MCID: WCK001
MIFTS: 36

Wieacker-Wolff Syndrome

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

Aliases & Classifications for Wieacker-Wolff Syndrome

MalaCards integrated aliases for Wieacker-Wolff Syndrome:

Name: Wieacker-Wolff Syndrome 54 24 56 13 69
Miles-Carpenter X-Linked Mental Retardation Syndrome 50 71 69
Wieacker Syndrome 24 71 29
Mental Retardation, X-Linked, with Congenital Contractures and Low Fingertip Arches 50 71
Contractures of Feet, Muscle Atrophy, and Oculomotor Apraxia 24 71
Mental Retardation, X-Linked, Syndromic 4 50 71
Mrxs4 50 71
Mcs 50 71
Apraxia, Oculomotor, with Congenital Contractures and Muscle Atrophy 24
Oculomotor Apraxia with Congenital Contractures and Muscle Atrophy 71
Intellectual Disability-Developmental Delay-Contractures Syndrome 56
Foot Contractures-Muscle Atrophy-Oculomotor Apraxia Syndrome 56
X-Linked Intellectual Disability, Miles-Carpenter Type 56
Wieacker-Wolf Syndrome 71
Wrwf 71

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;
x-linked intellectual disability, miles-carpenter type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

54
Miscellaneous:
onset in utero
carrier females may show mild features, such as mild contractures, club feet, and intellectual disability

Inheritance:
x-linked recessive


HPO:

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


Classifications:



Summaries for Wieacker-Wolff Syndrome

OMIM : 54
Wieacker-Wolff syndrome is 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 (summary by Hirata et al., 2013). (314580)

MalaCards based summary : Wieacker-Wolff Syndrome, also known as miles-carpenter x-linked mental retardation syndrome, is related to miles-carpenter syndrome and metachondromatosis, and has symptoms including scoliosis, ptosis and oculomotor apraxia. An important gene associated with Wieacker-Wolff Syndrome is ZC4H2 (Zinc Finger C4H2-Type Containing). Affiliated tissues include skin, skeletal muscle and eye.

UniProtKB/Swiss-Prot : 71 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

Graphical network of the top 20 diseases related to Wieacker-Wolff Syndrome:



Diseases related to Wieacker-Wolff Syndrome

Symptoms & Phenotypes for Wieacker-Wolff Syndrome

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Mouth:
high-arched palate
drooling
broad alveolar ridges
carp-shaped mouth

Skeletal- Spine:
scoliosis
kyphosis
lordosis

Head And Neck- Eyes:
ptosis
upslanting palpebral fissures
exotropia
oculomotor apraxia (in some patients)

Head And Neck- Ears:
low-set ears

Skeletal- Pelvis:
hip dislocation

Respiratory:
apnea
neonatal respiratory distress

Head And Neck- Neck:
short neck

Prenatal Manifestations- Movement:
decreased fetal movements

Muscle Soft Tissue:
muscle weakness, severe
fat pads on the hands and feet

Skin Nails & Hair- Skin:
low fingerprint arches
palmar hyperkeratosis

Head And Neck- Face:
facial weakness
flat philtrum
micrognathia
retrognathia
long philtrum

Skeletal:
joint contractures
arthrogryposis, congenital

Neurologic- Central Nervous System:
hypotonia
delayed psychomotor development
mental retardation
speech delay
dystonia
more
Head And Neck- Head:
microcephaly

Abdomen- Gastroin testinal:
poor feeding

Skeletal- Feet:
club feet
equinovarus
proximally placed toes

Skeletal- Hands:
camptodactyly
ulnar deviation of the fingers
proximally placed thumbs

Neurologic- Peripheral Nervous System:
areflexia

Skin Nails & Hair- Hair:
high anterior hairline

Head And Neck- Nose:
upturned nares


Clinical features from OMIM:

314580

Human phenotypes related to Wieacker-Wolff Syndrome:

56 32 (show top 50) (show all 61)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 Occasional (29-5%) HP:0002650
2 ptosis 56 32 Occasional (29-5%) HP:0000508
3 oculomotor apraxia 56 32 occasional (7.5%) Very frequent (99-80%) HP:0000657
4 kyphosis 56 32 Occasional (29-5%) HP:0002808
5 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
6 intellectual disability, mild 56 32 Very frequent (99-80%) HP:0001256
7 exotropia 56 32 Very frequent (99-80%) HP:0000577
8 distal amyotrophy 56 32 Very frequent (99-80%) HP:0003693
9 congenital foot contractures 56 32 Very frequent (99-80%) HP:0005745
10 short stature 32 HP:0004322
11 dystonia 32 HP:0001332
12 strabismus 56 Occasional (29-5%)
13 intellectual disability, severe 56 Frequent (79-30%)
14 spasticity 32 HP:0001257
15 cerebral atrophy 32 HP:0002059
16 seizures 32 HP:0001250
17 microcephaly 32 HP:0000252
18 low-set ears 32 HP:0000369
19 micrognathia 32 HP:0000347
20 retrognathia 32 HP:0000278
21 arthrogryposis multiplex congenita 32 HP:0002804
22 hip dislocation 32 HP:0002827
23 apnea 32 HP:0002104
24 microcornea 56 Frequent (79-30%)
25 camptodactyly 32 HP:0012385
26 talipes equinovarus 32 HP:0001762
27 short neck 32 HP:0000470
28 narrow chest 32 HP:0000774
29 intellectual disability 32 HP:0001249
30 areflexia 32 HP:0001284
31 long philtrum 32 HP:0000343
32 delayed myelination 32 HP:0012448
33 hypogonadism 56 Frequent (79-30%)
34 feeding difficulties 32 HP:0011968
35 high palate 32 HP:0000218
36 joint hyperflexibility 56 Frequent (79-30%)
37 hyperlordosis 32 HP:0003307
38 smooth philtrum 32 HP:0000319
39 facial asymmetry 56 Frequent (79-30%)
40 decreased fetal movement 32 HP:0001558
41 muscular hypotonia 32 HP:0001252
42 high anterior hairline 32 HP:0009890
43 drooling 32 HP:0002307
44 apraxia 32 HP:0002186
45 facial palsy 32 HP:0010628
46 broad alveolar ridges 32 HP:0000187
47 neonatal respiratory distress 32 HP:0002643
48 delayed speech and language development 32 HP:0000750
49 abnormal dermatoglyphics 56 Very frequent (99-80%)
50 abnormality of eye movement 56 Very frequent (99-80%)

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
Skin, Skeletal Muscle, 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:

71
id Symbol AA change Variation ID SNP ID
1 ZC4H2 p.Val63Leu VAR_069621 rs398122938
2 ZC4H2 p.Arg198Gln VAR_069622 rs879255235
3 ZC4H2 p.Pro201Ser VAR_069623 rs398122939
4 ZC4H2 p.Arg213Trp VAR_069624 rs879255236

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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