PedAM

Pediatric Disease Annotations & Medicines


	citrullinemia

Disease ID	128
Disease	citrullinemia
Definition	A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)
Synonym	argininosuccinase deficiency argininosuccinate synthase defic dis argininosuccinate synthase deficiency argininosuccinate synthase deficiency disease argininosuccinate synthetase deficiencies argininosuccinate synthetase deficiency argininosuccinic acid synthase defic dis argininosuccinic acid synthase deficiency disease argininosuccinic acid synthetase defic dis argininosuccinic acid synthetase deficiency argininosuccinic acid synthetase deficiency disease arginosuccinate synthetase deficiency asa synthase deficiency asas deficiency ass deficiencies ass deficiency citrullinaemia citrullinemia (disorder) citrullinemia 1 citrullinemia [disease/finding] citrullinemia type 1 citrullinemia type i citrullinemia, classic citrullinemia, type i citrullinemias citrullinemias, classic citrullinuria citrullinuria (finding) citrullinurias classic citrullinemia classic citrullinemias ctln1 defic dis argininosuccinate synthase defic dis argininosuccinic acid synthase deficiencies, argininosuccinate synthetase deficiencies, ass deficiency disease, argininosuccinate synthase deficiency disease, argininosuccinic acid synthase deficiency of argininosuccinate synthase deficiency of argininosuccinate synthase (disorder) deficiency of citrulline-aspartate ligase deficiency, argininosuccinate synthetase deficiency, ass type 1, citrullinemia
Orphanet	ORPHANET:187 ORPHANET:247525
OMIM	OMIM:215700 OMIM:207900
DOID	DOID:9273
ICD10	ICD10CM:E72.23
UMLS	C0175683
MeSH	D020159
SNOMED-CT	SNOMEDCT_US_2016_09_01:124711003;SNOMEDCT_US_2016_09_01:398680004;SNOMEDCT_US_2016_09_01:398630005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0019151 \| hepatic encephalopathy \| 1 C0014544 \| epilepsy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) SLC25A13 \| 10165 \| GHR ASS1 \| 445 \| CLINVAR;CTD_human;UNIPROT;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:35) 5009 \| OTC \| DISEASES 5250 \| SLC25A3 \| DISEASES 33 \| ACADL \| DISEASES 35 \| ACADS \| DISEASES 7389 \| UROD \| DISEASES 445 \| ASS1 \| DISEASES 2660 \| MSTN \| DISEASES 2184 \| FAH \| DISEASES 23531 \| MMD \| DISEASES 3004 \| GZMM \| DISEASES 1807 \| DPYS \| DISEASES 8659 \| ALDH4A1 \| DISEASES 112939 \| NACC1 \| DISEASES 162417 \| NAGS \| DISEASES 6690 \| SPINK1 \| DISEASES 3251 \| HPRT1 \| DISEASES 2720 \| GLB1 \| DISEASES 435 \| ASL \| DISEASES 51733 \| UPB1 \| DISEASES 3141 \| HLCS \| DISEASES 10166 \| SLC25A15 \| DISEASES 54496 \| PRMT7 \| DISEASES 37 \| ACADVL \| DISEASES 5625 \| PRODH \| DISEASES 8678 \| BECN1 \| DISEASES 116150 \| NUS1 \| DISEASES 1806 \| DPYD \| DISEASES 353 \| APRT \| DISEASES 3030 \| HADHA \| DISEASES 10157 \| AASS \| DISEASES 5091 \| PC \| DISEASES 831 \| CAST \| DISEASES 3778 \| KCNMA1 \| DISEASES 10165 \| SLC25A13 \| DISEASES 5053 \| PAH \| DISEASES
Locus	(Waiting for update.)

Disease ID	128
Disease	citrullinemia
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:20) HP:0002038 \| Protein avoidance HP:0000737 \| Irritability HP:0003217 \| Hyperglutaminemia HP:0001251 \| Ataxia HP:0001254 \| Lethargy HP:0003218 \| Oroticaciduria HP:0001950 \| Respiratory alkalosis HP:0005961 \| Low blood arginine levels HP:0001249 \| Mental retardation HP:0001394 \| Hepatic cirrhosis HP:0001297 \| Cerebral vascular events HP:0001259 \| Coma HP:0001250 \| Seizures HP:0001263 \| Developmental retardation HP:0002181 \| Cerebral edema HP:0001508 \| Weight faltering HP:0002240 \| Enlarged liver HP:0002013 \| Emesis HP:0001951 \| Episodic ammonia intoxication HP:0001987 \| Hyperammonemia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0002480 \| Hepatic encephalopathy \| 1

Disease ID	128
Disease	citrullinemia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C1963101 \| encephalopathy C0040517 \| tourette's syndrome C0019151 \| hepatic encephalopathy
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0019151 \| hepatic encephalopathy \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:29)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121908636	NA	445	ASS1	umls:C0175683	CLINVAR	NA	0.454396351	NA	ASS1	9	130452268	G	A
rs121908637	NA	445	ASS1	umls:C0175683	CLINVAR	NA	0.454396351	NA	ASS1	9	130466774	G	A
rs121908638	NA	445	ASS1	umls:C0175683	CLINVAR	NA	0.454396351	NA	ASS1	9	130470877	G	A
rs121908639	NA	445	ASS1	umls:C0175683	CLINVAR	NA	0.454396351	NA	ASS1	9	130489464	G	A
rs121908640	NA	445	ASS1	umls:C0175683	CLINVAR	NA	0.454396351	NA	ASS1;LOC105376294	9	130494983	C	T
rs121908640	21227727	445	ASS1	umls:C0175683	BeFree	Molecular analysis of the ASS1 gene confirmed the diagnosis of CTLN1 by revealing the known mutation c.1087C>T (p.R363W) on the paternal allele and an intronic nucleotide exchange leading to an insertion of 69 bp on the transcript resulting in a frameshift and premature stop of translation on the maternal allele.	0.454396351	2011	ASS1;LOC105376294	9	130494983	C	T
rs121908641	NA	445	ASS1	umls:C0175683	CLINVAR	NA	0.454396351	NA	ASS1;LOC105376294	9	130499545	G	A,T
rs121908642	NA	445	ASS1	umls:C0175683	CLINVAR	NA	0.454396351	NA	ASS1	9	130489404	C	T
rs121908643	NA	445	ASS1	umls:C0175683	CLINVAR	NA	0.454396351	NA	ASS1	9	130452281	C	T
rs121908644	NA	445	ASS1	umls:C0175683	CLINVAR	NA	0.454396351	NA	ASS1	9	130458482	C	T
rs121908645	NA	445	ASS1	umls:C0175683	CLINVAR	NA	0.454396351	NA	ASS1	9	130480446	C	T
rs121908646	14680976	445	ASS1	umls:C0175683	UNIPROT	Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).	0.454396351	2003	ASS1	9	130470873	T	C
rs121908648	NA	445	ASS1	umls:C0175683	CLINVAR	NA	0.454396351	NA	ASS1	9	130489422	A	C
rs148918985	NA	445	ASS1	umls:C0175683	CLINVAR	NA	0.454396351	NA	ASS1	9	130480404	C	T
rs183276875	19006241	445	ASS1	umls:C0175683	UNIPROT	Citrullinemia type I is an autosomal recessive disorder that is caused by a deficiency of the urea cycle enzyme argininosuccinate synthetase (ASS1).	0.454396351	2009	ASS1	9	130489413	C	T
rs192838388	14680976	445	ASS1	umls:C0175683	UNIPROT	Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).	0.454396351	2003	ASS1	9	130480398	G	A
rs192838388	NA	445	ASS1	umls:C0175683	CLINVAR	NA	0.454396351	NA	ASS1	9	130480398	G	A
rs35269064	11708871	445	ASS1	umls:C0175683	UNIPROT	Phenotype and genotype heterogeneity in Mediterranean citrullinemia.	0.454396351	2001	ASS1	9	130458549	G	A,T
rs35269064	NA	445	ASS1	umls:C0175683	CLINVAR	NA	0.454396351	NA	ASS1	9	130458549	G	A,T
rs371265106	NA	445	ASS1	umls:C0175683	CLINVAR	NA	0.454396351	NA	ASS1	9	130480447	G	A
rs398123130	NA	445	ASS1	umls:C0175683	CLINVAR	NA	0.454396351	NA	ASS1	9	130470832	A	G
rs398123131	NA	445	ASS1	umls:C0175683	CLINVAR	NA	0.454396351	NA	ASS1	9	130480405	G	A
rs727503814	NA	445	ASS1	umls:C0175683	CLINVAR	NA	0.454396351	NA	ASS1;LOC105376294	9	130500975	G	C
rs751930594	NA	445	ASS1	umls:C0175683	CLINVAR	NA	0.454396351	NA	ASS1	9	130466723	A	G,T
rs770362721	NA	445	ASS1	umls:C0175683	CLINVAR	NA	0.454396351	NA	ASS1	9	130489386	G	-
rs777828000	NA	445	ASS1	umls:C0175683	CLINVAR	NA	0.454396351	NA	ASS1	9	130471489	G	A
rs786204460	NA	445	ASS1	umls:C0175683	CLINVAR	NA	0.454396351	NA	ASS1;LOC105376294	9	130499515	C	T
rs786204537	NA	445	ASS1	umls:C0175683	CLINVAR	NA	0.454396351	NA	ASS1;LOC105376294	9	130494926	C	T
rs786204648	NA	445	ASS1	umls:C0175683	CLINVAR	NA	0.454396351	NA	ASS1	9	130466754	CT	-

GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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