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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 (C535607)
Child Nodes:
........BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
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:

371

Name:

Aicardi-Goutieres syndrome

Definition:

Alternative IDs:

OMIM:225750|OMIM:610181

ParentIDs:

MESH:D009421|MESH:D020274

TreeNumbers:

C10.114/C535607 |C10.500/C535607 |C16.131.666/C535607 |C20.111.258/C535607

Synonyms:

Slim Mappings:

Congenital abnormality|Immune system disease|Nervous system disease

Reference:

MedGen: C535607
MeSH: C535607
OMIM: 225750;

Genes: RNASEH2B; TREX1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0002071	Abnormality of extrapyramidal motor function
4	HP:0001063	Acrocyanosis
5	HP:0002135	Basal ganglia calcification
6	HP:0002059	Cerebral atrophy
7	HP:0009710	Chilblains
8	HP:0009704	Chronic CSF lymphocytosis
9	HP:0007321	Deep white matter hypodensities
10	HP:0001332	Dystonia
11	HP:0002910	Elevated hepatic transaminase
12	HP:0008872	Feeding difficulties in infancy
13	HP:0001945	Fever
14	HP:0001263	Global developmental delay
15	HP:0002240	Hepatomegaly	HP:0040283
16	HP:0001433	Hepatosplenomegaly
17	HP:0009709	Increased CSF interferon alpha
18	HP:0002187	Intellectual disability, profound
19	HP:0002352	Leukoencephalopathy
20	HP:0002062	Morphological abnormality of the pyramidal tract
21	HP:0004394	Multiple gastric polyps
22	HP:0008936	Muscular hypotonia of the trunk
23	HP:0000639	Nystagmus
24	HP:0000967	Petechiae
25	HP:0002421	Poor head control
26	HP:0002448	Progressive encephalopathy
27	HP:0000253	Progressive microcephaly
28	HP:0006579	Prolonged neonatal jaundice
29	HP:0001250	Seizure
30	HP:0001257	Spasticity
31	HP:0001744	Splenomegaly	HP:0040283
32	HP:0000486	Strabismus
33	HP:0001873	Thrombocytopenia

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_016381.5(TREX1):c.217G>A (p.Asp73Asn)	11277	TREX1	Pathogenic	121908117	RCV000114329; RCV000004404; RCV000004405;	N	MedGen:C0796126,OMIM:225750; MedGen:C3150315; MedGen:C3277619,OMIM:610448,SNOMED CT:72470008	3	48508106	48508106	NM_016381.5:c.217G>A	NP_057465.1:p.Asp73Asn	NC_000003.11:g.48508106G>A	OMIM Allelic Variant:606609.0007	C0796126 225750 Aicardi Goutieres syndrome 1; C3150315 Aicardi Goutieres syndrome 1, autosomal dominant; C3277619 610448 Chilbain lupus 1
NM_016381.5(TREX1):c.223dupG (p.Glu75Glyfs)	11277	TREX1	Pathogenic	78300695	RCV000114330;	N	MedGen:C0796126,OMIM:225750	3	48508112	48508112	NM_016381.5:c.223dupG	NP_057465.1:p.Glu75Glyfs	NC_000003.11:g.48508112dupG	-	C0796126 225750 Aicardi Goutieres syndrome 1
NM_016381.5(TREX1):c.377_378delTG (p.Val126Glyfs)	11277	TREX1	Pathogenic	797045073	RCV000191137;	N	MedGen:C0796126,OMIM:225750	3	48508265	48508267	NM_016381.5:c.377_378delTG	NP_057465.1:p.Val126Glyfs	NC_000003.11:g.48508266_48508267delTG	-	C0796126 225750 Aicardi Goutieres syndrome 1
NM_016381.5(TREX1):c.377_378dupTG (p.Ala127Trpfs)	11277	TREX1	Pathogenic	74689946	RCV000114323;	N	MedGen:C0796126,OMIM:225750	3	48508266	48508267	NM_016381.5:c.377_378dupTG	NP_057465.1:p.Ala127Trpfs	NC_000003.11:g.48508266_48508267dupTG	-	C0796126 225750 Aicardi Goutieres syndrome 1
NM_033629.4(TREX1):c.340C>T (p.Arg114Cys)	11277	TREX1	Likely pathogenic	760838030	RCV000191136;	N	MedGen:C0796126,OMIM:225750	3	48508394	48508394	NM_033629.4:c.340C>T	NP_338599.1:p.Arg114Cys	NC_000003.11:g.48508394C>T	-	C0796126 225750 Aicardi Goutieres syndrome 1
NM_016381.5(TREX1):c.506G>A (p.Arg169His)	11277	TREX1	Pathogenic;risk factor	72556554	RCV000004396; RCV000004397;	N	; MedGen:C0796126,OMIM:225750	3	48508395	48508395	NM_016381.5:c.506G>A	NP_057465.1:p.Arg169His	NC_000003.11:g.48508395G>A	OMIM Allelic Variant:606609.0001	C0796126 225750 Aicardi Goutieres syndrome 1
NM_016381.5(TREX1):c.530T>C (p.Val177Ala)	11277	TREX1	Pathogenic	79993407	RCV000114324;	N	MedGen:C0796126,OMIM:225750	3	48508419	48508419	NM_016381.5:c.530T>C	NP_057465.1:p.Val177Ala	NC_000003.11:g.48508419T>C	-	C0796126 225750 Aicardi Goutieres syndrome 1
NM_016381.5(TREX1):c.531_533dupGGC (p.Ala178_His179insAla)	11277	TREX1	Pathogenic	77371662	RCV000114325;	N	MedGen:C0796126,OMIM:225750	3	48508420	48508422	NM_016381.5:c.531_533dupGGC	NP_057465.1:p.Ala178_His179insAla	NC_000003.11:g.48508420_48508422dupGGC	-	C0796126 225750 Aicardi Goutieres syndrome 1
NM_016381.5(TREX1):c.558_573dup16 (p.Glu192Profs)	11277	TREX1	Pathogenic	74876396	RCV000114326;	N	MedGen:C0796126,OMIM:225750	3	48508447	48508462	NM_016381.5:c.558_573dup16	NP_057465.1:p.Glu192Profs	NC_000003.11:g.48508447_48508462dup16	-	C0796126 225750 Aicardi Goutieres syndrome 1
NM_016381.5(TREX1):c.562delC (p.Leu188Cysfs)	11277	TREX1	Pathogenic	78762691	RCV000114327;	N	MedGen:C0796126,OMIM:225750	3	48508451	48508451	NM_016381.5:c.562delC	NP_057465.1:p.Leu188Cysfs	NC_000003.11:g.48508451delC	-	C0796126 225750 Aicardi Goutieres syndrome 1
NM_016381.5(TREX1):c.655C>T (p.Arg219Ter)	11277	TREX1	Pathogenic	78218009	RCV000004398;	Y	MedGen:C0796126,OMIM:225750	3	48508544	48508544	NM_016381.5:c.655C>T	NP_057465.1:p.Arg219Ter	NC_000003.11:g.48508544C>T	OMIM Allelic Variant:606609.0002	C0796126 225750 Aicardi Goutieres syndrome 1
NM_016381.5(TREX1):c.665delG (p.Ser222Thrfs)	11277	TREX1	Pathogenic	76642637	RCV000114328;	N	MedGen:C0796126,OMIM:225750	3	48508554	48508554	NM_016381.5:c.665delG	NP_057465.1:p.Ser222Thrfs	NC_000003.11:g.48508554delG	-	C0796126 225750 Aicardi Goutieres syndrome 1
NM_016381.5(TREX1):c.763G>A (p.Asp255Asn)	11277	TREX1	Pathogenic	78846775	RCV000114331; RCV000004402;	N	MedGen:C0796126,OMIM:225750; MedGen:C3150315	3	48508652	48508652	NM_016381.5:c.763G>A	NP_057465.1:p.Asp255Asn	NC_000003.11:g.48508652G>A	OMIM Allelic Variant:606609.0006	C0796126 225750 Aicardi Goutieres syndrome 1; C3150315 Aicardi Goutieres syndrome 1, autosomal dominant
NM_016381.5(TREX1):c.764_766dupATG (p.Asp255dup)	11277	TREX1	Pathogenic	74556809	RCV000004399;	N	MedGen:C0796126,OMIM:225750	3	48508653	48508655	NM_016381.5:c.764_766dupATG	NP_057465.1:p.Asp255dup	NC_000003.11:g.48508653_48508655dupATG	OMIM Allelic Variant:606609.0003	C0796126 225750 Aicardi Goutieres syndrome 1
NM_016381.5(TREX1):c.767T>A (p.Val256Asp)	11277	TREX1	Pathogenic	78408272	RCV000004400;	N	MedGen:C0796126,OMIM:225750	3	48508656	48508656	NM_016381.5:c.767T>A	NP_057465.1:p.Val256Asp	NC_000003.11:g.48508656T>A	OMIM Allelic Variant:606609.0004	C0796126 225750 Aicardi Goutieres syndrome 1
NM_016381.5(TREX1):c.774_827dup54 (p.Ala276_His277insLeuLeuSerIleCysGlnTrpArgProGlnAlaLeuLeuArgTrpVa	11277	TREX1	Pathogenic	78379807	RCV000114332;	N	MedGen:C0796126,OMIM:225750	3	48508663	48508716	NM_016381.5:c.774_827dup54	NP_057465.1:p.Ala276_His277insLeuLeuSerIleCysGlnTrpArgProGlnAlaLeuLeuArgTrpValAspAla	NC_000003.11:g.48508663_48508716dup54	-	C0796126 225750 Aicardi Goutieres syndrome 1
NM_016381.5(TREX1):c.790_793dupCAGT (p.Trp265Serfs)	11277	TREX1	Pathogenic	78948846	RCV000114333;	N	MedGen:C0796126,OMIM:225750	3	48508679	48508682	NM_016381.5:c.790_793dupCAGT	NP_057465.1:p.Trp265Serfs	NC_000003.11:g.48508679_48508682dupCAGT	-	C0796126 225750 Aicardi Goutieres syndrome 1
NM_016381.5(TREX1):c.1033_1050del18 (p.Pro345_Ala350del)	11277	TREX1	Pathogenic	79318303	RCV000114334;	N	MedGen:C0796126,OMIM:225750	3	48508922	48508939	NM_016381.5:c.1033_1050del18	NP_057465.1:p.Pro345_Ala350del	NC_000003.11:g.48508922_48508939del18	-	C0796126 225750 Aicardi Goutieres syndrome 1
NM_016381.5(TREX1):c.1072A>C (p.Thr358Pro)	11277	TREX1	Pathogenic	76224909	RCV000114335;	N	MedGen:C0796126,OMIM:225750	3	48508961	48508961	NM_016381.5:c.1072A>C	NP_057465.1:p.Thr358Pro	NC_000003.11:g.48508961A>C	-	C0796126 225750 Aicardi Goutieres syndrome 1