Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandDystonic Disorders (D020821)
Parent Node:
expandParkinson Disease (D010300)
..Starting node
..expandParkinsonism-Dystonia, Infantile (C567730)

       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 (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 3 (C537176)
..expandParkinson Disease 3, Autosomal Dominant Lewy Body (C566552)
..expandParkinson Disease 4, Autosomal Dominant Lewy Body (C565324)
..expandPARKINSON DISEASE 5, AUTOSOMAL DOMINANT (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)
..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, CTD
Term ID:8675
Name:Parkinsonism-Dystonia, Infantile
Definition:
Alternative IDs:OMIM:613135
ParentIDs:MESH:D010300|MESH:D020821
TreeNumbers:C10.228.140.079.862.500/C567730 |C10.228.662.300/C567730 |C10.228.662.600.400/C567730 |C10.574.812/C567730
Synonyms:DOPAMINE TRANSPORTER DEFICIENCY SYNDROME |DTDS |PKDYS
Slim Mappings:Nervous system disease
Reference: MedGen: C567730
MeSH: C567730
OMIM: 613135;

Genes: SLC6A3;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0007256Abnormal pyramidal sign
4 HP:0002067Bradykinesia
5 HP:0002072Chorea
6 HP:0002019Constipation
7 HP:0002194Delayed gross motor development
8 HP:0100660Dyskinesia
9 HP:0011968Feeding difficulties
10 HP:0002020Gastroesophageal reflux
11 HP:0001263Global developmental delay
12 HP:0001276Hypertonia
13 HP:0002451Limb dystonia
14 HP:0002062Morphological abnormality of the pyramidal tract
15 HP:0008936Muscular hypotonia of the trunk
16 HP:0001300Parkinsonism
17 HP:0003676Progressive
18 HP:0002063Rigidity
19 HP:0001337Tremor
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_001044.4(SLC6A3):c.1561C>T (p.Arg521Trp)6531SLC6A3Pathogenic431905516RCV000083264; NMedGen:C2751067,OMIM:613135,ORPHA:238455514063411406341NM_001044.4:c.1561C>TNP_001035.1:p.Arg521TrpNC_000005.9:g.1406341G>AOMIM Allelic Variant:126455.0007C2751067 613135 Infantile Parkinsonism-dystonia
NM_001044.4(SLC6A3):c.1269+1G>A6531SLC6A3Pathogenic431905504RCV000022531; NMedGen:C2751067,OMIM:613135,ORPHA:238455514113571411357NM_001044.4:c.1269+1G>ANC_000005.9:g.1411357C>TOMIM Allelic Variant:126455.0004C2751067 613135 Infantile Parkinsonism-dystonia
NM_001044.4(SLC6A3):c.1184C>T (p.Pro395Leu)6531SLC6A3Pathogenic267607069RCV000018250; NMedGen:C2751067,OMIM:613135,ORPHA:238455514114431411443NM_001044.4:c.1184C>TNP_001035.1:p.Pro395LeuNC_000005.9:g.1411443G>AOMIM Allelic Variant:126455.0003C2751067 613135 Infantile Parkinsonism-dystonia
NM_001044.4(SLC6A3):c.1103T>A (p.Leu368Gln)6531SLC6A3Pathogenic267607068RCV000018249; NMedGen:C2751067,OMIM:613135,ORPHA:238455514148591414859NM_001044.4:c.1103T>ANP_001035.1:p.Leu368GlnNC_000005.9:g.1414859A>TOMIM Allelic Variant:126455.0002C2751067 613135 Infantile Parkinsonism-dystonia
NM_001044.4(SLC6A3):c.1031+1G>A6531SLC6A3Pathogenic431905514RCV000083262; NMedGen:C2751067,OMIM:613135,ORPHA:238455514162121416212NM_001044.4:c.1031+1G>ANC_000005.9:g.1416212C>TOMIM Allelic Variant:126455.0005C2751067 613135 Infantile Parkinsonism-dystonia
NM_001044.4(SLC6A3):c.671T>C (p.Leu224Pro)6531SLC6A3Pathogenic431905515RCV000083263; NMedGen:C2751067,OMIM:613135,ORPHA:238455514221121422112NM_001044.4:c.671T>CNP_001035.1:p.Leu224ProNC_000005.9:g.1422112A>GOMIM Allelic Variant:126455.0006C2751067 613135 Infantile Parkinsonism-dystonia