WRWF
MCID: WCK001
MIFTS: 35

Wieacker-Wolff Syndrome (WRWF)

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

Aliases & Classifications for Wieacker-Wolff Syndrome

MalaCards integrated aliases for Wieacker-Wolff Syndrome:

Name: Wieacker-Wolff Syndrome 58 60 38 13 41 74
Miles-Carpenter X-Linked Mental Retardation Syndrome 58 76 74
Wieacker Syndrome 58 77 76
Mental Retardation, X-Linked, with Congenital Contractures and Low Fingertip Arches 58 76
Contractures of Feet, Muscle Atrophy, and Oculomotor Apraxia 58 76
Mental Retardation, X-Linked, Syndromic 4 58 76
Mrxs4 58 76
Wrwf 58 76
Mcs 58 76
Apraxia, Oculomotor, with Congenital Contractures and Muscle Atrophy 58
Oculomotor Apraxia with Congenital Contractures and Muscle Atrophy 76
Intellectual Disability-Developmental Delay-Contractures Syndrome 60
Foot Contractures-Muscle Atrophy-Oculomotor Apraxia Syndrome 60
Miles-Carpenter X-Linked Mental Retardation Syndrome; Mcs 58
X-Linked Intellectual Disability, Miles-Carpenter Type 60
Mental Retardation, X-Linked, Syndromic 4; Mrxs4 58
Wieacker-Wolf Syndrome 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
Miscellaneous:
onset in utero
carrier females may show mild features, such as mild contractures, club feet, and intellectual disability
two females with large deletions (429 kb and 395 kb) on 11q11.2 that include zc4h2 as the only known gene have been reported with severe features of wiecker-wolff syndrome

Inheritance:
x-linked recessive


HPO:

33
wieacker-wolff syndrome:
Onset and clinical course congenital onset
Inheritance x-linked inheritance x-linked recessive inheritance


Classifications:



Summaries for Wieacker-Wolff Syndrome

OMIM : 58 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 intellectual disability-developmental delay-contractures syndrome and miles-carpenter syndrome, and has symptoms including seizures, apnea 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 abnormal dermatoglyphics and exotropia

UniProtKB/Swiss-Prot : 76 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 : 77 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:

(show top 50) (show all 125)
# Related Disease Score Top Affiliating Genes
1 intellectual disability-developmental delay-contractures syndrome 12.1
2 miles-carpenter syndrome 11.8
3 metachondromatosis 11.7
4 multiple chemical sensitivity 11.6
5 cryoglobulinemia, familial mixed 11.4
6 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 11.3
7 cone-rod dystrophy and hearing loss 2 11.1
8 congenital contractures 11.1
9 molluscum contagiosum 11.1
10 mixed cryoglobulinemia type iii 11.1
11 type ii mixed cryoglobulinemia 11.1
12 cleft palate, isolated 10.3
13 ewing sarcoma 10.2
14 neuroblastoma 1 10.2
15 multiple sclerosis 10.1
16 mycobacterium chelonae 10.1
17 blood group system, landsteiner-wiener 10.1
18 premature chromatid separation trait 10.1
19 retinoblastoma 10.1
20 psoriasis 7 10.1
21 psoriasis 11 10.1
22 psoriasis 13 10.1
23 psoriasis 10.1
24 rheumatoid arthritis 10.0
25 cystic fibrosis 10.0
26 blood group, junior system 10.0
27 blood group, gerbich system 10.0
28 blood group--wright antigen 9.9
29 frasier syndrome 9.9
30 larsen syndrome 9.9
31 prostate cancer 9.9
32 retinitis pigmentosa 9.9
33 horns in sheep 9.9
34 prostate cancer, hereditary, 8 9.9
35 coronary heart disease 1 9.9
36 prostate cancer, hereditary, 6 9.9
37 microvascular complications of diabetes 5 9.9
38 heart disease 9.9
39 cryoglobulinemia 9.9
40 rhabdomyosarcoma 9.9
41 rere-related disorders 9.9
42 glioblastoma 9.9
43 hypoxia 9.9
44 saethre-chotzen syndrome 9.8
45 amyotrophic lateral sclerosis 1 9.8
46 glioma susceptibility 1 9.8
47 hirschsprung disease 1 9.8
48 pallister-hall syndrome 9.8
49 papillomatosis, confluent and reticulated 9.8
50 mccune-albright syndrome 9.8

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



Diseases related to Wieacker-Wolff Syndrome

Symptoms & Phenotypes for Wieacker-Wolff Syndrome

Human phenotypes related to Wieacker-Wolff Syndrome:

60 33 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal dermatoglyphics 60 33 hallmark (90%) Very frequent (99-80%) HP:0007477
2 exotropia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000577
3 intellectual disability, severe 60 33 frequent (33%) Frequent (79-30%) HP:0010864
4 skeletal muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003202
5 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692
6 hypogonadism 60 33 frequent (33%) Frequent (79-30%) HP:0000135
7 facial asymmetry 60 33 frequent (33%) Frequent (79-30%) HP:0000324
8 microcornea 60 33 frequent (33%) Frequent (79-30%) HP:0000482
9 rocker bottom foot 60 33 frequent (33%) Frequent (79-30%) HP:0001838
10 oculomotor apraxia 60 33 occasional (7.5%) Very frequent (99-80%) HP:0000657
11 ptosis 60 33 Occasional (29-5%) HP:0000508
12 scoliosis 60 33 Occasional (29-5%) HP:0002650
13 kyphosis 60 33 Occasional (29-5%) HP:0002808
14 global developmental delay 60 33 Very frequent (99-80%) HP:0001263
15 intellectual disability, mild 60 33 Very frequent (99-80%) HP:0001256
16 distal amyotrophy 60 33 Very frequent (99-80%) HP:0003693
17 congenital foot contractures 60 33 Very frequent (99-80%) HP:0005745
18 low-set ears 33 HP:0000369
19 short neck 33 HP:0000470
20 high palate 33 HP:0000218
21 abnormality of eye movement 60 Very frequent (99-80%)
22 seizures 33 HP:0001250
23 spasticity 33 HP:0001257
24 neurological speech impairment 60 Very frequent (99-80%)
25 hyperlordosis 33 HP:0003307
26 facial palsy 33 HP:0010628
27 delayed speech and language development 33 HP:0000750
28 microcephaly 33 HP:0000252
29 smooth philtrum 33 HP:0000319
30 anteverted nares 33 HP:0000463
31 short stature 33 HP:0004322
32 abnormality of movement 60 Very frequent (99-80%)
33 long philtrum 33 HP:0000343
34 micrognathia 33 HP:0000347
35 feeding difficulties 33 HP:0011968
36 retrognathia 33 HP:0000278
37 strabismus 60 Occasional (29-5%)
38 narrow chest 33 HP:0000774
39 broad alveolar ridges 33 HP:0000187
40 limitation of joint mobility 60 Very frequent (99-80%)
41 dystonia 33 HP:0001332
42 apnea 33 HP:0002104
43 arthrogryposis multiplex congenita 33 HP:0002804
44 talipes equinovarus 33 HP:0001762
45 neonatal respiratory distress 33 HP:0002643
46 hip dislocation 33 HP:0002827
47 clinodactyly of the 5th finger 60 Very frequent (99-80%)
48 upslanted palpebral fissure 33 HP:0000582
49 areflexia 33 HP:0001284
50 decreased fetal movement 33 HP:0001558

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Wieacker-Wolff Syndrome:


seizures, apnea, ophthalmoplegia, muscle spasticity, facial paresis

Drugs & Therapeutics for Wieacker-Wolff Syndrome

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

Genetic Tests for Wieacker-Wolff Syndrome

Anatomical Context for Wieacker-Wolff Syndrome

MalaCards organs/tissues related to Wieacker-Wolff Syndrome:

42
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:

76
# 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 rs105752029

ClinVar genetic disease variations for Wieacker-Wolff Syndrome:

6 (show all 25)
# 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 NM_018684.3(ZC4H2): c.199C> T (p.Arg67Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1131691616 GRCh37 Chromosome X, 64141723: 64141723
16 ZC4H2 NM_018684.3(ZC4H2): c.199C> T (p.Arg67Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1131691616 GRCh38 Chromosome X, 64921843: 64921843
17 ZC4H2 NM_018684.3(ZC4H2): c.22_23delAT (p.Met8Valfs) deletion Pathogenic rs1555945816 GRCh37 Chromosome X, 64196235: 64196236
18 ZC4H2 NM_018684.3(ZC4H2): c.22_23delAT (p.Met8Valfs) deletion Pathogenic rs1555945816 GRCh38 Chromosome X, 64976355: 64976356
19 ZC4H2 NM_001178032.2(ZC4H2): c.309_311del (p.Glu105del) deletion Pathogenic rs750367160 GRCh37 Chromosome X, 64139979: 64139981
20 ZC4H2 NM_001178032.2(ZC4H2): c.309_311del (p.Glu105del) deletion Pathogenic rs750367160 GRCh38 Chromosome X, 64920099: 64920101
21 ZC4H2 NM_018684.3(ZC4H2): c.427C> T (p.Gln143Ter) single nucleotide variant Pathogenic rs1260869746 GRCh37 Chromosome X, 64139056: 64139056
22 ZC4H2 NM_018684.3(ZC4H2): c.427C> T (p.Gln143Ter) single nucleotide variant Pathogenic rs1260869746 GRCh38 Chromosome X, 64919176: 64919176
23 ZC4H2 NM_018684.3(ZC4H2): c.54-1G> A single nucleotide variant not provided GRCh37 Chromosome X, 64141869: 64141869
24 ZC4H2 NM_018684.3(ZC4H2): c.54-1G> A single nucleotide variant not provided GRCh38 Chromosome X, 64921989: 64921989
25 ZC4H2 NC_000023.10: g.64171841_64267316del95476 deletion Pathogenic GRCh37 Chromosome X, 64171841: 64267316

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

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