WRWF
MCID: WCK001
MIFTS: 28

Wieacker-Wolff Syndrome (WRWF) malady

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

Aliases & Classifications for Wieacker-Wolff Syndrome

Aliases & Descriptions for Wieacker-Wolff Syndrome:

Name: Wieacker-Wolff Syndrome 54 24 56 13 69
Wieacker Syndrome 24 66 29
Contractures of Feet, Muscle Atrophy, and Oculomotor Apraxia 24 66
Apraxia, Oculomotor, with Congenital Contractures and Muscle Atrophy 24
Oculomotor Apraxia with Congenital Contractures and Muscle Atrophy 66
Intellectual Disability-Developmental Delay-Contractures Syndrome 56
Foot Contractures-Muscle Atrophy-Oculomotor Apraxia Syndrome 56
Wieacker-Wolf Syndrome 66
Wrwf 66

Characteristics:

Orphanet epidemiological data:

56
intellectual disability-developmental delay-contractures syndrome
Inheritance: Not applicable,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

HPO:

32
wieacker-wolff syndrome:
Onset and clinical course congenital onset
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 314580
Orphanet 56 ORPHA3454
MESH via Orphanet 43 C536703
ICD10 via Orphanet 34 G71.8
UMLS via Orphanet 70 C0796200
MedGen 40 C0796200

Summaries for Wieacker-Wolff Syndrome

OMIM : 54 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 ptosis, scoliosis and kyphosis. An important gene associated with Wieacker-Wolff Syndrome is ZC4H2 (Zinc Finger C4H2-Type Containing). Affiliated tissues include eye.

UniProtKB/Swiss-Prot : 66 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

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

id Related Disease Score Top Affiliating Genes
1 intellectual disability-developmental delay-contractures syndrome 11.3
2 menkes disease 9.8 ALAS2 ZC4H2

Symptoms & Phenotypes for Wieacker-Wolff Syndrome

Symptoms by clinical synopsis from OMIM:

314580

Clinical features from OMIM:

314580

Human phenotypes related to Wieacker-Wolff Syndrome:

56 32 (show all 48)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 56 32 Occasional (29-5%) HP:0000508
2 scoliosis 56 32 Occasional (29-5%) HP:0002650
3 kyphosis 56 32 Occasional (29-5%) HP:0002808
4 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
5 intellectual disability, mild 56 32 Very frequent (99-80%) HP:0001256
6 oculomotor apraxia 56 32 Very frequent (99-80%) HP:0000657
7 distal amyotrophy 56 32 Very frequent (99-80%) HP:0003693
8 congenital foot contractures 56 32 Very frequent (99-80%) HP:0005745
9 seizures 32 HP:0001250
10 dystonia 32 HP:0001332
11 low-set ears 32 HP:0000369
12 short neck 32 HP:0000470
13 high palate 32 HP:0000218
14 abnormality of eye movement 56 Very frequent (99-80%)
15 muscular hypotonia 32 HP:0001252
16 spasticity 32 HP:0001257
17 neurological speech impairment 56 Very frequent (99-80%)
18 hyperlordosis 32 HP:0003307
19 facial palsy 32 HP:0010628
20 delayed speech and language development 32 HP:0000750
21 smooth philtrum 32 HP:0000319
22 short stature 32 HP:0004322
23 abnormality of movement 56 Very frequent (99-80%)
24 long philtrum 32 HP:0000343
25 micrognathia 32 HP:0000347
26 feeding difficulties 32 HP:0011968
27 retrognathia 32 HP:0000278
28 strabismus 56 Occasional (29-5%)
29 narrow chest 32 HP:0000774
30 broad alveolar ridges 32 HP:0000187
31 limitation of joint mobility 56 Very frequent (99-80%)
32 apnea 32 HP:0002104
33 arthrogryposis multiplex congenita 32 HP:0002804
34 hip dislocation 32 HP:0002827
35 clinodactyly of the 5th finger 56 Very frequent (99-80%)
36 apraxia 32 HP:0002186
37 upslanted palpebral fissure 32 HP:0000582
38 talipes equinovarus 32 HP:0001762
39 areflexia 32 HP:0001284
40 decreased fetal movement 32 HP:0001558
41 proximal placement of thumb 32 HP:0009623
42 high anterior hairline 32 HP:0009890
43 cerebral atrophy 32 HP:0002059
44 neonatal respiratory distress 32 HP:0002643
45 drooling 32 HP:0002307
46 u-shaped upper lip vermilion 32 HP:0010806
47 camptodactyly 32 HP:0012385
48 delayed myelination 32 HP:0012448

UMLS symptoms related to Wieacker-Wolff Syndrome:


muscle spasticity, ophthalmoplegia, seizures, facial paresis

Drugs & Therapeutics for Wieacker-Wolff Syndrome

Search Clinical Trials , NIH Clinical Center for Wieacker-Wolff Syndrome

Genetic Tests for Wieacker-Wolff Syndrome

Genetic tests related to Wieacker-Wolff Syndrome:

id Genetic test Affiliating Genes
1 Wieacker Syndrome 29
2 Wieacker-Wolff Syndrome 24 ZC4H2

Anatomical Context for Wieacker-Wolff Syndrome

MalaCards organs/tissues related to Wieacker-Wolff Syndrome:

39
Eye

Publications for Wieacker-Wolff Syndrome

Articles related to Wieacker-Wolff Syndrome:

id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 ZC4H2 p.Val63Leu VAR_069621 rs398122938
2 ZC4H2 p.Arg198Gln VAR_069622
3 ZC4H2 p.Pro201Ser VAR_069623 rs398122939
4 ZC4H2 p.Arg213Trp VAR_069624

ClinVar genetic disease variations for Wieacker-Wolff Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ZC4H2 NM_018684.3(ZC4H2): c.187G> C (p.Val63Leu) single nucleotide variant Pathogenic rs398122938 GRCh37 Chromosome X, 64141735: 64141735
2 ZC4H2 NM_018684.3(ZC4H2): c.593G> A (p.Arg198Gln) single nucleotide variant Pathogenic rs879255235 GRCh38 Chromosome X, 64917865: 64917865
3 ZC4H2 NM_018684.3(ZC4H2): c.601C> T (p.Pro201Ser) single nucleotide variant Pathogenic rs398122939 GRCh37 Chromosome X, 64137737: 64137737
4 ZC4H2 NM_018684.3(ZC4H2): c.637C> T (p.Arg213Trp) single nucleotide variant Pathogenic rs879255236 GRCh37 Chromosome X, 64137701: 64137701
5 ZC4H2 NM_018684.3(ZC4H2): c.197T> A (p.Leu66His) single nucleotide variant Pathogenic rs1057520297 GRCh38 Chromosome X, 64921845: 64921845
6 ZC4H2 NM_018684.3(ZC4H2): c.225+5G> A single nucleotide variant Pathogenic rs1057520298 GRCh37 Chromosome X, 64141692: 64141692
7 ZC4H2 NM_018684.3(ZC4H2): c.53G> A (p.Arg18Lys) single nucleotide variant Pathogenic rs1057520299 GRCh38 Chromosome X, 64976325: 64976325

Expression for Wieacker-Wolff Syndrome

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

Pathways for Wieacker-Wolff Syndrome

GO Terms for Wieacker-Wolff Syndrome

Sources for Wieacker-Wolff Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....