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:
expandDwarfism (D004392)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandKyphosis (D007738)
Parent Node:
expandScoliosis (D012600)
..Starting node
..expandParastremmatic dwarfism (C537172)

       Child Nodes:



 Sister Nodes: 
..expandAcrodysplasia scoliosis (C538180)
..expandCervical Hypertrichosis with Underlying Kyphoscoliosis (C566142)
..expandCoffin syndrome 1 (C536435)
..expandDaish Hardman Lamont syndrome (C535770)
..expandDislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
..expandGaze Palsy, Familial Horizontal, with Progressive Scoliosis (C564593)
..expandIida Kannari syndrome (C536284)
..expandKyphoscoliosis 1 (C565711)
..expandMacrocephaly, Alopecia, Cutis Laxa, and Scoliosis (C567770)
..expandOmphalocele exstrophy imperforate anus (C537748)
..expandParastremmatic dwarfism (C537172)
..expandPilotto syndrome (C537400)
..expandPrata Libéral Gonçalves syndrome (C538277)
..expandRhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)
..expandRigid spine syndrome (C535683)
..expandScoliosis, Arachnodactyly, And Blindness (C567309)
..expandSCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1 (OMIM:181800)
..expandSCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 2 (OMIM:607354)
..expandSCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3 (OMIM:608765)
..expandSCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 4 (OMIM:612238)
..expandSCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 5 (OMIM:612239)
..expandShprintzen omphalocele syndrome (C537329)
..expandSpondylocarpotarsal synostosis (C535780)
..expandTsukahara Syndrome (C566376)
..expandWaaler Aarskog syndrome (C536461)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:8631
Name:Parastremmatic dwarfism
Definition:
Alternative IDs:OMIM:168400
ParentIDs:MESH:D004392|MESH:D007738|MESH:D008607|MESH:D012600
TreeNumbers:C05.116.099.343/C537172 |C05.116.900.800.500/C537172 |C05.116.900.800.875/C537172 |C10.597.606.643/C537172 |C16.320.240/C537172 |C19.297/C537172 |C23.888.592.604.646/C537172 |F03.550.600/C537172
Synonyms:Parastremmatic dysplasia
Slim Mappings:Endocrine system disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C537172
MeSH: C537172
OMIM: 168400;

Genes: TRPV4;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001371Flexion contracture
3 HP:0002857Genu valgum
4 HP:0002808Kyphosis
5 HP:0002650Scoliosis
6 HP:0003510Severe short stature
7 HP:0000470Short neck
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_021625.4(TRPV4):c.1781G>A (p.Arg594His)59341TRPV4Pathogenic77975504RCV000005282; RCV000005283; RCV000202560; NMedGen:C0027868,ORPHA:68381; MedGen:C0265280,OMIM:184252,ORPHA:93314; MedGen:C0410528,SNOMED CT:105986008; MedGen:C1868616,OMIM:168400,ORPHA:264612110230500110230500NM_021625.4:c.1781G>ANP_067638.3:p.Arg594HisNC_000012.11:g.110230500C>TOMIM Allelic Variant:605427.0003C0027868 Neuromuscular Diseases; C1868616 168400 Parastremmatic dwarfism; C0410528 Skeletal dysplasia; C0265280 184252 Spondylometaphyseal dysplasia, Kozlowski type