NICCD
MCID: CTR077
MIFTS: 39

Citrullinemia, Type Ii, Neonatal-Onset (NICCD)

Categories: Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Citrullinemia, Type Ii, Neonatal-Onset

MalaCards integrated aliases for Citrullinemia, Type Ii, Neonatal-Onset:

Name: Citrullinemia, Type Ii, Neonatal-Onset 56 73 13 39 71
Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency 52 58 29 6
Niccd 56 52 58 73
Citrin Deficiency 52 73 71
Citrullinemia, Type Ii, Neonatal-Onset, with or Without Failure to Thrive and Dyslipidemia 56 73
Cholestasis, Neonatal Intrahepatic, Caused by Citrin Deficiency 56 73
Neonatal-Onset Citrullinemia Type Ii 52 73
Neonatal-Onset Citrullinemia Type 2 52 73
Cholestasis, Neonatal Intrahepatic, Caused by Citrin Deficiency; Niccd 56
Neonatal Intrahepatic Cholestasis Due to Citrin Deficiency 58
Adult-Onset Citrullinemia Type 2 71

Characteristics:

Orphanet epidemiological data:

58
neonatal intrahepatic cholestasis due to citrin deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
most have resolution of symptoms between 6 and 12 months
some patients may develop concurrent failure to thrive and dyslipidemia
natural aversion to carbohydrates and favoring of protein


HPO:

31
citrullinemia, type ii, neonatal-onset:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Citrullinemia, Type Ii, Neonatal-Onset

NIH Rare Diseases : 52 Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a liver condition is also known as neonatal-onset type II citrullinemia. NICCD blocks the flow of bile (a digestive fluid produced by the liver) and prevents the body from processing certain nutrients properly. This leads to transient intrahepatic cholestasis and variable liver dysfunction in children younger than one year of age. NICCD is generally not severe, and symptoms disappear by age one year with appropriate treatment. Years or even decades later, however, some of these individuals develop the characteristic features of adult-onset type II citrullinemia . NICCD is caused by mutations in the SLC25A13 gene . This condition is inherited in an autosomal recessive pattern.

MalaCards based summary : Citrullinemia, Type Ii, Neonatal-Onset, also known as neonatal intrahepatic cholestasis caused by citrin deficiency, is related to citrullinemia, type ii, adult-onset and citrullinemia, classic. An important gene associated with Citrullinemia, Type Ii, Neonatal-Onset is SLC25A13 (Solute Carrier Family 25 Member 13). The drugs carbamide peroxide and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include liver and brain, and related phenotypes are hypertriglyceridemia and jaundice

OMIM : 56 Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive metabolic disorder characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline. Most patients show spontaneous improvement by 1 year of age. However, some patients may have a progressive course with continued failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and some may develop chronic or fatal liver disease (summary by Song et al., 2011). (605814)

UniProtKB/Swiss-Prot : 73 Cholestasis, neonatal intrahepatic, caused by citrin deficiency: A form of citrullinemia type 2 with neonatal onset, characterized by suppression of the bile flow, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, variable liver dysfunction. Neonatal intrahepatic cholestasis due to citrin deficiency is generally not severe and symptoms disappear by one year of age with an appropriate diet. Years or even decades later, however, some individuals develop the characteristic features of citrullinemia type 2 with neuropsychiatric symptoms.

Related Diseases for Citrullinemia, Type Ii, Neonatal-Onset

Diseases in the Citrullinemia, Type Ii, Neonatal-Onset family:

Acute Neonatal Citrullinemia Type I

Diseases related to Citrullinemia, Type Ii, Neonatal-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 citrullinemia, type ii, adult-onset 12.5
2 citrullinemia, classic 11.9
3 cholestasis 11.0
4 cholestasis, intrahepatic, of pregnancy, 1 10.7
5 carbonic anhydrase va deficiency, hyperammonemia due to 10.6
6 fatty liver disease 10.6
7 autosomal recessive disease 10.5
8 hypoglycemia 10.5
9 biliary atresia 10.5
10 lipid metabolism disorder 10.5
11 liver disease 10.5
12 galactosemia 10.4
13 bilirubin metabolic disorder 10.3
14 argininosuccinic aciduria 10.3
15 fatty liver disease, nonalcoholic 1 10.3
16 tyrosinemia 10.3
17 hepatocellular carcinoma 10.2
18 galactokinase deficiency 10.2
19 neonatal jaundice 10.2
20 subacute delirium 10.2
21 encephalopathy 10.2
22 ocular motor apraxia 10.1
23 phenylketonuria 10.1
24 abdominal obesity-metabolic syndrome 1 10.1
25 non-alcoholic fatty liver disease 10.1
26 syphilis 10.1
27 brain edema 10.1
28 hemolytic anemia 10.1
29 inherited metabolic disorder 10.1
30 urea cycle disorder 10.1
31 hyperphenylalaninemia 10.1
32 tremor 10.1
33 hypercholesterolemia, familial, 1 10.0
34 hypertriglyceridemia, familial 10.0
35 dowling-degos disease 1 10.0
36 glycogen storage disease ia 10.0
37 tyrosinemia, type i 10.0
38 anorexia nervosa 10.0
39 non-alcoholic steatohepatitis 10.0
40 esophageal atresia 10.0
41 familial hyperlipidemia 10.0
42 visual epilepsy 10.0
43 hepatic coma 10.0
44 hepatic encephalopathy 10.0
45 obstructive jaundice 10.0
46 glycogen storage disease 10.0
47 purpura 10.0
48 liver cirrhosis 10.0
49 rubella 10.0
50 congenital syphilis 10.0

Graphical network of the top 20 diseases related to Citrullinemia, Type Ii, Neonatal-Onset:



Diseases related to Citrullinemia, Type Ii, Neonatal-Onset

Symptoms & Phenotypes for Citrullinemia, Type Ii, Neonatal-Onset

Human phenotypes related to Citrullinemia, Type Ii, Neonatal-Onset:

58 31 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertriglyceridemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002155
2 jaundice 58 31 hallmark (90%) Very frequent (99-80%) HP:0000952
3 decreased antibody level in blood 58 31 hallmark (90%) Very frequent (99-80%) HP:0004313
4 lactic acidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003128
5 hyperbilirubinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002904
6 increased lactate dehydrogenase activity 58 31 hallmark (90%) Very frequent (99-80%) HP:0025435
7 elevated alpha-fetoprotein 58 31 hallmark (90%) Very frequent (99-80%) HP:0006254
8 prolonged prothrombin time 58 31 hallmark (90%) Very frequent (99-80%) HP:0008151
9 hypoalbuminemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003073
10 elevated alkaline phosphatase 58 31 hallmark (90%) Very frequent (99-80%) HP:0003155
11 elevated plasma citrulline 58 31 hallmark (90%) Very frequent (99-80%) HP:0011966
12 hypergalactosemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0012024
13 elevated gamma-glutamyltransferase activity 58 31 hallmark (90%) Very frequent (99-80%) HP:0030948
14 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
15 hepatic steatosis 58 31 frequent (33%) Frequent (79-30%) HP:0001397
16 failure to thrive in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0001531
17 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
18 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
19 hyperammonemia 58 31 frequent (33%) Frequent (79-30%) HP:0001987
20 hepatosplenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001433
21 hyperlysinemia 58 31 frequent (33%) Frequent (79-30%) HP:0002161
22 hypertyrosinemia 58 31 frequent (33%) Frequent (79-30%) HP:0003231
23 abnormal circulating alanine concentration 58 31 frequent (33%) Frequent (79-30%) HP:0010916
24 abnormal circulating glutamine concentration 31 frequent (33%) HP:0010903
25 abnormal circulating arginine concentration 31 frequent (33%) HP:0010909
26 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
27 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
28 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002239
29 increased ldl cholesterol concentration 58 31 occasional (7.5%) Occasional (29-5%) HP:0003141
30 hypercholesterolemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003124
31 increased urinary glycerol 58 31 occasional (7.5%) Occasional (29-5%) HP:0040301
32 ketonuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002919
33 poor appetite 58 31 occasional (7.5%) Occasional (29-5%) HP:0004396
34 decreased hdl cholesterol concentration 58 31 occasional (7.5%) Occasional (29-5%) HP:0003233
35 hypermethioninemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003235
36 hyperthreoninemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003354
37 abnormal circulating serine concentration 31 occasional (7.5%) HP:0012278
38 cataract 58 31 very rare (1%) Very rare (<4-1%) HP:0000518
39 failure to thrive 31 HP:0001508
40 abnormal bleeding 58 Very rare (<4-1%)
41 cirrhosis 31 HP:0001394
42 growth delay 31 HP:0001510
43 abnormality of lipid metabolism 58 Very frequent (99-80%)
44 cholestasis 58 Very frequent (99-80%)
45 intrahepatic cholestasis 31 HP:0001406
46 abnormality of glutamine metabolism 58 Frequent (79-30%)
47 abnormality of arginine metabolism 58 Frequent (79-30%)
48 abnormality of serine metabolism 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive
poor growth

Laboratory Abnormalities:
increased serum triglycerides
decreased hdl cholesterol
increased cholesterol
elevated bilirubin (bilirubinemia)
elevated plasma citrulline (citrullinemia)
more
Abdomen Liver:
cirrhosis
intrahepatic cholestasis
elevated bilirubin (bilirubinemia)

Hematology:
echinocytosis

Clinical features from OMIM:

605814

Drugs & Therapeutics for Citrullinemia, Type Ii, Neonatal-Onset

Drugs for Citrullinemia, Type Ii, Neonatal-Onset (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
carbamide peroxide Approved 124-43-6
2 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prospective Cross-Sectional Non-invasive Assessment of Chronic Liver Disease in Urea Cycle Disorders Recruiting NCT03721367

Search NIH Clinical Center for Citrullinemia, Type Ii, Neonatal-Onset

Genetic Tests for Citrullinemia, Type Ii, Neonatal-Onset

Genetic tests related to Citrullinemia, Type Ii, Neonatal-Onset:

# Genetic test Affiliating Genes
1 Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency 29 SLC25A13

Anatomical Context for Citrullinemia, Type Ii, Neonatal-Onset

MalaCards organs/tissues related to Citrullinemia, Type Ii, Neonatal-Onset:

40
Liver, Brain

Publications for Citrullinemia, Type Ii, Neonatal-Onset

Articles related to Citrullinemia, Type Ii, Neonatal-Onset:

(show top 50) (show all 98)
# Title Authors PMID Year
1
Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation. 56 6
12424587 2002
2
Infantile cholestatic jaundice associated with adult-onset type II citrullinemia. 56 6
11343052 2001
3
Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy. 56 6
11343053 2001
4
Neonatal presentation of adult-onset type II citrullinemia. 56 6
11281457 2001
5
Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia. 56 6
11153906 2000
6
The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. 56 6
10369257 1999
7
Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center. 61 56
21424115 2011
8
Citrin Deficiency 61 6
20301360 2005
9
Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency. 61 56
16059747 2005
10
Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations. 61 56
11793471 2002
11
Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). 61 56
12111366 2002
12
A longitudinal study of urea cycle disorders. 56
25135652 2014
13
Type II citrullinaemia (citrin deficiency) in a neonate with hypergalactosaemia detected by mass screening. 56
11999983 2002
14
Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13. 61
31809266 2020
15
Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency. 61
31845334 2019
16
[Newborn screening program and blood amino acid profiling in early neonates with citrin deficiency]. 61
31594068 2019
17
Serum bile acids profiling by liquid chromatography-tandem mass spectrometry (LC-MS/MS) and its application on pediatric liver and intestinal diseases. 61
31639099 2019
18
Identification of a novel splicing mutation in the SLC25A13 gene from a patient with NICCD: a case report. 61
31607264 2019
19
Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2. 61
31255436 2019
20
Growth impairment in individuals with citrin deficiency. 61
30715743 2019
21
A Case Report: Can Citrin Deficiency Lead to Hepatocellular Carcinoma in Children? 61
31620407 2019
22
Risk factors associated with mortality in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and clinical implications. 61
30642297 2019
23
Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the Apparently Healthy Period. 61
29654547 2019
24
Molecular and clinical characterization of citrin deficiency in a cohort of Chinese patients in Hong Kong. 61
30181955 2018
25
Medium-chain triglycerides supplement therapy with a low-carbohydrate formula can supply energy and enhance ammonia detoxification in the hepatocytes of patients with adult-onset type II citrullinemia. 61
29651749 2018
26
Cholesterol Metabolism Is Enhanced in the Liver and Brain of Children With Citrin Deficiency. 61
29659898 2018
27
[Analysis of SLC25A13 gene mutations in five infants with neonatal intrahepatic cholestasis caused by citrin deficiency]. 61
29419856 2018
28
Adult-onset type II citrullinemia: Current insights and therapy. 61
30588060 2018
29
Bile acid profiles in neonatal intrahepatic cholestasis caused by citrin deficiency. 61
28987776 2017
30
Analysis of islet beta cell functions and their correlations with liver dysfunction in patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). 61
29137101 2017
31
Molecular diagnosis of citrin deficiency in an infant with intrahepatic cholestasis: identification of a 21.7kb gross deletion that completely silences the transcriptional and translational expression of the affected SLC25A13 allele. 61
29152073 2017
32
Blood glucose and insulin and correlation of SLC25A13 mutations with biochemical changes in NICCD patients. 61
28516797 2017
33
Biochemical and molecular characteristics of citrin deficiency in Korean children. 61
27829683 2017
34
p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency. 61
29376577 2017
35
SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency. 61
27779681 2016
36
[Value of albumin in diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency]. 61
27938561 2016
37
Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution. 61
27405544 2016
38
Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Differentiated from Biliary Atresia. 61
25988746 2016
39
Chronic hepatitis without hepatic steatosis caused by citrin deficiency in a child. 61
26190322 2016
40
Identification of a Large SLC25A13 Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD): A Clinical and Molecular Study. 61
27127784 2016
41
[Treatment and Pathomechanism of Citrin Deficiency]. 61
26062589 2015
42
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China. 61
25781538 2015
43
Novel mutations in the SLC25A13 gene in a patient with NICCD and severe manifestations. 61
25381944 2015
44
Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance. 61
25216257 2014
45
Clinical, molecular and functional investigation on an infant with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). 61
24586645 2014
46
Medium-chain triglyceride supplementation under a low-carbohydrate formula is a promising therapy for adult-onset type II citrullinemia. 61
27896073 2014
47
First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene. 61
25365849 2014
48
A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing. 61
24161253 2014
49
[Characteristics of the plasma amino acid spectrum of neonatal intrahepatic cholestasis caused by citrin deficiency]. 61
24636297 2013
50
Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency. 61
23053473 2013

Variations for Citrullinemia, Type Ii, Neonatal-Onset

ClinVar genetic disease variations for Citrullinemia, Type Ii, Neonatal-Onset:

6 (show all 25) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC25A13 NM_014251.3(SLC25A13):c.852_855del (p.Met285fs)deletion Pathogenic 225472 rs80338720 7:95818684-95818687 7:96189372-96189375
2 SLC25A13 NM_014251.3(SLC25A13):c.1177+1G>ASNV Pathogenic 6002 rs80338722 7:95813588-95813588 7:96184276-96184276
3 SLC25A13 NM_014251.3(SLC25A13):c.1799dup (p.Tyr600Ter)duplication Pathogenic 6006 rs80338726 7:95751008-95751009 7:96121696-96121697
4 SLC25A13 NM_014251.3(SLC25A13):c.1078C>T (p.Arg360Ter)SNV Pathogenic 21508 rs80338721 7:95813688-95813688 7:96184376-96184376
5 SLC25A13 NM_014251.3(SLC25A13):c.1592G>A (p.Gly531Asp)SNV Pathogenic 21509 rs80338724 7:95751309-95751309 7:96121997-96121997
6 SLC25A13 NM_014251.3(SLC25A13):c.15G>A (p.Lys5=)SNV Pathogenic 21510 rs80338715 7:95951254-95951254 7:96321942-96321942
7 SLC25A13 NM_014251.2(SLC25A13):c.1750_1751[insNM_138459.3:2672_24;1750+72_1751-4dup]complex Pathogenic 21511
8 SLC25A13 NM_014251.3(SLC25A13):c.1801G>A (p.Glu601Lys)SNV Pathogenic 21512 rs80338727 7:95751007-95751007 7:96121695-96121695
9 SLC25A13 NM_014251.3(SLC25A13):c.1801G>T (p.Glu601Ter)SNV Pathogenic 21513 rs80338727 7:95751007-95751007 7:96121695-96121695
10 SLC25A13 NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter)SNV Pathogenic 21514 rs80338729 7:95750995-95750995 7:96121683-96121683
11 SLC25A13 NM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter)SNV Pathogenic 21515 rs80338716 7:95822414-95822414 7:96193102-96193102
12 SLC25A13 NM_014251.3(SLC25A13):c.615+1G>CSNV Pathogenic 21516 rs80338718 7:95822348-95822348 7:96193036-96193036
13 SLC25A13 NM_014251.3(SLC25A13):c.775C>T (p.Gln259Ter)SNV Pathogenic 252920 rs746155190 7:95818966-95818966 7:96189654-96189654
14 SLC25A13 NM_014251.3(SLC25A13):c.495del (p.Ala166fs)deletion Pathogenic 252924 rs879255504 7:95822469-95822469 7:96193157-96193157
15 SLC25A13 NM_014251.3(SLC25A13):c.1664_1665insAGATTACAGGTGGCTGCCCGGGG (p.Gln556fs)insertion Pathogenic 590803 rs1562774655 7:95751236-95751237 7:96121924-96121925
16 SLC25A13 NM_014251.3(SLC25A13):c.493C>T (p.Gln165Ter)SNV Pathogenic 590804 rs1562831765 7:95822471-95822471 7:96193159-96193159
17 SLC25A13 NM_014251.3(SLC25A13):c.615+5G>ASNV Pathogenic/Likely pathogenic 21517 rs80338717 7:95822344-95822344 7:96193032-96193032
18 SLC25A13 NM_014251.3(SLC25A13):c.468+1G>CSNV Likely pathogenic 417947 rs1060499612 7:95838149-95838149 7:96208837-96208837
19 SLC25A13 NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala)SNV Conflicting interpretations of pathogenicity 203938 rs148962110 7:95750621-95750621 7:96121309-96121309
20 SLC25A13 NM_014251.3(SLC25A13):c.1267G>A (p.Asp423Asn)SNV Uncertain significance 587600 rs553863381 7:95799401-95799401 7:96170089-96170089
21 SLC25A13 NM_014251.3(SLC25A13):c.616-11A>GSNV Uncertain significance 252923 rs879255503 7:95820570-95820570 7:96191258-96191258
22 SLC25A13 NM_014251.3(SLC25A13):c.1064G>A (p.Arg355Gln)SNV Uncertain significance 92110 rs398122839 7:95813702-95813702 7:96184390-96184390
23 SLC25A13 NM_014251.3(SLC25A13):c.1958A>G (p.Lys653Arg)SNV Uncertain significance 252919 rs879255501 7:95750573-95750573 7:96121261-96121261
24 SLC25A13 NM_014251.3(SLC25A13):c.1505C>T (p.Pro502Leu)SNV Uncertain significance 252921 rs139149160 7:95761141-95761141 7:96131829-96131829
25 SLC25A13 NM_014251.3(SLC25A13):c.1311C>T (p.Cys437=)SNV Uncertain significance 252922 rs879255502 7:95799357-95799357 7:96170045-96170045

UniProtKB/Swiss-Prot genetic disease variations for Citrullinemia, Type Ii, Neonatal-Onset:

73
# Symbol AA change Variation ID SNP ID
1 SLC25A13 p.Glu601Lys VAR_016601 rs80338727

Expression for Citrullinemia, Type Ii, Neonatal-Onset

Search GEO for disease gene expression data for Citrullinemia, Type Ii, Neonatal-Onset.

Pathways for Citrullinemia, Type Ii, Neonatal-Onset

GO Terms for Citrullinemia, Type Ii, Neonatal-Onset

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