WHS
MCID: WLF002
MIFTS: 49

Wolf-Hirschhorn Syndrome (WHS) malady

Categories: Rare diseases, Genetic diseases, Ear diseases, Smell/Taste diseases

Aliases & Classifications for Wolf-Hirschhorn Syndrome

Aliases & Descriptions for Wolf-Hirschhorn Syndrome:

Name: Wolf-Hirschhorn Syndrome 54 12 23 50 24 25 13 42 14 69
Pitt-Rogers-Danks Syndrome 12 50 24 69
4p- Syndrome 23 50 24 25
Monosomy 4p 23 24 25
4p Deletion Syndrome 12 25
Wittwer Syndrome 50 69
Wolf Syndrome 50 24
Whs 50 25
Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation 50
Chromosome 4p16.3 Deletion Syndrome 12
Chromosome 4p Deletion Syndrome 25
Chromosome 4 Short Arm Deletion 69
Chromosome 4p Syndrome 50
Chromosome 4p Monosomy 25
Telomeric Deletion 4p 50
Partial Monosomy 4p 25
Distal Deletion 4p 50
Distal Monosomy 4p 50
Pitt Syndrome 12
Del Syndrome 25
4p Syndrome 50

Characteristics:

HPO:

32
wolf-hirschhorn syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:



External Ids:

OMIM 54 194190
Disease Ontology 12 DOID:0050460
ICD10 33 Q93.3
MeSH 42 D054877
NCIt 47 C35528
SNOMED-CT 64 17122004

Summaries for Wolf-Hirschhorn Syndrome

NIH Rare Diseases : 50 wolf-hirschhorn syndrome (whs) is a genetic disorder that affects many parts of the body. the major features include a characteristic facial appearance, delayed growth and development, intellectual disability, low muscle tone (hypotonia), and seizures. other features may include skeletal abnormalities, congenital heart defects, hearing loss, urinary tract malformations, and/or structural brain abnormalities. whs is caused by a missing piece (deletion) of genetic material near the end of the short (p) arm of chromosome 4 (written as 4p-). the size of the deletion varies among people with whs, and studies suggest larger deletions tend to result in more severe features. most cases of whs are not inherited, but some cases are inherited from a parent who does not have whs. treatment depends on the symptoms. last updated: 4/28/2017

MalaCards based summary : Wolf-Hirschhorn Syndrome, also known as pitt-rogers-danks syndrome, is related to chromosome 4p deletion and wieacker-wolff syndrome, and has symptoms including ataxia, seizures and hypertelorism. An important gene associated with Wolf-Hirschhorn Syndrome is NSD2 (Nuclear Receptor Binding SET Domain Protein 2), and among its related pathways/superpathways are Neuroscience and Lysine degradation. Affiliated tissues include heart, brain and eye, and related phenotypes are behavior/neurological and growth/size/body region

Genetics Home Reference : 25 Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures.

OMIM : 54 Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency,... (194190) more...

GeneReviews: NBK1183

Related Diseases for Wolf-Hirschhorn Syndrome

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

(show top 50) (show all 53)
id Related Disease Score Top Affiliating Genes
1 chromosome 4p deletion 11.5
2 wieacker-wolff syndrome 11.4
3 aplasia cutis congenita, nonsyndromic 11.2
4 woolly hair, autosomal dominant 11.1
5 hypotrichosis 8 11.0
6 hypotrichosis 7 11.0
7 distal chromosome 18q deletion syndrome 10.5
8 proximal chromosome 18q deletion syndrome 10.5
9 chromosome 3p deletion 10.5
10 chromosome 3p- syndrome 10.5
11 epilepsy 10.3
12 congenital diaphragmatic hernia 10.2
13 malignant hyperthermia 10.2
14 ring chromosome 4 10.1
15 hemangioma 10.1
16 split hand 10.1
17 hypospadias 10.1
18 autosomal dominant nonsyndromic deafness 69 10.0 FGFR3 WFS1
19 chromosome 16p11.2 deletion syndrome, 220kb 10.0 LETM1 NELFA NSD2
20 multiple myeloma 9.9
21 choroiditis 9.9
22 oligohydramnios 9.9
23 growth hormone deficiency 9.9
24 orbital cyst 9.9
25 status epilepticus 9.9
26 splenomegaly 9.9
27 chorioangioma 9.9
28 split hand foot malformation 9.9
29 hepatitis 9.9
30 wandering spleen 9.9
31 hypoplastic left heart syndrome 9.9
32 mongolian spot 9.9
33 cardiomyopathy 9.9
34 lymphoma 9.9
35 adenoma 9.9
36 seizure disorder 9.9
37 cutaneous t cell lymphoma 9.9
38 neuroblastoma 9.9
39 cleft lip 9.9
40 congenital portosystemic shunt 9.9
41 obesity 9.9
42 microphthalmia 9.9
43 vesicoureteral reflux 9.9
44 renal dysplasia 9.9
45 juvenile glaucoma 9.9
46 choroid plexus cyst 9.9
47 polydactyly 9.6
48 taurodontism 9.6
49 west syndrome 9.6
50 chromosomal deletion syndrome 9.6

Graphical network of the top 20 diseases related to Wolf-Hirschhorn Syndrome:



Diseases related to Wolf-Hirschhorn Syndrome

Symptoms & Phenotypes for Wolf-Hirschhorn Syndrome

Symptoms by clinical synopsis from OMIM:

194190

Clinical features from OMIM:

194190

Human phenotypes related to Wolf-Hirschhorn Syndrome:

32 (show top 50) (show all 116)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 seizures 32 HP:0001250
3 hypertelorism 32 HP:0000316
4 agenesis of corpus callosum 32 HP:0001274
5 frontal bossing 32 HP:0002007
6 hydrocephalus 32 HP:0000238
7 ptosis 32 HP:0000508
8 nystagmus 32 HP:0000639
9 precocious puberty 32 HP:0000826
10 intellectual disability 32 HP:0001249
11 muscular hypotonia 32 HP:0001252
12 failure to thrive 32 HP:0001508
13 eeg abnormality 32 HP:0002353
14 scoliosis 32 HP:0002650
15 kyphosis 32 HP:0002808
16 hearing impairment 32 HP:0000365
17 chronic otitis media 32 HP:0000389
18 global developmental delay 32 HP:0001263
19 hip dysplasia 32 HP:0001385
20 recurrent respiratory infections 32 HP:0002205
21 delayed skeletal maturation 32 HP:0002750
22 wide nasal bridge 32 HP:0000431
23 microtia 32 HP:0008551
24 microcephaly 32 HP:0000252
25 sensorineural hearing impairment 32 HP:0000407
26 optic atrophy 32 HP:0000648
27 short stature 32 HP:0004322
28 gastroesophageal reflux 32 HP:0002020
29 retinopathy 32 HP:0000488
30 stereotypy 32 HP:0000733
31 osteoporosis 32 HP:0000939
32 decreased muscle mass 32 HP:0003199
33 abnormality of the gallbladder 32 HP:0005264
34 intellectual disability, severe 32 HP:0010864
35 immunodeficiency 32 HP:0002721
36 abnormality of movement 32 HP:0100022
37 cleft palate 32 HP:0000175
38 micrognathia 32 HP:0000347
39 abnormality of the heart valves 32 HP:0001654
40 strabismus 32 HP:0000486
41 epicanthus 32 HP:0000286
42 megalocornea 32 HP:0000485
43 dolichocephaly 32 HP:0000268
44 abnormal form of the vertebral bodies 32 HP:0003312
45 cryptorchidism 32 HP:0000028
46 metatarsus adductus 32 HP:0001840
47 low posterior hairline 32 HP:0002162
48 aplasia/hypoplasia of the nipples 32 HP:0006709
49 webbed neck 32 HP:0000465
50 hyperconvex fingernails 32 HP:0001812

UMLS symptoms related to Wolf-Hirschhorn Syndrome:


seizures

MGI Mouse Phenotypes related to Wolf-Hirschhorn Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 CPLX1 FGFR3 FGFRL1 LETM1 MSX1 NSD3
2 growth/size/body region MP:0005378 9.56 WFS1 CPLX1 CTBP1 FGFR3 FGFRL1 LETM1
3 craniofacial MP:0005382 9.55 FGFR3 FGFRL1 LETM1 MSX1 NSD2
4 mortality/aging MP:0010768 9.28 CPLX1 CTBP1 FGFR3 FGFRL1 LETM1 MSX1

Drugs & Therapeutics for Wolf-Hirschhorn Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Wolf-Hirschhorn Syndrome

Cochrane evidence based reviews: wolf-hirschhorn syndrome

Genetic Tests for Wolf-Hirschhorn Syndrome

Genetic tests related to Wolf-Hirschhorn Syndrome:

id Genetic test Affiliating Genes
1 Wolf-Hirschhorn Syndrome 24
2 Pitt-Rogers-Danks Syndrome 24

Anatomical Context for Wolf-Hirschhorn Syndrome

MalaCards organs/tissues related to Wolf-Hirschhorn Syndrome:

39
Heart, Brain, Eye, Lung, Spleen, Skin, Uterus

Publications for Wolf-Hirschhorn Syndrome

Articles related to Wolf-Hirschhorn Syndrome:

(show top 50) (show all 232)
id Title Authors Year
1
Neuroblastoma in a Child With Wolf-Hirschhorn Syndrome. ( 28085742 )
2017
2
Excellent response to levetiracetam in epilepsy with Wolf-Hirschhorn syndrome. ( 26590026 )
2016
3
Detection of recurrent 4p16.3 microdeletion with 2p25.3 microduplication by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in a fetus from a family with Wolf-Hirschhorn syndrome. ( 26927259 )
2016
4
EP10.23: Application of 3D ultrasonography in analysis of fetal anomalies in Wolf-Hirschhorn syndrome. ( 27645370 )
2016
5
Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome. ( 26747863 )
2016
6
Wolf-Hirschhorn Syndrome with Epibulbar Dermoid: An Unusual Association in a Patient with 4p Deletion and Functional Xp Disomy. ( 27842301 )
2016
7
Early Postnatal Seizures in a Neonate with Wolf-Hirschhorn Syndrome. ( 27994945 )
2016
8
Airway Management in a Patient with Wolf-Hirschhorn Syndrome. ( 27752382 )
2016
9
Exploring the developmental mechanisms underlying Wolf-Hirschhorn Syndrome: Evidence for defects in neural crest cell migration. ( 27777068 )
2016
10
Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization. ( 26960370 )
2016
11
Single port laparoscopic splenectomy for wandering spleen with splenomegaly in a patient with Wolf-Hirschhorn syndrome. ( 28000649 )
2016
12
Successful treatment of migrating partial seizures in Wolf-Hirschhorn syndrome with bromide. ( 26797656 )
2016
13
Severe short stature and Wolf-Hirschhorn syndrome: response to growth hormone in two cases without growth hormone deficiency. ( 25988083 )
2015
14
Atypical Varicella in a Patient With Wolf-Hirschhorn Syndrome. ( 25673626 )
2015
15
Wolf-Hirschhorn syndrome: A review and update. ( 26239400 )
2015
16
Auditory hair cell defects as potential cause for sensorineural deafness in Wolf-Hirschhorn syndrome. ( 26092122 )
2015
17
Uncommon oral cleft in wolf-hirschhorn syndrome. ( 25831115 )
2015
18
Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4. ( 25057292 )
2014
19
Wolf-Hirschhorn syndrome: a case study and disease overview. ( 25137600 )
2014
20
A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf-Hirschhorn syndrome. ( 25251057 )
2014
21
Clinical features in adult patient with Wolf-Hirschhorn syndrome. ( 24656633 )
2014
22
A rare subtelomeric deletion syndrome: Wolf Hirschhorn syndrome. ( 25365852 )
2014
23
Wolf-Hirschhorn syndrome: a case with normal karyotype, demonstrated by array CGH (aCGH). ( 25204484 )
2014
24
Extensive Mongolian spots in 4p16.3 deletion (Wolf-Hirschhorn syndrome). ( 24859493 )
2014
25
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder. ( 24738919 )
2014
26
Wolf-Hirschhorn syndrome (WHS) - literature review on the features of the syndrome. ( 24979523 )
2014
27
Phenotypic variations in wolf-hirschhorn syndrome. ( 25741211 )
2014
28
LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition. ( 24626991 )
2014
29
Affinity for music in Wolf-Hirschhorn syndrome: two case reports. ( 25266617 )
2014
30
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. ( 24243641 )
2014
31
Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis. ( 23706772 )
2013
32
109a88kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome. ( 23637096 )
2013
33
The histone methyltransferase Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1) is involved in human carcinogenesis. ( 23011637 )
2013
34
Inflammatory myofibroblastic bladder tumor in a patient with wolf-hirschhorn syndrome. ( 24024066 )
2013
35
Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome. ( 24357569 )
2013
36
Microarray analysis of unbalanced translocation in Wolf-Hirschhorn syndrome. ( 23782367 )
2013
37
Pediatric diagnosis not made until adulthood: a case of Wolf-Hirschhorn syndrome. ( 23064045 )
2013
38
Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn syndrome. ( 23963300 )
2013
39
A case of wolf-hirschhorn syndrome and hypoplastic left heart syndrome. ( 22639003 )
2013
40
Diagnosis of familial Wolf-Hirschhorn syndrome due to a paternal cryptic chromosomal rearrangement by conventional and molecular cytogenetic techniques. ( 23484094 )
2013
41
Two cases of hepatic adenomas in patients with Wolf-Hirschhorn syndrome: a new rare complication? ( 23696331 )
2013
42
Prenatal diagnosis of Wolf-Hirschhorn syndrome: ultrasonography and genetics. ( 23398546 )
2013
43
Lung tumor-associated dendritic cell-derived resistin promoted cancer progression by increasing Wolf-Hirschhorn syndrome candidate 1/Twist pathway. ( 23955539 )
2013
44
Letm1, the mitochondrial Ca2+/H+ antiporter, is essential for normal glucose metabolism and alters brain function in Wolf-Hirschhorn syndrome. ( 23716663 )
2013
45
Wolf-Hirschhorn syndrome: a historical note and comment on an older adult. ( 24326957 )
2013
46
Prenatal ultrasound findings observed in the Wolf-hirschhorn syndrome: Data from the registry of congenital malformations in auvergne. ( 24343879 )
2013
47
Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports. ( 23227376 )
2012
48
Interstitial microduplication 12q13.2-q13.3 in a patient with dysmorphism, developmental delay, atypical seizures and hypospadias: not a phenocopy of Wolf-Hirschhorn syndrome. ( 22772582 )
2012
49
Wolf-Hirschhorn syndrome: A case demonstrated by a cytogenetic study. ( 22754235 )
2012
50
Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome. ( 22328085 )
2012

Variations for Wolf-Hirschhorn Syndrome

Copy number variations for Wolf-Hirschhorn Syndrome from CNVD:

7 (show all 14)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 179944 4 1 3100000 Copy number Wolf-Hirschhorn syndrome
2 179946 4 1 3100000 Copy number LETM1 Wolf-Hirschhorn syndrome
3 179948 4 1 3100000 Copy number WHSC1 Wolf-Hirschhorn syndrome
4 179949 4 1 3100000 Copy number WHSC1 Wolf-Hirschhorn syndrome
5 179955 4 1 3100000 Microdeletion Wolf-Hirschhorn syndrome
6 179956 4 1 3100000 Microdeletion FGFR3 Wolf-Hirschhorn syndrome
7 179966 4 1 4500000 Deletion WHCR Wolf-Hirschhorn syndrome
8 185923 4 2567812 2704100 Microdeletion FAM193A Wolf-Hirschhorn syndrome
9 186013 4 2713184 2727859 Microdeletion TNIP2 Wolf-Hirschhorn syndrome
10 186039 4 2764547 2812621 Microdeletion SH3BP2 Wolf-Hirschhorn syndrome
11 186069 4 2815381 2901587 Microdeletion ADD1 Wolf-Hirschhorn syndrome
12 186114 4 2902092 2906359 Microdeletion MFSD10 Wolf-Hirschhorn syndrome
13 186117 4 2909461 2934916 Microdeletion NOP14 Wolf-Hirschhorn syndrome
14 186132 4 2935140 3012272 Microdeletion GRK4 Wolf-Hirschhorn syndrome

Expression for Wolf-Hirschhorn Syndrome

Search GEO for disease gene expression data for Wolf-Hirschhorn Syndrome.

Pathways for Wolf-Hirschhorn Syndrome

Pathways related to Wolf-Hirschhorn Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.64 CPLX1 MSX1 WFS1
2 10.39 NSD2 NSD3

GO Terms for Wolf-Hirschhorn Syndrome

Biological processes related to Wolf-Hirschhorn Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.26 CTBP1 MSX1 NSD2 WFS1
2 bone morphogenesis GO:0060349 8.62 FGFR3 MSX1

Molecular functions related to Wolf-Hirschhorn Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 histone-lysine N-methyltransferase activity GO:0018024 9.16 NSD2 NSD3
2 fibroblast growth factor binding GO:0017134 8.96 FGFR3 FGFRL1
3 fibroblast growth factor-activated receptor activity GO:0005007 8.62 FGFR3 FGFRL1

Sources for Wolf-Hirschhorn 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
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