| Disease Browser
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Parent Node:
 Basal Ganglia Diseases (D001480) | Parent Node:
Genetic Diseases, X-Linked (D040181) | Parent Node:
Intellectual Disability (D008607) | Parent Node:
Parkinson Disease (D010300) | ..Starting node
.. Parkinsonism, early onset with mental retardation (C537179)
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Child Nodes:
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Sister Nodes: | ..AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 (OMIM:105500)
| ..Paralysis Agitans, Juvenile, Of Hunt (C562469)
| ..PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
| ..Parkinson Disease 10 (C564653)
| ..Parkinson Disease 11 (C564345)
| ..PARKINSON DISEASE 11, AUTOSOMAL DOMINANT (OMIM:607688)
| ..Parkinson Disease 12 (C564486)
| ..Parkinson Disease 13 (C565204)
| ..PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:610297)
| ..PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
| ..Parkinson Disease 16 (C567726)
| ..Parkinson disease 3 (C537176)
| ..Parkinson Disease 3, Autosomal Dominant Lewy Body (C566552)
| ..Parkinson Disease 4, Autosomal Dominant Lewy Body (C565324)
| ..PARKINSON DISEASE 5, AUTOSOMAL DOMINANT (OMIM:613643)
| ..Parkinson Disease 6, Autosomal Recessive Early-Onset (C565276)
| ..Parkinson Disease 7, Autosomal Recessive Early-Onset (C565238)
| ..PARKINSON DISEASE 8, AUTOSOMAL DOMINANT (OMIM:607060)
| ..Parkinson Disease, Familial, Type 1 (C566823)
| ..PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
| ..Parkinson Disease, Mitochondrial (C564015)
| ..Parkinsonism, early onset with mental retardation (C537179)
| ..Parkinsonism-Dystonia, Infantile (C567730)
| ..Progressive supranuclear palsy atypical (C537240)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 8676 |
| 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 |C10.597.606.643/C537179 |C16.320.322/C537179 |C23.888.592.604.646/C537179 |F03.550.600/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;
Genes: RAB39B; | | Phenotypes | | | 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 | Disease_hgmd | | NC_000023.11:g.(155246216_?)_(?_155288781)del | -1 | - | Pathogenic | -1 | RCV000162073; | N | Gene:7489,MedGen:C0796195,OMIM:311510,ORPHA:2379 | X | 154474499 | 154518072 | - | - | | - | C0796195 311510 Parkinsonism, early onset with mental retardation | | | | NM_171998.3(RAB39B):c.574G>A (p.Gly192Arg) | 116442 | RAB39B | Pathogenic | 864309527 | RCV000207511; RCV000202604; | N | Gene:7489,MedGen:C0796195,OMIM:311510,ORPHA:2379; MedGen:CN234611 | X | 154490156 | 154490156 | NM_171998.3:c.574G>A | NP_741995.1:p.Gly192Arg | NC_000023.10:g.154490156C>T | OMIM Allelic Variant:300774.0004 | C0796195 311510 Parkinsonism, early onset with mental retardation; CN234611 X-linked dominant Parkinson's disease | | | | NM_171998.3(RAB39B):c.503C>A (p.Thr168Lys) | 116442 | RAB39B | Pathogenic | 587777874 | RCV000144685; RCV000150034; | N | Gene:7489,MedGen:C0796195,OMIM:311510,ORPHA:2379; MedGen:CN221809 | X | 154490227 | 154490227 | NM_171998.3:c.503C>A | NP_741995.1:p.Thr168Lys | NC_000023.10:g.154490227G>T | OMIM Allelic Variant:300774.0003 | CN221809 not provided; C0796195 311510 Parkinsonism, early onset with mental retardation | | |
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