NICCD
MCID: CTR077
MIFTS: 42

Citrullinemia, Type Ii, Neonatal-Onset (NICCD)

Categories: Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases
Data Licensing
For inquiries, contact:

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

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

Name: Citrullinemia, Type Ii, Neonatal-Onset 57 73 12 38 71
Niccd 57 19 58 73
Neonatal Intrahepatic Cholestasis Due to Citrin Deficiency 58 28 5
Citrin Deficiency 19 73 71
Citrullinemia, Type Ii, Neonatal-Onset, with or Without Failure to Thrive and Dyslipidemia 57 73
Cholestasis, Neonatal Intrahepatic, Caused by Citrin Deficiency 57 73
Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency 19 58
Neonatal-Onset Type Ii Citrullinemia 11 14
Neonatal-Onset Citrullinemia Type Ii 19 73
Neonatal-Onset Citrullinemia Type 2 19 73
Neonatal-Onset Type 2 Citrullinemia 11
Adult-Onset Citrullinemia Type 2 71

Characteristics:


Inheritance:

Citrullinemia, Type Ii, Neonatal-Onset: Autosomal recessive 57
Neonatal Intrahepatic Cholestasis Due to Citrin Deficiency: Autosomal recessive 58

Age Of Onset:

Neonatal Intrahepatic Cholestasis Due to Citrin Deficiency: Infancy,Neonatal 58

OMIM®:

57 (Updated 24-Oct-2022)
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


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Citrullinemia, Type Ii, Neonatal-Onset

GARD: 19 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. NICCD is caused by genetic changes in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.

MalaCards based summary: Citrullinemia, Type Ii, Neonatal-Onset, also known as niccd, 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). Affiliated tissues include liver and brain, and related phenotypes are hypertriglyceridemia and jaundice

UniProtKB/Swiss-Prot: 73 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.

OMIM®: 57 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) (Updated 24-Oct-2022)

Orphanet: 58 A mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.

Disease Ontology: 11 A citrullinemia that is characterized by confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures and coma, caused by citrin deficiency (NICCD), and has material basis in homozygous or compound heterozygous mutation in the SLC25A13 gene.

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 80)
# Related Disease Score Top Affiliating Genes
1 citrullinemia, type ii, adult-onset 11.9
2 citrullinemia, classic 11.5
3 cholestasis 10.9
4 intrahepatic cholestasis 10.9
5 carbonic anhydrase va deficiency, hyperammonemia due to 10.6
6 liver disease 10.5
7 lipid metabolism disorder 10.5
8 hypoglycemia 10.5
9 biliary atresia 10.5
10 hemochromatosis, neonatal 10.5
11 non-alcoholic fatty liver disease 10.4
12 galactosemia i 10.4
13 obstructive jaundice 10.4
14 bilirubin metabolic disorder 10.4
15 inherited metabolic disorder 10.3
16 fatty liver disease, nonalcoholic 1 10.3
17 neonatal jaundice 10.3
18 abdominal obesity-metabolic syndrome 1 10.2
19 urea cycle disorder 10.2
20 tyrosinemia 10.2
21 encephalopathy 10.2
22 dubin-johnson syndrome 10.2
23 ataxia with vitamin e deficiency 10.2
24 vitamin k deficiency bleeding 10.2
25 hepatitis 10.2
26 brain edema 10.2
27 subacute delirium 10.2
28 fatty liver disease 10.2
29 adult syndrome 10.1
30 hepatocellular carcinoma 10.1
31 hypercholesterolemia, familial, 1 10.1
32 carnitine deficiency, systemic primary 10.1
33 ocular motor apraxia 10.1
34 phenylketonuria 10.1
35 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.1
36 syphilis 10.1
37 hemolytic anemia 10.1
38 children's interstitial lung disease 10.1
39 alcohol dependence 9.9
40 hypertriglyceridemia 1 9.9
41 dowling-degos disease 1 9.9
42 autism 9.9
43 glycogen storage disease ia 9.9
44 tyrosinemia, type i 9.9
45 fanconi anemia, complementation group e 9.9
46 anorexia nervosa 9.9
47 malaria 9.9
48 developmental and epileptic encephalopathy 39 9.9
49 cholangiocarcinoma 9.9
50 hypercholanemia, familial, 2 9.9

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 30 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertriglyceridemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002155
2 jaundice 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000952
3 elevated alpha-fetoprotein 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006254
4 hyperbilirubinemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002904
5 hypoalbuminemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003073
6 prolonged prothrombin time 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008151
7 lactic acidosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003128
8 elevated plasma citrulline 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011966
9 hypergalactosemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012024
10 increased circulating lactate dehydrogenase concentration 30 Hallmark (90%) HP:0025435
11 elevated circulating alkaline phosphatase concentration 30 Hallmark (90%) HP:0003155
12 decreased circulating antibody level 30 Hallmark (90%) HP:0004313
13 elevated gamma-glutamyltransferase level 30 Hallmark (90%) HP:0030948
14 hepatic steatosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001397
15 failure to thrive in infancy 58 30 Frequent (33%) Frequent (79-30%)
HP:0001531
16 elevated hepatic transaminase 58 30 Frequent (33%) Frequent (79-30%)
HP:0002910
17 hyperammonemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001987
18 diarrhea 58 30 Frequent (33%) Frequent (79-30%)
HP:0002014
19 hepatosplenomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001433
20 hyperlysinemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002161
21 hypertyrosinemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0003231
22 abnormal circulating alanine concentration 58 30 Frequent (33%) Frequent (79-30%)
HP:0010916
23 abnormal circulating glutamine concentration 30 Frequent (33%) HP:0010903
24 abnormal circulating arginine concentration 30 Frequent (33%) HP:0010909
25 anemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001903
26 intrauterine growth retardation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001511
27 increased ldl cholesterol concentration 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003141
28 hypercholesterolemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003124
29 gastrointestinal hemorrhage 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002239
30 decreased hdl cholesterol concentration 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003233
31 poor appetite 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004396
32 ketonuria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002919
33 hypermethioninemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003235
34 increased urinary glycerol 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0040301
35 hyperthreoninemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003354
36 abnormal circulating serine concentration 30 Occasional (7.5%) HP:0012278
37 cataract 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000518
38 failure to thrive 30 HP:0001508
39 hepatomegaly 58 Frequent (79-30%)
40 growth delay 30 HP:0001510
41 cirrhosis 30 HP:0001394
42 decreased antibody level in blood 58 Very frequent (99-80%)
43 abnormal circulating lipid concentration 58 Very frequent (99-80%)
44 abnormal bleeding 58 Very rare (<4-1%)
45 cholestasis 58 Very frequent (99-80%)
46 intrahepatic cholestasis 30 HP:0001406
47 elevated alkaline phosphatase 58 Very frequent (99-80%)
48 increased lactate dehydrogenase activity 58 Very frequent (99-80%)
49 abnormality of glutamine metabolism 58 Frequent (79-30%)
50 elevated gamma-glutamyltransferase activity 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 (Updated 24-Oct-2022)

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

Search Clinical Trials, 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 Due to Citrin Deficiency 28 SLC25A13

Anatomical Context for Citrullinemia, Type Ii, Neonatal-Onset

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

MalaCards : Liver, Brain

Publications for Citrullinemia, Type Ii, Neonatal-Onset

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

(show top 50) (show all 246)
# Title Authors PMID Year
1
Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation. 62 57 5
12424587 2002
2
Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy. 57 5
11343053 2001
3
Infantile cholestatic jaundice associated with adult-onset type II citrullinemia. 57 5
11343052 2001
4
Neonatal presentation of adult-onset type II citrullinemia. 57 5
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. 57 5
11153906 2000
6
The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. 57 5
10369257 1999
7
Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2. 62 57
31255436 2019
8
[Clinical investigation and mutation analysis of a child with citrin deficiency complicated with purpura, convulsive seizures and methioninemia]. 62 5
24327139 2013
9
Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center. 62 57
21424115 2011
10
[SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency]. 62 5
21507300 2011
11
Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency. 62 57
16059747 2005
12
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. 62 57
11793471 2002
13
Type II citrullinaemia (citrin deficiency) in a neonate with hypergalactosaemia detected by mass screening. 62 57
11999983 2002
14
Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). 62 57
12111366 2002
15
A longitudinal study of urea cycle disorders. 57
25135652 2014
16
Asymptomatic ASS1 carriers with high blood citrulline levels. 62
35726796 2022
17
Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency. 62
35725541 2022
18
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier. 62
36079864 2022
19
Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test. 62
35798653 2022
20
Obstacles to home-based dietary management for caregivers of children with citrin deficiency: a qualitative study. 62
35804387 2022
21
Lactate-buffered solutions in patients with citrin deficiency. 62
35217971 2022
22
[Disease spectrum analysis of children with inherited metabolic diseases detected by gas chromatography-mass spectrometry of urinary organic acids]. 62
35658356 2022
23
Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan. 62
35142380 2022
24
The diagnostic challenge of mild citrulline elevation at newborn screening. 62
35279366 2022
25
Desflurane and remifentanil anesthesia in a child with citrin deficiency: A case report. 62
35244055 2022
26
Usefulness of serum BUN or BUN/creatinine ratio as markers for citrin deficiency in positive cases of newborn screening. 62
35242568 2022
27
[Analysis of SLC25A13 gene variants in 16 infants with intrahepatic cholestasis caused by citrin protein deficiency]. 62
35076907 2022
28
Dynamic changes of metabolic characteristics in neonatal intrahepatic cholestasis caused by citrin deficiency. 62
36090036 2022
29
Application of the Artificial Intelligence Algorithm Model for Screening of Inborn Errors of Metabolism. 62
35664874 2022
30
Physical and neuropsychological development of children with Citrin deficiency. 62
34911610 2021
31
In-house multiplex ligation-dependent probe amplification assay for citrin deficiency: analytical validation and novel exonic deletions in SLC25A13. 62
34045052 2021
32
Citrin deficiency: Does the reactivation of liver aralar-1 come into play and promote HCC development? 62
34228977 2021
33
Genetic landscape of recessive diseases in the Vietnamese population from large-scale clinical exome sequencing. 62
34233069 2021
34
Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency with SLC25A13 Mutation Presenting Hepatic Steatosis and Prolonged Jaundice. A Rare Case Report. 62
34684069 2021
35
Food Preferences of Patients with Citrin Deficiency. 62
34579000 2021
36
Clinical characteristics and genetic analysis of neonatal intrahepatic cholestasis caused by citrin deficiency in comparison with idiopathic neonatal cholestasis. 62
34704407 2021
37
Screening for neonatal inherited metabolic disorders by tandem mass spectrometry in Guangzhou. 62
34704419 2021
38
Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age. 62
33861477 2021
39
Citrin deficiency: Early severe cases in a European country. 62
33386245 2021
40
Molecular epidemiologic study of citrin deficiency by screening for four reported pathogenic SLC25A13 variants in the Shaanxi and Guangdong provinces, China. 62
34295780 2021
41
Citrin deficiency – pathogenesis, clinical and biochemical manifestation, diagnostics, treatment 62
34378890 2021
42
Analysis of daily energy, protein, fat, and carbohydrate intake in citrin-deficient patients: Towards prevention of adult-onset type II citrullinemia. 62
33741270 2021
43
Neonatal intrahepatic cholestasis caused by citrin deficiency with no hepatic steatosis: a case report. 62
34006251 2021
44
Hemostatic rebalance in neonatal intrahepatic cholestasis with citrin deficiency. 62
33851467 2021
45
Identification of rare variants causing urea cycle disorders: A clinical, genetic, and biophysical study. 62
33611823 2021
46
Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency: In vivo and in vitro studies of the aberrant transcription arising from two novel splice-site variants in SLC25A13. 62
33497767 2021
47
[Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis]. 62
33476544 2021
48
Metabolic basis and treatment of citrin deficiency. 62
32740958 2021
49
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population. 62
33514801 2021
50
Adult-onset citrullinaemia type II with liver cirrhosis: A rare cause of hyperammonaemia. 62
33817322 2021

Variations for Citrullinemia, Type Ii, Neonatal-Onset

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

5 (show all 37)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC25A13 NM_014251.3(SLC25A13):c.495del (p.Ala166fs) DEL Pathogenic
252924 rs879255504 GRCh37: 7:95822469-95822469
GRCh38: 7:96193157-96193157
2 SLC25A13 NM_014251.3(SLC25A13):c.1664_1665insAGATTACAGGTGGCTGCCCGGGG (p.Gln556fs) MICROSAT Pathogenic
590803 rs1562774655 GRCh37: 7:95751236-95751237
GRCh38: 7:96121924-96121925
3 SLC25A13 NM_014251.3(SLC25A13):c.493C>T (p.Gln165Ter) SNV Pathogenic
590804 rs1562831765 GRCh37: 7:95822471-95822471
GRCh38: 7:96193159-96193159
4 SLC25A13 NM_014251.3(SLC25A13):c.69+5G>A SNV Pathogenic
984437 GRCh37: 7:95926205-95926205
GRCh38: 7:96296893-96296893
5 SLC25A13 NM_014251.3(SLC25A13):c.775C>T (p.Gln259Ter) SNV Pathogenic
252920 rs746155190 GRCh37: 7:95818966-95818966
GRCh38: 7:96189654-96189654
6 SLC25A13 NM_014251.3(SLC25A13):c.1453-1G>A SNV Pathogenic
850244 rs1792048079 GRCh37: 7:95761194-95761194
GRCh38: 7:96131882-96131882
7 SLC25A13 NM_014251.3(SLC25A13):c.1474C>T (p.Arg492Trp) SNV Pathogenic
1706616 GRCh37: 7:95761172-95761172
GRCh38: 7:96131860-96131860
8 SLC25A13 NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) DEL Pathogenic
225472 rs80338720 GRCh37: 7:95818684-95818687
GRCh38: 7:96189372-96189375
9 SLC25A13 NM_014251.3(SLC25A13):c.1177+1G>A SNV Pathogenic
6002 rs80338722 GRCh37: 7:95813588-95813588
GRCh38: 7:96184276-96184276
10 SLC25A13 NM_014251.3(SLC25A13):c.1799dup (p.Tyr600Ter) DUP Pathogenic
6006 rs80338726 GRCh37: 7:95751008-95751009
GRCh38: 7:96121696-96121697
11 SLC25A13 NM_014251.3(SLC25A13):c.615+5G>A SNV Pathogenic
21517 rs80338717 GRCh37: 7:95822344-95822344
GRCh38: 7:96193032-96193032
12 SLC25A13 NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs) DUP Pathogenic
6003 rs80338725 GRCh37: 7:95751240-95751241
GRCh38: 7:96121928-96121929
13 SLC25A13 NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter) SNV Pathogenic
6004 rs80338719 GRCh37: 7:95820501-95820501
GRCh38: 7:96191189-96191189
14 SLC25A13 NM_014251.3(SLC25A13):c.1231G>A (p.Val411Met) SNV Likely Pathogenic
813455 rs768922690 GRCh37: 7:95799437-95799437
GRCh38: 7:96170125-96170125
15 SLC25A13 NM_014251.3(SLC25A13):c.468+1G>C SNV Likely Pathogenic
417947 rs1060499612 GRCh37: 7:95838149-95838149
GRCh38: 7:96208837-96208837
16 SLC25A13 NM_014251.3(SLC25A13):c.1505C>T (p.Pro502Leu) SNV Likely Pathogenic
252921 rs139149160 GRCh37: 7:95761141-95761141
GRCh38: 7:96131829-96131829
17 SLC25A13 NM_014251.3(SLC25A13):c.1336A>C (p.Thr446Pro) SNV Likely Pathogenic
813454 rs200237622 GRCh37: 7:95775984-95775984
GRCh38: 7:96146672-96146672
18 SLC25A13 NM_014251.3(SLC25A13):c.1121del (p.Ser374fs) DEL Likely Pathogenic
813456 rs1584422832 GRCh37: 7:95813645-95813645
GRCh38: 7:96184333-96184333
19 SLC25A13 NM_014251.3(SLC25A13):c.699del (p.Arg234fs) DEL Likely Pathogenic
813457 rs1584433525 GRCh37: 7:95820476-95820476
GRCh38: 7:96191164-96191164
20 SLC25A13 NM_014251.3(SLC25A13):c.185G>A (p.Ser62Asn) SNV Uncertain Significance
596568 rs577901657 GRCh37: 7:95906535-95906535
GRCh38: 7:96277223-96277223
21 SLC25A13 NM_014251.3(SLC25A13):c.73G>A (p.Ala25Thr) SNV Uncertain Significance
1209794 GRCh37: 7:95906647-95906647
GRCh38: 7:96277335-96277335
22 SLC25A13 NM_014251.3(SLC25A13):c.1311C>T (p.Cys437=) SNV Uncertain Significance
252922 rs879255502 GRCh37: 7:95799357-95799357
GRCh38: 7:96170045-96170045
23 SLC25A13 NM_014251.3(SLC25A13):c.1958A>G (p.Lys653Arg) SNV Uncertain Significance
252919 rs879255501 GRCh37: 7:95750573-95750573
GRCh38: 7:96121261-96121261
24 SLC25A13 NM_014251.3(SLC25A13):c.616-11A>G SNV Uncertain Significance
252923 rs879255503 GRCh37: 7:95820570-95820570
GRCh38: 7:96191258-96191258
25 SLC25A13 NM_014251.3(SLC25A13):c.1267G>A (p.Asp423Asn) SNV Uncertain Significance
587600 rs553863381 GRCh37: 7:95799401-95799401
GRCh38: 7:96170089-96170089
26 SLC25A13 NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala) SNV Uncertain Significance
203938 rs148962110 GRCh37: 7:95750621-95750621
GRCh38: 7:96121309-96121309
27 SLC25A13 NM_014251.3(SLC25A13):c.1275G>A (p.Ser425=) SNV Uncertain Significance
361018 rs376416252 GRCh37: 7:95799393-95799393
GRCh38: 7:96170081-96170081
28 SLC25A13 NM_014251.3(SLC25A13):c.1420G>A (p.Val474Met) SNV Uncertain Significance
967116 rs554809009 GRCh37: 7:95775900-95775900
GRCh38: 7:96146588-96146588
29 SLC25A13 NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=) SNV Benign
260370 rs2301629 GRCh37: 7:95800820-95800820
GRCh38: 7:96171508-96171508
30 SLC25A13 NM_014251.3(SLC25A13):c.328+6A>G SNV Benign
260371 rs6957975 GRCh37: 7:95864108-95864108
GRCh38: 7:96234796-96234796
31 SLC25A13 NM_014251.3(SLC25A13):c.1064G>A (p.Arg355Gln) SNV Not Provided
92110 rs398122839 GRCh37: 7:95813702-95813702
GRCh38: 7:96184390-96184390
32 SLC25A13 NM_014251.3(SLC25A13):c.1592G>A (p.Gly531Asp) SNV Not Provided
21509 rs80338724 GRCh37: 7:95751309-95751309
GRCh38: 7:96121997-96121997
33 SLC25A13 NM_014251.3(SLC25A13):c.15G>A (p.Lys5=) SNV Not Provided
21510 rs80338715 GRCh37: 7:95951254-95951254
GRCh38: 7:96321942-96321942
34 SLC25A13 NM_014251.3(SLC25A13):c.1801G>A (p.Glu601Lys) SNV Not Provided
Not Provided
21512 rs80338727 GRCh37: 7:95751007-95751007
GRCh38: 7:96121695-96121695
35 SLC25A13 NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter) SNV Not Provided
21514 rs80338729 GRCh37: 7:95750995-95750995
GRCh38: 7:96121683-96121683
36 SLC25A13 NM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter) SNV Not Provided
21515 rs80338716 GRCh37: 7:95822414-95822414
GRCh38: 7:96193102-96193102
37 SLC25A13 NM_014251.3(SLC25A13):c.615+1G>C SNV Not Provided
21516 rs80338718 GRCh37: 7:95822348-95822348
GRCh38: 7:96193036-96193036

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

Cellular components related to Citrullinemia, Type Ii, Neonatal-Onset according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 obsolete integral component of Golgi membrane GO:0030173 8.62 CASD1 BET1

Sources for Citrullinemia, Type Ii, Neonatal-Onset

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....