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	adenylosuccinate lyase deficiency

Disease ID	1317
Disease	adenylosuccinate lyase deficiency
Definition	Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is a rare autosomal recessive metabolic disorder characterized by the appearance of succinylaminoimidazolecarboxamide riboside (SAICA riboside) and succinyladenosine (S-Ado) in cerebrospinal fluid, urine, and to a lesser extent in plasma.These two succinylpurines are the dephosphorylated derivatives of SAICA ribotide (SAICAR) and adenylosuccinate (S-AMP), the two substrates of adenylosuccinate lyase (ADSL), which catalyzes an important reaction in the de novo pathway of purine biosynthesis ADSL catalyzes two distinct reactions in the synthesis of purine nucleotides, both of which involve the β-elimination of fumarate to produce either aminoimidazole carboxamide ribotide (AICAR) from SAICAR or adenosine monophosphate (AMP) from S-AMP. - NORD Reference: NORD
Synonym	adenylosuccinase deficiency adenylosuccinate deficiency adenylosuccinate lyase deficiency (disorder) adenylosuccinate lyase deficiency type 1 adenylosuccinate lyase deficiency type 2 adenylosuccinate lyase deficiency type 3 adenylosuccinate lyase deficiency type 4 adsl deficiency adsld asase - adenylosuccinate lyase deficiency deficiency of adenylosuccinase deficiency of adenylosuccinate lyase deficiency of adenylosuccinate lyase (disorder) succinyladenosinuria succinylpurinaemic autism succinylpurinemic autism
Orphanet	ORPHANET:46
OMIM	OMIM:103050
UMLS	C0268126
SNOMED-CT	SNOMEDCT_US_2016_09_01:15285008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0014544 \| epilepsy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 158 \| ADSL \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:1) ADSL \| 22q13.1

Disease ID	1317
Disease	adenylosuccinate lyase deficiency
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:17) HP:0001250 \| Seizures HP:0005469 \| Flat occiput HP:0000219 \| Thin upper lip vermilion HP:0005487 \| Prominent metopic ridge HP:0000369 \| Low-set ears HP:0003196 \| Short nose HP:0000463 \| Anteverted nares HP:0000252 \| Microcephaly HP:0007103 \| Hypointensity of cerebral white matter on MRI HP:0000319 \| Smooth philtrum HP:0000343 \| Long philtrum HP:0000248 \| Brachycephaly HP:0001344 \| Absent speech HP:0001999 \| Abnormal facial shape HP:0001290 \| Generalized hypotonia HP:0011344 \| Severe global developmental delay HP:0001249 \| Intellectual disability
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0001250 \| Seizures \| 1 HP:0002133 \| Status epilepticus \| 1

Disease ID	1317
Disease	adenylosuccinate lyase deficiency
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

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

All Snps(Total Genotypes:12)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs119450940	NA	158	ADSL	umls:C0268126	CLINVAR	NA	0.481628651	NA	ADSL	22	40365000	T	C
rs119450941	NA	158	ADSL	umls:C0268126	CLINVAR	NA	0.481628651	NA	ADSL	22	40364965	G	A
rs119450942	NA	158	ADSL	umls:C0268126	CLINVAR	NA	0.481628651	NA	ADSL	22	40349976	C	G
rs119450943	NA	158	ADSL	umls:C0268126	CLINVAR	NA	0.481628651	NA	ADSL	22	40364952	G	T
rs119450944	NA	158	ADSL	umls:C0268126	CLINVAR	NA	0.481628651	NA	ADSL	22	40360436	A	G
rs119450945	NA	158	ADSL	umls:C0268126	CLINVAR	NA	0.481628651	NA	ADSL	22	40359279	T	C
rs143083947	10958654	158	ADSL	umls:C0268126	UNIPROT	Adenylosuccinate lyase (ADSL) deficiency (MIM 103050) is an autosomal recessive inborn error of purine synthesis characterized by the accumulation in body fluids of succinylaminoimidazolecarboxamide (SAICA) riboside and succinyladenosine (S-Ado), the dephosphorylated derivatives of the two substrates of the enzyme.	0.481628651	2000	ADSL	22	40346563	C	T
rs28941471	10090474	158	ADSL	umls:C0268126	UNIPROT	Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.	0.481628651	1999	ADSL	22	40358950	G	A
rs28941471	NA	158	ADSL	umls:C0268126	CLINVAR	NA	0.481628651	NA	ADSL	22	40358950	G	A
rs373458753	22812634	158	ADSL	umls:C0268126	BeFree	Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation.	0.481628651	2012	ADSL	22	40361532	C	T
rs374259530	NA	158	ADSL	umls:C0268126	CLINVAR	NA	0.481628651	NA	ADSL	22	40350018	T	C
rs776496275	NA	158	ADSL	umls:C0268126	CLINVAR	NA	0.481628651	NA	ADSL	22	40361619	G	C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

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

Mapped by lexical matching(Total Items:6)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001999	Abnormal facial shape	MP:0008018	increased facial tumor incidence	greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period
HP:0007103	Hypointensity of cerebral white matter on MRI	MP:0009403	increased variability of skeletal muscle fiber size	greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls
HP:0003196	Short nose	MP:0002233	abnormal nose morphology	any structural anomaly of the organ that is specialized for smell and is part of the respiratory system
HP:0000219	Thin upper lip vermilion	MP:0005170	cleft upper lip	defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences
HP:0001290	Generalized hypotonia	MP:0004144	hypotonia	decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness
HP:0011344	Severe global developmental delay	MP:0002084	abnormal developmental patterning	abnormal systematic arrangement of the developing body along an axis

Mapped by homologous gene(Total Items:17)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0007103	Hypointensity of cerebral white matter on MRI	MP:0013659	abnormal erythroid lineage cell morphology	any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes
HP:0000319	Smooth philtrum	MP:0014124	increased amylin secretion	greater than normal production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiet
HP:0000343	Long philtrum	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0011344	Severe global developmental delay	MP:0020157	abnormal behavioral response to alcohol	any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0001344	Absent speech	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0005487	Prominent metopic ridge	MP:0014125	decreased amylin secretion	reduction in the production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiety a
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:0000369	Low-set ears	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
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:0000248	Brachycephaly	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0005469	Flat occiput	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000252	Microcephaly	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:0000463	Anteverted nares	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0001290	Generalized hypotonia	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000219	Thin upper lip vermilion	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0003196	Short nose	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0001999	Abnormal facial shape	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).

Disease ID	1317
Disease	adenylosuccinate lyase deficiency
Case	(Waiting for update.)

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