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Hello! Guest! Please Login or Register! Clinician Mode

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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Leukoencephalopathies (D056784)
Parent Node: Retinal Hemorrhage (D012166)
..Starting node ..Brain Small Vessel Disease with Hemorrhage (C564372)
Child Nodes:
Sister Nodes:
..Brain Small Vessel Disease with Hemorrhage (C564372)
..Frenkel Russe syndrome (C535638)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1456

Name:

Brain Small Vessel Disease with Hemorrhage

Definition:

Alternative IDs:

OMIM:607595

ParentIDs:

MESH:D012166|MESH:D056784

TreeNumbers:

C10.228.140.695/C564372 |C11.290.807/C564372 |C11.768.710/C564372 |C23.550.414.756.775/C564372

Synonyms:

Slim Mappings:

Eye disease|Nervous system disease|Pathology (process)

Reference:

MedGen: C564372
MeSH: C564372
OMIM: 607595;

Genes: COL4A1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000646	Amblyopia	HP:0040283
3	HP:0000483	Astigmatism	HP:0040283
4	HP:0000622	Blurred vision
5	HP:0011496	Corneal neovascularization	HP:0040283
6	HP:0007957	Corneal opacity	HP:0040283
7	HP:0000519	Developmental cataract	HP:0040283
8	HP:0009918	Ectopia pupillae	HP:0040283
9	HP:0000501	Glaucoma	HP:0040283
10	HP:0001269	Hemiparesis
11	HP:0000540	Hypermetropia	HP:0040283
12	HP:0007894	Hypopigmentation of the fundus
13	HP:0007676	Hypoplasia of the iris	HP:0040283
14	HP:0001256	Intellectual disability, mild	HP:0040283
15	HP:0000482	Microcornea	HP:0040283
16	HP:0000568	Microphthalmia	HP:0040283
17	HP:0002077	Migraine with aura
18	HP:0000545	Myopia	HP:0040283
19	HP:0011500	Polycoria	HP:0040283
20	HP:0002132	Porencephalic cyst	HP:0040283
21	HP:0006859	Posterior leukoencephalopathy
22	HP:0001136	Retinal arteriolar tortuosity
23	HP:0000541	Retinal detachment	HP:0040283
24	HP:0000575	Scotoma
25	HP:0001250	Seizure	HP:0040283
26	HP:0000486	Strabismus	HP:0040283

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_001845.5(COL4A1):c.4881C>G (p.Asn1627Lys)	1282	COL4A1	Pathogenic	672601348	RCV000149401;	N	MedGen:C1843512,OMIM:607595	13	110804728	110804728	NM_001845.5:c.4881C>G	NP_001836.3:p.Asn1627Lys	NC_000013.10:g.110804728G>C	OMIM Allelic Variant:120130.0022	C1843512 607595 Brain small vessel disease with hemorrhage
NM_001845.5(COL4A1):c.2662G>A (p.Gly888Arg)	1282	COL4A1	Likely pathogenic	797045034	RCV000191072;	N	MedGen:C1843512,OMIM:607595; MedGen:C1867983,OMIM:175780	13	110830243	110830243	NM_001845.5:c.2662G>A	NP_001836.3:p.Gly888Arg	NC_000013.10:g.110830243C>T	-	C1843512 607595 Brain small vessel disease with hemorrhage; C1867983 175780 Familial porencephaly
NM_001845.5(COL4A1):c.2317G>C (p.Gly773Arg)	1282	COL4A1	Pathogenic	672601347	RCV000149400;	N	MedGen:C1843512,OMIM:607595	13	110831645	110831645	NM_001845.5:c.2317G>C	NP_001836.3:p.Gly773Arg	NC_000013.10:g.110831645C>G	OMIM Allelic Variant:120130.0021	C1843512 607595 Brain small vessel disease with hemorrhage
NM_001845.5(COL4A1):c.2263G>A (p.Gly755Arg)	1282	COL4A1	Pathogenic	672601346	RCV000149399;	N	MedGen:C1843512,OMIM:607595	13	110831699	110831699	NM_001845.5:c.2263G>A	NP_001836.3:p.Gly755Arg	NC_000013.10:g.110831699C>T	OMIM Allelic Variant:120130.0020	C1843512 607595 Brain small vessel disease with hemorrhage
NM_001845.5(COL4A1):c.2194-1G>A	1282	COL4A1	Pathogenic	606231465	RCV000148944;	N	MedGen:C1843512,OMIM:607595	13	110831769	110831769	NM_001845.5:c.2194-1G>A		NC_000013.10:g.110831769C>T	OMIM Allelic Variant:120130.0019	C1843512 607595 Brain small vessel disease with hemorrhage
NM_001845.5(COL4A1):c.2159G>A (p.Gly720Asp)	1282	COL4A1	Pathogenic	113994108	RCV000032214;	N	MedGen:C1843512,OMIM:607595	13	110833673	110833673	NM_001845.5:c.2159G>A	NP_001836.3:p.Gly720Asp	NC_000013.10:g.110833673C>T	OMIM Allelic Variant:120130.0010	C1843512 607595 Brain small vessel disease with hemorrhage
NM_001845.5(COL4A1):c.2122G>A (p.Gly708Arg)	1282	COL4A1	Pathogenic	672601349	RCV000149402;	N	MedGen:C1843512,OMIM:607595	13	110833710	110833710	NM_001845.5:c.2122G>A	NP_001836.3:p.Gly708Arg	NC_000013.10:g.110833710C>T	OMIM Allelic Variant:120130.0023	C1843512 607595 Brain small vessel disease with hemorrhage
NM_001845.5(COL4A1):c.2086G>A (p.Gly696Ser)	1282	COL4A1	Likely pathogenic	587780588	RCV000122731;	N	MedGen:C1843512,OMIM:607595	13	110835349	110835349	NM_001845.5:c.2086G>A	NP_001836.3:p.Gly696Ser	NC_000013.10:g.110835349C>T	-	C1843512 607595 Brain small vessel disease with hemorrhage
NM_001845.5(COL4A1):c.2085delC (p.Gly696Alafs)	1282	COL4A1	Pathogenic	606231464	RCV000148943;	N	MedGen:C1843512,OMIM:607595	13	110835350	110835350	NM_001845.5:c.2085delC	NP_001836.3:p.Gly696Alafs	NC_000013.10:g.110835350delG	OMIM Allelic Variant:120130.0018	C1843512 607595 Brain small vessel disease with hemorrhage
NM_001845.5(COL4A1):c.1769G>A (p.Gly590Glu)	1282	COL4A1	Pathogenic	113994107	RCV000032213;	N	MedGen:C1843512,OMIM:607595	13	110838860	110838860	NM_001845.5:c.1769G>A	NP_001836.3:p.Gly590Glu	NC_000013.10:g.110838860C>T	-	C1843512 607595 Brain small vessel disease with hemorrhage
NM_001845.5(COL4A1):c.1685G>A (p.Gly562Glu)	1282	COL4A1	Pathogenic	121912857	RCV000018957;	N	MedGen:C1843512,OMIM:607595	13	110839528	110839528	NM_001845.5:c.1685G>A	NP_001836.3:p.Gly562Glu	NC_000013.10:g.110839528C>T	OMIM Allelic Variant:120130.0003	C1843512 607595 Brain small vessel disease with hemorrhage