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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: Autoimmune Diseases of the Nervous System (D020274)
Parent Node: Nervous System Malformations (D009421)
..Starting node ..Aicardi-Goutieres Syndrome 4 (C563681)
Child Nodes:
Sister Nodes:
..Agenesis of Corpus Callosum (D061085) 59
..Aicardi-Goutieres syndrome (C535607) 1
..Aicardi-Goutieres Syndrome 3 (C563683)
..Aicardi-Goutieres Syndrome 4 (C563681)
..Aicardi-Goutieres syndrome 5 (C535608)
..Athabaskan brainstem dysgenesis (C535397)
..Central Nervous System Cysts (D020863) 11
..Central Nervous System Vascular Malformations (D020785) 10
..Cerebellar Hypoplasia (C562568)
..Chromosome 17p13.3 Duplication Syndrome (C567705)
..Dandy-Walker Syndrome (D003616) 13
..Drachtman Weinblatt Sitarz syndrome (C535603)
..Hereditary Sensory and Autonomic Neuropathies (D009477) 12
..Hereditary Sensory and Motor Neuropathy (D015417) 164
..Hydranencephaly (D006832) 3
..Malformations of Cortical Development (D054220) 226
..Median-Ulnar Nerve Communications (C563598)
..Microphthalmia, Syndromic 3 (C565948)
..Microphthalmia, Syndromic 6 (C566440)
..Neural Tube Defects (D009436) 55
..Schisis association (C536633)
..Septo-Optic Dysplasia (D025962) 6
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

373

Name:

Aicardi-Goutieres Syndrome 4

Definition:

Alternative IDs:

OMIM:610333

ParentIDs:

MESH:D009421|MESH:D020274

TreeNumbers:

C10.114/C563681 |C10.500/C563681 |C16.131.666/C563681 |C20.111.258/C563681

Synonyms:

AGS4

Slim Mappings:

Congenital abnormality|Immune system disease|Nervous system disease

Reference:

MedGen: C563681
MeSH: C563681
OMIM: 610333;

Genes: RNASEH2A;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0001272	Cerebellar atrophy
4	HP:0002059	Cerebral atrophy
5	HP:0002514	Cerebral calcification
6	HP:0000444	Convex nasal ridge
7	HP:0200149	CSF lymphocytic pleiocytosis
8	HP:0003819	Death in childhood
9	HP:0001332	Dystonia
10	HP:0002910	Elevated hepatic transaminase
11	HP:0011968	Feeding difficulties
12	HP:0002240	Hepatomegaly
13	HP:0001433	Hepatosplenomegaly
14	HP:0000238	Hydrocephalus
15	HP:0001511	Intrauterine growth retardation
16	HP:0002415	Leukodystrophy
17	HP:0000369	Low-set ears
18	HP:0001876	Pancytopenia
19	HP:0000253	Progressive microcephaly
20	HP:0011344	Severe global developmental delay
21	HP:0001257	Spasticity
22	HP:0001744	Splenomegaly
23	HP:0001873	Thrombocytopenia
24	HP:0002119	Ventriculomegaly

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_006397.2(RNASEH2A):c.69G>A (p.Val23=)	10535	RNASEH2A	Pathogenic	397515480	RCV000056304;	N	MedGen:C1835912,OMIM:610333	19	12917556	12917556	NM_006397.2:c.69G>A	NP_006388.2:p.Val23=	NC_000019.9:g.12917556G>A	OMIM Allelic Variant:606034.0004	C1835912 610333 Aicardi Goutieres syndrome 4
NM_006397.2(RNASEH2A):c.75C>T (p.Arg25=)	10535	RNASEH2A	Pathogenic	397515479	RCV000056302;	N	MedGen:C1835912,OMIM:610333	19	12917562	12917562	NM_006397.2:c.75C>T	NP_006388.2:p.Arg25=	NC_000019.9:g.12917562C>T	OMIM Allelic Variant:606034.0002	C1835912 610333 Aicardi Goutieres syndrome 4
NM_006397.2(RNASEH2A):c.109G>A (p.Gly37Ser)	10535	RNASEH2A	Pathogenic	76857106	RCV000004904;	N	MedGen:C1835912,OMIM:610333	19	12917596	12917596	NM_006397.2:c.109G>A	NP_006388.2:p.Gly37Ser	NC_000019.9:g.12917596G>A	OMIM Allelic Variant:606034.0001	C1835912 610333 Aicardi Goutieres syndrome 4
NM_006397.2(RNASEH2A):c.207dupG (p.Thr70Aspfs)	10535	RNASEH2A	Pathogenic	77672568	RCV000114337;	N	MedGen:C1835912,OMIM:610333	19	12918027	12918027	NM_006397.2:c.207dupG	NP_006388.2:p.Thr70Aspfs	NC_000019.9:g.12918027dupG	-	C1835912 610333 Aicardi Goutieres syndrome 4
NM_006397.2(RNASEH2A):c.322C>T (p.Arg108Trp)	10535	RNASEH2A	Pathogenic	76436818	RCV000114338;	N	MedGen:C1835912,OMIM:610333	19	12918142	12918142	NM_006397.2:c.322C>T	NP_006388.2:p.Arg108Trp	NC_000019.9:g.12918142C>T	-	C1835912 610333 Aicardi Goutieres syndrome 4
NM_006397.2(RNASEH2A):c.556C>T (p.Arg186Trp)	10535	RNASEH2A	Pathogenic	77103971	RCV000056305;	N	MedGen:C1835912,OMIM:610333	19	12921137	12921137	NM_006397.2:c.556C>T	NP_006388.2:p.Arg186Trp	NC_000019.9:g.12921137C>T	OMIM Allelic Variant:606034.0005	C1835912 610333 Aicardi Goutieres syndrome 4
NM_006397.2(RNASEH2A):c.635A>T (p.Asn212Ile)	10535	RNASEH2A	Pathogenic	377244188	RCV000056306;	N	MedGen:C1835912,OMIM:610333	19	12921216	12921216	NM_006397.2:c.635A>T	NP_006388.2:p.Asn212Ile	NC_000019.9:g.12921216A>T	OMIM Allelic Variant:606034.0006	C1835912 610333 Aicardi Goutieres syndrome 4
NM_006397.2(RNASEH2A):c.690C>A (p.Phe230Leu)	10535	RNASEH2A	Pathogenic	79767407	RCV000114339;	N	MedGen:C1835912,OMIM:610333	19	12923949	12923949	NM_006397.2:c.690C>A	NP_006388.2:p.Phe230Leu	NC_000019.9:g.12923949C>A	-	C1835912 610333 Aicardi Goutieres syndrome 4
NM_006397.2(RNASEH2A):c.704G>A (p.Arg235Gln)	10535	RNASEH2A	Pathogenic	75718910	RCV000056303;	N	MedGen:C1835912,OMIM:610333	19	12923963	12923963	NM_006397.2:c.704G>A	NP_006388.2:p.Arg235Gln	NC_000019.9:g.12923963G>A	OMIM Allelic Variant:606034.0003	C1835912 610333 Aicardi Goutieres syndrome 4
NM_006397.2(RNASEH2A):c.716_717dupGC (p.Thr240Alafs)	10535	RNASEH2A	Pathogenic	78705193	RCV000114340;	N	MedGen:C1835912,OMIM:610333	19	12923975	12923976	NM_006397.2:c.716_717dupGC	NP_006388.2:p.Thr240Alafs	NC_000019.9:g.12923975_12923976dupGC	-	C1835912 610333 Aicardi Goutieres syndrome 4
NM_006397.2(RNASEH2A):c.719C>T (p.Thr240Met)	10535	RNASEH2A	Pathogenic	79843600	RCV000114341;	N	MedGen:C1835912,OMIM:610333	19	12923978	12923978	NM_006397.2:c.719C>T	NP_006388.2:p.Thr240Met	NC_000019.9:g.12923978C>T	-	C1835912 610333 Aicardi Goutieres syndrome 4
NM_006397.2(RNASEH2A):c.872G>A (p.Arg291His)	10535	RNASEH2A	Pathogenic	75037667	RCV000114342;	N	MedGen:C1835912,OMIM:610333	19	12924252	12924252	NM_006397.2:c.872G>A	NP_006388.2:p.Arg291His	NC_000019.9:g.12924252G>A	-	C1835912 610333 Aicardi Goutieres syndrome 4