MCID: CTR001
MIFTS: 58

Citrullinemia malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Citrullinemia

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Aliases & Descriptions for Citrullinemia:

Name: Citrullinemia 49 10 11 23 47 12 36 65
Ass Deficiency 10 21 45 22 51 67
Argininosuccinate Synthetase Deficiency 21 45 22 51 67
Citrullinemia Type I 21 45 22 51 67
Ctln1 21 22 51 67
Argininosuccinic Acid Synthetase Deficiency 21 22 51
Classic Citrullinemia 45 51 67
Citrullinuria 45 23 67
Citrullinemia, Classic 21 22
 
Citrullinemia Type 1 51 24
Citrullinemia 1 45 67
Ctnl1 45 65
Cit 23 2
Argininosuccinic Acid Synthase Deficiency 51
Deficiency of Citrulline-Aspartate Ligase 10
Argininosuccinate Synthase Deficiency 51
Classical Citrullinemia 22
Citrullinemia Classical 47

Characteristics:

Orphanet epidemiological data:

51
ass deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages

HPO:

61
citrullinemia:
Onset and clinical course: phenotypic variability, neonatal onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 215700
Disease Ontology10 DOID:9273
ICD1027 E72.23
MeSH36 D020159
NCIt42 C84639
Orphanet51 247525
ICD10 via Orphanet28 E72.2
MedGen34 C0175683
UMLS65 C0175683, C2931851

Summaries for Citrullinemia

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CDC:2 The Countermeasure Inventory Tracking (CIT) Dashboard is a national system used by federal and state emergency response authorities, which provides the ability to track the availability of critical medical and non-medical countermeasures within the commercial drug sector as well as state public health agencies during public health emergencies. By receiving timely data on inventory and distribution of key pharmaceuticals and medical supplies, CDC will be better prepared to ensure that critical countermeasures reach vulnerable populations during an emergency. Voluntary participation of pharmaceutical and medical equipment suppliers is essential to successful planning for events that may impact our national future.

MalaCards based summary: Citrullinemia, also known as ass deficiency, is related to citrullinemia, type ii, neonatal-onset and carbamoylphosphate synthetase i deficiency, and has symptoms including stroke, hypoargininemia and oroticaciduria. An important gene associated with Citrullinemia is ASS1 (Argininosuccinate Synthase 1), and among its related pathways are Alanine, aspartate and glutamate metabolism and Arginine biosynthesis. Affiliated tissues include liver, bone and prostate, and related mouse phenotypes are renal/urinary system and liver/biliary system.

Disease Ontology:10 An urea cycle disorder that involves the accumulation of ammonia in the blood.

Genetics Home Reference:23 Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. Two forms of citrullinemia have been described; they have different signs and symptoms and are caused by mutations in different genes.

NIH Rare Diseases:45 Citrullinemia type i is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. this condition, also known as classic citrullinemia, belongs to a class of genetic diseases called urea cycle disorders. in most cases, the condition becomes evident in the first few days of life. affected infants typically appear normal at birth, but as ammonia builds up in the body they experience a progressive lack of energy (lethargy), poor feeding, vomiting, seizures, and loss of consciousness. citrullinemia type i is caused by mutations in the ass1 gene. it is inherited in an autosomal recessive pattern. last updated: 4/20/2010

UniProtKB/Swiss-Prot:67 Citrullinemia 1: The classic form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. It is a disorder of the urea cycle, usually manifesting in the first few days of life. Affected infants appear normal at birth, but as ammonia builds up in the body they present symptoms such as lethargy, poor feeding, vomiting, seizures and loss of consciousness. Less commonly, a milder form can develop later in childhood or adulthood.

Wikipedia:68 Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic... more...

Description from OMIM:49 215700

GeneReviews summary for NBK1458

Related Diseases for Citrullinemia

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Diseases in the Citrullinemia family:

Citrullinemia, Adult-Onset Type Ii Adult-Onset Citrullinemia Type I

Diseases related to Citrullinemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 183)
idRelated DiseaseScoreTop Affiliating Genes
1citrullinemia, type ii, neonatal-onset34.2ASS1, SLC25A13
2carbamoylphosphate synthetase i deficiency30.4ASS1, OTC
3citrullinemia, adult-onset type ii12.7
4acute neonatal citrullinemia type i12.4
5adult-onset citrullinemia type i12.4
6argininosuccinic aciduria11.6
7schizophrenia11.5
8neonatal intrahepatic cholestasis due to citrin deficiency11.3
9argininemia10.3
10ornithine transcarbamylase deficiency10.3
11alopecia10.2
12prostatitis10.2
13adenocarcinoma10.2
14pancreatitis10.2
15neuronitis10.2
16endotheliitis10.2
17myocardial infarction10.1
18lung cancer10.1
19breast cancer10.1
20obesity10.1
21arthritis10.1
22crohn's disease10.1
23disseminated intravascular coagulation10.1
24ornithosis10.1
25heart disease10.1
26tuberculosis10.1
27thyroiditis10.1
28stomatitis10.1
29nonseminomatous germ cell tumor10.1
30aceruloplasminemia10.1ACADS, SLC25A13
31y-linked disease10.1ASS1, SLC25A13
32long qt syndrome 610.0PC, SLC25A13
33colorectal cancer9.9
34medulloblastoma9.9
35systemic lupus erythematosus9.9
36malaria9.9
37hiv-19.9
38prostate cancer9.9
39fibrodysplasia ossificans progressiva9.9
40sudden infant death syndrome9.9
41glucocorticoid resistance9.9
42williams-beuren syndrome9.9
43pendred syndrome9.9
44chondrosarcoma9.9
45legg-calve-perthes disease9.9
46retinoblastoma9.9
47endometrial cancer9.9
48pancreatic cancer9.9
49kindler syndrome9.9
50cerebral amyloid angiopathy9.9

Graphical network of the top 20 diseases related to Citrullinemia:



Diseases related to citrullinemia

Symptoms for Citrullinemia

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Symptoms by clinical synopsis from OMIM:

215700

Clinical features from OMIM:

215700

HPO human phenotypes related to Citrullinemia:

(show all 19)
id Description Frequency HPO Source Accession
1 stroke rare (5%) HP:0001297
2 hypoargininemia HP:0005961
3 oroticaciduria HP:0003218
4 hyperglutaminemia HP:0003217
5 hepatomegaly HP:0002240
6 cerebral edema HP:0002181
7 protein avoidance HP:0002038
8 vomiting HP:0002013
9 hyperammonemia HP:0001987
10 episodic ammonia intoxication HP:0001951
11 respiratory alkalosis HP:0001950
12 failure to thrive HP:0001508
13 global developmental delay HP:0001263
14 coma HP:0001259
15 lethargy HP:0001254
16 ataxia HP:0001251
17 seizures HP:0001250
18 intellectual disability HP:0001249
19 irritability HP:0000737

Drugs & Therapeutics for Citrullinemia

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Drugs for Citrullinemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Acetohydroxamic AcidapprovedPhase 1, Phase 21546-88-31990
Synonyms:
00507_FLUKA
159034_ALDRICH
546-88-3
A0051
AC1L1COH
AC1Q1L7G
AHA
AI3-62232
AKOS000172340
Acetamide, N-hydroxy- (9CI)
Acethydroxamic acid
Acethydroxamsaeure
Acethydroxamsaeure [German]
Acethydroxamsaure
Acetic acid, oxime
Acetohydroxamate
Acetohydroxamic acid
Acetohydroxamic acid (USP/INN)
Acetohydroxamic acid [USAN:INN]
Acetohydroximic acid
Acetyl hydroxyamino
Acetylhydroxamic acid
Acide acetohydroxamique
Acide acetohydroxamique [French]
Acido acetohidroxamico
Acido acetohidroxamico [Spanish]
Acidum acetohydroxamicum
Acidum acetohydroxamicum [Latin]
BSPBio_001790
C06808
CCRIS 1730
CHEBI:27777
CHEBI:49029
CHEMBL734
CID1990
Cetohyroxamic acid
D00220
DB00551
DivK1c_000821
EINECS 208-913-8
HAE
HMS1920A07
HMS2091G07
 
HMS502J03
HSDB 3585
I08-0057
IDI1_000821
KBio1_000821
KBio2_000360
KBio2_002928
KBio2_005496
KBio3_001290
KBioGR_000556
KBioSS_000360
LS-13067
Lithostat
Lithostat (TN)
MLS001076662
Methylhydroxamic acid
MolPort-001-769-610
N-Acetyl hydroxyacetamide
N-Acetylhydroxylamine
N-Hydroxyacetamide
N-hydroxyacetimidic acid
N-hydroxyethanimidic acid
NCGC00094576-01
NCGC00094576-02
NCGC00094576-03
NINDS_000821
NSC 176136
NSC176136
NSC5073
Prestwick_38
S14-0751
SMR000499570
SPBio_000098
SPECTRUM1500103
Spectrum2_000109
Spectrum3_000285
Spectrum4_000138
Spectrum5_000812
Spectrum_000020
UNII-4RZ82L2GY5
WLN: QMV1
ZINC04658603
acetohydroxamic acid
cetohyroxamic acid
sJX`HLdmMAH`
2
Ornithineapproved, nutraceuticalPhase 2, Phase 16370-26-86262
Synonyms:
(+)-S-Ornithine
(S)-2,5-Diaminopentanoate
(S)-2,5-Diaminopentanoic acid
(S)-2,5-diaminovaleric acid
(S)-Ornithine
(S)-a,D-Diaminovalerate
 
(S)-a,D-Diaminovaleric acid
(S)-alpha,delta-Diaminovaleric acid
(S)-ornithine
(S)-α,δ-diaminovaleric acid
5-Amino-L-Norvaline
L-(-)-Ornithine
L-Ornithine
3Liver ExtractsPhase 2, Phase 13572
4
Nitric Oxideapproved56410102-43-9145068
Synonyms:
(.)NO
(NO)(.)
10102-43-9
14332-28-6
295566_ALDRICH
51005-20-0
51005-21-1
53851-19-7
90452-29-2
AC1L1ADQ
AC1L3QHF
AC1Q6QZ0
AR-1K7463
Bioxyde d'azote
Bioxyde d'azote [French]
C00533
CCRIS 4319
CHEMBL1200689
CHEMBL1234765
CID145068
CID945
D00074
D009569
DB00435
EDRF
EINECS 233-271-0
Endogenous Nitrate Vasodilator
Endothelium-Derived Nitric Oxide
HNO
HSDB 1246
INOmax
INOmax (TN)
Inomax
LS-192158
LS-7547
MolPort-003-929-452
Mononitrogen monoxide
Monoxide, Mononitrogen
Monoxide, Nitrogen
Monoxido de nitrogeno
Monoxyde d'azote
NITRIC-OXIDE
NO
NO(.)
Nitrate Vasodilator, Endogenous
Nitric Oxide, Endothelium Derived
 
Nitric Oxide, Endothelium-Derived
Nitric oxide
Nitric oxide (JAN)
Nitric oxide 10% by volume or more
Nitric oxide trimer
Nitric oxide, compressed [UN1660] [Poison gas]
Nitric oxide, compressed [UN1660] [Poison gas]
Nitrogen monoxide
Nitrogen oxide
Nitrogen oxide (NO)
Nitrogen protoxide
Nitrosyl
Nitrosyl hydride
Nitrosyl hydride ((NO)H)
Nitrosyl radical
Nitroxide radical
Nitroxyl
OHM 11771
Oxide, Nitric
Oxido de nitrogeno(ii)
Oxido nitrico
Oxyde azotique
Oxyde nitrique
Oxyde nitrique [French]
RCRA waste no. P076
Stickmonoxyd
Stickmonoxyd [German]
Stickstoff(II)-oxid
Stickstoff(ii)-oxid
Stickstoffmonoxid
UN 1660
UN1660
UNII-31C4KY9ESH
Vasodilator, Endogenous Nitrate
[NO]
endothelium-derived relaxing factor
monoxido de nitrogeno
monoxyde d'azote
nitric oxide
nitrogen monooxide
nitrogen monoxide
nitrosyl
oxido de nitrogeno(II)
oxido nitrico
oxidonitrogen(.)
oxoazanyl
oxyde azotique
5Peripheral Nervous System Agents18510
6Vasodilator Agents2926
7Respiratory System Agents3931
8Protective Agents5651
9Endothelium-Dependent Relaxing Factors225
10Anti-Asthmatic Agents2796
11Antioxidants2442
12Neurotransmitter Agents14795
13Bronchodilator Agents2377
14Vaccines6085
15arginineNutraceutical364

Interventional clinical trials:

idNameStatusNCT IDPhase
1Human Heterologous Liver Cells for Infusion in Children With Urea Cycle DisordersCompletedNCT00718627Phase 2
2Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young InfantsCompletedNCT01624311Phase 2
3Urease Inhibitor Drug Treatment for Urea Cycle DisordersNot yet recruitingNCT02670889Phase 1, Phase 2
4Hepatocyte Transplantation for Liver Based Metabolic DisordersSuspendedNCT01345578Phase 1
5Nitric Oxide Flux and Ureagenesis in Argininosuccinate Synthetase Deficiency (ASSD)(Citrullinemia I)CompletedNCT01610089
6Microcirculation During Extracorporeal CirculationCompletedNCT01389947
7Citrulline Allo. Evaluation of Citrullinemia as a Marker of Bowel Damage After Allogeneic Bone Marrow Transplantation in ChildrenRecruitingNCT00751452
8The NIH UNI Study: Urea Cycle Disorders, Nutrition and ImmunityTerminatedNCT01421888

Search NIH Clinical Center for Citrullinemia


Cochrane evidence based reviews: citrullinemia

Genetic Tests for Citrullinemia

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Genetic tests related to Citrullinemia:

id Genetic test Affiliating Genes
1 Citrullinemia Type I22 ASS1

Anatomical Context for Citrullinemia

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MalaCards organs/tissues related to Citrullinemia:

33
Liver, Bone, Prostate, Breast, Endothelial, Bone marrow, Lung

Animal Models for Citrullinemia or affiliated genes

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MGI Mouse Phenotypes related to Citrullinemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.6ACADS, ASL, OTC, SLC25A13
2MP:00053708.5ACADS, OTC, PPARA, SLC25A13
3MP:00053868.1ACADS, ASL, ASS1, OTC, PC
4MP:00107718.0ACADS, ASL, ASS1, OTC, PPARA
5MP:00107686.7ACADS, ASL, ASS1, OTC, PC, PPARA
6MP:00053766.4ACADS, ASL, ASS1, OTC, PC, PPARA

Publications for Citrullinemia

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Articles related to Citrullinemia:

(show top 50)    (show all 189)
idTitleAuthorsYear
1
Secondary syphilis in the oral cavity and the role of the dental surgeon in STD prevention, diagnosis and treatment: a case series study. (27208390)
2016
2
Acute eosinophilic pneumonia associated with glyphosate-surfactant exposure. (26278698)
2015
3
Epicardial adipose excision slows the progression of porcine coronary atherosclerosis. (24387639)
2014
4
Malignant giant cell tumor of the rib with lung metastasis in a man. (25276374)
2014
5
Exon 9 skipping of apoptotic caspase-2 pre-mRNA is promoted by SRSF3 through interaction with exon 8. (24321384)
2014
6
Elevated preoperative platelet to lymphocyte ratio associated with decreased survival of women with ovarian clear cell carcinoma. (25605185)
2014
7
Inositol pyrophosphates regulate JMJD2C-dependent histone demethylation. (24191012)
2013
8
Nutrition and the biology of human ageing: bone health and osteoporosis / sarcopenia / immune deficiency. (24097029)
2013
9
Direct role for the replication protein treslin (Ticrr) in the ATR kinase-mediated checkpoint response. (23696651)
2013
10
Photodynamic therapy in actinic cheilitis: clinical and anatomopathological evaluation of 19 patients. (22714758)
2012
11
Control of human hematopoietic stem/progenitor cell migration by the extracellular matrix protein Slit3. (22614124)
2012
12
A rare case of Silver-Russell syndrome associated with growth hormone deficiency and urogenital abnormalities. (23565409)
2012
13
Hemangioblastic characteristics of cancer stem cells in chronic myeloid leukemia. (22997961)
2012
14
Vaughan-Jackson-like syndrome as an unusual presentation of KienbAPck's disease: a case report. (21787412)
2011
15
Vaccinia virus L2 protein associates with the endoplasmic reticulum near the growing edge of crescent precursors of immature virions and stabilizes a subset of viral membrane proteins. (21917978)
2011
16
Analysis of the effect of serum interleukin-6 (IL-6) and soluble IL-6 receptor levels on survival of patients with colorectal cancer. (20194250)
2010
17
Clinicopathologic significance of CD105-assessed microvessel density in glottic laryngeal squamous cell carcinoma. (19553039)
2010
18
A case of pilomyxoid astrocytoma presenting with CSF rhinorrhoea in a 15-year-old. (19718549)
2009
19
Curcumin inhibits prosurvival pathways in chronic lymphocytic leukemia B cells and may overcome their stromal protection in combination with EGCG. (19228728)
2009
20
Serum levels of interleukin-6, tumor necrosis factor-alpha and interferon-gamma in infants with and without dengue. (18368263)
2008
21
Structural and functional analysis of domains mediating interaction between the bagpipe homologue, Nkx3.1 and serum response factor. (18296735)
2008
22
Natural isoprenoids are able to reduce inflammation in a mouse model of mevalonate kinase deficiency. (18391837)
2008
23
Liver enzyme levels in relation to a common polymorphism in the CD14 promoter gene. (17273008)
2007
24
Polymorphisms of tumor necrosis factor-alpha but not MDR1 influence response to medical therapy in pediatric-onset inflammatory bowel disease. (17255827)
2007
25
Intertwin discordance in umbilical venous volume flow: a reflection of blood volume imbalance in twin-to-twin transfusion syndrome. (17323309)
2007
26
Lentiviral-mediated gene transfer of brain-derived neurotrophic factor is neuroprotective in a mouse model of neonatal excitotoxic challenge. (16299771)
2006
27
Interphase FISH analysis of PTEN in histologic sections shows genomic deletions in 68% of primary prostate cancer and 23% of high-grade prostatic intra-epithelial neoplasias. (16938570)
2006
28
Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. (16325696)
2005
29
Epidermal nevus syndromes: clinical findings in 35 patients. (15283784)
2004
30
A case of warfarin skin necrosis despite enoxaparin anticoagulation in a patient with protein S deficiency. (15253263)
2004
31
Human protease-activated receptor 1 expression in malignant epithelia: a role in invasiveness. (12637343)
2003
32
Expression of peripheral benzodiazepine receptor (PBR) in human tumors: relationship to breast, colorectal, and prostate tumor progression. (14626449)
2003
33
Neuropsychiatric aspects of Sotos syndrome. A review and two case illustrations. (11942428)
2002
34
Sydenham's chorea--clinical and evolutive characteristics. (11836548)
2002
35
Effect of familial Parkinson's disease point mutations A30P and A53T on the structural properties, aggregation, and fibrillation of human alpha-synuclein. (11560511)
2001
36
Spermatocele in a common noctule (Nyctalus noctula). (10638800)
1999
37
Mycobacterium fortuitum otitis media. (9419126)
1997
38
NMDA and D1 receptors regulate the phosphorylation of CREB and the induction of c-fos in striatal neurons in primary culture. (9068120)
1997
39
CYP26, a novel mammalian cytochrome P450, is induced by retinoic acid and defines a new family. (9228041)
1997
40
Kinetics of Tc-99m sestamibi and Tc-99m tetrofosmin in a case of parathyroid adenoma. (8879870)
1996
41
A monoclonal antibody recognizing CD43 (leukosialin) initiates apoptosis of human hematopoietic progenitor cells but not stem cells. (8608215)
1996
42
Percutaneous transluminal angioplasty for renovascular hypertension 9 years after hypoplastic kidney transplantation: report of a case. (8658800)
1996
43
Structure and organization of the gene encoding human pulmonary surfactant proteolipid SP-B. (2924687)
1989
44
Three-day treatment of vulvovaginal candidiasis. (3364485)
1988
45
Diabetes mellitus in ataxia-telangiectasia, Fanconi anemia, xeroderma pigmentosum, common variable immune deficiency, and severe combined immune deficiency families. (3943665)
1986
46
Analysis of DR-beta and DQ-beta chain cDNA clones from a DR7 haplotype. (3020127)
1986
47
Mesangial proliferative glomerulonephritis with irregular intramembranous deposits. Another variant of hypocoplementemic nephritis. (331950)
1977
48
The evolution of keratomalacia. (5255226)
1967
49
50

Variations for Citrullinemia

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UniProtKB/Swiss-Prot genetic disease variations for Citrullinemia:

67 (show all 62)
id Symbol AA change Variation ID SNP ID
1ASS1p.Gly14SerVAR_000681
2ASS1p.Ser18LeuVAR_000682
3ASS1p.Arg86CysVAR_000683
4ASS1p.Ala118ThrVAR_000684
5ASS1p.Arg157HisVAR_000685
6ASS1p.Ser180AsnVAR_000686
7ASS1p.Ala192ValVAR_000687
8ASS1p.Arg272CysVAR_000688
9ASS1p.Gly280ArgVAR_000689
10ASS1p.Arg304TrpVAR_000690
11ASS1p.Gly324SerVAR_000691
12ASS1p.Arg363LeuVAR_000692
13ASS1p.Arg363TrpVAR_000693
14ASS1p.Gly390ArgVAR_000694
15ASS1p.Cys19ArgVAR_015891
16ASS1p.Arg86HisVAR_015892
17ASS1p.Arg95SerVAR_015893
18ASS1p.Pro96SerVAR_015894
19ASS1p.Gly117SerVAR_015895
20ASS1p.Gly117AspVAR_015896
21ASS1p.Arg157CysVAR_015897
22ASS1p.Trp179ArgVAR_015898rs121908646
23ASS1p.Glu191LysVAR_015899
24ASS1p.Arg265HisVAR_015900
25ASS1p.Val269MetVAR_015901
26ASS1p.Glu283LysVAR_015902
27ASS1p.Lys310ArgVAR_015903
28ASS1p.Gly362ValVAR_015904
29ASS1p.Glu270GlnVAR_016007
30ASS1p.Arg279GlnVAR_016008
31ASS1p.Lys310GlnVAR_016009
32ASS1p.Arg363GlyVAR_016010
33ASS1p.Arg363GlnVAR_016011
34ASS1p.Thr389IleVAR_016012
35ASS1p.Val69AlaVAR_016013
36ASS1p.Arg108LeuVAR_016014rs35269064
37ASS1p.Thr119IleVAR_016015
38ASS1p.Gln40LeuVAR_058337
39ASS1p.Ser79ProVAR_058338
40ASS1p.Pro96HisVAR_058339
41ASS1p.Asp124AsnVAR_058340
42ASS1p.Arg127GlnVAR_058341
43ASS1p.Arg127TrpVAR_058342
44ASS1p.Leu160ProVAR_058343
45ASS1p.Tyr190AspVAR_058344
46ASS1p.Glu191GlnVAR_058345
47ASS1p.Ala202GluVAR_058346
48ASS1p.Leu206ProVAR_058347
49ASS1p.Val263MetVAR_058348rs192838388
50ASS1p.Arg265CysVAR_058349
51ASS1p.Lys277ThrVAR_058350
52ASS1p.Thr284IleVAR_058351
53ASS1p.Tyr291SerVAR_058352
54ASS1p.Asp296GlyVAR_058353
55ASS1p.Met302ValVAR_058354
56ASS1p.Arg307CysVAR_058355rs183276875
57ASS1p.Gly324ValVAR_058356
58ASS1p.Ser341PheVAR_058357
59ASS1p.Val345GlyVAR_058358
60ASS1p.Gly347ArgVAR_058359
61ASS1p.Tyr359AspVAR_058360
62ASS1p.Val141GlyVAR_072792

Clinvar genetic disease variations for Citrullinemia:

5 (show all 29)
id Gene Variation Type Significance SNP ID Assembly Location
1ASS1NM_000050.4(ASS1): c.1194-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs727503814GRCh37Chr 9, 133376362: 133376362
2ASS1NM_000050.4(ASS1): c.1138C> T (p.Gln380Ter)single nucleotide variantLikely pathogenicrs786204460GRCh37Chr 9, 133374902: 133374902
3ASS1NM_000050.4(ASS1): c.892delG (p.Glu298Argfs)deletionLikely pathogenicrs770362721GRCh37Chr 9, 133364773: 133364773
4ASS1NM_000050.4(ASS1): c.1030C> T (p.Arg344Ter)single nucleotide variantLikely pathogenic, Pathogenicrs786204537GRCh37Chr 9, 133370313: 133370313
5ASS1NM_000050.4(ASS1): c.450_451delCT (p.Phe150Leufs)deletionLikely pathogenicrs786204648GRCh38Chr 9, 130466754: 130466755
6ASS1NM_000050.4(ASS1): c.421-2A> Gsingle nucleotide variantPathogenicrs751930594GRCh37Chr 9, 133342110: 133342110
7ASS1NM_000050.4(ASS1): c.571G> A (p.Glu191Lys)single nucleotide variantPathogenicrs777828000GRCh37Chr 9, 133346876: 133346876
8ASS1ASS1, EX5DELdeletionPathogenic
9ASS1ASS1, EX6DELdeletionPathogenic
10ASS1ASS1, IVS6AS, A-G, -2deletionPathogenic
11ASS1NM_000050.4(ASS1): c.40G> A (p.Gly14Ser)single nucleotide variantPathogenicrs121908636GRCh37Chr 9, 133327655: 133327655
12ASS1NM_000050.4(ASS1): c.470G> A (p.Arg157His)single nucleotide variantPathogenicrs121908637GRCh37Chr 9, 133342161: 133342161
13ASS1NM_000050.4(ASS1): c.539G> A (p.Ser180Asn)single nucleotide variantPathogenicrs121908638GRCh37Chr 9, 133346264: 133346264
14ASS1NM_000050.4(ASS1): c.970G> A (p.Gly324Ser)single nucleotide variantLikely pathogenic, Pathogenicrs121908639GRCh37Chr 9, 133364851: 133364851
15ASS1NM_000050.4(ASS1): c.1087C> T (p.Arg363Trp)single nucleotide variantLikely pathogenic, Pathogenicrs121908640GRCh37Chr 9, 133370370: 133370370
16ASS1NM_000050.4(ASS1): c.1168G> A (p.Gly390Arg)single nucleotide variantPathogenicrs121908641GRCh37Chr 9, 133374932: 133374932
17ASS1NM_000050.4(ASS1): c.910C> T (p.Arg304Trp)single nucleotide variantPathogenicrs121908642GRCh37Chr 9, 133364791: 133364791
18ASS1NM_000050.4(ASS1): c.53C> T (p.Ser18Leu)single nucleotide variantPathogenicrs121908643GRCh37Chr 9, 133327668: 133327668
19ASS1NM_000050.4(ASS1): c.256C> T (p.Arg86Cys)single nucleotide variantPathogenicrs121908644GRCh37Chr 9, 133333869: 133333869
20ASS1NM_000050.4(ASS1): c.835C> T (p.Arg279Ter)single nucleotide variantLikely pathogenic, Pathogenicrs121908645GRCh37Chr 9, 133355833: 133355833
21ASS1NM_000050.4(ASS1): c.323G> T (p.Arg108Leu)single nucleotide variantPathogenicrs35269064GRCh37Chr 9, 133333936: 133333936
22ASS1ASS1, IVS6, G-A, +5single nucleotide variantPathogenic
23ASS1ASS1, IVS15, G-C, -1single nucleotide variantPathogenic
24ASS1NM_000050.4(ASS1): c.928A> C (p.Lys310Gln)single nucleotide variantPathogenicrs121908648GRCh37Chr 9, 133364809: 133364809
25ASS1NM_000050.4(ASS1): c.496-2A> Gsingle nucleotide variantPathogenicrs398123130GRCh37Chr 9, 133346219: 133346219
26ASS1NM_000050.4(ASS1): c.787G> A (p.Val263Met)single nucleotide variantPathogenicrs192838388GRCh37Chr 9, 133355785: 133355785
27ASS1NM_000050.4(ASS1): c.793C> T (p.Arg265Cys)single nucleotide variantPathogenicrs148918985GRCh37Chr 9, 133355791: 133355791
28ASS1NM_000050.4(ASS1): c.794G> A (p.Arg265His)single nucleotide variantPathogenicrs398123131GRCh37Chr 9, 133355792: 133355792
29ASS1NM_000050.4(ASS1): c.836G> A (p.Arg279Gln)single nucleotide variantPathogenicrs371265106GRCh37Chr 9, 133355834: 133355834

Expression for genes affiliated with Citrullinemia

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Search GEO for disease gene expression data for Citrullinemia.

Pathways for genes affiliated with Citrullinemia

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GO Terms for genes affiliated with Citrullinemia

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Biological processes related to Citrullinemia according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1polyamine metabolic processGO:000659510.1ASL, OTC
2response to zinc ionGO:00100439.9ASS1, OTC
3negative regulation of leukocyte cell-cell adhesionGO:19030389.9ASS1, PPARA
4glucose metabolic processGO:00060069.4PC, SLC25A13
5cellular nitrogen compound metabolic processGO:00346419.3ASL, ASS1, OTC
6liver developmentGO:00018899.3ASS1, OTC
7small molecule metabolic processGO:00442818.1ASS1, PC, PPARA, SLC25A13

Sources for Citrullinemia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet