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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Apraxias (D001072)
Parent Node: Contracture (D003286)
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Muscular Atrophy (D009133)
Parent Node: Ophthalmoplegia (D009886)
..Starting node ..Wieacker syndrome (C536703)
Child Nodes:
Sister Nodes:
..Adenine Nucleotide Translocator Deficiency (C566309)
..ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
..CANOMAD syndrome (C537980)
..Congenital Fibrosis of the Extraocular Muscles (C580012)
..External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation (C566509)
..Fibrosis Of Extraocular Muscles, Congenital, 2 (C566587)
..Hamano Tsukamoto syndrome (C535625)
..Inclusion Body Myopathy 3, Autosomal Dominant (C565311)
..Inclusion body myopathy, autosomal dominant (C538330)
..Minicore Myopathy with External Ophthalmoplegia (C564969)
..Motor Neuron Disease with Dementia and Ophthalmoplegia (C563954)
..Ocular Myopathy with Curare Sensitivity (C564937)
..Oculomelic amyoplasia (C537737)
..Oculootoradial syndrome (C535544)
..Ophthalmoplegia Totalis with Ptosis and Miosis (C564927)
..Ophthalmoplegia, Chronic Progressive External (D017246) 7 C:5
..Ophthalmoplegia, External, and Myopia (C564087)
..Ophthalmoplegia, Familial Static (C563500)
..Ophthalmoplegia, Familial Total, with Iris Transillumination (C563499)
..Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency (C563498)
..Ophthalmoplegic Migraine (D060486)
..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..Progressive External Ophthalmoplegia With Hypogonadism (C563576)
..PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156) L: 00050;
..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575) L: 00117;
..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive (C564926) L: 00118;
..PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479) L: 00534;
..PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 (OMIM:617069) L: 00510;
..PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070) L: 00535;
..Schimke X-linked mental retardation syndrome (C536630)
..Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (C537583) L: 00042;
..Supranuclear Palsy, Progressive (D013494) 5
..Treft Sanborn Carey syndrome (C536544)
..Wieacker 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:

Reference:

MedGen: C536703
MeSH: C536703
OMIM: 314580;
MSeqDR :
Genes: ZC4H2;

Phenotypes

1	HP:0001417	X-linked inheritance
2	HP:0001419	X-linked recessive inheritance
3	HP:0003577	Congenital onset
4	HP:0000463	Anteverted nares
5	HP:0002104	Apnea
6	HP:0001284	Areflexia
7	HP:0002804	Arthrogryposis multiplex congenita	Congenital onset
8	HP:0000187	Broad alveolar ridges
9	HP:0012385	Camptodactyly
10	HP:0002059	Cerebral atrophy
11	HP:0005745	Congenital foot contractures
12	HP:0001558	Decreased fetal movement
13	HP:0012448	Delayed myelination
14	HP:0000750	Delayed speech and language development NAMDC: Delayed language
15	HP:0003693	Distal amyotrophy
16	HP:0002307	Drooling
17	HP:0001332	Dystonia NAMDC: Dystonia
18	HP:0000577	Exotropia
19	HP:0010628	Facial palsy
20	HP:0011968	Feeding difficulties
21	HP:0001290	Generalized hypotonia
22	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
23	HP:0001263	Global developmental delay NAMDC: Mental retardation
24	HP:0009890	High anterior hairline
25	HP:0000218	High palate
26	HP:0002827	Hip dislocation
27	HP:0003307	Hyperlordosis
28	HP:0001256	Intellectual disability, mild
29	HP:0002808	Kyphosis
30	HP:0000343	Long philtrum
31	HP:0000369	Low-set ears
32	HP:0000252	Microcephaly
33	HP:0000347	Micrognathia
34	HP:0000774	Narrow chest
35	HP:0002643	Neonatal respiratory distress
36	HP:0000657	Oculomotor apraxia	HP:0040283
37	HP:0010765	Palmar hyperkeratosis
38	HP:0009623	Proximal placement of thumb
39	HP:0000508	Ptosis NAMDC: Ptosis
40	HP:0000278	Retrognathia
41	HP:0002650	Scoliosis
42	HP:0001250	Seizures NAMDC: Seizures
43	HP:0000470	Short neck
44	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
45	HP:0000319	Smooth philtrum
46	HP:0001257	Spasticity NAMDC: Spasticity
47	HP:0001762	Talipes equinovarus
48	HP:0010806	U-Shaped upper lip vermilion
49	HP:0000582	Upslanted palpebral fissure

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_018684.4(ZC4H2):c.650A>G (p.Lys217Arg)	55906	ZC4H2	Pathogenic	rs1929002470	RCV001034718;	N	Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283	X	64137688	64137688	X:g.64137688T>C	OMIM:300897.0011
NM_018684.4(ZC4H2):c.637C>T (p.Arg213Trp)	55906	ZC4H2	Pathogenic	rs879255236	RCV000043679\|RCV001384432\|RCV002354226;	N	Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	X	64137701	64137701	X:g.64137701G>A	ClinGen:CA10575581,UniProtKB:Q9NQZ6#VAR_069624,OMIM:300897.0004	C0796200 314580 Wieacker Wolff syndrome;
NM_018684.4(ZC4H2):c.631C>T (p.Arg211Trp)	55906	ZC4H2	Likely pathogenic	rs1555933616	RCV000521213\|RCV001375995;	N	MedGen:CN517202\|Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283	X	64137707	64137707	X:g.64137707G>A	ClinGen:CA413411099	CN517202 not provided;
NM_018684.4(ZC4H2):c.601C>T (p.Pro201Ser)	55906	ZC4H2	Likely pathogenic	rs398122939	RCV000043678\|RCV001374903;	N	Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283\|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926	X	64137737	64137737	X:g.64137737G>A	ClinGen:CA143908,UniProtKB:Q9NQZ6#VAR_069623,OMIM:300897.0003	C0796200 314580 Wieacker Wolff syndrome;
NM_018684.4(ZC4H2):c.598G>A (p.Ala200Thr)	55906	ZC4H2	Pathogenic	rs1929006117	RCV001197017;	N	Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283	X	64137740	64137740	X:g.64137740C>T	-
NM_018684.4(ZC4H2):c.593G>A (p.Arg198Gln)	55906	ZC4H2	Pathogenic	rs879255235	RCV000043677\|RCV000498696\|RCV001770066;	N	Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283\|MedGen:CN517202\|MONDO:MONDO:0026762,MedGen:C5393303,OMIM:301041	X	64137745	64137745	NC_000023.10:g.64137745C>T	OMIM:300897.0002,ClinGen:CA10575580,UniProtKB:Q9NQZ6#VAR_069622	CN517202 not provided;
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp)	55906	ZC4H2	Pathogenic/Likely pathogenic	rs137962226	RCV000497334\|RCV001007949\|RCV002496910;	N	MedGen:CN517202\|Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283\|Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283; MONDO:MONDO:0026762,MedGen:C5393303,OMIM:301041	X	64137746	64137746	X:g.64137746G>A	ClinGen:CA413411210	CN517202 not provided;
NM_018684.4(ZC4H2):c.576del (p.His193fs)	55906	ZC4H2	Pathogenic	rs1929007323	RCV001195861;	N	Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283	X	64137762	64137762	X:g.64137762_64137762del	-
NM_018684.4(ZC4H2):c.561+7G>A	55906	ZC4H2	Uncertain significance	rs1929057022	RCV001262178;	N	Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283	X	64138915	64138915	X:g.64138915C>T	-
NM_018684.4(ZC4H2):c.561G>T (p.Lys187Asn)	55906	ZC4H2	Uncertain significance	rs1929057155	RCV001195883;	N	Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283	X	64138922	64138922	X:g.64138922C>A	-
NM_018684.4(ZC4H2):c.535_538dup (p.Arg180fs)	55906	ZC4H2	Likely pathogenic	rs1929057804	RCV001267690;	N	Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283	X	64138944	64138945	X:g.64138944_64138945insTGAA	-
NM_018684.4(ZC4H2):c.527C>T (p.Thr176Met)	55906	ZC4H2	Uncertain significance	-1	RCV003089142\|RCV002291308;	N	MedGen:CN517202\|Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283	X	64138956	64138956	64138956	-
NM_018684.4(ZC4H2):c.432A>G (p.Thr144=)	55906	ZC4H2	Benign	rs6524946	RCV001692265\|RCV002312341\|RCV002499303;	N	MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283; MONDO:MONDO:0026762,MedGen:C5393303,OMIM:301041	X	64139051	64139051	NC_000023.10:g.64139051T>C	-
NM_018684.4(ZC4H2):c.427C>T (p.Gln143Ter)	55906	ZC4H2	Pathogenic/Likely pathogenic	rs1260869746	RCV000660640\|RCV001008707;	N	Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283\|MedGen:CN517202	X	64139056	64139056	X:g.64139056G>A	-	C0796200 314580 Wieacker Wolff syndrome;
NM_018684.4(ZC4H2):c.412C>T (p.Gln138Ter)	55906	ZC4H2	Pathogenic	rs1602379828	RCV000850369\|RCV001008687;	N	Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283\|MedGen:CN517202	X	64139071	64139071	X:g.64139071G>A	-
NM_018684.4(ZC4H2):c.406G>C (p.Glu136Gln)	55906	ZC4H2	Uncertain significance	-1	RCV002272837;	N	Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283	X	64139077	64139077	64139077	-
NM_018684.4(ZC4H2):c.375AGA[1] (p.Glu128del)	55906	ZC4H2	Likely pathogenic	rs750367160	RCV000625911;	N	Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283	X	64139979	64139981	X:g.64139979_64139981del	ClinGen:CA10433444	C0796200 314580 Wieacker Wolff syndrome;
NM_018684.4(ZC4H2):c.243_246del (p.Lys81fs)	55906	ZC4H2	Pathogenic	rs1929136990	RCV001254723\|RCV001266314\|RCV002509641;	N	Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	X	64140113	64140116	X:g.64140113_64140116del	-
NM_018684.4(ZC4H2):c.225+5G>A	55906	ZC4H2	Pathogenic/Likely pathogenic	rs1057520298	RCV000444927\|RCV000599073\|RCV001796034;	N	Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283\|MedGen:CN517202\|	X	64141692	64141692	X:g.64141692C>T	ClinGen:CA16609221,OMIM:300897.0006	CN517202 not provided;
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter)	55906	ZC4H2	Pathogenic/Likely pathogenic	rs1131691616	RCV000494211\|RCV000763627\|RCV001265964\|RCV002527090;	N	MedGen:CN517202\|Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0026762,MedGen:C5393303,OMIM:301041	X	64141723	64141723	X:g.64141723G>A	ClinGen:CA413412148	CN517202 not provided;
NM_018684.4(ZC4H2):c.197T>A (p.Leu66His)	55906	ZC4H2	Pathogenic	rs1057520297	RCV000425925;	N	Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283	X	64141725	64141725	NC_000023.10:g.64141725A>T	ClinGen:CA16609220,OMIM:300897.0005	C0796200 314580 Wieacker Wolff syndrome;
NM_018684.4(ZC4H2):c.187G>C (p.Val63Leu)	55906	ZC4H2	Pathogenic	rs398122938	RCV000043676;	N	Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283	X	64141735	64141735	X:g.64141735C>G	ClinGen:CA143907,UniProtKB:Q9NQZ6#VAR_069621,OMIM:300897.0001	C0796200 314580 Wieacker Wolff syndrome;
NM_018684.4(ZC4H2):c.174_178del (p.Glu58fs)	55906	ZC4H2	Likely pathogenic	-1	RCV001809225;	N	Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283	X	64141744	64141748	64141743	-
NM_018684.4(ZC4H2):c.177G>T (p.Lys59Asn)	55906	ZC4H2	Uncertain significance	-1	RCV002471314;	N	Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283	X	64141745	64141745	NC_000023.10:g.64141745C>A	-
NM_018684.4(ZC4H2):c.170A>C (p.Gln57Pro)	55906	ZC4H2	Uncertain significance	rs1929211117	RCV001197131;	N	Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283	X	64141752	64141752	X:g.64141752T>G	-
NM_018684.4(ZC4H2):c.54-1G>A	55906	ZC4H2	not provided	rs1569201245	RCV000509404;	N	Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283	X	64141869	64141869	X:g.64141869C>T	-	C0796200 314580 Wieacker Wolff syndrome;
Single allele	55906	ZC4H2	Pathogenic	-1	RCV000735229;	N	Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283	X	64171841	64267316		-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NM_018684.4(ZC4H2):c.53+10513C>T	55906	ZC4H2	Likely pathogenic	rs1931569117	RCV001255627;	N	Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283	X	64185692	64185692	X:g.64185692G>A	-
NM_018684.4(ZC4H2):c.53G>A (p.Arg18Lys)	55906	ZC4H2	Pathogenic	rs1057520299	RCV000426615;	N	Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283	X	64196205	64196205	NC_000023.10:g.64196205C>T	ClinGen:CA16609222,OMIM:300897.0007	C0796200 314580 Wieacker Wolff syndrome;
NM_018684.4(ZC4H2):c.22_23del (p.Met8fs)	55906	ZC4H2	Pathogenic	rs1555945816	RCV000578447\|RCV002279364;	N	Gene:4183,MONDO:MONDO:0010758,MedGen:C0796200,OMIM:314580, Orphanet:3454, Orphanet:85283\|MedGen:CN517202	X	64196235	64196236	X:g.64196235_64196236del	ClinGen:CA658684312	C0796200 314580 Wieacker Wolff syndrome;

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