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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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Disease Browser
Parent Node: Lipodystrophy (D008060)
Parent Node: Osteochondrodysplasias (D010009)
Parent Node: Subacute Sclerosing Panencephalitis (D013344)
..Starting node ..Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (C536329)
Child Nodes:
Sister Nodes:
..Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (C536329)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9064

Name:

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

Definition:

Alternative IDs:

OMIM:221770

ParentIDs:

MESH:D008060|MESH:D010009|MESH:D013344

TreeNumbers:

C02.182.500.300.600/C536329 |C02.290.700/C536329 |C02.782.580.600.500.500.800/C536329 |C02.839.862/C536329 |C05.116.099.708/C536329 |C10.228.228.210.150.300.600/C536329 |C10.228.228.245.340.700/C536329 |C17.800.849.391/C536329 |C18.452.584.625/C536329 |C18.452.88

Synonyms:

Slim Mappings:

Metabolic disease|Musculoskeletal disease|Nervous system disease|Skin disease|Viral disease

Reference:

MedGen: C536329
MeSH: C536329
OMIM: 221770;

Genes: TREM2; TYROBP;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001760	Abnormal foot morphology
3	HP:0002127	Abnormal upper motor neuron morphology
4	HP:0001155	Abnormality of the hand
5	HP:0000718	Aggressive behavior
6	HP:0010524	Agnosia
7	HP:0002186	Apraxia
8	HP:0003447	Axonal loss
9	HP:0003487	Babinski sign
10	HP:0002135	Basal ganglia calcification
11	HP:0012062	Bone cyst
12	HP:0002340	Caudate atrophy
13	HP:0002059	Cerebral atrophy
14	HP:0000734	Disinhibition
15	HP:0002353	EEG abnormality
16	HP:0000727	Frontal lobe dementia
17	HP:0001288	Gait disturbance
18	HP:0002171	Gliosis
19	HP:0002079	Hypoplasia of the corpus callosum
20	HP:0000757	Lack of insight
21	HP:0002352	Leukoencephalopathy
22	HP:0002354	Memory impairment
23	HP:0001336	Myoclonus
24	HP:0002167	Neurological speech impairment
25	HP:0002756	Pathologic fracture
26	HP:0011096	Peripheral demyelination
27	HP:0000751	Personality changes
28	HP:0002476	Primitive reflex
29	HP:0001250	Seizure
30	HP:0001257	Spasticity
31	HP:0000020	Urinary incontinence

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_018965.3(TREM2):c.558G>T (p.Lys186Asn)	54209	TREM2	Pathogenic	28937876	RCV000005524;	N	MedGen:C1857316,OMIM:221770,ORPHA:2770	6	41126729	41126729	NM_018965.3:c.558G>T	NP_061838.1:p.Lys186Asn	NC_000006.11:g.41126729C>A	OMIM Allelic Variant:605086.0002	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
NM_018965.3(TREM2):c.482+2T>C	54209	TREM2	Likely pathogenic	386834144	RCV000050138;	N	MedGen:C1857316,OMIM:221770,ORPHA:2770	6	41127528	41127528	NM_018965.3:c.482+2T>C		NC_000006.11:g.41127528A>G	-	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
NM_018965.3(TREM2):c.401A>G (p.Asp134Gly)	54209	TREM2	Pathogenic	28939079	RCV000005525;	N	MedGen:C1857316,OMIM:221770,ORPHA:2770	6	41127611	41127611	NM_018965.3:c.401A>G	NP_061838.1:p.Asp134Gly	NC_000006.11:g.41127611T>C	OMIM Allelic Variant:605086.0003	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
NM_018965.3(TREM2):c.377T>G (p.Val126Gly)	54209	TREM2	Pathogenic	121908402	RCV000005528;	N	MedGen:C1857316,OMIM:221770,ORPHA:2770	6	41129015	41129015	NM_018965.3:c.377T>G	NP_061838.1:p.Val126Gly	NC_000006.11:g.41129015A>C	OMIM Allelic Variant:605086.0006	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
NM_018965.3(TREM2):c.313delG (p.Ala105Argfs)	54209	TREM2	Likely pathogenic	386834141	RCV000050135;	N	MedGen:C1857316,OMIM:221770,ORPHA:2770	6	41129079	41129079	NM_018965.3:c.313delG	NP_061838.1:p.Ala105Argfs	NC_000006.11:g.41129079delC	-	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
NM_018965.3(TREM2):c.269delG (p.Gly90Valfs)	54209	TREM2	Likely pathogenic	386834140	RCV000050134;	N	MedGen:C1857316,OMIM:221770,ORPHA:2770	6	41129123	41129123	NM_018965.3:c.269delG	NP_061838.1:p.Gly90Valfs	NC_000006.11:g.41129123delC	-	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
NM_018965.3(TREM2):c.233G>A (p.Trp78Ter)	54209	TREM2	Pathogenic	104893998	RCV000005523;	N	MedGen:C1857316,OMIM:221770,ORPHA:2770	6	41129159	41129159	NM_018965.3:c.233G>A	NP_061838.1:p.Trp78Ter	NC_000006.11:g.41129159C>T	OMIM Allelic Variant:605086.0001	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
NM_018965.3(TREM2):c.197C>T (p.Thr66Met)	54209	TREM2	Pathogenic	201258663	RCV000192213;	N	MedGen:C1857316,OMIM:221770,ORPHA:2770	6	41129195	41129195	NM_018965.3:c.197C>T	NP_061838.1:p.Thr66Met	NC_000006.11:g.41129195G>A	-	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
NM_018965.3(TREM2):c.132G>A (p.Trp44Ter)	54209	TREM2	Pathogenic	104894001	RCV000005527;	N	MedGen:C1857316,OMIM:221770,ORPHA:2770	6	41129260	41129260	NM_018965.3:c.132G>A	NP_061838.1:p.Trp44Ter	NC_000006.11:g.41129260C>T	OMIM Allelic Variant:605086.0005	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
NM_018965.3(TREM2):c.113A>G (p.Tyr38Cys)	54209	TREM2	Pathogenic	797044603	RCV000192212;	N	MedGen:C1857316,OMIM:221770,ORPHA:2770	6	41129279	41129279	NM_018965.3:c.113A>G	NP_061838.1:p.Tyr38Cys	NC_000006.11:g.41129279T>C	-	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
NM_018965.3(TREM2):c.97C>T (p.Gln33Ter)	54209	TREM2	Pathogenic	104894002	RCV000005529;	N	MedGen:C1857316,OMIM:221770,ORPHA:2770	6	41129295	41129295	NM_018965.3:c.97C>T	NP_061838.1:p.Gln33Ter	NC_000006.11:g.41129295G>A	OMIM Allelic Variant:605086.0007	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
NM_018965.3(TREM2):c.40+3_40+5del	54209	TREM2	Likely pathogenic;Pathogenic	386834142	RCV000050136;	N	MedGen:C1857316,OMIM:221770,ORPHA:2770	6	41130776	41130778	NM_018965.3:c.40+3_40+5del		NC_000006.11:g.41130776_41130778delCCT	-	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
NM_018965.3(TREM2):c.40G>T (p.Glu14Ter)	54209	TREM2	Likely pathogenic	386834143	RCV000050137;	N	MedGen:C1857316,OMIM:221770,ORPHA:2770	6	41130781	41130781	NM_018965.3:c.40G>T	NP_061838.1:p.Glu14Ter	NC_000006.11:g.41130781C>A	-	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
NM_003332.3(TYROBP):c.262G>T (p.Glu88Ter)	7305	TYROBP	Likely pathogenic	386833842	RCV000049810;	N	MedGen:C1857316,OMIM:221770,ORPHA:2770	19	36398134	36398134	NM_003332.3:c.262G>T	NP_003323.1:p.Glu88Ter	NC_000019.9:g.36398134C>A	-	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
NM_003332.3(TYROBP):c.145G>C (p.Gly49Arg)	7305	TYROBP	Likely pathogenic	386833841	RCV000049809;	N	MedGen:C1857316,OMIM:221770,ORPHA:2770	19	36398432	36398432	NM_003332.3:c.145G>C	NP_003323.1:p.Gly49Arg	NC_000019.9:g.36398432C>G	-	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
NM_003332.3(TYROBP):c.141delG (p.Met48Trpfs)	7305	TYROBP	Likely pathogenic;Pathogenic	386833840	RCV000049808;	N	MedGen:C1857316,OMIM:221770,ORPHA:2770	19	36398436	36398436	NM_003332.3:c.141delG	NP_003323.1:p.Met48Trpfs	NC_000019.9:g.36398436delC	-	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
NM_003332.3(TYROBP):c.116G>A (p.Ser39Asn)	7305	TYROBP	Likely pathogenic	386833839	RCV000049807;	N	MedGen:C1857316,OMIM:221770,ORPHA:2770	19	36398461	36398461	NM_003332.3:c.116G>A	NP_003323.1:p.Ser39Asn	NC_000019.9:g.36398461C>T	-	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
NM_003332.3(TYROBP):c.2T>C (p.Met1Thr)	7305	TYROBP	Pathogenic	104894732	RCV000006153;	N	MedGen:C1857316,OMIM:221770,ORPHA:2770	19	36399129	36399129	NM_003332.3:c.2T>C	NP_003323.1:p.Met1Thr	NC_000019.9:g.36399129A>G	OMIM Allelic Variant:604142.0003	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy