MCID: WCK001
MIFTS: 30

Wieacker-Wolff Syndrome malady

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

Aliases & Classifications for Wieacker-Wolff Syndrome

About this section
Sources:
50OMIM, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Wieacker-Wolff Syndrome:

Name: Wieacker-Wolff Syndrome 50 23 52 12 66
Wieacker Syndrome 23 68 25
Contractures of Feet, Muscle Atrophy, and Oculomotor Apraxia 23 68
Apraxia, Oculomotor, with Congenital Contractures and Muscle Atrophy 23
Oculomotor Apraxia with Congenital Contractures and Muscle Atrophy 68
 
Intellectual Disability-Developmental Delay-Contractures Syndrome 52
Foot Contractures-Muscle Atrophy-Oculomotor Apraxia Syndrome 52
Wieacker-Wolf Syndrome 68
Wrwf 68

Characteristics:

Orphanet epidemiological data:

52
wieacker-wolff syndrome:
Inheritance: Not applicable,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

62
wieacker-wolff syndrome:
Inheritance: x-linked recessive inheritance
Onset and clinical course: congenital onset


Classifications:



External Ids:

OMIM50 314580
Orphanet52 ORPHA3454
ICD10 via Orphanet29 G71.8
MESH via Orphanet38 C536703
UMLS via Orphanet67 C0796200
MedGen35 C0796200

Summaries for Wieacker-Wolff Syndrome

About this section
OMIM:50 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:68 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

About this section

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 syndrome11.4
2menkes disease9.5ALAS2, ZC4H2

Symptoms for Wieacker-Wolff Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

314580

Clinical features from OMIM:

314580

Symptoms:

 52 (show all 14)
  • strabismus
  • abnormality of eye movement
  • ptosis
  • oculomotor apraxia
  • intellectual disability, mild
  • global developmental delay
  • limitation of joint mobility
  • neurological speech impairment
  • scoliosis
  • kyphosis
  • distal amyotrophy
  • clinodactyly of the 5th finger
  • congenital foot contractures
  • abnormality of movement

HPO human phenotypes related to Wieacker-Wolff Syndrome:

(show all 53)
id Description Frequency HPO Source Accession
1 ophthalmoparesis hallmark (90%) HP:0000597
2 limitation of joint mobility hallmark (90%) HP:0001376
3 neurological speech impairment hallmark (90%) HP:0002167
4 skeletal muscle atrophy hallmark (90%) HP:0003202
5 clinodactyly of the 5th finger hallmark (90%) HP:0004209
6 abnormality of movement hallmark (90%) HP:0100022
7 cognitive impairment hallmark (90%) HP:0100543
8 strabismus occasional (7.5%) HP:0000486
9 ptosis occasional (7.5%) HP:0000508
10 scoliosis occasional (7.5%) HP:0002650
11 kyphosis occasional (7.5%) HP:0002808
12 oculomotor apraxia rare (5%) HP:0000657
13 broad alveolar ridges HP:0000187
14 high palate HP:0000218
15 retrognathia HP:0000278
16 smooth philtrum HP:0000319
17 long philtrum HP:0000343
18 micrognathia HP:0000347
19 low-set ears HP:0000369
20 short neck HP:0000470
21 ptosis HP:0000508
22 upslanted palpebral fissure HP:0000582
23 delayed speech and language development HP:0000750
24 narrow chest HP:0000774
25 seizures HP:0001250
26 muscular hypotonia HP:0001252
27 intellectual disability, mild HP:0001256
28 spasticity HP:0001257
29 global developmental delay HP:0001263
30 areflexia HP:0001284
31 dystonia HP:0001332
32 decreased fetal movement HP:0001558
33 talipes equinovarus HP:0001762
34 cerebral atrophy HP:0002059
35 apnea HP:0002104
36 apraxia HP:0002186
37 drooling HP:0002307
38 neonatal respiratory distress HP:0002643
39 scoliosis HP:0002650
40 arthrogryposis multiplex congenita HP:0002804
41 kyphosis HP:0002808
42 hip dislocation HP:0002827
43 hyperlordosis HP:0003307
44 distal amyotrophy HP:0003693
45 short stature HP:0004322
46 congenital foot contractures HP:0005745
47 proximal placement of thumb HP:0009623
48 high anterior hairline HP:0009890
49 facial palsy HP:0010628
50 u-shaped upper lip vermilion HP:0010806
51 feeding difficulties HP:0011968
52 camptodactyly HP:0012385
53 delayed myelination HP:0012448

UMLS symptoms related to Wieacker-Wolff Syndrome:


drooling, muscle spasticity, ophthalmoplegia, seizures, facial paresis

Drugs & Therapeutics for Wieacker-Wolff Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Wieacker-Wolff Syndrome

Genetic Tests for Wieacker-Wolff Syndrome

About this section

Genetic tests related to Wieacker-Wolff Syndrome:

id Genetic test Affiliating Genes
1 Wieacker Syndrome25
2 Wieacker-Wolff Syndrome23 ZC4H2

Anatomical Context for Wieacker-Wolff Syndrome

About this section

MalaCards organs/tissues related to Wieacker-Wolff Syndrome:

34
Skeletal muscle, Eye

Animal Models for Wieacker-Wolff Syndrome or affiliated genes

About this section

Publications for Wieacker-Wolff Syndrome

About this section

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

About this section

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

68
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)single nucleotide variantPathogenicrs398122938GRCh37Chr X, 64141735: 64141735
2ZC4H2NM_018684.3(ZC4H2): c.593G> A (p.Arg198Gln)single nucleotide variantPathogenicrs879255235GRCh38Chr X, 64917865: 64917865
3ZC4H2NM_018684.3(ZC4H2): c.601C> T (p.Pro201Ser)single nucleotide variantPathogenicrs398122939GRCh37Chr X, 64137737: 64137737
4ZC4H2NM_018684.3(ZC4H2): c.637C> T (p.Arg213Trp)single nucleotide variantPathogenicrs879255236GRCh37Chr X, 64137701: 64137701

Expression for genes affiliated with Wieacker-Wolff Syndrome

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

Pathways for genes affiliated with Wieacker-Wolff Syndrome

About this section

GO Terms for genes affiliated with Wieacker-Wolff Syndrome

About this section

Sources for Wieacker-Wolff Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet