MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Mental Retardation, X-Linked (D038901)
..Starting node
..expand
TONNE-KALSCHEUER SYNDROME (OMIM:300978)

       Child Nodes:



 Sister Nodes: 
..expandAbidi X-linked mental retardation syndrome (C535556)
..expandAdrenoleukodystrophy (D000326) Child4
..expandAldred syndrome (C537046)
..expandAllan-Herndon-Dudley syndrome (C537047)
..expandArena syndrome (C537428)
..expandArmfield X-Linked Mental Retardation Syndrome (C564551)
..expandAtkin syndrome (C538195)
..expandATR-X syndrome (C538258)
..expandBorjeson-Forssman-Lehmann syndrome (C536575)
..expandBrooks-Wisniewski-Brown Syndrome (C563154)
..expandChromosome Xp11.3 Deletion Syndrome (C564481)
..expandCK SYNDROME (OMIM:300831)
..expandClark-Baraitser syndrome (C536208)
..expandClassical Lissencephalies and Subcortical Band Heterotopias (D054221) Child5
..expandCoffin-Lowry Syndrome (D038921)
..expandCowchock syndrome (C536450)
..expandCreatine deficiency, X-linked (C535598)
..expandEncephalopathy, Neonatal Severe, Due To Mecp2 Mutations (C566878)
..expandFaciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder (C564427)
..expandFragile X Syndrome (D005600) Child3
..expandGlycogen Storage Disease Type IIb (D052120)
..expandLesch-Nyhan Syndrome (D007926) Child1
..expandLubs X-linked mental retardation syndrome (C537723)
..expandLujan Fryns syndrome (C537724)
..expandMEHMO syndrome (C537451)
..expandMenkes Kinky Hair Syndrome (D007706) Child1
..expandMental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia (C567466)
..expandMental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism (C564724)
..expandMental retardation X-linked syndromic 7 (C537449)
..expandMental retardation X-linked, South African type (C537450)
..expandMental Retardation, X-Linked 1 (C567906)
..expandMENTAL RETARDATION, X-LINKED 100 (OMIM:300923)
..expandMENTAL RETARDATION, X-LINKED 101 (OMIM:300928)
..expandMENTAL RETARDATION, X-LINKED 102 (OMIM:300958)
..expandMENTAL RETARDATION, X-LINKED 103 (OMIM:300982)
..expandMENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
..expandMENTAL RETARDATION, X-LINKED 105 (OMIM:300984)
..expandMENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
..expandMental retardation, X-linked 14 (C537454)
..expandMental Retardation, X-Linked 16 (C563139)
..expandMental Retardation, X-Linked 17 (C563140)
..expandMental Retardation, X-Linked 19 (C563141)
..expandMENTAL RETARDATION, X-LINKED 19 (OMIM:300844)
..expandMental Retardation, X-Linked 2 (C563135)
..expandMental Retardation, X-Linked 20 (C563142)
..expandMENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
..expandMental Retardation, X-Linked 23 (C563144)
..expandMental Retardation, X-Linked 3 (C563136)
..expandMental Retardation, X-Linked 30 (C563146)
..expandMental Retardation, X-Linked 31 (C563147)
..expandMental Retardation, X-Linked 34 (C563148)
..expandMENTAL RETARDATION, X-LINKED 41 (OMIM:300849)
..expandMental Retardation, X-Linked 42 (C564524)
..expandMental Retardation, X-Linked 45 (C564503)
..expandMental Retardation, X-Linked 46 (C564513)
..expandMental Retardation, X-Linked 47 (C563151)
..expandMental Retardation, X-Linked 50 (C564713)
..expandMental Retardation, X-Linked 52 (C564502)
..expandMental Retardation, X-Linked 53 (C564533)
..expandMental Retardation, X-Linked 58 (C564566)
..expandMental Retardation, X-Linked 59 (C564470)
..expandMental Retardation, X-Linked 63 (C564522)
..expandMental Retardation, X-Linked 72 (C564547)
..expandMental Retardation, X-Linked 73 (C564528)
..expandMental Retardation, X-Linked 77 (C564511)
..expandMental Retardation, X-Linked 78 (C564489)
..expandMental Retardation, X-Linked 79 (C566876)
..expandMental Retardation, X-Linked 81 (C564515)
..expandMental Retardation, X-Linked 82 (C564496)
..expandMental Retardation, X-Linked 84 (C564501)
..expandMental Retardation, X-Linked 89 (C564036)
..expandMental Retardation, X-Linked 9 (C563137)
..expandMENTAL RETARDATION, X-LINKED 90 (OMIM:300850)
..expandMental Retardation, X-Linked 91 (C564482)
..expandMental Retardation, X-Linked 92 (C564483)
..expandMental Retardation, X-Linked 93 (C567066)
..expandMental Retardation, X-Linked 94 (C567479)
..expandMental Retardation, X-Linked 95 (C567470)
..expandMENTAL RETARDATION, X-LINKED 96 (OMIM:300802)
..expandMENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
..expandMENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
..expandMENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
..expandMental Retardation, X-Linked Nonsyndromic (C564490)
..expandMental Retardation, X-Linked, Syndromic 10 (C564560)  LSDB  L: 00526;
..expandMental Retardation, X-Linked, Syndromic 13 (C566875)
..expandMental Retardation, X-Linked, Syndromic 14 (C567063)
..expandMENTAL RETARDATION, X-LINKED, SYNDROMIC 32 (OMIM:300886)
..expandMENTAL RETARDATION, X-LINKED, SYNDROMIC 33 (OMIM:300966)
..expandMENTAL RETARDATION, X-LINKED, SYNDROMIC 34 (OMIM:300967)
..expandMental retardation, X-linked, syndromic 5 (C535773)
..expandMental Retardation, X-Linked, Syndromic 9 (C567474)
..expandMENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
..expandMental Retardation, X-Linked, Syndromic, Jarid1c-Related (C564494)
..expandMENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
..expandMENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE (OMIM:300799)
..expandMental Retardation, X-Linked, Syndromic, Ube2a-Related (C564069)
..expandMental Retardation, X-Linked, Syp-Related (C567584)
..expandMental Retardation, X-Linked, With Brachydactyly And Macroglossia (C567069)
..expandMental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance (C537456)
..expandMental Retardation, X-Linked, with Epilepsy (C564516)
..expandMental Retardation, X-Linked, with Isolated Growth Hormone Deficiency (C564712)
..expandMental Retardation, X-Linked, With Or Without Seizures, Arx-Related (C563150)
..expandMental Retardation, X-Linked, with Short Stature (C564527)
..expandMental Retardation, X-Linked, With Spasticity (C566877)
..expandMental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
..expandMicrophthalmia, Syndromic 4 (C564457)
..expandMiles-Carpenter x-linked mental retardation syndrome (C537472)
..expandMucopolysaccharidosis II (D016532)
..expandOpitz-Kaveggia syndrome (C537923)
..expandOrofaciodigital syndrome, Shashi type (C537135)
..expandPartington X-linked mental retardation syndrome (C536300)
..expandPlagiocephaly and X-linked mental retardation (C537512)
..expandPpm-X Syndrome (C580387)
..expandPrieto X-linked mental retardation syndrome (C535274)
..expandPyruvate Dehydrogenase Complex Deficiency Disease (D015325) Child4  LSDB C:3 L: 00442;
..expandRAYNAUD-CLAES SYNDROME (OMIM:300114)
..expandRenpenning syndrome 1 (C537761)
..expandRett Syndrome (D015518) Child5
..expandRoifman syndrome (C535866)
..expandSchimke X-linked mental retardation syndrome (C536630)
..expandSiderius X-linked mental retardation syndrome (C537333)
..expandSnyder Robinson syndrome (C536678)
..expandStocco dos Santos syndrome (C537495)
..expandTONNE-KALSCHEUER SYNDROME (OMIM:300978)
..expandTranebjaerg Svejgaard syndrome (C536978)
..expandWilson-Turner X-linked mental retardation syndrome (C536708)
..expandWittwer syndrome (C536737)
..expandX-linked mental retardation Gustavson type (C536759)
..expandX-linked mental retardation type Wittwer (C536760)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:12206
Name:TONNE-KALSCHEUER SYNDROME
Definition:
Alternative IDs:
ParentIDs:MESH:D038901
TreeNumbers:C10.597.606.360.455/300978 |C16.320.322.500/300978 |C16.320.400.525/300978
Synonyms:INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT HAND AND FOOT ANOMALIES, GENITAL ANOMALIES, OR CONGENITAL DIAPHRAGMATIC HERNIA |MENTAL RETARDATION, X-LINKED 61 |MRX61 |TOKAS
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: 300978
MeSH: 300978
OMIM: 300978;
MSeqDR LSDB:  
Genes:
Phenotypes
1 HP:0001419X-linked recessive inheritance
2 HP:0000708Behavioral abnormality
NAMDC:  Psychiatric
3 HP:0000337Broad forehead
4 HP:0000028Cryptorchidism
5 HP:0011968Feeding difficulties
6 HP:0002213Fine hair
7 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
8 HP:0001263Global developmental delay
NAMDC:  Mental retardation
9 HP:0000316Hypertelorism
10 HP:0001249Intellectual disability
11 HP:0000252Microcephaly
12 HP:0000347Micrognathia
13 HP:0002465Poor speech
14 HP:0000448Prominent nose
15 HP:0000431Wide nasal bridge
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_016120.4(RLIM):c.1831C>T (p.Arg611Cys)51132RLIMPathogenicrs1569309449RCV000709996; NMONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978X7381131973811319GAX:g.73811319G>AOMIM:300379.0007
NM_016120.4(RLIM):c.1795C>T (p.Arg599Cys)51132RLIMPathogenicrs1569309459RCV000239547; NMONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978X7381135573811355GAX:g.73811355G>AOMIM:300379.0004
NM_016120.4(RLIM):c.1792G>A (p.Asp598Asn)51132RLIMPathogenicrs1569309460RCV000709994; NMONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978X7381135873811358CTX:g.73811358C>TOMIM:300379.0006
NM_016120.4(RLIM):c.1760C>G (p.Pro587Arg)51132RLIMPathogenicrs1569309474RCV000239584; NMONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978X7381139073811390GCX:g.73811390G>COMIM:300379.0002
NM_016120.4(RLIM):c.1729T>C (p.Tyr577His)51132RLIMLikely pathogenicrs1569309484RCV000735274; NMONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978X7381142173811421AGX:g.73811421A>G-
NM_016120.4(RLIM):c.1364C>A (p.Ser455Tyr)51132RLIMUncertain significancers1478259309RCV000786999; NMONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978X7381178673811786GTX:g.73811786G>T-
NM_016120.4(RLIM):c.1159C>T (p.Arg387Cys)51132RLIMPathogenicrs1569309776RCV000239497; NMONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978X7381199173811991GAX:g.73811991G>AOMIM:300379.0003
NM_016120.4(RLIM):c.1093C>T (p.Arg365Cys)51132RLIMPathogenicrs1569309816RCV000709995; NMONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978X7381205773812057GAX:g.73812057G>AOMIM:300379.0005
NM_016120.4(RLIM):c.1067A>G (p.Tyr356Cys)51132RLIMPathogenic/Likely pathogenicrs786205133RCV000170337|RCV000207499; NMONDO:MONDO:0019181,MedGen:C3501611,OMIM:PS309530, Orphanet:777|MONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978X7381208373812083TCX:g.73812083T>CClinGen:CA199536,OMIM:300379.0001C4283894 300978 Mental retardation, X-linked 61;
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