WWS
MCID: INT277
MIFTS: 26

Intellectual Disability-Developmental Delay-Contractures Syndrome (WWS)

Categories: Rare diseases

Aliases & Classifications for Intellectual Disability-Developmental Delay-Contractures...

MalaCards integrated aliases for Intellectual Disability-Developmental Delay-Contractures Syndrome:

Name: Intellectual Disability-Developmental Delay-Contractures Syndrome 53
Wieacker Wolff Syndrome 53 29 6
Apraxia, Oculomotor, with Congenital Contractures and Muscle Atrophy 53
Contractures of Feet, Muscle Atrophy, and Oculomotor Apraxia 53
Wieacker-Wolff Syndrome 73
Wieacker Syndrome 53
Wws 53

Classifications:



Summaries for Intellectual Disability-Developmental Delay-Contractures...

NIH Rare Diseases : 53 Intellectual disability-developmental delay-contracturessyndrome is a rare, slowly progressive genetic disorder that is present at birth. It is characterized by contractures of the joints of the feet (arthrogryposis multiplex congenita), muscle degeneration (atrophy), mild intellectual disability and an impaired ability to move certain muscles of the eyes, face and tongue. Other symptoms might include spasticity and seizures. Intellectual disability-developmental delay-contractures syndrome is caused by mutations in the ZC4H2 gene and is inherited in an X-linked recessive fashion. Most people with intellectual disability-developmental delay-contractures syndrome are male; however carrier females have been reported to have mild symptoms. There is no known cure for intellectual disability-developmental delay-contractures syndrome. Treatment is symptomatic and supportive.

MalaCards based summary : Intellectual Disability-Developmental Delay-Contractures Syndrome, also known as wieacker wolff syndrome, is related to walker-warburg syndrome and muscular dystrophy-dystroglycanopathy , type a, 1, and has symptoms including seizures, apnea and ophthalmoplegia. An important gene associated with Intellectual Disability-Developmental Delay-Contractures Syndrome is ZC4H2 (Zinc Finger C4H2-Type Containing). Affiliated tissues include eye, tongue and lung, and related phenotypes are ptosis and neurological speech impairment

Related Diseases for Intellectual Disability-Developmental Delay-Contractures...

Diseases related to Intellectual Disability-Developmental Delay-Contractures Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 walker-warburg syndrome 11.9
2 muscular dystrophy-dystroglycanopathy , type a, 1 11.6
3 wieacker-wolff syndrome 11.5
4 apocrine gland secretion, variation in 11.2
5 muscular dystrophy-dystroglycanopathy , type a, 3 10.9
6 muscular dystrophy-dystroglycanopathy , type c, 1 10.9
7 muscular dystrophy-dystroglycanopathy , type a, 2 10.9
8 muscular dystrophy-dystroglycanopathy , type a, 5 10.9
9 muscular dystrophy-dystroglycanopathy , type a, 6 10.9
10 muscular dystrophy-dystroglycanopathy , type b, 1 10.9
11 muscular dystrophy-dystroglycanopathy , type a, 7 10.9
12 muscular dystrophy-dystroglycanopathy , type a, 8 10.9
13 muscular dystrophy-dystroglycanopathy , type a, 10 10.9
14 muscular dystrophy-dystroglycanopathy , type a, 11 10.9
15 muscular dystrophy-dystroglycanopathy , type a, 12 10.9
16 muscular dystrophy-dystroglycanopathy , type a, 13 10.9
17 muscular dystrophy-dystroglycanopathy , type a, 9 10.9
18 cleft palate, isolated 10.2
19 renal oncocytoma 10.1
20 glioma 10.1
21 hepatocellular carcinoma 10.0
22 small cell cancer of the lung 10.0
23 lung cancer 10.0
24 leukemia 10.0
25 alzheimer disease 9.9
26 holt-oram syndrome 9.9
27 myeloma, multiple 9.9
28 rett syndrome 9.9
29 cervical cancer 9.9
30 body mass index quantitative trait locus 1 9.9
31 leukemia, acute lymphoblastic 9.9
32 gastric cancer 9.9
33 cholangiocarcinoma 9.9
34 atrial fibrillation 9.9
35 autosomal recessive limb-girdle muscular dystrophy 9.9
36 lymphocytic leukemia 9.9
37 sarcoma 9.9
38 disease of mental health 9.9
39 thyroid cancer 9.9
40 infertility 9.9
41 acute t cell leukemia 9.9
42 monoclonal gammopathy of uncertain significance 9.9
43 muscular dystrophy 9.9
44 glioblastoma 9.9
45 limb-girdle muscular dystrophy 9.9
46 oral cancer 9.9
47 hypoxia 9.9

Graphical network of the top 20 diseases related to Intellectual Disability-Developmental Delay-Contractures Syndrome:



Diseases related to Intellectual Disability-Developmental Delay-Contractures Syndrome

Symptoms & Phenotypes for Intellectual Disability-Developmental Delay-Contractures...

Human phenotypes related to Intellectual Disability-Developmental Delay-Contractures Syndrome:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 occasional (7.5%) HP:0000508
2 neurological speech impairment 32 hallmark (90%) HP:0002167
3 scoliosis 32 occasional (7.5%) HP:0002650
4 kyphosis 32 occasional (7.5%) HP:0002808
5 global developmental delay 32 hallmark (90%) HP:0001263
6 intellectual disability, mild 32 hallmark (90%) HP:0001256
7 abnormality of movement 32 hallmark (90%) HP:0100022
8 strabismus 32 occasional (7.5%) HP:0000486
9 limitation of joint mobility 32 hallmark (90%) HP:0001376
10 clinodactyly of the 5th finger 32 hallmark (90%) HP:0004209
11 oculomotor apraxia 32 hallmark (90%) HP:0000657
12 distal amyotrophy 32 hallmark (90%) HP:0003693
13 congenital foot contractures 32 hallmark (90%) HP:0005745

UMLS symptoms related to Intellectual Disability-Developmental Delay-Contractures Syndrome:


seizures, apnea, ophthalmoplegia, facial paresis, muscle spasticity

Drugs & Therapeutics for Intellectual Disability-Developmental Delay-Contractures...

Search Clinical Trials , NIH Clinical Center for Intellectual Disability-Developmental Delay-Contractures Syndrome

Genetic Tests for Intellectual Disability-Developmental Delay-Contractures...

Genetic tests related to Intellectual Disability-Developmental Delay-Contractures Syndrome:

# Genetic test Affiliating Genes
1 Wieacker Wolff Syndrome 29 ZC4H2

Anatomical Context for Intellectual Disability-Developmental Delay-Contractures...

MalaCards organs/tissues related to Intellectual Disability-Developmental Delay-Contractures Syndrome:

41
Eye, Tongue, Lung, Thyroid, T Cells

Publications for Intellectual Disability-Developmental Delay-Contractures...

Articles related to Intellectual Disability-Developmental Delay-Contractures 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 Intellectual Disability-Developmental Delay-Contractures...

ClinVar genetic disease variations for Intellectual Disability-Developmental Delay-Contractures Syndrome:

6 (show all 22)
# 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.22_23delAT (p.Met8Valfs) deletion Pathogenic GRCh37 Chromosome X, 64196235: 64196236
16 ZC4H2 NM_018684.3(ZC4H2): c.22_23delAT (p.Met8Valfs) deletion Pathogenic GRCh38 Chromosome X, 64976355: 64976356
17 ZC4H2 NM_018684.3(ZC4H2): c.378_380delAGA (p.Glu128del) deletion Pathogenic rs750367160 GRCh37 Chromosome X, 64139979: 64139981
18 ZC4H2 NM_018684.3(ZC4H2): c.378_380delAGA (p.Glu128del) deletion Pathogenic rs750367160 GRCh38 Chromosome X, 64920099: 64920101
19 ZC4H2 NM_018684.3(ZC4H2): c.427C> T (p.Gln143Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 64139056: 64139056
20 ZC4H2 NM_018684.3(ZC4H2): c.427C> T (p.Gln143Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 64919176: 64919176
21 ZC4H2 NM_018684.3(ZC4H2): c.54-1G> A single nucleotide variant not provided GRCh37 Chromosome X, 64141869: 64141869
22 ZC4H2 NM_018684.3(ZC4H2): c.54-1G> A single nucleotide variant not provided GRCh38 Chromosome X, 64921989: 64921989

Expression for Intellectual Disability-Developmental Delay-Contractures...

Search GEO for disease gene expression data for Intellectual Disability-Developmental Delay-Contractures Syndrome.

Pathways for Intellectual Disability-Developmental Delay-Contractures...

GO Terms for Intellectual Disability-Developmental Delay-Contractures...

Sources for Intellectual Disability-Developmental Delay-Contractures...

3 CDC
7 CNVD
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10 dbSNP
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17 ExPASy
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74 UMLS via Orphanet
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