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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

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,ClinVar, CTD

Term ID:

9989

Name:

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

Definition:

Alternative IDs:

DO:DOID:0090112|OMIM:221770

ParentIDs:

MESH:D008060|MESH:D010009|MESH:D013344

TreeNumbers:

C02.182.525.600/C536329 |C02.290.700/C536329 |C02.782.580.600.500.500.800/C536329 |C02.839.862/C536329 |C05.116.099.708/C536329 |C10.228.140.430.520.750.600/C536329 |C10.228.228.245.340.600/C536329 |C10.228.228.399.750.600/C536329 |C16.320.728/C536329 |C17.800.84

Synonyms:

Slim Mappings:

Reference:

MedGen: C536329
MeSH: C536329
OMIM: 221770;
MSeqDR :
Genes: TREM2; TYROBP;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002127	Abnormal upper motor neuron morphology
3	HP:0001760	Abnormality of the foot
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 NAMDC: 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	Seizures NAMDC: Seizures
30	HP:0001257	Spasticity NAMDC: Spasticity
31	HP:0000020	Urinary incontinence

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_018965.4(TREM2):c.*111A>G	54209	TREM2	Uncertain significance	rs753777378	RCV000376374;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770	6	41126391	41126391	NC_000006.11:g.41126391T>C	ClinGen:CA3798776	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_018965.4(TREM2):c.632T>C (p.Leu211Pro)	54209	TREM2	Benign/Likely benign	rs2234256	RCV000288246\|RCV000593161\|RCV001516643;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770\|MedGen:CN169374\|MedGen:CN517202	6	41126655	41126655	NC_000006.11:g.41126655A>G	ClinGen:CA3798829,UniProtKB:Q9NZC2#VAR_033626	CN169374 not specified;
NM_018965.4(TREM2):c.514C>T (p.Pro172Ser)	54209	TREM2	Conflicting interpretations of pathogenicity	rs781302866	RCV000625432\|RCV001860459;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770\|MedGen:CN517202	6	41126773	41126773	6:g.41126773G>A	ClinGen:CA3798846	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_018965.4(TREM2):c.482+2T>C	54209	TREM2	Pathogenic/Likely pathogenic	rs386834144	RCV000050138\|RCV001810417;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770\|MONDO:MONDO:0020750,MedGen:C4748657,OMIM:618193	6	41127528	41127528	6:g.41127528A>G	ClinGen:CA264200,OMIM:605086.0004	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_018965.4(TREM2):c.399G>T (p.Leu133=)	54209	TREM2	Conflicting interpretations of pathogenicity	rs144250872	RCV000284005\|RCV000625433\|RCV001151686;	N	MedGen:CN517202\|MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770\|MONDO:MONDO:0020750,MedGen:C4748657,OMIM:618193	6	41127613	41127613	6:g.41127613C>A	ClinGen:CA3798892	CN169374 not specified;
NM_018965.4(TREM2):c.377T>G (p.Val126Gly)	54209	TREM2	Likely pathogenic	rs121908402	RCV000005528\|RCV000721926;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770\|MONDO:MONDO:0020750,MedGen:C4748657,OMIM:618193	6	41129015	41129015	6:g.41129015A>C	ClinGen:CA340365,OMIM:605086.0006	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_018965.4(TREM2):c.313del (p.Ala105fs)	54209	TREM2	Pathogenic	rs386834141	RCV000050135\|RCV002054878;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770\|MedGen:CN517202	6	41129079	41129079	NC_000006.11:g.41129079del	ClinGen:CA264196
NM_018965.4(TREM2):c.287C>A (p.Thr96Lys)	54209	TREM2	Benign/Likely benign	rs2234253	RCV000312921\|RCV000444438\|RCV000591330;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770\|MedGen:CN517202\|MedGen:CN169374	6	41129105	41129105	NC_000006.11:g.41129105G>T	ClinGen:CA3798933,UniProtKB:Q9NZC2#VAR_061329	CN517202 not provided;
NM_018965.4(TREM2):c.269del (p.Gly90fs)	54209	TREM2	Likely pathogenic	rs386834140	RCV000050134;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770	6	41129123	41129123	NC_000006.11:g.41129125del	ClinGen:CA264195
NM_018965.4(TREM2):c.233G>A (p.Trp78Ter)	54209	TREM2	Likely pathogenic	rs104893998	RCV000005523\|RCV000721925;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770\|MONDO:MONDO:0020750,MedGen:C4748657,OMIM:618193	6	41129159	41129159	6:g.41129159C>T	ClinGen:CA340362,OMIM:605086.0001	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_018965.4(TREM2):c.197C>T (p.Thr66Met)	54209	TREM2	Pathogenic	rs201258663	RCV000192213\|RCV001852102;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770\|MedGen:CN517202	6	41129195	41129195	6:g.41129195G>A	ClinGen:CA347275	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_018965.4(TREM2):c.185G>A (p.Arg62His)	54209	TREM2	Benign/Likely benign	rs143332484	RCV000513870\|RCV000625434\|RCV000591525;	N	MedGen:CN517202\|MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770\|MedGen:CN169374	6	41129207	41129207	6:g.41129207C>T	ClinGen:CA3798950	CN517202 not provided;
NM_018965.4(TREM2):c.113A>G (p.Tyr38Cys)	54209	TREM2	not provided	rs797044603	RCV000192212;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770	6	41129279	41129279	6:g.41129279T>C	ClinGen:CA347272	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_018965.4(TREM2):c.97C>T (p.Gln33Ter)	54209	TREM2	Pathogenic	rs104894002	RCV000005529\|RCV000721927\|RCV002512810;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770\|MONDO:MONDO:0020750,MedGen:C4748657,OMIM:618193\|MedGen:CN517202	6	41129295	41129295	6:g.41129295G>A	ClinGen:CA340368,OMIM:605086.0007	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_018965.4(TREM2):c.40+4_40+6del	54209	TREM2	Pathogenic/Likely pathogenic	rs386834142	RCV000050136;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770	6	41130775	41130777	NC_000006.11:g.41130776_41130778del	ClinGen:CA344769
NM_018965.4(TREM2):c.40G>T (p.Glu14Ter)	54209	TREM2	Pathogenic	rs386834143	RCV000050137\|RCV000993682;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770\|MONDO:MONDO:0020750,MedGen:C4748657,OMIM:618193	6	41130781	41130781	6:g.41130781C>A	ClinGen:CA264197	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.*154T>C	7305	TYROBP	Uncertain significance	rs554715202	RCV001125802;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770	19	36395317	36395317	19:g.36395317A>G	-
NM_003332.4(TYROBP):c.*140T>C	7305	TYROBP	Benign/Likely benign	rs113207157	RCV000318307\|RCV001544824;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770\|MedGen:CN517202	19	36395331	36395331	19:g.36395331A>G	ClinGen:CA9392973	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.*103T>A	7305	TYROBP	Uncertain significance	rs777094340	RCV000372902;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770	19	36395368	36395368	19:g.36395368A>T	ClinGen:CA9392981	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.*85C>T	7305	TYROBP	Uncertain significance	rs374144427	RCV000278373;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770	19	36395386	36395386	19:g.36395386G>A	ClinGen:CA9392984	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.*83C>T	7305	TYROBP	Benign/Likely benign	rs14715	RCV000323398\|RCV001590967;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770\|MedGen:CN517202	19	36395388	36395388	19:g.36395388G>A	ClinGen:CA9392986	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.*25A>C	7305	TYROBP	Benign	rs1802029	RCV000378071\|RCV001690089;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770\|MedGen:CN517202	19	36395446	36395446	19:g.36395446T>G	ClinGen:CA9392994	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.*5G>A	7305	TYROBP	Uncertain significance	rs372703196	RCV000283559;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770	19	36395466	36395466	NC_000019.9:g.36395466C>T	ClinGen:CA9392996	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NG_009304.1:g.2160_7401del	7305	TYROBP	not provided	-1	RCV000192214;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770	19	36396785	36402026	NC_000019.9:g.36396786_36402027del	ClinGen:CA347278	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.262G>T (p.Glu88Ter)	7305	TYROBP	Likely pathogenic	rs386833842	RCV000049810\|RCV001853051;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770\|MedGen:CN517202	19	36398134	36398134	19:g.36398134C>A	ClinGen:CA263869	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.230-3C>T	7305	TYROBP	Uncertain significance	rs779491857	RCV001127911;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770	19	36398169	36398169	19:g.36398169G>A	-
NM_003332.4(TYROBP):c.180C>G (p.Ala60=)	7305	TYROBP	Conflicting interpretations of pathogenicity	rs199583341	RCV001127912\|RCV002070487;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770\|MedGen:CN517202	19	36398397	36398397	19:g.36398397G>C	-
NM_003332.4(TYROBP):c.163G>T (p.Val55Leu)	7305	TYROBP	Benign	rs77782321	RCV000177172\|RCV000347882\|RCV001573780;	N	MedGen:CN169374\|MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770\|MedGen:CN517202	19	36398414	36398414	19:g.36398414C>A	ClinGen:CA202321	CN169374 not specified;
NM_003332.4(TYROBP):c.145G>C (p.Gly49Arg)	7305	TYROBP	Likely pathogenic	rs386833841	RCV000049809;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770	19	36398432	36398432	19:g.36398432C>G	ClinGen:CA263866	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.141del (p.Met48fs)	7305	TYROBP	Pathogenic/Likely pathogenic	rs386833840	RCV000049808;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770	19	36398436	36398436	19:g.36398436_36398436del	ClinGen:CA344730,OMIM:604142.0002	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.140T>C (p.Val47Ala)	7305	TYROBP	Uncertain significance	rs372140827	RCV001127913\|RCV002556796;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770\|MedGen:CN517202	19	36398437	36398437	19:g.36398437A>G	-
NM_003332.4(TYROBP):c.123C>G (p.Gly41=)	7305	TYROBP	Benign/Likely benign	rs111477177	RCV000392000\|RCV001523355\|RCV001726121;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770\|MedGen:CN517202\|MedGen:CN169374	19	36398454	36398454	NC_000019.9:g.36398454G>C	ClinGen:CA9393095	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.116G>A (p.Ser39Asn)	7305	TYROBP	Likely pathogenic	rs386833839	RCV000049807;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770	19	36398461	36398461	19:g.36398461C>T	ClinGen:CA263863	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.112G>A (p.Val38Met)	7305	TYROBP	Uncertain significance	rs199970556	RCV001127914;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770	19	36398465	36398465	19:g.36398465C>T	-
NM_003332.4(TYROBP):c.111G>A (p.Thr37=)	7305	TYROBP	Conflicting interpretations of pathogenicity	rs200694727	RCV000913097\|RCV001127915;	N	MedGen:CN517202\|MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770	19	36398466	36398466	19:g.36398466C>T	-
NM_003332.4(TYROBP):c.94+10G>C	7305	TYROBP	Benign	rs55746266	RCV000289216\|RCV000957742\|RCV001579313;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770\|MedGen:CN517202\|MedGen:CN169374	19	36398622	36398622	NC_000019.9:g.36398622C>G	ClinGen:CA9393125	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.68G>A (p.Arg23His)	7305	TYROBP	Benign/Likely benign	rs79272253	RCV000344270\|RCV000908009;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770\|MedGen:CN517202	19	36398658	36398658	NC_000019.9:g.36398658C>T	ClinGen:CA9393132	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.46C>T (p.Leu16=)	7305	TYROBP	Conflicting interpretations of pathogenicity	rs147393700	RCV000907954\|RCV001122155;	N	MedGen:CN517202\|MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770	19	36399085	36399085	19:g.36399085G>A	-
NM_003332.4(TYROBP):c.2T>C (p.Met1Thr)	7305	TYROBP	Pathogenic	rs104894732	RCV000006153;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770	19	36399129	36399129	19:g.36399129A>G	ClinGen:CA340459,OMIM:604142.0003	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.-34C>T	7305	TYROBP	Uncertain significance	rs199931680	RCV000404107;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770	19	36399164	36399164	NC_000019.9:g.36399164G>A	ClinGen:CA9393172	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.-50G>A	7305	TYROBP	Uncertain significance	rs371441146	RCV000314231;	N	MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770	19	36399180	36399180	NC_000019.9:g.36399180C>T	ClinGen:CA10642652	C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;

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