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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Alopecia (D000505)
Parent Node: Cerebral Infarction (D002544)
Parent Node: Leukoencephalopathies (D056784)
Parent Node: Spinal Diseases (D013122)
..Starting node ..Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (C563990)
Child Nodes:
Sister Nodes:
..Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (C563990)
..Intervertebral Disc Degeneration (D055959) 1
..Intervertebral Disc Displacement (D007405) 2
..Laplane Fontaine Lagardere syndrome (C537869)
..Microcephaly cervical spine fusion anomalies (C537325)
..Ossification of Posterior Longitudinal Ligament (D017887) 1
..Platybasia (D010985) 1
..Posterior Cervical Sympathetic Syndrome (D055010)
..Spinal Curvatures (D013121) 37
..Spinal Neoplasms (D013125)
..Spinal Osteochondrosis (D055035) 1
..Spinal Osteophytosis (D013128) 2
..Spinal Stenosis (D013130)
..Spondylitis (D013166) 10
..Spondylocamptodactyly (C535779)
..Spondylosis (D055009) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1939

Name:

Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Definition:

Alternative IDs:

ParentIDs:

MESH:D000505|MESH:D002544|MESH:D013122|MESH:D056784

TreeNumbers:

C05.116.900/C563990 |C10.228.140.300.150.477.200/C563990 |C10.228.140.300.775.200.200/C563990 |C10.228.140.695/C563990 |C14.907.253.092.477.200/C563990 |C14.907.253.855.200.200/C563990 |C17.800.329.937.122/C563990 |C23.300.035/C563990

Synonyms:

CARASIL |Cerebrovascular Disease with Thin Skin, Alopecia, and Disc Disease |Familial Young-Adult-Onset Arteriosclerotic Leukoencephalopathy with Alopecia and Lumbago without Arterial Hypertension |MAEDA Syndrome |Nemoto Disease |Subcortical Vascular Encephal

Slim Mappings:

Cardiovascular disease|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Skin disease

Reference:

MedGen: C563990
MeSH: C563990
OMIM: 600142;

Genes: HTRA1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002071	Abnormality of extrapyramidal motor function
3	HP:0001596	Alopecia
4	HP:0004931	Arteriosclerosis of small cerebral arteries
5	HP:0001251	Ataxia
6	HP:0003487	Babinski sign
7	HP:0000726	Dementia
8	HP:0007162	Diffuse demyelination of the cerebral white matter
9	HP:0007204	Diffuse white matter abnormalities
10	HP:0001260	Dysarthria
11	HP:0001288	Gait disturbance
12	HP:0001347	Hyperreflexia
13	HP:0002352	Leukoencephalopathy
14	HP:0003419	Low back pain
15	HP:0000639	Nystagmus	HP:0040283
16	HP:0002448	Progressive encephalopathy
17	HP:0002200	Pseudobulbar signs
18	HP:0002063	Rigidity
19	HP:0001257	Spasticity
20	HP:0000020	Urinary incontinence

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_002775.4(HTRA1):c.102C>T (p.Ala34=)	5654	HTRA1	Benign	1049331	RCV000020489;	N	MedGen:C1838577,OMIM:600142,ORPHA:199354	10	124221270	124221270	NM_002775.4:c.102C>T	NP_002766.1:p.Ala34=	NC_000010.10:g.124221270C>T	-	C1838577 600142 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
NM_002775.4(HTRA1):c.108G>C (p.Gly36=)	5654	HTRA1	Benign	2293870	RCV000020490;	N	MedGen:C1838577,OMIM:600142,ORPHA:199354	10	124221276	124221276	NM_002775.4:c.108G>C	NP_002766.1:p.Gly36=	NC_000010.10:g.124221276G>C,NC_000010.10:g.124221276G>T	-	C1838577 600142 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
NM_002775.4(HTRA1):c.108G>T (p.Gly36=)	5654	HTRA1	Benign	2293870	RCV000020491;	N	MedGen:C1838577,OMIM:600142,ORPHA:199354	10	124221276	124221276	NM_002775.4:c.108G>T	NP_002766.1:p.Gly36=	NC_000010.10:g.124221276G>C,NC_000010.10:g.124221276G>T	-	C1838577 600142 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
NM_002775.4(HTRA1):c.126delG (p.Glu42Aspfs)	5654	HTRA1	Pathogenic	587776448	RCV000144150; RCV000157766;	N	MedGen:C1838577,OMIM:600142,ORPHA:199354	10	124221294	124221294	NM_002775.4:c.126delG	NP_002766.1:p.Glu42Aspfs		OMIM Allelic Variant:602194.0008	C1838577 600142 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
NM_002775.4(HTRA1):c.126delG (p.Glu42Aspfs)	5654	HTRA1	Pathogenic	587776448	RCV000144150; RCV000157766;	N	MedGen:C1838577,OMIM:600142,ORPHA:199354	10	124221294	124221294	NM_002775.4:c.126delG	NP_002766.1:p.Glu42Aspfs		OMIM Allelic Variant:602194.0008	C1838577 600142 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
NM_002775.4(HTRA1):c.754G>A (p.Ala252Thr)	5654	HTRA1	Pathogenic	113993968	RCV000007919;	N	MedGen:C1838577,OMIM:600142,ORPHA:199354	10	124249119	124249119	NM_002775.4:c.754G>A	NP_002766.1:p.Ala252Thr	NC_000010.10:g.124249119G>A	OMIM Allelic Variant:602194.0005,UniProtKB (variants):VAR_063148	C1838577 600142 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
NM_002775.4(HTRA1):c.821G>A (p.Arg274Gln)	5654	HTRA1	Pathogenic	587776445	RCV000144147;	N	MedGen:C1838577,OMIM:600142,ORPHA:199354	10	124266250	124266250	NM_002775.4:c.821G>A	NP_002766.1:p.Arg274Gln	NC_000010.10:g.124266250G>A	-	C1838577 600142 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
NM_002775.4(HTRA1):c.854C>T (p.Pro285Leu)	5654	HTRA1	Pathogenic	587776446	RCV000144148;	N	MedGen:C1838577,OMIM:600142,ORPHA:199354	10	124266283	124266283	NM_002775.4:c.854C>T	NP_002766.1:p.Pro285Leu	10:g.124266283C>T	-	C1838577 600142 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
NM_002775.4(HTRA1):c.883G>A (p.Gly295Arg)	5654	HTRA1	Pathogenic	587776873	RCV000023168;	N	MedGen:C1838577,OMIM:600142,ORPHA:199354	10	124266312	124266312	NM_002775.4:c.883G>A	NP_002766.1:p.Gly295Arg	NC_000010.10:g.124266312G>A	OMIM Allelic Variant:602194.0006	C1838577 600142 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
NM_002775.4(HTRA1):c.889G>A (p.Val297Met)	5654	HTRA1	Pathogenic	113993969	RCV000007918;	N	MedGen:C1838577,OMIM:600142,ORPHA:199354	10	124266318	124266318	NM_002775.4:c.889G>A	NP_002766.1:p.Val297Met	NC_000010.10:g.124266318G>A	OMIM Allelic Variant:602194.0004,UniProtKB (variants):VAR_063149	C1838577 600142 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
NM_002775.4(HTRA1):c.904C>T (p.Arg302Ter)	5654	HTRA1	Pathogenic	113993970	RCV000007917;	N	MedGen:C1838577,OMIM:600142,ORPHA:199354	10	124266333	124266333	NM_002775.4:c.904C>T	NP_002766.1:p.Arg302Ter	NC_000010.10:g.124266333C>T	OMIM Allelic Variant:602194.0003	C1838577 600142 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
NM_002775.4(HTRA1):c.961G>A (p.Ala321Thr)	5654	HTRA1	Pathogenic	587776449	RCV000144150; RCV000157765;	N	MedGen:C1838577,OMIM:600142,ORPHA:199354	10	124266390	124266390	NM_002775.4:c.961G>A	NP_002766.1:p.Ala321Thr	NC_000010.10:g.124266390G>A	OMIM Allelic Variant:602194.0007	C1838577 600142 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
NM_002775.4(HTRA1):c.961G>A (p.Ala321Thr)	5654	HTRA1	Pathogenic	587776449	RCV000144150; RCV000157765;	N	MedGen:C1838577,OMIM:600142,ORPHA:199354	10	124266390	124266390	NM_002775.4:c.961G>A	NP_002766.1:p.Ala321Thr	NC_000010.10:g.124266390G>A	OMIM Allelic Variant:602194.0007	C1838577 600142 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
NM_002775.4(HTRA1):c.1091T>C (p.Leu364Pro)	5654	HTRA1	Pathogenic	587776447	RCV000144149;	N	MedGen:C1838577,OMIM:600142,ORPHA:199354	10	124268257	124268257	NM_002775.4:c.1091T>C	NP_002766.1:p.Leu364Pro	10:g.124268257T>C	-	C1838577 600142 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
NM_002775.4(HTRA1):c.1108C>T (p.Arg370Ter)	5654	HTRA1	Pathogenic	113993971	RCV000007916;	N	MedGen:C1838577,OMIM:600142,ORPHA:199354	10	124268274	124268274	NM_002775.4:c.1108C>T	NP_002766.1:p.Arg370Ter	NC_000010.10:g.124268274C>T	OMIM Allelic Variant:602194.0002	C1838577 600142 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy