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, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Wieacker-Wolff Syndrome:

Name: Wieacker-Wolff Syndrome 52 24 54 12 68
Wieacker Syndrome 24 70 27
Contractures of Feet, Muscle Atrophy, and Oculomotor Apraxia 24 70
Apraxia, Oculomotor, with Congenital Contractures and Muscle Atrophy 24
Oculomotor Apraxia with Congenital Contractures and Muscle Atrophy 70
 
Intellectual Disability-Developmental Delay-Contractures Syndrome 54
Foot Contractures-Muscle Atrophy-Oculomotor Apraxia Syndrome 54
Wieacker-Wolf Syndrome 70
Wrwf 70

Characteristics:

Orphanet epidemiological data:

54
wieacker-wolff syndrome:
Inheritance: Not applicable,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

64
wieacker-wolff syndrome:
Inheritance: x-linked recessive inheritance
Onset and clinical course: congenital onset

Classifications:



External Ids:

OMIM52 314580
Orphanet54 ORPHA3454
MESH via Orphanet40 C536703
ICD10 via Orphanet31 G71.8
UMLS via Orphanet69 C0796200
MedGen37 C0796200

Summaries for Wieacker-Wolff Syndrome

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OMIM:52 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:70 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 & Phenotypes 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:

 64 54 (show all 51)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ophthalmoparesis64 hallmark (90%) HP:0000597
2 limitation of joint mobility64 54 hallmark (90%) Very frequent (99-80%) HP:0001376
3 neurological speech impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0002167
4 skeletal muscle atrophy64 hallmark (90%) HP:0003202
5 clinodactyly of the 5th finger64 54 hallmark (90%) Very frequent (99-80%) HP:0004209
6 abnormality of movement64 54 hallmark (90%) Very frequent (99-80%) HP:0100022
7 cognitive impairment64 hallmark (90%) HP:0100543
8 strabismus64 54 occasional (7.5%) Occasional (29-5%) HP:0000486
9 ptosis64 54 occasional (7.5%) Occasional (29-5%) HP:0000508
10 scoliosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002650
11 kyphosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002808
12 oculomotor apraxia64 54 rare (5%) Very frequent (99-80%) HP:0000657
13 broad alveolar ridges64 HP:0000187
14 high palate64 HP:0000218
15 retrognathia64 HP:0000278
16 smooth philtrum64 HP:0000319
17 long philtrum64 HP:0000343
18 micrognathia64 HP:0000347
19 low-set ears64 HP:0000369
20 short neck64 HP:0000470
21 upslanted palpebral fissure64 HP:0000582
22 delayed speech and language development64 HP:0000750
23 narrow chest64 HP:0000774
24 seizures64 HP:0001250
25 muscular hypotonia64 HP:0001252
26 intellectual disability, mild64 54 Very frequent (99-80%) HP:0001256
27 spasticity64 HP:0001257
28 global developmental delay64 54 Very frequent (99-80%) HP:0001263
29 areflexia64 HP:0001284
30 dystonia64 HP:0001332
31 decreased fetal movement64 HP:0001558
32 talipes equinovarus64 HP:0001762
33 cerebral atrophy64 HP:0002059
34 apnea64 HP:0002104
35 apraxia64 HP:0002186
36 drooling64 HP:0002307
37 neonatal respiratory distress64 HP:0002643
38 arthrogryposis multiplex congenita64 HP:0002804
39 hip dislocation64 HP:0002827
40 hyperlordosis64 HP:0003307
41 distal amyotrophy64 54 Very frequent (99-80%) HP:0003693
42 short stature64 HP:0004322
43 congenital foot contractures64 54 Very frequent (99-80%) HP:0005745
44 proximal placement of thumb64 HP:0009623
45 high anterior hairline64 HP:0009890
46 facial palsy64 HP:0010628
47 u-shaped upper lip vermilion64 HP:0010806
48 feeding difficulties64 HP:0011968
49 camptodactyly64 HP:0012385
50 delayed myelination64 HP:0012448
51 abnormality of eye movement54 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 Syndrome27
2 Wieacker-Wolff Syndrome24 ZC4H2

Anatomical Context for Wieacker-Wolff Syndrome

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MalaCards organs/tissues related to Wieacker-Wolff Syndrome:

36
Skeletal muscle, Eye

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:

70
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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet