et al.(2010)	F	Malaysia	Malay	-	-	-	NICCD	Birth weight: 2.3kg, jaundice at 8 weeks, Failure to thrive, Hepatomegaly, Splenomegaly.	SLC25A13	SLC25A13	1	1	Nur Aisyah Athirah
00000707	Hui Bein Chew et al.(2010)	M	Malaysia	Chinese	-	-	-	NICCD	Birth weight: 2.46kg, cholestatic jaundice at 8 weeks, Mild delay in development	SLC25A13	SLC25A13	1	1	Nur Aisyah Athirah
00000708	Hui Bein Chew et al.(2010)	F	Malaysia	Chinese	-	-	-	NICCD	Birth weight: 2.95kg, transient neonatal physiological jaundice at 8 weeks, Failure to thrive	SLC25A13	SLC25A13	1	1	Nur Aisyah Athirah
00000709	Hui Bein Chew et al.(2010)	F	Malaysia	Malay	-	-	-	NICCD	Birth weight: 2.1kg, cholestatic jaundice at 20 weeks, Failure to thrive, Hepatomegaly, Splenomegaly.	SLC25A13	SLC25A13	1	1	Nur Aisyah Athirah
00000710	Hui Bein Chew et al.(2010)	M	Malaysia	Malay	-	-	-	NICCD	Birth weight: 2.5kg, physiological jaundice at 8 weeks	SLC25A13	SLC25A13	2	1	Nur Aisyah Athirah
00000711	Hui Bein Chew et al.(2010)	M	Malaysia	Chinese	-	-	-	NICCD	Birth weight: 2.6kg, prolonged cholestatic jaundice at 8 weeks, Hepatomegaly	SLC25A13	SLC25A13	2	1	Nur Aisyah Athirah
00000712	Hui Bein Chew et al.(2010)	F	Malaysia	Malay	-	-	-	NICCD	Birth weight: 2.5kg, prolonged cholestatic jaundice at 4 weeks, Hepatomegaly.	SLC25A13	SLC25A13	1	1	Nur Aisyah Athirah

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