MSeqDR Mitochondrial Disease Portal


 
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Apraxias (D001072)
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Contracture (D003286)
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Genetic Diseases, X-Linked (D040181)
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Muscular Atrophy (D009133)
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Ophthalmoplegia (D009886)
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Wieacker syndrome (C536703)

       Child Nodes:



 Sister Nodes: 
..expandAdenine Nucleotide Translocator Deficiency (C566309)
..expandARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
..expandCANOMAD syndrome (C537980)
..expandCongenital Fibrosis of the Extraocular Muscles (C580012)
..expandExternal Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation (C566509)
..expandFibrosis Of Extraocular Muscles, Congenital, 2 (C566587)
..expandHamano Tsukamoto syndrome (C535625)
..expandInclusion Body Myopathy 3, Autosomal Dominant (C565311)
..expandInclusion body myopathy, autosomal dominant (C538330)
..expandMinicore Myopathy with External Ophthalmoplegia (C564969)
..expandMotor Neuron Disease with Dementia and Ophthalmoplegia (C563954)
..expandOcular Myopathy with Curare Sensitivity (C564937)
..expandOculomelic amyoplasia (C537737)
..expandOculootoradial syndrome (C535544)
..expandOphthalmoplegia Totalis with Ptosis and Miosis (C564927)
..expandOphthalmoplegia, Chronic Progressive External (D017246) Child7  LSDB C:5
..expandOphthalmoplegia, External, and Myopia (C564087)
..expandOphthalmoplegia, Familial Static (C563500)
..expandOphthalmoplegia, Familial Total, with Iris Transillumination (C563499)
..expandOphthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency (C563498)
..expandOphthalmoplegic Migraine (D060486)
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..expandOptic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..expandProgressive External Ophthalmoplegia With Hypogonadism (C563576)
..expandPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)  LSDB  L: 00050;
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)  LSDB  L: 00117;
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive (C564926)  LSDB  L: 00118;
..expandPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)  LSDB  L: 00534;
..expandPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 (OMIM:617069)  LSDB  L: 00510;
..expandPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070)  LSDB  L: 00535;
..expandSchimke X-linked mental retardation syndrome (C536630)
..expandSensory ataxic neuropathy, dysarthria, and ophthalmoparesis (C537583)  LSDB  L: 00042;
..expandSupranuclear Palsy, Progressive (D013494) Child5
..expandTreft Sanborn Carey syndrome (C536544)
..expandWieacker syndrome (C536703)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:12847
Name:Wieacker syndrome
Definition:
Alternative IDs:OMIM:314580
ParentIDs:MESH:D001072|MESH:D003286|MESH:D009133|MESH:D009886|MESH:D040181
TreeNumbers:C05.550.323/C536703 |C05.651.197/C536703 |C10.292.562.750/C536703 |C10.597.606.881.350/C536703 |C10.597.613.612/C536703 |C10.597.622.447/C536703 |C11.590.472/C536703 |C16.320.322/C536703 |C23.300.070.500/C536703 |C23.888.592.604.882.350/C536703 |C23.888.592.608.61
Synonyms:Apraxia, oculomotor, with congenital contractures and muscle atrophy |Contractures of feet, muscle atrophy, and oculomotor apraxia |MCS |MENTAL RETARDATION, X-LINKED, SYNDROMIC 4 |MENTAL RETARDATION, X-LINKED, WITH CONGENITAL CONTRACTURES AND LOW FINGERTIP A
Slim Mappings:Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms
Reference: MedGen: C536703
MeSH: C536703
OMIM: 314580;
MSeqDR LSDB:  
Genes: ZC4H2;
Phenotypes
1 HP:0001417X-linked inheritance
2 HP:0001419X-linked recessive inheritance
3 HP:0003577Congenital onset
4 HP:0000463Anteverted nares
5 HP:0002104Apnea
6 HP:0001284Areflexia
7 HP:0002804Arthrogryposis multiplex congenita Congenital onset
8 HP:0000187Broad alveolar ridges
9 HP:0012385Camptodactyly
10 HP:0002059Cerebral atrophy
11 HP:0005745Congenital foot contractures
12 HP:0001558Decreased fetal movement
13 HP:0012448Delayed myelination
14 HP:0000750Delayed speech and language development
NAMDC:  Delayed language
15 HP:0003693Distal amyotrophy
16 HP:0002307Drooling
17 HP:0001332Dystonia
NAMDC:  Dystonia
18 HP:0000577Exotropia
19 HP:0010628Facial palsy
20 HP:0011968Feeding difficulties
21 HP:0001290Generalized hypotonia
22 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
23 HP:0001263Global developmental delay
NAMDC:  Mental retardation
24 HP:0009890High anterior hairline
25 HP:0000218High palate
26 HP:0002827Hip dislocation
27 HP:0003307Hyperlordosis
28 HP:0001256Intellectual disability, mild
29 HP:0002808Kyphosis
30 HP:0000343Long philtrum
31 HP:0000369Low-set ears
32 HP:0000252Microcephaly
33 HP:0000347Micrognathia
34 HP:0000774Narrow chest
35 HP:0002643Neonatal respiratory distress
36 HP:0000657Oculomotor apraxiaHP:0040283
37 HP:0010765Palmar hyperkeratosis
38 HP:0009623Proximal placement of thumb
39 HP:0000508Ptosis
NAMDC:  Ptosis
40 HP:0000278Retrognathia
41 HP:0002650Scoliosis
42 HP:0001250Seizures
NAMDC:  Seizures
43 HP:0000470Short neck
44 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
45 HP:0000319Smooth philtrum
46 HP:0001257Spasticity
NAMDC:  Spasticity
47 HP:0001762Talipes equinovarus
48 HP:0010806U-Shaped upper lip vermilion
49 HP:0000582Upslanted palpebral fissure
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_018684.4(ZC4H2):c.650A>G (p.Lys217Arg)55906ZC4H2Pathogenicrs1929002470RCV001034718; NGene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283X6413768864137688TCX:g.64137688T>COMIM:300897.0011
NM_018684.4(ZC4H2):c.637C>T (p.Arg213Trp)55906ZC4H2Pathogenicrs879255236RCV000043679|RCV001384432; NGene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283|MedGen:CN517202X6413770164137701GAX:g.64137701G>AClinGen:CA10575581,UniProtKB:Q9NQZ6#VAR_069624,OMIM:300897.0004C0796200 314580 Wieacker Wolff syndrome;
NM_018684.4(ZC4H2):c.631C>T (p.Arg211Trp)55906ZC4H2Likely pathogenicrs1555933616RCV000521213|RCV001375995; NMedGen:CN517202|Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283X6413770764137707GAX:g.64137707G>AClinGen:CA413411099CN517202 not provided;
NM_018684.4(ZC4H2):c.601C>T (p.Pro201Ser)55906ZC4H2Likely pathogenicrs398122939RCV000043678|RCV001374903; NGene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926X6413773764137737GAX:g.64137737G>AClinGen:CA143908,UniProtKB:Q9NQZ6#VAR_069623,OMIM:300897.0003C0796200 314580 Wieacker Wolff syndrome;
NM_018684.4(ZC4H2):c.598G>A (p.Ala200Thr)55906ZC4H2Pathogenicrs1929006117RCV001197017; NGene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283X6413774064137740CTX:g.64137740C>T-
NM_018684.4(ZC4H2):c.593G>A (p.Arg198Gln)55906ZC4H2Pathogenicrs879255235RCV000043677|RCV000498696|RCV001770066; NGene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283|MedGen:CN517202|MONDO:MONDO:0026762,MedGen:C5393303,OMIM:301041X6413774564137745CTNC_000023.10:g.64137745C>TClinGen:CA10575580,UniProtKB:Q9NQZ6#VAR_069622,OMIM:300897.0002CN517202 not provided;
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp)55906ZC4H2Pathogenic/Likely pathogenicrs137962226RCV000497334|RCV001007949; NMedGen:CN517202|Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283X6413774664137746GAX:g.64137746G>AClinGen:CA413411210CN517202 not provided;
NM_018684.4(ZC4H2):c.576del (p.His193fs)55906ZC4H2Pathogenicrs1929007323RCV001195861; NGene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283X6413776264137762GAGX:g.64137762_64137762del-
NM_018684.4(ZC4H2):c.561+7G>A55906ZC4H2Uncertain significancers1929057022RCV001262178; NGene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283X6413891564138915CTX:g.64138915C>T-
NM_018684.4(ZC4H2):c.561G>T (p.Lys187Asn)55906ZC4H2Uncertain significancers1929057155RCV001195883; NGene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283X6413892264138922CAX:g.64138922C>A-
NM_018684.4(ZC4H2):c.535_538dup (p.Arg180fs)55906ZC4H2Likely pathogenicrs1929057804RCV001267690; NGene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283X6413894464138945CCTGAAX:g.64138944_64138945insTGAA-
NM_018684.4(ZC4H2):c.427C>T (p.Gln143Ter)55906ZC4H2Pathogenic/Likely pathogenicrs1260869746RCV000660640|RCV001008707; NGene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283|MedGen:CN517202X6413905664139056GAX:g.64139056G>A-C0796200 314580 Wieacker Wolff syndrome;
NM_018684.4(ZC4H2):c.412C>T (p.Gln138Ter)55906ZC4H2Pathogenicrs1602379828RCV000850369|RCV001008687; NGene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283|MedGen:CN517202X6413907164139071GAX:g.64139071G>A-
NM_018684.4(ZC4H2):c.375AGA[1] (p.Glu128del)55906ZC4H2Likely pathogenicrs750367160RCV000625911; NGene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283X6413997964139981CTCTCX:g.64139979_64139981delClinGen:CA10433444C0796200 314580 Wieacker Wolff syndrome;
NM_018684.4(ZC4H2):c.243_246del (p.Lys81fs)55906ZC4H2Pathogenicrs1929136990RCV001254723|RCV001266314; NGene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283|MeSH:D030342,MedGen:C0950123X6414011364140116ATTGTAX:g.64140113_64140116del-
NM_018684.4(ZC4H2):c.225+5G>A55906ZC4H2Likely pathogenicrs1057520298RCV000444927|RCV000599073|RCV001796034; NGene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283|MedGen:CN517202|X6414169264141692CTX:g.64141692C>TClinGen:CA16609221,OMIM:300897.0006CN517202 not provided;
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter)55906ZC4H2Pathogenic/Likely pathogenicrs1131691616RCV000494211|RCV000763627|RCV001265964; NMedGen:CN517202|Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283|MeSH:D030342,MedGen:C0950123X6414172364141723GAX:g.64141723G>AClinGen:CA413412148CN517202 not provided;
NM_018684.4(ZC4H2):c.197T>A (p.Leu66His)55906ZC4H2Pathogenicrs1057520297RCV000425925; NGene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283X6414172564141725ATNC_000023.10:g.64141725A>TClinGen:CA16609220,OMIM:300897.0005C0796200 314580 Wieacker Wolff syndrome;
NM_018684.4(ZC4H2):c.187G>C (p.Val63Leu)55906ZC4H2Pathogenicrs398122938RCV000043676; NGene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283X6414173564141735CGX:g.64141735C>GClinGen:CA143907,UniProtKB:Q9NQZ6#VAR_069621,OMIM:300897.0001C0796200 314580 Wieacker Wolff syndrome;
NM_018684.4(ZC4H2):c.174_178del (p.Glu58fs)55906ZC4H2Likely pathogenic-1RCV001809225; NGene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283X6414174464141748ATCTTCA64141743-
NM_018684.4(ZC4H2):c.170A>C (p.Gln57Pro)55906ZC4H2Uncertain significancers1929211117RCV001197131; NGene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283X6414175264141752TGX:g.64141752T>G-
NM_018684.4(ZC4H2):c.54-1G>A55906ZC4H2not providedrs1569201245RCV000509404; NGene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283X6414186964141869CTX:g.64141869C>T-C0796200 314580 Wieacker Wolff syndrome;
Single allele55906ZC4H2Pathogenic-1RCV000735229; NGene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283X6417184164267316nana-C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NM_018684.4(ZC4H2):c.53+10513C>T55906ZC4H2Likely pathogenicrs1931569117RCV001255627; NGene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283X6418569264185692GAX:g.64185692G>A-
NM_018684.4(ZC4H2):c.53G>A (p.Arg18Lys)55906ZC4H2Pathogenicrs1057520299RCV000426615; NGene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283X6419620564196205CTNC_000023.10:g.64196205C>TClinGen:CA16609222,OMIM:300897.0007C0796200 314580 Wieacker Wolff syndrome;
NM_018684.4(ZC4H2):c.22_23del (p.Met8fs)55906ZC4H2Pathogenicrs1555945816RCV000578447; NGene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283X6419623564196236CATCX:g.64196235_64196236delClinGen:CA658684312C0796200 314580 Wieacker Wolff syndrome;
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