MCID: WCK001
MIFTS: 32

Wieacker-Wolff Syndrome

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

Aliases & Classifications for Wieacker-Wolff Syndrome

MalaCards integrated aliases for Wieacker-Wolff Syndrome:

Name: Wieacker-Wolff Syndrome 57 59 13 40 73
Wieacker Syndrome 57 76 75 29 6
Miles-Carpenter X-Linked Mental Retardation Syndrome 57 75 73
Mental Retardation, X-Linked, with Congenital Contractures and Low Fingertip Arches 57 75
Contractures of Feet, Muscle Atrophy, and Oculomotor Apraxia 57 75
Mental Retardation, X-Linked, Syndromic 4 57 75
Mrxs4 57 75
Wrwf 57 75
Mcs 57 75
Apraxia, Oculomotor, with Congenital Contractures and Muscle Atrophy 57
Oculomotor Apraxia with Congenital Contractures and Muscle Atrophy 75
Intellectual Disability-Developmental Delay-Contractures Syndrome 59
Foot Contractures-Muscle Atrophy-Oculomotor Apraxia Syndrome 59
Miles-Carpenter X-Linked Mental Retardation Syndrome; Mcs 57
X-Linked Intellectual Disability, Miles-Carpenter Type 59
Mental Retardation, X-Linked, Syndromic 4; Mrxs4 57
Wieacker-Wolf Syndrome 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
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 : 57 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 wieacker syndrome, is related to intellectual disability-developmental delay-contractures syndrome and miles-carpenter syndrome, and has symptoms including apnea, muscle spasticity and ophthalmoplegia. An important gene associated with Wieacker-Wolff Syndrome is ZC4H2 (Zinc Finger C4H2-Type Containing). Affiliated tissues include eye and skeletal muscle, and related phenotypes are ptosis and scoliosis

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Wieacker Syndrome or Wieacker-Wolff syndrome is a rare, severely disabling, genetic disorder. It is an... more...

Related Diseases for Wieacker-Wolff Syndrome

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

# Related Disease Score Top Affiliating Genes
1 intellectual disability-developmental delay-contractures syndrome 11.8
2 miles-carpenter syndrome 11.6
3 cleft palate, isolated 10.2

Symptoms & Phenotypes for Wieacker-Wolff Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

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

Skeletal Spine:
scoliosis
kyphosis
lordosis

Growth Height:
short stature

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

Skeletal Pelvis:
hip dislocation

Skin Nails Hair Hair:
high anterior hairline

Skin Nails Hair Skin:
palmar hyperkeratosis
low fingerprint arches

Abdomen Gastrointestinal:
poor feeding

Skeletal Feet:
club feet
equinovarus
proximally placed toes

Prenatal Manifestations Movement:
decreased fetal movements

Head And Neck Neck:
short neck

Neurologic Central Nervous System:
seizures
spasticity
dystonia
cerebral atrophy
delayed myelination
more
Head And Neck Head:
microcephaly

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

Respiratory:
apnea
neonatal respiratory distress

Neurologic Peripheral Nervous System:
areflexia

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

Chest External Features:
narrow shoulders
narrow thorax

Skeletal:
joint contractures
arthrogryposis, congenital

Head And Neck Nose:
upturned nares

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


Clinical features from OMIM:

314580

Human phenotypes related to Wieacker-Wolff Syndrome:

59 32 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 Occasional (29-5%) HP:0000508
2 scoliosis 59 32 Occasional (29-5%) HP:0002650
3 kyphosis 59 32 Occasional (29-5%) HP:0002808
4 global developmental delay 59 32 Very frequent (99-80%) HP:0001263
5 intellectual disability, mild 59 32 Very frequent (99-80%) HP:0001256
6 oculomotor apraxia 59 32 occasional (7.5%) Very frequent (99-80%) HP:0000657
7 distal amyotrophy 59 32 Very frequent (99-80%) HP:0003693
8 exotropia 59 32 Very frequent (99-80%) HP:0000577
9 congenital foot contractures 59 32 Very frequent (99-80%) HP:0005745
10 low-set ears 32 HP:0000369
11 short neck 32 HP:0000470
12 high palate 32 HP:0000218
13 abnormality of eye movement 59 Very frequent (99-80%)
14 seizures 32 HP:0001250
15 spasticity 32 HP:0001257
16 neurological speech impairment 59 Very frequent (99-80%)
17 hyperlordosis 32 HP:0003307
18 facial palsy 32 HP:0010628
19 delayed speech and language development 32 HP:0000750
20 microcephaly 32 HP:0000252
21 smooth philtrum 32 HP:0000319
22 anteverted nares 32 HP:0000463
23 short stature 32 HP:0004322
24 intellectual disability, severe 59 Frequent (79-30%)
25 abnormality of movement 59 Very frequent (99-80%)
26 skeletal muscle atrophy 59 Frequent (79-30%)
27 long philtrum 32 HP:0000343
28 micrognathia 32 HP:0000347
29 feeding difficulties 32 HP:0011968
30 retrognathia 32 HP:0000278
31 strabismus 59 Occasional (29-5%)
32 narrow chest 32 HP:0000774
33 joint hyperflexibility 59 Frequent (79-30%)
34 broad alveolar ridges 32 HP:0000187
35 limitation of joint mobility 59 Very frequent (99-80%)
36 abnormal dermatoglyphics 59 Very frequent (99-80%)
37 dystonia 32 HP:0001332
38 apnea 32 HP:0002104
39 arthrogryposis multiplex congenita 32 HP:0002804
40 hypogonadism 59 Frequent (79-30%)
41 hip dislocation 32 HP:0002827
42 clinodactyly of the 5th finger 59 Very frequent (99-80%)
43 upslanted palpebral fissure 32 HP:0000582
44 talipes equinovarus 32 HP:0001762
45 areflexia 32 HP:0001284
46 decreased fetal movement 32 HP:0001558
47 facial asymmetry 59 Frequent (79-30%)
48 microcornea 59 Frequent (79-30%)
49 proximal placement of thumb 32 HP:0009623
50 high anterior hairline 32 HP:0009890

UMLS symptoms related to Wieacker-Wolff Syndrome:


apnea, 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:

# Genetic test Affiliating Genes
1 Wieacker Syndrome 29 ZC4H2

Anatomical Context for Wieacker-Wolff Syndrome

MalaCards organs/tissues related to Wieacker-Wolff Syndrome:

41
Eye, Skeletal Muscle

Publications for Wieacker-Wolff Syndrome

Articles related to Wieacker-Wolff Syndrome:

# Title Authors Year
1
Wieacker-Wolff syndrome with associated cleft palate in a female case. ( 29150902 )
2018
2
Localization of the gene for Wieacker-Wolff syndrome in the pericentromeric region of the X chromosome. ( 9272167 )
1997
3
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:

75
# 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
5 ZC4H2 p.Arg18Lys VAR_079397
6 ZC4H2 p.Leu66His VAR_079398

ClinVar genetic disease variations for Wieacker-Wolff Syndrome:

6
(show all 19)
# 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.187G> C (p.Val63Leu) single nucleotide variant Pathogenic rs398122938 GRCh38 Chromosome X, 64921855: 64921855
3 ZC4H2 NM_018684.3(ZC4H2): c.593G> A (p.Arg198Gln) single nucleotide variant Pathogenic rs879255235 GRCh38 Chromosome X, 64917865: 64917865
4 ZC4H2 NM_018684.3(ZC4H2): c.593G> A (p.Arg198Gln) single nucleotide variant Pathogenic rs879255235 GRCh37 Chromosome X, 64137745: 64137745
5 ZC4H2 NM_018684.3(ZC4H2): c.601C> T (p.Pro201Ser) single nucleotide variant Pathogenic rs398122939 GRCh37 Chromosome X, 64137737: 64137737
6 ZC4H2 NM_018684.3(ZC4H2): c.601C> T (p.Pro201Ser) single nucleotide variant Pathogenic rs398122939 GRCh38 Chromosome X, 64917857: 64917857
7 ZC4H2 NM_018684.3(ZC4H2): c.637C> T (p.Arg213Trp) single nucleotide variant Pathogenic rs879255236 GRCh37 Chromosome X, 64137701: 64137701
8 ZC4H2 NM_018684.3(ZC4H2): c.637C> T (p.Arg213Trp) single nucleotide variant Pathogenic rs879255236 GRCh38 Chromosome X, 64917821: 64917821
9 ZC4H2 NM_018684.3(ZC4H2): c.197T> A (p.Leu66His) single nucleotide variant Pathogenic rs1057520297 GRCh38 Chromosome X, 64921845: 64921845
10 ZC4H2 NM_018684.3(ZC4H2): c.197T> A (p.Leu66His) single nucleotide variant Pathogenic rs1057520297 GRCh37 Chromosome X, 64141725: 64141725
11 ZC4H2 NM_018684.3(ZC4H2): c.225+5G> A single nucleotide variant Likely pathogenic rs1057520298 GRCh37 Chromosome X, 64141692: 64141692
12 ZC4H2 NM_018684.3(ZC4H2): c.225+5G> A single nucleotide variant Likely pathogenic rs1057520298 GRCh38 Chromosome X, 64921812: 64921812
13 ZC4H2 NM_018684.3(ZC4H2): c.53G> A (p.Arg18Lys) single nucleotide variant Pathogenic rs1057520299 GRCh38 Chromosome X, 64976325: 64976325
14 ZC4H2 NM_018684.3(ZC4H2): c.53G> A (p.Arg18Lys) single nucleotide variant Pathogenic rs1057520299 GRCh37 Chromosome X, 64196205: 64196205
15 ZC4H2 NC_000023.10: g.64141869G> A single nucleotide variant not provided GRCh37 Chromosome X, 64141869: 64141869
16 ZC4H2 NM_018684.3(ZC4H2): c.22_23delAT (p.Met8Valfs) deletion Pathogenic GRCh37 Chromosome X, 64196235: 64196236
17 ZC4H2 NM_018684.3(ZC4H2): c.22_23delAT (p.Met8Valfs) deletion Pathogenic GRCh38 Chromosome X, 64976355: 64976356
18 ZC4H2 NM_018684.3(ZC4H2): c.378_380delAGA (p.Glu128del) deletion Pathogenic rs750367160 GRCh37 Chromosome X, 64139979: 64139981
19 ZC4H2 NM_018684.3(ZC4H2): c.378_380delAGA (p.Glu128del) deletion Pathogenic rs750367160 GRCh38 Chromosome X, 64920099: 64920101

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
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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