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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

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: Cerebrovascular Disorders (D002561)
Parent Node: Skin Diseases, Vascular (D017445)
..Starting node ..Sneddon Syndrome (D018860)
Child Nodes:
Sister Nodes:
..Angioma serpiginosum, autosomal dominant (C536365)
..Angioma serpiginosum, X-linked (C536366)
..Angiomatosis, Bacillary (D016917)
..Behcet Syndrome (D001528)
..Cutis marmorata telangiectatica congenita (C536226)
..Gardner-Diamond syndrome (C535645)
..Giant Cell Arteritis (D013700) 1
..Livedo Reticularis (D054068) 1
..Malignant Atrophic Papulosis (D054853)
..Megalencephaly cutis marmorata telangiectatica congenita (C536142)
..Mucocutaneous Lymph Node Syndrome (D009080) 1
..Polyarteritis Nodosa (D010488) 1
..Pyoderma Gangrenosum (D017511) 1
..Sneddon Syndrome (D018860)
..Takayasu Arteritis (D013625)
..Urticaria (D014581) 12
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10331

Name:

Sneddon Syndrome

Definition:

A systemic non-inflammatory arteriopathy primarily of middle-aged females characterized by the association of livedo reticularis, multiple thrombotic CEREBRAL INFARCTION; CORONARY DISEASE, and HYPERTENSION. Elevation of antiphospholipid antibody titers (see also ANTIPHOSPHOLIPID SYNDROME), cardiac valvulopathy, ISCHEMIC ATTACK, TRANSIENT; SEIZURES; DEMENTIA; and chronic ischemia of the extremities may also occur. Pathologic examination of affected arteries reveals non-inflammatory adventitial fibrosis, thrombosis, and changes in the media. (From Jablonski, Dictionary of Syndromes & Eponymic Diseases, 2d ed; Adams et al., Principles of Neurology, 6th ed, p861; Arch Neurol 1997 Jan;54(1):53-60)

Alternative IDs:

ParentIDs:

MESH:D002561|MESH:D017445

TreeNumbers:

C10.228.140.300.750 |C14.907.253.774 |C17.800.862.775

Synonyms:

Slim Mappings:

Cardiovascular disease|Nervous system disease|Skin disease

Reference:

MedGen: D018860
MeSH: D018860
OMIM: 182410;

Genes: CECR1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0003613	Antiphospholipid antibody positivity
4	HP:0000965	Cutis marmorata
5	HP:0001260	Dysarthria
6	HP:0010628	Facial palsy
7	HP:0002315	Headache
8	HP:0002301	Hemiplegia
9	HP:0000822	Hypertension
10	HP:0001268	Mental deterioration
11	HP:0003676	Progressive
12	HP:0001250	Seizure
13	HP:0003745	Sporadic
14	HP:0001297	Stroke
15	HP:0001337	Tremor

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	Disease_hgmd
NM_177405.2(CECR1):c.424G>A (p.Gly142Ser)	51816	CECR1	Pathogenic	770689762	RCV000169759;	N	MedGen:C0282492,OMIM:182410,ORPHA:820,SNOMED CT:238776001	22	17663586	17663586	NM_177405.2:c.424G>A	NP_803124.1:p.Gly142Ser	NC_000022.10:g.17663586C>T	OMIM Allelic Variant:607575.0011	C0282492 182410 Idiopathic livedo reticularis with systemic involvement
NM_177405.2(CECR1):c.355A>G (p.Thr119Ala)	51816	CECR1	Pathogenic	775440641	RCV000169758;	N	MedGen:C0282492,OMIM:182410,ORPHA:820,SNOMED CT:238776001	22	17669232	17669232	NM_177405.2:c.355A>G	NP_803124.1:p.Thr119Ala	NC_000022.10:g.17669232T>C	OMIM Allelic Variant:607575.0010	C0282492 182410 Idiopathic livedo reticularis with systemic involvement