MCID: WCK001
MIFTS: 29

Wieacker-Wolff Syndrome malady

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Wieacker-Wolff Syndrome

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Sources:
12diseasecard, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Wieacker-Wolff Syndrome:

Name: Wieacker-Wolff Syndrome 51 24 53 12 67
Wieacker Syndrome 24 69 26
Contractures of Feet, Muscle Atrophy, and Oculomotor Apraxia 24 69
Apraxia, Oculomotor, with Congenital Contractures and Muscle Atrophy 24
Oculomotor Apraxia with Congenital Contractures and Muscle Atrophy 69
 
Intellectual Disability-Developmental Delay-Contractures Syndrome 53
Foot Contractures-Muscle Atrophy-Oculomotor Apraxia Syndrome 53
Wieacker-Wolf Syndrome 69
Wrwf 69

Characteristics:

Orphanet epidemiological data:

53
wieacker-wolff syndrome:
Inheritance: Not applicable,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

63
wieacker-wolff syndrome:
Inheritance: x-linked recessive inheritance
Onset and clinical course: congenital onset

Classifications:



External Ids:

OMIM51 314580
Orphanet53 ORPHA3454
MESH via Orphanet39 C536703
ICD10 via Orphanet30 G71.8
UMLS via Orphanet68 C0796200
MedGen36 C0796200

Summaries for Wieacker-Wolff Syndrome

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OMIM:51 Wieacker-Wolff syndrome is a severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral... (314580) more...

MalaCards based summary: Wieacker-Wolff Syndrome, also known as wieacker syndrome, is related to intellectual disability-developmental delay-contractures syndrome and menkes disease, and has symptoms including ophthalmoparesis, limitation of joint mobility and neurological speech impairment. An important gene associated with Wieacker-Wolff Syndrome is ZC4H2 (Zinc Finger C4H2-Type Containing). Affiliated tissues include skeletal muscle and eye.

UniProtKB/Swiss-Prot:69 Wieacker-Wolf syndrome: A severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero (fetal akinesia). Affected boys are born with severe contractures, known as arthrogryposis, and have delayed motor development, facial and bulbar weakness, characteristic dysmorphic facial features, and skeletal abnormalities, such as hip dislocation, scoliosis, and pes equinovarus. Those that survive infancy show mental retardation. Carrier females may have mild features of the disorder.

Related Diseases for Wieacker-Wolff Syndrome

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Diseases related to Wieacker-Wolff Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1intellectual disability-developmental delay-contractures syndrome11.3
2menkes disease9.5ALAS2, ZC4H2

Symptoms for Wieacker-Wolff Syndrome

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Symptoms by clinical synopsis from OMIM:

314580

Clinical features from OMIM:

314580

Human phenotypes related to Wieacker-Wolff Syndrome:

 63 53 (show all 51)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ophthalmoparesis63 hallmark (90%) HP:0000597
2 limitation of joint mobility63 53 hallmark (90%) Very frequent (99-80%) HP:0001376
3 neurological speech impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0002167
4 skeletal muscle atrophy63 hallmark (90%) HP:0003202
5 clinodactyly of the 5th finger63 53 hallmark (90%) Very frequent (99-80%) HP:0004209
6 abnormality of movement63 53 hallmark (90%) Very frequent (99-80%) HP:0100022
7 cognitive impairment63 hallmark (90%) HP:0100543
8 strabismus63 53 occasional (7.5%) Occasional (29-5%) HP:0000486
9 ptosis63 53 occasional (7.5%) Occasional (29-5%) HP:0000508
10 scoliosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002650
11 kyphosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002808
12 oculomotor apraxia63 53 rare (5%) Very frequent (99-80%) HP:0000657
13 broad alveolar ridges63 HP:0000187
14 high palate63 HP:0000218
15 retrognathia63 HP:0000278
16 smooth philtrum63 HP:0000319
17 long philtrum63 HP:0000343
18 micrognathia63 HP:0000347
19 low-set ears63 HP:0000369
20 short neck63 HP:0000470
21 upslanted palpebral fissure63 HP:0000582
22 delayed speech and language development63 HP:0000750
23 narrow chest63 HP:0000774
24 seizures63 HP:0001250
25 muscular hypotonia63 HP:0001252
26 intellectual disability, mild63 53 Very frequent (99-80%) HP:0001256
27 spasticity63 HP:0001257
28 global developmental delay63 53 Very frequent (99-80%) HP:0001263
29 areflexia63 HP:0001284
30 dystonia63 HP:0001332
31 decreased fetal movement63 HP:0001558
32 talipes equinovarus63 HP:0001762
33 cerebral atrophy63 HP:0002059
34 apnea63 HP:0002104
35 apraxia63 HP:0002186
36 drooling63 HP:0002307
37 neonatal respiratory distress63 HP:0002643
38 arthrogryposis multiplex congenita63 HP:0002804
39 hip dislocation63 HP:0002827
40 hyperlordosis63 HP:0003307
41 distal amyotrophy63 53 Very frequent (99-80%) HP:0003693
42 short stature63 HP:0004322
43 congenital foot contractures63 53 Very frequent (99-80%) HP:0005745
44 proximal placement of thumb63 HP:0009623
45 high anterior hairline63 HP:0009890
46 facial palsy63 HP:0010628
47 u-shaped upper lip vermilion63 HP:0010806
48 feeding difficulties63 HP:0011968
49 camptodactyly63 HP:0012385
50 delayed myelination63 HP:0012448
51 abnormality of eye movement53 Very frequent (99-80%)

UMLS symptoms related to Wieacker-Wolff Syndrome:


drooling, muscle spasticity, ophthalmoplegia, seizures, facial paresis

Drugs & Therapeutics for Wieacker-Wolff Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Wieacker-Wolff Syndrome

Genetic Tests for Wieacker-Wolff Syndrome

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Genetic tests related to Wieacker-Wolff Syndrome:

id Genetic test Affiliating Genes
1 Wieacker Syndrome26
2 Wieacker-Wolff Syndrome24 ZC4H2

Anatomical Context for Wieacker-Wolff Syndrome

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MalaCards organs/tissues related to Wieacker-Wolff Syndrome:

35
Skeletal muscle, Eye

Animal Models for Wieacker-Wolff Syndrome or affiliated genes

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Publications for Wieacker-Wolff Syndrome

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Articles related to Wieacker-Wolff Syndrome:

idTitleAuthorsYear
1
Localization of the gene for Wieacker-Wolff syndrome in the pericentromeric region of the X chromosome. (9272167)
1997
2
Close linkage of the Wieacker-Wolff syndrome to the DNA segment DXYS1 in proximal Xq. (2890303)
1987

Variations for Wieacker-Wolff Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Wieacker-Wolff Syndrome:

69
id Symbol AA change Variation ID SNP ID
1ZC4H2p.Val63LeuVAR_069621rs398122938
2ZC4H2p.Arg198GlnVAR_069622
3ZC4H2p.Pro201SerVAR_069623rs398122939
4ZC4H2p.Arg213TrpVAR_069624

Clinvar genetic disease variations for Wieacker-Wolff Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ZC4H2NM_018684.3(ZC4H2): c.187G> C (p.Val63Leu)SNVPathogenicrs398122938GRCh37Chr X, 64141735: 64141735
2ZC4H2NM_018684.3(ZC4H2): c.593G> A (p.Arg198Gln)SNVPathogenicrs879255235GRCh38Chr X, 64917865: 64917865
3ZC4H2NM_018684.3(ZC4H2): c.601C> T (p.Pro201Ser)SNVPathogenicrs398122939GRCh37Chr X, 64137737: 64137737
4ZC4H2NM_018684.3(ZC4H2): c.637C> T (p.Arg213Trp)SNVPathogenicrs879255236GRCh37Chr X, 64137701: 64137701

Expression for genes affiliated with Wieacker-Wolff Syndrome

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Search GEO for disease gene expression data for Wieacker-Wolff Syndrome.

Pathways for genes affiliated with Wieacker-Wolff Syndrome

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GO Terms for genes affiliated with Wieacker-Wolff Syndrome

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Sources for Wieacker-Wolff Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet