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Lipodystrophy (D008060)
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Osteochondrodysplasias (D010009)
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Subacute Sclerosing Panencephalitis (D013344)
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Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (C536329)

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..expandPolycystic 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:Brain-bone-fat disease |Dementia, prefrontal, with bone cysts |Dementia, progressive, with lipomembranous polycystic osteodysplasia |Nasu-Hakola disease |NHD |Plo-Sl |PLOSL |PLOSL1 |POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 |P
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease|Skin disease|Viral disease
Reference: MedGen: C536329
MeSH: C536329
OMIM: 221770;
MSeqDR LSDB:  
Genes: TREM2; TYROBP;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002127Abnormal upper motor neuron morphology
3 HP:0001760Abnormality of the foot
4 HP:0001155Abnormality of the hand
5 HP:0000718Aggressive behavior
6 HP:0010524Agnosia
7 HP:0002186Apraxia
8 HP:0003447Axonal loss
9 HP:0003487Babinski sign
10 HP:0002135Basal ganglia calcification
11 HP:0012062Bone cyst
12 HP:0002340Caudate atrophy
13 HP:0002059Cerebral atrophy
14 HP:0000734Disinhibition
15 HP:0002353EEG abnormality
16 HP:0000727Frontal lobe dementia
17 HP:0001288Gait disturbance
18 HP:0002171Gliosis
19 HP:0002079Hypoplasia of the corpus callosum
20 HP:0000757Lack of insight
21 HP:0002352Leukoencephalopathy
22 HP:0002354Memory impairment
23 HP:0001336Myoclonus
NAMDC:  Myoclonus
24 HP:0002167Neurological speech impairment
25 HP:0002756Pathologic fracture
26 HP:0011096Peripheral demyelination
27 HP:0000751Personality changes
28 HP:0002476Primitive reflex
29 HP:0001250Seizures
NAMDC:  Seizures
30 HP:0001257Spasticity
NAMDC:  Spasticity
31 HP:0000020Urinary incontinence
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_018965.4(TREM2):c.*111A>G54209TREM2Uncertain significance753777378RCV000376374; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:277064112639141126391NC_000006.11:g.41126391T>CClinGen:CA3798776C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_018965.4(TREM2):c.632T>C (p.Leu211Pro)54209TREM2Benign/Likely benign2234256RCV000288246|RCV000593161|RCV001516643; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770|MedGen:CN169374|MedGen:C366190064112665541126655NC_000006.11:g.41126655A>GClinGen:CA3798829,UniProtKB:Q9NZC2#VAR_033626CN169374 not specified;
NM_018965.4(TREM2):c.514C>T (p.Pro172Ser)54209TREM2Conflicting interpretations of pathogenicity781302866RCV000625432|RCV001860459; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770|MedGen:CN517202641126773411267736:g.41126773G>AClinGen:CA3798846C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_018965.4(TREM2):c.482+2T>C54209TREM2Pathogenic/Likely pathogenic386834144RCV000050138|RCV001810417; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770|MONDO:MONDO:0020750,MedGen:C4748657,OMIM:618193641127528411275286:g.41127528A>GOMIM:605086.0004,ClinGen:CA264200C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_018965.4(TREM2):c.399G>T (p.Leu133=)54209TREM2Conflicting interpretations of pathogenicity144250872RCV000284005|RCV000625433|RCV001151686; NMedGen:C3661900|MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770|MONDO:MONDO:0020750,MedGen:C4748657,OMIM:618193641127613411276136:g.41127613C>AClinGen:CA3798892CN169374 not specified;
NM_018965.4(TREM2):c.377T>G (p.Val126Gly)54209TREM2Pathogenic/Likely pathogenic121908402RCV000005528|RCV000721926|RCV003398447; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770|MONDO:MONDO:0020750,MedGen:C4748657,OMIM:618193|641129015411290156:g.41129015A>CClinGen:CA340365,OMIM:605086.0006C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_018965.4(TREM2):c.313del (p.Ala105fs)54209TREM2Pathogenic386834141RCV000050135|RCV002054878; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770|MedGen:C366190064112907941129079NC_000006.11:g.41129079delClinGen:CA264196
NM_018965.4(TREM2):c.287C>A (p.Thr96Lys)54209TREM2Benign/Likely benign2234253RCV000312921|RCV000444438|RCV000591330; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770|MedGen:C3661900|MedGen:CN16937464112910541129105NC_000006.11:g.41129105G>TClinGen:CA3798933,UniProtKB:Q9NZC2#VAR_061329CN517202 not provided;
NM_018965.4(TREM2):c.269del (p.Gly90fs)54209TREM2Likely pathogenic386834140RCV000050134; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:277064112912341129123NC_000006.11:g.41129125delClinGen:CA264195
NM_018965.4(TREM2):c.233G>A (p.Trp78Ter)54209TREM2Likely pathogenic104893998RCV000005523|RCV000721925; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770|MONDO:MONDO:0020750,MedGen:C4748657,OMIM:618193641129159411291596:g.41129159C>TClinGen:CA340362,OMIM:605086.0001C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_018965.4(TREM2):c.197C>T (p.Thr66Met)54209TREM2Pathogenic201258663RCV000192213|RCV001852102; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770|MedGen:C3661900641129195411291956:g.41129195G>AClinGen:CA347275C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_018965.4(TREM2):c.185G>A (p.Arg62His)54209TREM2Benign/Likely benign143332484RCV000513870|RCV000591525|RCV000625434; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770641129207411292076:g.41129207C>TClinGen:CA3798950CN517202 not provided;
NM_018965.4(TREM2):c.113A>G (p.Tyr38Cys)54209TREM2not provided797044603RCV000192212; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770641129279411292796:g.41129279T>CClinGen:CA347272C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_018965.4(TREM2):c.97C>T (p.Gln33Ter)54209TREM2Pathogenic104894002RCV000005529|RCV000721927|RCV002512810; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770|MONDO:MONDO:0020750,MedGen:C4748657,OMIM:618193|MedGen:C3661900641129295411292956:g.41129295G>AClinGen:CA340368,OMIM:605086.0007C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_018965.4(TREM2):c.40+4_40+6del54209TREM2Pathogenic/Likely pathogenic386834142RCV000050136; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:277064113077541130777NC_000006.11:g.41130776_41130778delClinGen:CA344769
NM_018965.4(TREM2):c.40G>T (p.Glu14Ter)54209TREM2Pathogenic386834143RCV000050137|RCV000993682; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770|MONDO:MONDO:0020750,MedGen:C4748657,OMIM:618193641130781411307816:g.41130781C>AClinGen:CA264197C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.*154T>C7305TYROBPUncertain significance554715202RCV001125802; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:277019363953173639531719:g.36395317A>G-
NM_003332.4(TYROBP):c.*140T>C7305TYROBPBenign/Likely benign113207157RCV000318307|RCV001544824; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770|MedGen:C366190019363953313639533119:g.36395331A>GClinGen:CA9392973C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.*103T>A7305TYROBPUncertain significance777094340RCV000372902; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:277019363953683639536819:g.36395368A>TClinGen:CA9392981C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.*85C>T7305TYROBPUncertain significance374144427RCV000278373; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:277019363953863639538619:g.36395386G>AClinGen:CA9392984C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.*83C>T7305TYROBPBenign/Likely benign14715RCV000323398|RCV001590967; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770|MedGen:C366190019363953883639538819:g.36395388G>AClinGen:CA9392986C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.*25A>C7305TYROBPBenign1802029RCV000378071|RCV001690089; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770|MedGen:C366190019363954463639544619:g.36395446T>GClinGen:CA9392994C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.*5G>A7305TYROBPUncertain significance372703196RCV000283559; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770193639546636395466NC_000019.9:g.36395466C>TClinGen:CA9392996C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NC_000019.10:g.35905884_35911125del7305TYROBPnot provided-1RCV000192214; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770193639678536402026ClinGen:CA347278C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.262G>T (p.Glu88Ter)7305TYROBPLikely pathogenic386833842RCV000049810|RCV001853051; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770|MedGen:CN51720219363981343639813419:g.36398134C>AClinGen:CA263869C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.230-3C>T7305TYROBPUncertain significance779491857RCV001127911; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:277019363981693639816919:g.36398169G>A-
NM_003332.4(TYROBP):c.180C>G (p.Ala60=)7305TYROBPConflicting interpretations of pathogenicity199583341RCV001127912|RCV002070487; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770|MedGen:C366190019363983973639839719:g.36398397G>C-
NM_003332.4(TYROBP):c.163G>T (p.Val55Leu)7305TYROBPBenign77782321RCV000177172|RCV000347882|RCV001573780; NMedGen:CN169374|MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770|MedGen:C366190019363984143639841419:g.36398414C>AClinGen:CA202321CN169374 not specified;
NM_003332.4(TYROBP):c.145G>C (p.Gly49Arg)7305TYROBPLikely pathogenic386833841RCV000049809; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:277019363984323639843219:g.36398432C>GClinGen:CA263866C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.141del (p.Met48fs)7305TYROBPPathogenic/Likely pathogenic386833840RCV000049808; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:277019363984363639843619:g.36398436_36398436delClinGen:CA344730,OMIM:604142.0002C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.140T>C (p.Val47Ala)7305TYROBPUncertain significance372140827RCV001127913|RCV002556796; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770|MedGen:C366190019363984373639843719:g.36398437A>G-
NM_003332.4(TYROBP):c.123C>G (p.Gly41=)7305TYROBPBenign/Likely benign111477177RCV000392000|RCV001523355|RCV001726121; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770|MedGen:C3661900|MedGen:CN169374193639845436398454NC_000019.9:g.36398454G>CClinGen:CA9393095C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.116G>A (p.Ser39Asn)7305TYROBPLikely pathogenic386833839RCV000049807; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:277019363984613639846119:g.36398461C>TClinGen:CA263863C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.112G>A (p.Val38Met)7305TYROBPUncertain significance199970556RCV001127914; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:277019363984653639846519:g.36398465C>T-
NM_003332.4(TYROBP):c.111G>A (p.Thr37=)7305TYROBPConflicting interpretations of pathogenicity200694727RCV000913097|RCV001127915; NMedGen:C3661900|MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:277019363984663639846619:g.36398466C>T-
NM_003332.4(TYROBP):c.94+10G>C7305TYROBPBenign55746266RCV000289216|RCV000957742|RCV001579313; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770|MedGen:C3661900|MedGen:CN169374193639862236398622NC_000019.9:g.36398622C>GClinGen:CA9393125C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.68G>A (p.Arg23His)7305TYROBPBenign/Likely benign79272253RCV000344270|RCV000908009; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770|MedGen:C3661900193639865836398658NC_000019.9:g.36398658C>TClinGen:CA9393132C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.46C>T (p.Leu16=)7305TYROBPConflicting interpretations of pathogenicity147393700RCV000907954|RCV001122155; NMedGen:C3661900|MONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:277019363990853639908519:g.36399085G>A-
NM_003332.4(TYROBP):c.2T>C (p.Met1Thr)7305TYROBPPathogenic104894732RCV000006153; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:277019363991293639912919:g.36399129A>GClinGen:CA340459,OMIM:604142.0003C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.-34C>T7305TYROBPUncertain significance199931680RCV000404107; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770193639916436399164NC_000019.9:g.36399164G>AClinGen:CA9393172C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
NM_003332.4(TYROBP):c.-50G>A7305TYROBPUncertain significance371441146RCV000314231; NMONDO:MONDO:0020749,MedGen:C4721893,OMIM:221770, Orphanet:2770193639918036399180NC_000019.9:g.36399180C>TClinGen:CA10642652C1857316 221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;
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