MSeqDR Mitochondrial Disease Portal


 
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Brachydactyly (D059327)
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Deafness (D003638)
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Intellectual Disability (D008607)
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Mouth Abnormalities (D009056)
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Tooth Abnormalities (D014071)
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Temtamy preaxial brachydactyly syndrome (C536958)

       Child Nodes:



 Sister Nodes: 
..expandAckerman syndrome (C538170)
..expandAnodontia (D000848) Child29
..expandAREDYLD Syndrome (C537427)
..expandBlepharo-cheilo-dontic syndrome (C536188)
..expandBook Syndrome (C562993)
..expandCarabelli Anomaly of Maxillary Molar Teeth (C566175)
..expandCleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only (C563974)
..expandCODAS syndrome (C536434)
..expandCRANIOSYNOSTOSIS AND DENTAL ANOMALIES (OMIM:614188)
..expandDeafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
..expandDeafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (C565195)
..expandDens in Dente (D003719) Child1
..expandDental Enamel Hypoplasia (D003744) Child29
..expandDentin Dysplasia (D003805) Child3
..expandDentinogenesis Imperfecta (D003811) Child7
..expandDermoodontodysplasia (C565103)
..expandDiastema (D003970) Child1
..expandEuhidrotic ectodermal dysplasia (C535763)
..expandFacial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification (C567039)
..expandFaciocardiomelic Dysplasia, Lethal (C565578)
..expandFused Teeth (D005671)
..expandGrubben de Cock Borghgraef syndrome (C537621)
..expandHypoglossia-Hypodactylia (C566308)
..expandIridogoniodysgenesis, dominant type (C535536)
..expandKallmann Syndrome 2 with Selective Tooth Agenesis (C566948)
..expandKBG syndrome (C537015)
..expandLacrimoauriculodentodigital syndrome (C538132)
..expandLarsen syndrome, dominant type (C537873)
..expandNance-Horan syndrome (C538336)
..expandOculodentodigital Dysplasia (C563160)
..expandOculodentodigital Dysplasia, Autosomal Recessive (C567605)
..expandOculotrichodysplasia (C564934)
..expandOdontodysplasia (D018126) Child3
..expandOdontomicronychial dysplasia (C537741)
..expandOdontotrichoungual-Digital-Palmar Syndrome (C566598)
..expandOroacral Syndrome, Verloes-Koulischer Type (C566374)
..expandOtodental Dysplasia (C563482)
..expandPolydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..expandRodrigues blindness (C535865)
..expandSpondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)
..expandTaurodontism (C536946)
..expandTaurodontism, microdontia, and dens invaginatus (C536947)
..expandTeeth noneruption of with maxillary hypoplasia and genu valgum (C536952)
..expandTeeth, Odd Shapes Of (C566076)
..expandTemtamy preaxial brachydactyly syndrome (C536958)
..expandTOOTH AGENESIS, SELECTIVE, 7 (OMIM:616724)
..expandTOOTH AGENESIS, SELECTIVE, 8 (OMIM:617073)
..expandTOOTH AGENESIS, SELECTIVE, 9 (OMIM:617275)
..expandTooth, Supernumerary (D014096) Child3
..expandTricho-dento-osseous syndrome 1 (C536550)
..expandTRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
..expandWeyers acrofacial dysostosis (C536695)
..expandZazam Sheriff Phillips syndrome (C536723)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:11979
Name:Temtamy preaxial brachydactyly syndrome
Definition:
Alternative IDs:OMIM:605282
ParentIDs:MESH:D003638|MESH:D008607|MESH:D009056|MESH:D014071|MESH:D059327
TreeNumbers:C05.660.585.262/C536958 |C07.465.525/C536958 |C07.650.525/C536958 |C07.650.800/C536958 |C07.793.700/C536958 |C09.218.458.341.186/C536958 |C10.597.606.360/C536958 |C10.597.751.418.341.186/C536958 |C16.131.621.585.262/C536958 |C16.131.850.525/C536958 |C16.131.850.80
Synonyms:Preaxial brachydactyly syndrome, Temtamy type |TPBS
Slim Mappings:Congenital abnormality|Ear-nose-throat disease|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C536958
MeSH: C536958
OMIM: 605282;
MSeqDR LSDB:  
Genes: CHSY1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0008619Bilateral sensorineural hearing impairment
3 HP:0000592Blue scleraeHP:0040283
4 HP:0001156Brachydactyly
5 HP:0009702Carpal synostosis
6 HP:0000175Cleft palateHP:0040283
7 HP:0030084Clinodactyly
8 HP:0002002Deep philtrum
9 HP:0000699Diastema
10 HP:0002553Highly arched eyebrow
11 HP:0001234Hitchhiker thumb
12 HP:0000691Microdontia
13 HP:0000648Optic atrophyHP:0040283
14 HP:0002974Radioulnar synostosisHP:0040283
15 HP:0010049Short metacarpal
16 HP:0010743Short metatarsal
17 HP:0001159Syndactyly
18 HP:0000664Synophrys
19 HP:0011087Talon cusp
20 HP:0008368Tarsal synostosis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_014918.5(CHSY1):c.2335G>A (p.Glu779Lys)22856CHSY1Uncertain significance-1RCV001217736; NMONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101717667101717667CT15:g.101717667C>T-
NM_014918.5(CHSY1):c.2320A>G (p.Thr774Ala)22856CHSY1Uncertain significance-1RCV001241511; NMONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101717682101717682TC15:g.101717682T>C-
NM_014918.5(CHSY1):c.2088G>A (p.Thr696=)22856CHSY1Benign/Likely benignrs150245745RCV000388383|RCV000968999; NMedGen:CN169374|MONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101717914101717914CT15:g.101717914C>TClinGen:CA7762414CN169374 not specified;
NM_014918.5(CHSY1):c.1896C>T (p.Val632=)22856CHSY1Benignrs3803423RCV000535310|RCV000991806; NMONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:363417|MedGen:CN51720215101718106101718106GA15:g.101718106G>AClinGen:CA7762441C1854466 605282 Temtamy preaxial brachydactyly syndrome;
NM_014918.5(CHSY1):c.1812G>A (p.Val604=)22856CHSY1Benignrs3803422RCV000559109|RCV000991805; NMONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:363417|MedGen:CN51720215101718190101718190CT15:g.101718190C>TClinGen:CA7762457C1854466 605282 Temtamy preaxial brachydactyly syndrome;
NM_014918.5(CHSY1):c.1725C>T (p.Asp575=)22856CHSY1Benignrs151237975RCV000970722; NMONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101718277101718277GA15:g.101718277G>A-
NM_014918.5(CHSY1):c.1616C>G (p.Pro539Arg)22856CHSY1Pathogenicrs387906985RCV000023692; NMONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101718386101718386GC15:g.101718386G>CClinGen:CA129411,UniProtKB:Q86X52#VAR_065822,OMIM:608183.0005C1854466 605282 Temtamy preaxial brachydactyly syndrome;
NM_014918.5(CHSY1):c.1602A>T (p.Ile534=)22856CHSY1Conflicting interpretations of pathogenicityrs146586939RCV000328578|RCV001078808; NMedGen:CN517202|MONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101718400101718400TA15:g.101718400T>AClinGen:CA7762497CN169374 not specified;
NM_014918.5(CHSY1):c.1600A>T (p.Ile534Leu)22856CHSY1Uncertain significance-1RCV001218970; NMONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101718402101718402TA15:g.101718402T>A-
NM_014918.5(CHSY1):c.1566G>A (p.Ser522=)22856CHSY1Benignrs74784454RCV000969000; NMONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101718436101718436CT15:g.101718436C>T-
NM_014918.5(CHSY1):c.1555C>A (p.Leu519Ile)22856CHSY1Likely benignrs754947736RCV000964349; NMONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101718447101718447GT15:g.101718447G>T-
NM_014918.5(CHSY1):c.1518T>C (p.Phe506=)22856CHSY1Benignrs145002451RCV000969380; NMONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101718484101718484AG15:g.101718484A>G-
NM_014918.5(CHSY1):c.1473A>G (p.Gln491=)22856CHSY1Benignrs76457230RCV000546831|RCV000991804; NMONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:363417|MedGen:CN51720215101718529101718529TC15:g.101718529T>CClinGen:CA7762521C1854466 605282 Temtamy preaxial brachydactyly syndrome;
NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr)22856CHSY1Benign/Likely benignrs148193087RCV000323270|RCV000711206|RCV001087588; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101718677101718677AG15:g.101718677A>GClinGen:CA7762551CN169374 not specified;
NM_014918.5(CHSY1):c.1312C>T (p.Arg438Trp)22856CHSY1Uncertain significancers773396835RCV000800614; NMONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101718690101718690GA15:g.101718690G>A-
NM_014918.5(CHSY1):c.1218C>T (p.Asp406=)22856CHSY1Benign/Likely benignrs113219895RCV000338568|RCV000642106; NMedGen:CN169374|MONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101718784101718784GA15:g.101718784G>AClinGen:CA7762576CN169374 not specified;
NM_014918.5(CHSY1):c.1111G>A (p.Glu371Lys)22856CHSY1Uncertain significancers1596419433RCV000793536; NMONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101718891101718891CT15:g.101718891C>T-
NM_014918.5(CHSY1):c.1052A>G (p.Lys351Arg)22856CHSY1Benignrs74752435RCV000534221|RCV000991802; NMONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:363417|MedGen:CN51720215101718950101718950TC15:g.101718950T>CClinGen:CA7762605C1854466 605282 Temtamy preaxial brachydactyly syndrome;
NM_014918.5(CHSY1):c.1006C>T (p.Arg336Cys)22856CHSY1Uncertain significancers1320280755RCV000622810|RCV000702135; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101718996101718996GA15:g.101718996G>AClinGen:CA393963232
NM_014918.5(CHSY1):c.787G>T (p.Ala263Ser)22856CHSY1Uncertain significance-1RCV001234113; NMONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101775316101775316CA15:g.101775316C>A-
NM_014918.5(CHSY1):c.730C>T (p.Arg244Trp)22856CHSY1Uncertain significancers74040399RCV000800256; NMONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101775373101775373GA15:g.101775373G>A-
NM_014918.5(CHSY1):c.666G>A (p.Gly222=)22856CHSY1Benign/Likely benignrs74545602RCV000347641|RCV000888184; NMedGen:CN169374|MONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101775437101775437CT15:g.101775437C>TClinGen:CA7762683CN169374 not specified;
NM_014918.5(CHSY1):c.535G>T (p.Asp179Tyr)22856CHSY1Uncertain significancers138311444RCV000800921; NMONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101775568101775568CA15:g.101775568C>A-
NM_014918.5(CHSY1):c.534A>G (p.Gly178=)22856CHSY1Benignrs3743192RCV000960958; NMONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101775569101775569TC15:g.101775569T>C-
NM_014918.5(CHSY1):c.489G>A (p.Lys163=)22856CHSY1Conflicting interpretations of pathogenicityrs146047900RCV000733947|RCV001084917; NMedGen:CN517202|MONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101775614101775614CT15:g.101775614C>T-
NM_014918.5(CHSY1):c.479A>T (p.Tyr160Phe)22856CHSY1Uncertain significance-1RCV001241442; NMONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101775624101775624TA15:g.101775624T>A-
NM_014918.5(CHSY1):c.423C>T (p.Asp141=)22856CHSY1Benignrs115447262RCV000966243; NMONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101775680101775680GA15:g.101775680G>A-
NM_014918.5(CHSY1):c.333G>A (p.Lys111=)22856CHSY1Benignrs117481449RCV000642105|RCV001080855; NMedGen:CN517202|MONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101775770101775770CT15:g.101775770C>TClinGen:CA7762744
NM_014918.5(CHSY1):c.321-3C>G22856CHSY1Pathogenicrs1567106459RCV000023691; NMONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101775785101775785GC15:g.101775785G>COMIM:608183.0004C1854466 605282 Temtamy preaxial brachydactyly syndrome;
NM_014918.5(CHSY1):c.209T>G (p.Leu70Arg)22856CHSY1Uncertain significance-1RCV001221669; NMONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101791453101791453AC15:g.101791453A>C-
NM_014918.5(CHSY1):c.205C>T (p.Gln69Ter)22856CHSY1Pathogenicrs387906984RCV000023690; NMONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101791457101791457GA15:g.101791457G>AClinGen:CA129409,OMIM:608183.0003C1854466 605282 Temtamy preaxial brachydactyly syndrome;
NM_014918.5(CHSY1):c.179_190dup (p.Gly60_Gly63dup)22856CHSY1Uncertain significancers1555437965RCV000662045; NMONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101791471101791472TTCGCCGCGCGCCC15:g.101791471_101791472insCGCCGCGCGCCC-C1854466 605282 Temtamy preaxial brachydactyly syndrome;
NM_014918.5(CHSY1):c.114C>T (p.Gly38=)22856CHSY1Benignrs773533401RCV000966340; NMONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101791548101791548GA15:g.101791548G>A-
NM_014918.5(CHSY1):c.96del (p.Glu33fs)22856CHSY1Pathogenicrs1596459125RCV000023693; NMONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101791566101791566CGC15:g.101791566_101791566delOMIM:608183.0006C1854466 605282 Temtamy preaxial brachydactyly syndrome;
NM_014918.5(CHSY1):c.39G>A (p.Leu13=)22856CHSY1Conflicting interpretations of pathogenicityrs764100516RCV000173442|RCV001080621; NMedGen:CN517202|MONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101791623101791623CT15:g.101791623C>TClinGen:CA238898CN169374 not specified;
NM_014918.5(CHSY1):c.21C>T (p.Arg7=)22856CHSY1Conflicting interpretations of pathogenicityrs751409111RCV000729771|RCV001082707; NMedGen:CN517202|MONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101791641101791641GA15:g.101791641G>A-
NM_014918.5(CHSY1):c.14del (p.Gly5fs)22856CHSY1Pathogenicrs1567112402RCV000023689; NMONDO:MONDO:0011533,MedGen:C1854466,OMIM:605282, Orphanet:36341715101791648101791648GCG15:g.101791648_101791648delOMIM:608183.0002
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