eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	citrullinemia

Disease ID	217
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:23 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:14) C0009447 \| common variable immunodeficiency \| 2 C0025289 \| meningitis \| 1 C0023448 \| lymphocytic leukemia \| 1 C0004096 \| asthma \| 1 C0023434 \| chronic lymphocytic leukemia \| 1 C0023448 \| lymphocytic leukaemia \| 1 C0272238 \| transient hypogammaglobulinemia of infancy \| 1 C0014544 \| epilepsy \| 1 C0021400 \| influenza \| 1 C0023434 \| chronic lymphocytic leukaemia \| 1 C0023418 \| leukaemia \| 1 C0019151 \| hepatic encephalopathy \| 1 C0004096 \| bronchial asthma \| 1 C0011847 \| diabetes \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 10165 \| SLC25A13 \| GHR;UNIPROT 445 \| ASS1 \| CLINVAR;CTD_human;GHR;UNIPROT 6576 \| SLC25A1 \| UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:17) 10157 \| AASS \| 4.256 \| DISEASES 37 \| ACADVL \| 3.339 \| DISEASES 353 \| APRT \| 2.467 \| DISEASES 8678 \| BECN1 \| 1.024 \| DISEASES 831 \| CAST \| 2.208 \| DISEASES 1806 \| DPYD \| 1.697 \| DISEASES 3030 \| HADHA \| 2.542 \| DISEASES 3141 \| HLCS \| 2.698 \| DISEASES 3778 \| KCNMA1 \| 1.839 \| DISEASES 116150 \| NUS1 \| 3.842 \| DISEASES 5053 \| PAH \| 1.922 \| DISEASES 5091 \| PC \| 2.234 \| DISEASES 54496 \| PRMT7 \| 3.873 \| DISEASES 5625 \| PRODH \| 2.26 \| DISEASES 10165 \| SLC25A13 \| 7.004 \| DISEASES 10166 \| SLC25A15 \| 3.764 \| DISEASES 51733 \| UPB1 \| 3.51 \| DISEASES
Locus	(Waiting for update.)

Disease ID	217
Disease	citrullinemia
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:20) HP:0001250 \| Seizures HP:0002240 \| Enlarged liver HP:0001251 \| Ataxia HP:0001263 \| Developmental retardation HP:0001950 \| Respiratory alkalosis HP:0003217 \| Hyperglutaminemia HP:0002038 \| Protein avoidance HP:0002181 \| Cerebral edema HP:0001254 \| Lethargy HP:0001259 \| Coma HP:0005961 \| Low blood arginine levels HP:0001987 \| Hyperammonemia HP:0001951 \| Episodic ammonia intoxication HP:0003218 \| Oroticaciduria HP:0000737 \| Irritability HP:0001394 \| Hepatic cirrhosis HP:0001508 \| Weight faltering HP:0001297 \| Cerebral vascular events HP:0002013 \| Emesis HP:0001249 \| Mental retardation
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:15) HP:0011947 \| Respiratory infection \| 3 HP:0002205 \| Frequent respiratory infections \| 2 HP:0004313 \| Decreased immunoglobulin level \| 2 HP:0002719 \| infections, recurrent \| 2 HP:0002480 \| Hepatic encephalopathy \| 1 HP:0002720 \| Decreased immunoglobulin A \| 1 HP:0002099 \| Asthma \| 1 HP:0012475 \| Specific antibody deficiency \| 1 HP:0001399 \| Liver failure \| 1 HP:0005432 \| Transient hypogammaglobulinemia of infancy \| 1 HP:0005550 \| Chronic lymphatic leukemia \| 1 HP:0005435 \| Impaired T cell function \| 1 HP:0001259 \| Coma \| 1 HP:0006554 \| Acute hepatic failure \| 1 HP:0001287 \| Meningitis \| 1

Disease ID	217
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.)

Text Mining Genotype(Total 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)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:4)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001508	Failure to thrive	MP:0013294	prenatal lethality prior to heart atrial septation	death prior to the completion of heart atrial septation (Mus: E14.5-15.5)
HP:0001951	Episodic ammonia intoxication	MP:0005309	increased circulating ammonia level	significantly elevated levels of ammonia or its compounds in blood; often associated with liver failure and hepatic encephalopathy
HP:0001263	Global developmental delay	MP:0002084	abnormal developmental patterning	abnormal systematic arrangement of the developing body along an axis
HP:0002038	Protein avoidance	MP:0004000	impaired passive avoidance behavior	decrease in or absence of the latency of an animal to enter an hostile environment where it receives a unpleasant or punishing stimuli applied previously

Mapped by homologous gene(Total Items:20)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001394	Cirrhosis	MP:0020134	abnormal gallbladder size	an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile
HP:0001987	Hyperammonemia	MP:0013405	increased circulating lactate level	greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase
HP:0000737	Irritability	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001263	Global developmental delay	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001508	Failure to thrive	MP:0020234	decreased basal metabolism	decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0002013	Vomiting	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001249	Intellectual disability	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001250	Seizures	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001259	Coma	MP:0020216	decreased circulating complement protein level	less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0001254	Lethargy	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002181	Cerebral edema	MP:0013294	prenatal lethality prior to heart atrial septation	death prior to the completion of heart atrial septation (Mus: E14.5-15.5)
HP:0001297	Stroke	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001950	Respiratory alkalosis	MP:0011765	oroticaciduria	increased level of orotic acid, an intermediate of pyrimidine synthesis, in the urine
HP:0001251	Ataxia	MP:0020301	short tongue	decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor
HP:0005961	Hypoargininemia	MP:0011087	neonatal lethality, complete penetrance	death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)
HP:0002240	Hepatomegaly	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0003218	Oroticaciduria	MP:0011090	perinatal lethality, incomplete penetrance	the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the perinatal period (Mus: E18.5 through postnatal day 1)
HP:0001951	Episodic ammonia intoxication	MP:0011765	oroticaciduria	increased level of orotic acid, an intermediate of pyrimidine synthesis, in the urine
HP:0003217	Hyperglutaminemia	MP:0011765	oroticaciduria	increased level of orotic acid, an intermediate of pyrimidine synthesis, in the urine
HP:0002038	Protein avoidance	MP:0011765	oroticaciduria	increased level of orotic acid, an intermediate of pyrimidine synthesis, in the urine

Disease ID	217
Disease	citrullinemia
Case	(Waiting for update.)