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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

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

Disease Browser
Parent Node: Gliosis (D005911)
Parent Node: Leukoencephalopathies (D056784)
..Starting node ..Gliosis, Familial Progressive Subcortical (C565634)
Child Nodes:
Sister Nodes:
..Ataxia, Spastic, 3, Autosomal Recessive (C566956)
..Brain Small Vessel Disease with Hemorrhage (C564372)
..Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (C563990)
..Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..Dementia, Vascular (D015140) 3
..Demyelinating Autoimmune Diseases, CNS (D020278) 15
..Gliosis, Familial Progressive Subcortical (C565634)
..Hereditary Central Nervous System Demyelinating Diseases (D020279) 29
..Hereditary Diffuse Leukoencephalopathy with Spheroids (C580150)
..Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism (C567313)
..Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)
..LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724)
..Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient (C566654)
..Leukoencephalopathy With Metaphyseal Chondrodysplasia (C567065)
..Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema (C563852)
..Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia (C535888)
..Leukoencephalopathy, Cystic, Without Megalencephaly (C567845)
..Leukoencephalopathy, Progressive Multifocal (D007968)
..Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy (C565361)
..Posterior Leukoencephalopathy Syndrome (D054038)
..Ribose 5-Phosphate Isomerase Deficiency (C563212)
..Telencephalic leukoencephalopathy (C536954)
..Vanishing White Matter Leukodystrophy with Ovarian Failure (C565836)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4652

Name:

Gliosis, Familial Progressive Subcortical

Definition:

Alternative IDs:

OMIM:221820

ParentIDs:

MESH:D005911|MESH:D056784

TreeNumbers:

C10.228.140.695/C565634 |C23.550.369/C565634

Synonyms:

Slim Mappings:

Nervous system disease|Pathology (process)

Reference:

MedGen: C565634
MeSH: C565634
OMIM: 221820;

Genes: CSF1R;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003581	Adult onset
3	HP:0002500	Abnormal cerebral white matter morphology
4	HP:0002186	Apraxia
5	HP:0002067	Bradykinesia
6	HP:0007305	CNS demyelination
7	HP:0000716	Depression
8	HP:0000727	Frontal lobe dementia
9	HP:0002171	Gliosis
10	HP:0001347	Hyperreflexia
11	HP:0002352	Leukoencephalopathy
12	HP:0002354	Memory impairment
13	HP:0002300	Mutism
14	HP:0002529	Neuronal loss in central nervous system
15	HP:0002172	Postural instability
16	HP:0003678	Rapidly progressive
17	HP:0002063	Rigidity
18	HP:0002362	Shuffling gait
19	HP:0001257	Spasticity

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_005211.3(CSF1R):c.2717T>C (p.Ile906Thr)	1436	CSF1R	Pathogenic	690016560	RCV000149536;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149433931	149433931	NM_005211.3:c.2717T>C	NP_005202.2:p.Ile906Thr	NC_000005.9:g.149433931A>G	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2701C>T (p.Pro901Ser)	1436	CSF1R	Pathogenic	690016553	RCV000149528;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149433947	149433947	NM_005211.3:c.2701C>T	NP_005202.2:p.Pro901Ser	NC_000005.9:g.149433947G>A	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2655-2A>G	1436	CSF1R	Pathogenic	690016554	RCV000149529;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149433995	149433995	NM_005211.3:c.2655-2A>G		NC_000005.9:g.149433995T>C	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2632C>A (p.Pro878Thr)	1436	CSF1R	Pathogenic	281860280	RCV000031937;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149434822	149434822	NM_005211.3:c.2632C>A	NP_005202.2:p.Pro878Thr	NC_000005.9:g.149434822G>T	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2629C>T (p.Gln877Ter)	1436	CSF1R	Pathogenic	690016556	RCV000149532;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149434825	149434825	NM_005211.3:c.2629C>T	NP_005202.2:p.Gln877Ter	NC_000005.9:g.149434825G>A	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2624T>C (p.Met875Thr)	1436	CSF1R	Pathogenic	281860279	RCV000022684;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149434830	149434830	NM_005211.3:c.2624T>C	NP_005202.2:p.Met875Thr	NC_000005.9:g.149434830A>G	OMIM Allelic Variant:164770.0001	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2603T>C (p.Leu868Pro)	1436	CSF1R	Pathogenic	281860278	RCV000031936;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149434851	149434851	NM_005211.3:c.2603T>C	NP_005202.2:p.Leu868Pro	NC_000005.9:g.149434851A>G	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2566T>C (p.Tyr856His)	1436	CSF1R	Pathogenic	690016552	RCV000149527;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149434888	149434888	NM_005211.3:c.2566T>C	NP_005202.2:p.Tyr856His	NC_000005.9:g.149434888A>G	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2562T>A (p.Asn854Lys)	1436	CSF1R	Pathogenic	690016565	RCV000149541;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149434892	149434892	NM_005211.3:c.2562T>A	NP_005202.2:p.Asn854Lys	NC_000005.9:g.149434892A>T	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2546_2548delTCT (p.Phe849del)	1436	CSF1R	Pathogenic	281860276	RCV000031935;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149435595	149435597	NM_005211.3:c.2546_2548delTCT	NP_005202.2:p.Phe849del	NC_000005.9:g.149435595_149435597delAGA	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2546T>C (p.Phe849Ser)	1436	CSF1R	Pathogenic	281860277	RCV000031934;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149435597	149435597	NM_005211.3:c.2546T>C	NP_005202.2:p.Phe849Ser	NC_000005.9:g.149435597A>G	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2541G>C (p.Glu847Asp)	1436	CSF1R	Pathogenic	690016551	RCV000149526;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149435602	149435602	NM_005211.3:c.2541G>C	NP_005202.2:p.Glu847Asp	NC_000005.9:g.149435602C>G	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2528T>A (p.Ile843Asn)	1436	CSF1R	Pathogenic	690016555	RCV000149531;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149435615	149435615	NM_005211.3:c.2528T>A	NP_005202.2:p.Ile843Asn	NC_000005.9:g.149435615A>T	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2527A>T (p.Ile843Phe)	1436	CSF1R	Pathogenic	690016558	RCV000149534;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149435616	149435616	NM_005211.3:c.2527A>T	NP_005202.2:p.Ile843Phe	NC_000005.9:g.149435616T>A	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2512G>C (p.Val838Leu)	1436	CSF1R	Pathogenic	690016557	RCV000149533;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149435631	149435631	NM_005211.3:c.2512G>C	NP_005202.2:p.Val838Leu	NC_000005.9:g.149435631C>G	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2509G>T (p.Asp837Tyr)	1436	CSF1R	Pathogenic	387906662	RCV000022688;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149435634	149435634	NM_005211.3:c.2509G>T	NP_005202.2:p.Asp837Tyr	NC_000005.9:g.149435634C>A	OMIM Allelic Variant:164770.0005	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2483T>C (p.Phe828Ser)	1436	CSF1R	Pathogenic	397515557	RCV000055912;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149435660	149435660	NM_005211.3:c.2483T>C	NP_005202.2:p.Phe828Ser	NC_000005.9:g.149435660A>G	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2480T>C (p.Ile827Thr)	1436	CSF1R	Pathogenic	690016550	RCV000149525;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149435663	149435663	NM_005211.3:c.2480T>C	NP_005202.2:p.Ile827Thr	NC_000005.9:g.149435663A>G	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3:c.2467C>T	1436	CSF1R	Pathogenic	690016562	RCV000149538;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149435675	149435675	NM_005211.3:c.2468C>T	NP_005202.2:p.Ala823Val	NC_000005.9:g.149435675G>A	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2450T>C (p.Leu817Pro)	1436	CSF1R	Pathogenic	690016549	RCV000149524;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149435693	149435693	NM_005211.3:c.2450T>C	NP_005202.2:p.Leu817Pro	NC_000005.9:g.149435693A>G	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2442+5G>C	1436	CSF1R	Pathogenic	281860275	RCV000031933;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149435777	149435777	NM_005211.3:c.2442+5G>C		NC_000005.9:g.149435777C>G	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2442+1G>T	1436	CSF1R	Pathogenic	587777246	RCV000106404;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149435781	149435781	NM_005211.3:c.2442+1G>T		5:g.149435781C>A	OMIM Allelic Variant:164770.0007	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2381T>C (p.Ile794Thr)	1436	CSF1R	Pathogenic	281860274	RCV000022687;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149435843	149435843	NM_005211.3:c.2381T>C	NP_005202.2:p.Ile794Thr	NC_000005.9:g.149435843A>G	OMIM Allelic Variant:164770.0004	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2378A>C (p.Lys793Thr)	1436	CSF1R	Pathogenic	690016561	RCV000149537;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149435846	149435846	NM_005211.3:c.2378A>C	NP_005202.2:p.Lys793Thr	NC_000005.9:g.149435846T>G	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2350G>A (p.Val784Met)	1436	CSF1R	Pathogenic	690016564	RCV000149540;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149435874	149435874	NM_005211.3:c.2350G>A	NP_005202.2:p.Val784Met	NC_000005.9:g.149435874C>T	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2345G>A (p.Arg782His)	1436	CSF1R	Pathogenic	281860281	RCV000031932;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149435879	149435879	NM_005211.3:c.2345G>A	NP_005202.2:p.Arg782His	NC_000005.9:g.149435879C>T	OMIM Allelic Variant:164770.0009	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2342C>A (p.Ala781Glu)	1436	CSF1R	Pathogenic	587777247	RCV000106405;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149435882	149435882	NM_005211.3:c.2342C>A	NP_005202.2:p.Ala781Glu	NC_000005.9:g.149435882G>A,NC_000005.9:g.149435882G>T	OMIM Allelic Variant:164770.0008	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2342C>T (p.Ala781Val)	1436	CSF1R	Pathogenic	587777247	RCV000149530;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149435882	149435882	NM_005211.3:c.2342C>T	NP_005202.2:p.Ala781Val	NC_000005.9:g.149435882G>A,NC_000005.9:g.149435882G>T	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2330G>A (p.Arg777Gln)	1436	CSF1R	Pathogenic	690016548	RCV000149523;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149435894	149435894	NM_005211.3:c.2330G>A	NP_005202.2:p.Arg777Gln	NC_000005.9:g.149435894C>T	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2329C>T (p.Arg777Trp)	1436	CSF1R	Pathogenic	397515556	RCV000055911;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149435895	149435895	NM_005211.3:c.2329C>T	NP_005202.2:p.Arg777Trp	NC_000005.9:g.149435895G>A	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2324T>A (p.Ile775Asn)	1436	CSF1R	Pathogenic	281860273	RCV000031931;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149435900	149435900	NM_005211.3:c.2324T>A	NP_005202.2:p.Ile775Asn	NC_000005.9:g.149435900A>T	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2320-2A>G	1436	CSF1R	Pathogenic	281860272	RCV000031930;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149435906	149435906	NM_005211.3:c.2320-2A>G		NC_000005.9:g.149435906T>C	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2308G>C (p.Ala770Pro)	1436	CSF1R	Pathogenic	281860271	RCV000031929;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149436861	149436861	NM_005211.3:c.2308G>C	NP_005202.2:p.Ala770Pro	NC_000005.9:g.149436861C>G	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2297T>C (p.Met766Thr)	1436	CSF1R	Pathogenic	281860270	RCV000031928;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149436872	149436872	NM_005211.3:c.2297T>C	NP_005202.2:p.Met766Thr	NC_000005.9:g.149436872A>G	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2294G>A (p.Gly765Asp)	1436	CSF1R	Pathogenic	690016566	RCV000149542;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149436875	149436875	NM_005211.3:c.2294G>A	NP_005202.2:p.Gly765Asp	NC_000005.9:g.149436875C>T	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.2060dupT (p.Ser688Glufs)	1436	CSF1R	Pathogenic	587777245	RCV000106403;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149439335	149439335	NM_005211.3:c.2060dupT	NP_005202.2:p.Ser688Glufs		OMIM Allelic Variant:164770.0006	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.1958G>A (p.Cys653Tyr)	1436	CSF1R	Pathogenic	397515555	RCV000055910;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149440436	149440436	NM_005211.3:c.1958G>A	NP_005202.2:p.Cys653Tyr	NC_000005.9:g.149440436C>T	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.1957T>C (p.Cys653Arg)	1436	CSF1R	Pathogenic	690016559	RCV000149535;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149440437	149440437	NM_005211.3:c.1957T>C	NP_005202.2:p.Cys653Arg	NC_000005.9:g.149440437A>G	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.1897G>A (p.Glu633Lys)	1436	CSF1R	Pathogenic	281860269	RCV000022685;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149440497	149440497	NM_005211.3:c.1897G>A	NP_005202.2:p.Glu633Lys	NC_000005.9:g.149440497C>T	OMIM Allelic Variant:164770.0002	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.1889T>G (p.Leu630Arg)	1436	CSF1R	Pathogenic	690016547	RCV000149522;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149440505	149440505	NM_005211.3:c.1889T>G	NP_005202.2:p.Leu630Arg	NC_000005.9:g.149440505A>C	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.1766G>A (p.Gly589Glu)	1436	CSF1R	Pathogenic	281860268	RCV000031927;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149441146	149441146	NM_005211.3:c.1766G>A	NP_005202.2:p.Gly589Glu	NC_000005.9:g.149441146C>T	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.1754-2A>G	1436	CSF1R	Pathogenic	281860267	RCV000022686;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149441160	149441160	NM_005211.3:c.1754-2A>G		NC_000005.9:g.149441160T>C	OMIM Allelic Variant:164770.0003	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.1745T>C (p.Leu582Pro)	1436	CSF1R	Pathogenic	690016563	RCV000149539;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149441294	149441294	NM_005211.3:c.1745T>C	NP_005202.2:p.Leu582Pro	NC_000005.9:g.149441294A>G	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids
NM_005211.3(CSF1R):c.1699delA (p.Thr567Argfs)	1436	CSF1R	Pathogenic	690016546	RCV000149521;	N	Gene:8156,MedGen:C1857300,OMIM:221820	5	149441340	149441340	NM_005211.3:c.1699delA	NP_005202.2:p.Thr567Argfs	NC_000005.9:g.149441340delT	-	C1857300 221820 Hereditary diffuse leukoencephalopathy with spheroids