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Disease Browser
Parent Node:
expandHeredodegenerative Disorders, Nervous System (D020271)
Parent Node:
expandMuscular Atrophy, Spinal (D009134)
..Starting node
..expandScapuloperoneal Syndrome, Neurogenic, Kaeser Type (C566695)

       Child Nodes:



 Sister Nodes: 
..expandBulbo-Spinal Atrophy, X-Linked (D055534) Child1
..expandCamptocormia (C537968)
..expandDistal Hereditary Motor Neuropathy, Type II (C580044)
..expandNeuronopathy, Distal Hereditary Motor, Type I (C566675)
..expandNeuronopathy, Distal Hereditary Motor, Type IIB (C567084)
..expandNeuronopathy, Distal Hereditary Motor, Type V (C563443)
..expandNeuronopathy, Distal Hereditary Motor, Type Viib (C564362)
..expandNeuropathy, Distal Hereditary Motor, Type IIA (C563561)
..expandNeuropathy, Distal Hereditary Motor, Type VIIA (C563562)
..expandSCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
..expandScapuloperoneal Syndrome, Neurogenic, Kaeser Type (C566695)
..expandSpinal Muscular Atrophies of Childhood (D014897) Child7
..expandSpinal muscular atrophy 4 (C538417)
..expandSpinal Muscular Atrophy with Mental Retardation (C564807)
..expandSpinal muscular atrophy with respiratory distress 1 (C536880)
..expandSpinal Muscular Atrophy, Distal, Autosomal Recessive, 3 (C564626)
..expandSpinal Muscular Atrophy, Distal, Congenital Nonprogressive (C563981)
..expandSpinal Muscular Atrophy, Distal, X-Linked 3 (C564506)
..expandSpinal Muscular Atrophy, Facioscapulohumeral Type (C566674)
..expandSpinal muscular atrophy, Jerash type (C535715)
..expandSpinal Muscular Atrophy, Late-Onset, Finkel Type (C566673)
..expandSpinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant (C566672)
..expandSpinal muscular atrophy, Ryukyuan type (C536881)
..expandSpinal Muscular Atrophy, Segmental (C566670)
..expandSpinal Muscular Atrophy, Type IV (C563948)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10009
Name:Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Definition:
Alternative IDs:OMIM:181400
ParentIDs:MESH:D009134|MESH:D020271
TreeNumbers:C10.228.854.468/C566695 |C10.574.500/C566695 |C10.574.562.500/C566695 |C10.668.467.500/C566695 |C10.668.475/C566695 |C16.320.400/C566695
Synonyms:Kaeser Syndrome |SCAPULOPERONEAL SYNDROME, NEUROGENIC TYPE, OF KAESER |SCPNK |Stark-Kaeser Syndrome
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C566695
MeSH: C566695
OMIM: 181400;

Genes: DES;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0009027Foot dorsiflexor weakness
3 HP:0009049Peroneal muscle atrophy
4 HP:0003704Scapuloperoneal weakness
5 HP:0003724Shoulder girdle muscle atrophy
6 HP:0001762Talipes equinovarus
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_001927.3(DES):c.1049G>C (p.Arg350Pro)1674DESPathogenic57965306RCV000018329; RCV000056767; NMedGen:C1867005,OMIM:181400,ORPHA:85146; MedGen:CN2218092220286087220286087NM_001927.3:c.1049G>CNP_001918.3:p.Arg350ProNC_000002.11:g.220286087G>COMIM Allelic Variant:125660.0016CN221809 not provided; C1867005 181400 Scapuloperoneal syndrome, neurogenic, Kaeser type