MSeqDR Mitochondrial Disease Portal


 
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Basal Ganglia Diseases (D001480)
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Genetic Diseases, X-Linked (D040181)
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Intellectual Disability (D008607)
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Parkinson Disease (D010300)
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Parkinsonism, early onset with mental retardation (C537179)

       Child Nodes:



 Sister Nodes: 
..expandAMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 (OMIM:105500)
..expandParalysis Agitans, Juvenile, Of Hunt (C562469)
..expandPARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
..expandParkinson Disease 10 (C564653)
..expandParkinson Disease 11 (C564345)
..expandPARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:607688)
..expandParkinson Disease 12 (C564486)
..expandParkinson Disease 13 (C565204)
..expandPARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:610297)
..expandPARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
..expandParkinson Disease 16 (C567726)
..expandPARKINSON DISEASE 17 (OMIM:614203)
..expandPARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:614251)
..expandPARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
..expandPARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
..expandPARKINSON DISEASE 21 (OMIM:616361)
..expandPARKINSON DISEASE 22, AUTOSOMAL DOMINANT (OMIM:616710)
..expandPARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
..expandParkinson disease 3 (C537176)
..expandParkinson Disease 3, Autosomal Dominant Lewy Body (C566552)
..expandParkinson Disease 4, Autosomal Dominant Lewy Body (C565324)
..expandPARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:613643)
..expandParkinson Disease 6, Autosomal Recessive Early-Onset (C565276)
..expandParkinson Disease 7, Autosomal Recessive Early-Onset (C565238)
..expandPARKINSON DISEASE 8, AUTOSOMAL DOMINANT (OMIM:607060)
..expandParkinson Disease, Familial, Type 1 (C566823)
..expandPARKINSON DISEASE, LATE-ONSET (OMIM:168600)
..expandParkinson Disease, Mitochondrial (C564015)  LSDB  L: 00170;
..expandParkinsonism, early onset with mental retardation (C537179)
..expandParkinsonism-Dystonia, Infantile (C567730)
..expandProgressive supranuclear palsy atypical (C537240)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:9571
Name:Parkinsonism, early onset with mental retardation
Definition:
Alternative IDs:OMIM:311510
ParentIDs:MESH:D001480|MESH:D008607|MESH:D010300|MESH:D040181
TreeNumbers:C10.228.140.079.862.500/C537179 |C10.228.140.079/C537179 |C10.228.662.600.400/C537179 |C10.574.812/C537179 |C10.597.606.360/C537179 |C16.320.322/C537179 |C23.888.592.604.646/C537179 |F03.625.539/C537179
Synonyms:Basal ganglia disorder with mental retardation |Basal Ganglion Disorder With Mental Retardation |BGMR |Laxova Brown Hogan syndrome |Parkinsonism, Early-Onset, With Mental Retardation |Waisman syndrome |WSMN |WSN |X-linked recessive basal ganglia disorder with me
Slim Mappings:Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms
Reference: MedGen: C537179
MeSH: C537179
OMIM: 311510;
MSeqDR LSDB:  
Genes: RAB39B;
Phenotypes
1 HP:0001419X-linked recessive inheritance
2 HP:0002067Bradykinesia
3 HP:0002396Cogwheel rigidity
4 HP:0000726Dementia
NAMDC:  Dementia
HP:0040283
5 HP:0001260Dysarthria
NAMDC:  Dysarthria
6 HP:0100660Dyskinesia
7 HP:0002007Frontal bossing
8 HP:0001263Global developmental delay
NAMDC:  Mental retardation
9 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
10 HP:0001249Intellectual disability
11 HP:0000256Macrocephaly
12 HP:0001355Megalencephaly
13 HP:0001300Parkinsonism
NAMDC:  Parkinsonism
14 HP:0002465Poor speech
15 HP:0002322Resting tremor
16 HP:0001250Seizures
NAMDC:  Seizures
17 HP:0002362Shuffling gait
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000023.11:g.(155246216_?)_(?_155288781)del116442RAB39BPathogenic-1RCV000162073; NMONDO:MONDO:0010709,MedGen:C0796195,OMIM:311510, Orphanet:2379X154474499154518072nana-C0796195 311510 Parkinsonism, early onset with mental retardation;
NM_171998.4(RAB39B):c.574G>A (p.Gly192Arg)116442RAB39BPathogenicrs864309527RCV000202604|RCV000207511; NMedGen:CN234611|MONDO:MONDO:0010709,MedGen:C0796195,OMIM:311510, Orphanet:2379X154490156154490156CTNC_000023.10:g.154490156C>TClinGen:CA248590,OMIM:300774.0004C0796195 311510 Parkinsonism, early onset with mental retardation;
NM_171998.4(RAB39B):c.503C>A (p.Thr168Lys)116442RAB39BPathogenicrs587777874RCV000144685|RCV000150034; NMedGen:CN517202|MONDO:MONDO:0010709,MedGen:C0796195,OMIM:311510, Orphanet:2379X154490227154490227GTNC_000023.10:g.154490227G>TClinGen:CA175112,UniProtKB:Q96DA2#VAR_073264,OMIM:300774.0003CN517202 not provided;
NM_171998.4(RAB39B):c.386C>T (p.Thr129Ile)116442RAB39BUncertain significancers1557314226RCV001289161|RCV001839039; NMedGen:CN517202|MONDO:MONDO:0010289,MedGen:C1846038,OMIM:300271, Orphanet:777; MONDO:MONDO:0010709,MedGen:C0796195,OMIM:311510, Orphanet:2379X154490344154490344GA154490344-
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