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	arterial tortuosity syndrome

Disease ID	734
Disease	arterial tortuosity syndrome
Definition	Arterial tortuosity syndrome (ATS) is a rare congenital connective tissue condition disorder characterized by elongation and generalized tortuosity of the major arteries including the aorta. It is associated with hyperextensible skin and hypermobility of joints, however symptoms vary depending on the patient. Because ATS is so rare, not much is known about the disease. - Wikipedia Reference: https://en.wikipedia.org/wiki/arterial tortuosity syndrome
Synonym	arterial tortuosity arterial tortuosity syndrome (disorder)
Orphanet	ORPHANET:3342
OMIM	OMIM:208050
DOID	DOID:0050645
UMLS	C1859726
SNOMED-CT	SNOMEDCT_US_2016_09_01:458432002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0003486 \| aortic aneurysm \| 3 C0007766 \| intracranial aneurysm \| 1 C0007766 \| intracranial aneurysms \| 1 C0020538 \| hypertension \| 1 C0007766 \| cranial aneurysm \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 81031 \| SLC2A10 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:16) 1280 \| COL2A1 \| 1.917 \| DISEASES 1289 \| COL5A1 \| 2.919 \| DISEASES 1290 \| COL5A2 \| 3.17 \| DISEASES 1291 \| COL6A1 \| 2.743 \| DISEASES 1490 \| CTGF \| 1.256 \| DISEASES 10516 \| FBLN5 \| 2.682 \| DISEASES 2335 \| FN1 \| 1.88 \| DISEASES 3745 \| KCNB1 \| 1.312 \| DISEASES 4629 \| MYH11 \| 2.071 \| DISEASES 4638 \| MYLK \| 2.387 \| DISEASES 5747 \| PTK2 \| 1.618 \| DISEASES 81031 \| SLC2A10 \| 7.789 \| DISEASES 4088 \| SMAD3 \| 1.448 \| DISEASES 7046 \| TGFBR1 \| 3.32 \| DISEASES 7048 \| TGFBR2 \| 1.803 \| DISEASES 7148 \| TNXB \| 2.935 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) SLC2A10 \| 20q13.12

Disease ID	734
Disease	arterial tortuosity syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:61) HP:0001263 \| Global developmental delay HP:0002094 \| Dyspnea HP:0004942 \| Aortic aneurysm HP:0012378 \| Fatigue HP:0000581 \| Blepharophimosis HP:0003196 \| Short nose HP:0000545 \| Myopia HP:0100585 \| Telangiectasia of the skin HP:0001166 \| Arachnodactyly HP:0012745 \| Short palpebral fissure HP:0001644 \| Dilated cardiomyopathy HP:0001838 \| Rocker bottom foot HP:0007495 \| Prematurely aged appearance HP:0000974 \| Hyperextensible skin HP:0002098 \| Respiratory distress HP:0100545 \| Arterial stenosis HP:0000563 \| Keratoconus HP:0001635 \| Congestive heart failure HP:0000963 \| Thin skin HP:0001637 \| Abnormality of the myocardium HP:0005743 \| Avascular necrosis of the capital femoral epiphysis HP:0000276 \| Long face HP:0000486 \| Strabismus HP:0005692 \| Joint hyperflexibility HP:0000316 \| Hypertelorism HP:0000822 \| Hypertension HP:0001639 \| Hypertrophic cardiomyopathy HP:0002617 \| Aneurysm HP:0002647 \| Aortic dissection HP:0002020 \| Gastroesophageal reflux HP:0010668 \| Abnormality of the zygomatic bone HP:0000256 \| Macrocephaly HP:0001658 \| Myocardial infarction HP:0004415 \| Pulmonary artery stenosis HP:0002650 \| Scoliosis HP:0011302 \| Long palm HP:0000272 \| Malar flattening HP:0001119 \| Keratoglobus HP:0004209 \| Clinodactyly of the 5th finger HP:0002021 \| Pyloric stenosis HP:0012819 \| Myocarditis HP:0000023 \| Inguinal hernia HP:0100633 \| Esophagitis HP:0001249 \| Intellectual disability HP:0002616 \| Aortic root dilatation HP:0001385 \| Hip dysplasia HP:0001363 \| Craniosynostosis HP:0002812 \| Coxa vara HP:0005344 \| Abnormality of the carotid arteries HP:0001582 \| Redundant skin HP:0008501 \| Median cleft lip and palate HP:0002878 \| Respiratory failure HP:0100541 \| Femoral hernia HP:0001695 \| Cardiac arrest HP:0000400 \| Macrotia HP:0001328 \| Specific learning disability HP:0002827 \| Hip dislocation HP:0006543 \| Cardiorespiratory arrest HP:0001252 \| Muscular hypotonia HP:0002036 \| Hiatus hernia HP:0002673 \| Coxa valga
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0002617 \| Aneurysmal dilatation \| 5 HP:0004942 \| Aortic aneurysm \| 3 HP:0000822 \| Hypertension \| 1 HP:0002631 \| Ascending aortic aneurysm \| 1 HP:0004944 \| Cerebral artery aneurysm \| 1

Disease ID	734
Disease	arterial tortuosity syndrome
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:20)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121908172	NA	81031	SLC2A10	umls:C1859726	CLINVAR	NA	0.481628651	NA	SLC2A10	20	46726312	G	T
rs121908173	NA	81031	SLC2A10	umls:C1859726	CLINVAR	NA	0.481628651	NA	SLC2A10	20	46725430	C	T
rs146579504	NA	81031	SLC2A10	umls:C1859726	CLINVAR	NA	0.481628651	NA	SLC2A10	20	46725727	C	T
rs370547023	NA	81031	SLC2A10	umls:C1859726	CLINVAR	NA	0.481628651	NA	SLC2A10	20	46726905	C	T
rs564317065	17935213	81031	SLC2A10	umls:C1859726	UNIPROT	As such, overt diabetes is not related to SLC2A10 mutations associated with ATS.	0.481628651	2008	SLC2A10	20	46725773	G	A
rs564317065	NA	81031	SLC2A10	umls:C1859726	CLINVAR	NA	0.481628651	NA	SLC2A10	20	46725773	G	A
rs572620317	NA	81031	SLC2A10	umls:C1859726	CLINVAR	NA	0.481628651	NA	SLC2A10	20	46725453	T	A,C
rs587776599	NA	81031	SLC2A10	umls:C1859726	CLINVAR	NA	0.481628651	NA	SLC2A10	20	46725997	G	-
rs587776600	NA	81031	SLC2A10	umls:C1859726	CLINVAR	NA	0.481628651	NA	SLC2A10	20	46726909	G	-
rs753723351	NA	81031	SLC2A10	umls:C1859726	CLINVAR	NA	0.481628651	NA	SLC2A10	20	46726909	G	A
rs756457861	NA	81031	SLC2A10	umls:C1859726	CLINVAR	NA	0.481628651	NA	SLC2A10	20	46725721	C	A,T
rs763220502	NA	81031	SLC2A10	umls:C1859726	CLINVAR	NA	0.481628651	NA	SLC2A10	20	46726884	G	A
rs767864243	NA	81031	SLC2A10	umls:C1859726	CLINVAR	NA	0.481628651	NA	SLC2A10	20	46725349	C	T
rs771028960	NA	81031	SLC2A10	umls:C1859726	CLINVAR	NA	0.481628651	NA	SLC2A10	20	46725728	G	A
rs80358229	NA	81031	SLC2A10	umls:C1859726	CLINVAR	NA	0.481628651	NA	SLC2A10	20	46725546	G	A
rs80358230	NA	81031	SLC2A10	umls:C1859726	CLINVAR	NA	0.481628651	NA	SLC2A10	20	46725279	C	G
rs864309478	NA	81031	SLC2A10	umls:C1859726	CLINVAR	NA	0.481628651	NA	SLC2A10	20	46725792	C	A
rs864309479	NA	81031	SLC2A10	umls:C1859726	CLINVAR	NA	0.481628651	NA	SLC2A10	20	46726987	G	A
rs864309480	NA	81031	SLC2A10	umls:C1859726	CLINVAR	NA	0.481628651	NA	SLC2A10	20	46725461	G	T
rs864309481	NA	81031	SLC2A10	umls:C1859726	CLINVAR	NA	0.481628651	NA	SLC2A10	20	46725766	CTAA	-

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

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

Mapped by lexical matching(Total Items:24)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002021	Pyloric stenosis	MP:0006128	pulmonary valve stenosis	abnormal narrowing of the pulmonary valve
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:0002647	Aortic dissection	MP:0004044	aortic dissection	a pathologic process, characterized by splitting of the media layer of the aorta, which leads to formation of a dissecting aneurysm
HP:0001644	Dilated cardiomyopathy	MP:0005330	cardiomyopathy	diseases of the heart (myocardium); may result from many causes
HP:0000974	Hyperextensible skin	MP:0010678	abnormal skin adnexa morphology	any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails
HP:0001639	Hypertrophic cardiomyopathy	MP:0005330	cardiomyopathy	diseases of the heart (myocardium); may result from many causes
HP:0000023	Inguinal hernia	MP:0010146	umbilical hernia	an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close
HP:0004209	Clinodactyly of the 5th finger	MP:0011665	d-loop transposition of the great arteries	complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th
HP:0001263	Global developmental delay	MP:0002084	abnormal developmental patterning	abnormal systematic arrangement of the developing body along an axis
HP:0001252	Muscular hypotonia	MP:0004144	hypotonia	decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness
HP:0008501	Median cleft lip and palate	MP:0009890	cleft secondary palate	congenital fissure of the tissues normally uniting to form the secondary palate
HP:0001582	Redundant skin	MP:0010678	abnormal skin adnexa morphology	any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails
HP:0000963	Thin skin	MP:0010678	abnormal skin adnexa morphology	any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails
HP:0001328	Specific learning disability	MP:0002802	abnormal discrimination learning	anomaly in the ability to exhibit a differential response to different stimuli that is achieved by the reinforcement of the desired response for each particular stimulus
HP:0005743	Avascular necrosis of the capital femoral epiphysis	MP:0008752	abnormal tumor necrosis factor level	deviation from the normal levels of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in in
HP:0001838	Rocker bottom foot	MP:0008059	abnormal podocyte foot process morphology	any structural anomaly of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries
HP:0001635	Congestive heart failure	MP:0011925	abnormal heart echocardiography feature	any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features
HP:0000276	Long face	MP:0012546	triangular face	a face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards; usually associated with a prominent forehead and micrognathia
HP:0100545	Arterial stenosis	MP:0010641	descending aorta stenosis	diffuse constriction or narrowing of the descending aorta
HP:0004942	Aortic aneurysm	MP:0010661	ascending aorta aneurysm	a protruding sac formed by the dilation of the wall of the of the part of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch, resulting from a weakening of the vessel wall
HP:0002098	Respiratory distress	MP:0001954	respiratory distress	physical difficulty or inability to breathe; shortness of breath
HP:0004415	Pulmonary artery stenosis	MP:0012730	abnormal internal carotid artery morphology	any structural anomaly of the terminal branch of the left or right common carotid artery which supplies oxygenated blood to the brain and eyes
HP:0002878	Respiratory failure	MP:0012129	failure of blastocyst formation	inability to form a blastocyst from a solid ball of cells known as a morula
HP:0100585	Telangiectasia of the skin	MP:0011022	abnormal circadian regulation of systemic arterial blood pressure	any anomaly in the process in which an organism modulates its blood pressure at different values with a regularity of approximately 24 hours

Mapped by homologous gene(Total Items:58)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001252	Muscular hypotonia	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:0002650	Scoliosis	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0002878	Respiratory failure	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0001385	Hip dysplasia	MP:0013293	embryonic lethality prior to tooth bud stage	death prior to the appearance of tooth buds (Mus: E12-E12.5)
HP:0002098	Respiratory distress	MP:0014198	absent pituitary infundibular stalk	absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland
HP:0002021	Pyloric stenosis	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000486	Strabismus	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:0002616	Aortic root dilatation	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000276	Long face	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0100545	Arterial stenosis	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
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:0100541	Femoral hernia	MP:0013174	pharynx stenosis	abnormal narrowing or constriction of the passage between the mouth and the posterior nares and the larynx and esophagus
HP:0002673	Coxa valga	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002036	Hiatus hernia	MP:0014178	increased brain apoptosis	increase in the number of cells of the brain undergoing programmed cell death
HP:0000316	Hypertelorism	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0002094	Dyspnea	MP:0014185	cerebellum atrophy	acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0001363	Craniosynostosis	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000581	Blepharophimosis	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002827	Hip dislocation	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0005743	Avascular necrosis of the capital femoral epiphysis	MP:0014164	abnormal ciliary process morphology	any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter
HP:0008501	Median cleft lip and palate	MP:0013906	absent embryonic telencephalon	absence of the paired diverticula of the embryonic telencephalon, from which the forebrain develops
HP:0001695	Cardiac arrest	MP:0013578	abnormal stomach glandular region morphology	any structural anomaly of the distinct glandular stomach area which in rodents is demarcated from the non-glandular forestomach by the limiting ridge (margo plicatus); the glandular stomach is connected to the small intestine (duodenum); the wall of the g
HP:0001639	Hypertrophic cardiomyopathy	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0012378	Fatigue	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:0004415	Pulmonary artery stenosis	MP:0013241	embryo tissue necrosis	morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage
HP:0001644	Dilated cardiomyopathy	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002617	Aneurysm	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0001328	Specific learning disability	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:0000963	Thin skin	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
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:0011302	Long palm	MP:0013600	testis degeneration	a retrogressive impairment of function or destruction of either or both of the male reproductive glands
HP:0001582	Redundant skin	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0004942	Aortic aneurysm	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
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:0002812	Coxa vara	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000563	Keratoconus	MP:0013743	ciliary body hypoplasia	underdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris
HP:0005344	Abnormality of the carotid arteries	MP:0014178	increased brain apoptosis	increase in the number of cells of the brain undergoing programmed cell death
HP:0000400	Macrotia	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0002020	Gastroesophageal reflux	MP:0014178	increased brain apoptosis	increase in the number of cells of the brain undergoing programmed cell death
HP:0001166	Arachnodactyly	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0001635	Congestive heart failure	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001658	Myocardial infarction	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000545	Myopia	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000272	Malar flattening	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0004209	Clinodactyly of the 5th finger	MP:0020157	abnormal behavioral response to alcohol	any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0001838	Rocker bottom foot	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0012745	Short palpebral fissure	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0007495	Prematurely aged appearance	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000023	Inguinal hernia	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000256	Macrocephaly	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0100585	Telangiectasia of the skin	MP:0014127	increased thymoma incidence	greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas
HP:0005692	Joint hyperflexibility	MP:0012125	decreased bronchoconstrictive response	reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography
HP:0002647	Aortic dissection	MP:0012125	decreased bronchoconstrictive response	reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography
HP:0001119	Keratoglobus	MP:0011642	abnormal bone collagen fibril morphology	any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity
HP:0100633	Esophagitis	MP:0013602	abnormal Leydig cell differentiation	atypical formation of or inability to produce the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone; in most mammals, normal Leydig cell (LC) development
HP:0000974	Hyperextensible skin	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000822	Hypertension	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:0006543	Cardiorespiratory arrest	MP:0011100	preweaning lethality, complete penetrance	death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)

Disease ID	734
Disease	arterial tortuosity syndrome
Case	(Waiting for update.)