WHS
MCID: WLF002
MIFTS: 56

Wolf-Hirschhorn Syndrome (WHS)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Wolf-Hirschhorn Syndrome

MalaCards integrated aliases for Wolf-Hirschhorn Syndrome:

Name: Wolf-Hirschhorn Syndrome 56 12 74 52 25 58 13 43 15 39 39 71
Pitt-Rogers-Danks Syndrome 56 12 74 52 71
4p Deletion Syndrome 12 25 36
Wittwer Syndrome 56 52 71
4p- Syndrome 52 25 58
Whs 56 52 25
Chromosome 4p16.3 Deletion Syndrome 56 12
4p Partial Monosomy Syndrome 29 6
Telomeric Deletion 4p 52 58
Distal Deletion 4p 52 58
Distal Monosomy 4p 52 58
Pitt Syndrome 56 12
Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation 52
Pitt-Rogers-Danks Syndrome; Prds 56
Chromosome 4p Deletion Syndrome 25
Chromosome 4 Short Arm Deletion 71
Chromosome 4p Syndrome 52
Chromosome 4p Monosomy 25
Partial Monosomy 4p 25
Del Syndrome 25
Wolf Syndrome 52
Monosomy 4p 25
4p Syndrome 52
Prds 56

Characteristics:

Orphanet epidemiological data:

58
wolf-hirschhorn syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: adult;

OMIM:

56
Inheritance:
isolated cases

Miscellaneous:
contiguous gene deletion syndrome
sex ratio 2 females to 1 male
de novo deletions in 87% of patients (preferentially paternally derived)
13% of cases secondary to familial translocation (often maternally derived)
size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions
fish can be used to detect deletions of 4p16.3, the critical region for the phenotype
approximately 35% of patients die during the first 2 years of life
the frequency is estimated at 1/20,000 to 1/50,000 births


HPO:

31
wolf-hirschhorn syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


Summaries for Wolf-Hirschhorn Syndrome

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. Almost everyone with this disorder has distinctive facial features, including a broad, flat nasal bridge and a high forehead. This combination is described as a "Greek warrior helmet" appearance. The eyes are widely spaced and may be protruding. Other characteristic facial features include a shortened distance between the nose and upper lip (a short philtrum), a downturned mouth, a small chin (micrognathia), and poorly formed ears with small holes (pits) or flaps of skin (tags). Additionally, affected individuals may have asymmetrical facial features and an unusually small head (microcephaly). People with Wolf-Hirschhorn syndrome experience delayed growth and development. Slow growth begins before birth, and affected infants tend to have problems feeding and gaining weight (failure to thrive). They also have weak muscle tone (hypotonia) and underdeveloped muscles. Motor skills such as sitting, standing, and walking are significantly delayed. Most children and adults with this disorder also have short stature. Intellectual disability ranges from mild to severe in people with Wolf-Hirschhorn syndrome. Compared to people with other forms of intellectual disability, their socialization skills are strong, while verbal communication and language skills tend to be weaker. Most affected children also have seizures, which may be resistant to treatment. Seizures tend to disappear with age. Additional features of Wolf-Hirschhorn syndrome include skin changes such as mottled or dry skin, skeletal abnormalities such as abnormal curvature of the spine (scoliosis and kyphosis), dental problems including missing teeth, and an opening in the roof of the mouth (cleft palate) and/or in the lip (cleft lip). Wolf-Hirschhorn syndrome can also cause abnormalities of the eyes, heart, genitourinary tract, and brain. A condition called Pitt-Rogers-Danks syndrome has features that overlap with those of Wolf-Hirschhorn syndrome. Researchers now recognize that these two conditions are actually part of a single syndrome with variable signs and symptoms.

MalaCards based summary : Wolf-Hirschhorn Syndrome, also known as pitt-rogers-danks syndrome, is related to chromosomal deletion syndrome and chromosome 4p deletion, and has symptoms including seizures An important gene associated with Wolf-Hirschhorn Syndrome is NSD2 (Nuclear Receptor Binding SET Domain Protein 2), and among its related pathways/superpathways is PKMTs methylate histone lysines. Affiliated tissues include heart, brain and eye, and related phenotypes are hypertelorism and frontal bossing

Disease Ontology : 12 A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has material basis in a microdeletion of the short arm of chromosome 4.

NIH Rare Diseases : 52 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.

OMIM : 56 Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008). (194190)

KEGG : 36 4p deletion syndrome, also known as Wolf-Hirschhorn syndrome (WHS), is a congenital disorder associated with various deformities. WHS is caused by deletion of the WHS critical resion (WHSCR) of chromosome 4p16.3. Because WHS is a contiguous gene deletion syndrome, loss of one copy of a single gene or the synergistic effects of loss of two or more genes could give rise to the features of WHS. The "Greek warrior helmet appearance" is the most characteristic feature and refers to the facial view with prominent glabella, high arched eyebrow, broad nasal bridge and hypertelorism. Developmental delay and intellectual disability of variable degree is present in all. Seizures occur in 90% to 100% of children. Other findings include skeletal anomalies, congenital heart defects, hearing loss, urinary tract malformations, and structural brain abnormalities. Incidence is estimated to be about 1:50.000 births with a 2:1 female: male ratio.

Wikipedia : 74 Wolf-Hirschhorn syndrome (WHS), is a chromosomal deletion syndrome resulting from a partial deletion... more...

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 242)
# Related Disease Score Top Affiliating Genes
1 chromosomal deletion syndrome 30.9 NSD2 NELFA LETM1 H2AC18
2 chromosome 4p deletion 12.1
3 oligomeganephronia 11.9
4 wieacker-wolff syndrome 11.8
5 aplasia cutis congenita, nonsyndromic 11.6
6 woolly hair, autosomal dominant 11.5
7 hypotrichosis 8 11.4
8 hypotrichosis 7 11.4
9 retinal dysplasia, primary 11.4
10 familial woolly hair syndrome 11.3
11 blood group, chido/rodgers system 11.2
12 chromosome 3pter-p25 deletion syndrome 11.0
13 distal chromosome 18q deletion syndrome 11.0
14 proximal chromosome 18q deletion syndrome 11.0
15 3p deletion syndrome 11.0
16 microcephaly 10.9
17 hypotonia 10.8
18 cleft lip 10.8
19 alacrima, achalasia, and mental retardation syndrome 10.7
20 hypertelorism 10.7
21 chromosomal triplication 10.7
22 seizure disorder 10.7
23 cleft lip/palate 10.7
24 visual epilepsy 10.7
25 partial deletion of the short arm of chromosome 4 10.7
26 status epilepticus 10.6
27 cleft palate, isolated 10.6
28 hypospadias 10.6
29 telecanthus 10.6
30 3-methylglutaconic aciduria, type iii 10.6
31 acid-labile subunit deficiency 10.6
32 atrial heart septal defect 10.6
33 overgrowth syndrome 10.6
34 aphasia 10.5
35 coloboma of macula 10.5
36 radioulnar synostosis 10.5 SALL4 FGFRL1 FGFR3
37 renal hypoplasia 10.5
38 oligohydramnios 10.5
39 heart septal defect 10.5
40 epilepsy 10.5
41 malignant hyperthermia 10.5
42 sotos syndrome 1 10.5 NSD3 NSD2 H2AC18
43 blood protein disease 10.5 NSD2 H2AC18 FGFR3
44 weaver syndrome 10.5 NSD3 NSD2 H2AC18
45 diaphragmatic hernia, congenital 10.4
46 branchiootic syndrome 1 10.4
47 tooth agenesis 10.4
48 ventricular septal defect 10.4
49 chromosome 4p duplication 10.4
50 chromosomal disease 10.4 NSD2 LETM1 H2AC18

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



Diseases related to Wolf-Hirschhorn Syndrome

Symptoms & Phenotypes for Wolf-Hirschhorn Syndrome

Human phenotypes related to Wolf-Hirschhorn Syndrome:

58 31 (show top 50) (show all 130)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 frequent (33%) Very frequent (99-80%) HP:0000316
2 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
3 seizures 58 31 frequent (33%) Very frequent (99-80%) HP:0001250
4 failure to thrive 58 31 frequent (33%) Very frequent (99-80%) HP:0001508
5 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
6 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
7 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
8 wide nasal bridge 58 31 frequent (33%) Very frequent (99-80%) HP:0000431
9 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
10 micrognathia 58 31 frequent (33%) Very frequent (99-80%) HP:0000347
11 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
12 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
13 microcephaly 58 31 frequent (33%) Very frequent (99-80%) HP:0000252
14 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
15 dolichocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000268
16 short philtrum 58 31 frequent (33%) Very frequent (99-80%) HP:0000322
17 highly arched eyebrow 58 31 frequent (33%) Very frequent (99-80%) HP:0002553
18 epicanthus 58 31 frequent (33%) Very frequent (99-80%) HP:0000286
19 low posterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0002162
20 hypospadias 58 31 very rare (1%) Very frequent (99-80%) HP:0000047
21 downturned corners of mouth 58 31 frequent (33%) Very frequent (99-80%) HP:0002714
22 high forehead 58 31 frequent (33%) Very frequent (99-80%) HP:0000348
23 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
24 decreased fetal movement 58 31 hallmark (90%) Very frequent (99-80%) HP:0001558
25 hypodontia 58 31 frequent (33%) Very frequent (99-80%) HP:0000668
26 high anterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0009890
27 decreased muscle mass 31 hallmark (90%) HP:0003199
28 generalized hypotonia 31 hallmark (90%) HP:0001290
29 small for gestational age 31 hallmark (90%) HP:0001518
30 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
31 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
32 nystagmus 58 31 frequent (33%) Occasional (29-5%) HP:0000639
33 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
34 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
35 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
36 cryptorchidism 58 31 very rare (1%) Frequent (79-30%) HP:0000028
37 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
38 sacral dimple 58 31 occasional (7.5%) Frequent (79-30%) HP:0000960
39 abnormal heart valve morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001654
40 strabismus 58 31 frequent (33%) Occasional (29-5%) HP:0000486
41 abnormal form of the vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003312
42 atrial septal defect 58 31 very rare (1%) Frequent (79-30%) HP:0001631
43 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
44 proptosis 58 31 frequent (33%) Occasional (29-5%) HP:0000520
45 abnormality of the kidney 58 31 frequent (33%) Frequent (79-30%) HP:0000077
46 iris coloboma 58 31 very rare (1%) Frequent (79-30%) HP:0000612
47 cleft upper lip 58 31 frequent (33%) Frequent (79-30%) HP:0000204
48 arachnodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001166
49 split hand 58 31 occasional (7.5%) Frequent (79-30%) HP:0001171
50 congenital diaphragmatic hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000776

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
ptosis
nystagmus
strabismus
iris coloboma
more
Growth Other:
failure to thrive
marked intrauterine growth retardation

Endocrine Features:
precocious puberty

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
ventricular septal defect
atrial septal defect

Abdomen Gastrointestinal:
gastroesophageal reflux
malrotation of small bowel

Skin Nails Hair Skin:
sacral dimple
transverse palmar creases
posterior midline scalp defects

Head And Neck Neck:
webbed neck

Skin Nails Hair Nails:
hyperconvex fingernails

Genitourinary External Genitalia Male:
hypospadias

Skeletal Limbs:
radioulnar synostosis
thin limbs

Head And Neck Ears:
hearing loss
preauricular tags
preauricular pits
narrow external auditory canals

Chest Ribs Sternum Clavicles And Scapulae:
fused ribs
sternal ossification center abnormalities

Skeletal Hands:
transverse palmar creases
accessory proximal metacarpal ossification centers

Abdomen Biliary Tract:
absence of gallbladder

Laboratory Abnormalities:
hemizygous deletion at 4p16.3

Neurologic Central Nervous System:
seizures
hydrocephalus
absent septum pellucidum
cavum septum pellucidum
periventricular cysts
more
Skeletal Spine:
scoliosis
kyphosis
sacral dimple
fused vertebrae
sacral sinus
more
Head And Neck Nose:
wide nasal bridge
beaked nose

Head And Neck Face:
micrognathia
short philtrum
high forehead
prominent glabella

Head And Neck Head:
microcephaly
cranial asymmetry
posterior midline scalp defects

Head And Neck Mouth:
cleft palate
downturned corners of mouth
cleft lip
short upper lip

Skeletal Feet:
metatarsus adductus
talipes equinovarus
polydactyly

Skin Nails Hair Hair:
low posterior hairline
high-arched eyebrows
sparse medial eyebrows

Skeletal Pelvis:
hip dislocation
absence of pubic rami

Head And Neck Teeth:
hypodontia

Abdomen Spleen:
accessory spleen

Skeletal:
delayed bone age

Growth Weight:
low birth weight

Prenatal Manifestations Movement:
decreased fetal activity

Genitourinary Internal Genitalia Female:
absent uterus

Clinical features from OMIM:

194190

UMLS symptoms related to Wolf-Hirschhorn Syndrome:


seizures

MGI Mouse Phenotypes related to Wolf-Hirschhorn Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.17 FGFR3 FGFRL1 LETM1 MSX1 NSD2 NSD3

Drugs & Therapeutics for Wolf-Hirschhorn Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Clinical Study of the Ultrasound Renal Denervation System in Patients With Resistant Hypertension Recruiting NCT02918305 Phase 3
2 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
3 Addressing Challenges in Scaling up TB and HIV Treatment Integration in Public Health Settings in South Africa Active, not recruiting NCT02654613

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:

# Genetic test Affiliating Genes
1 4p Partial Monosomy Syndrome 29 CPLX1 FGFRL1 LETM1 NSD2

Anatomical Context for Wolf-Hirschhorn Syndrome

MalaCards organs/tissues related to Wolf-Hirschhorn Syndrome:

40
Heart, Brain, Eye, Skin, Bone, Spleen, Kidney

Publications for Wolf-Hirschhorn Syndrome

Articles related to Wolf-Hirschhorn Syndrome:

(show top 50) (show all 484)
# Title Authors PMID Year
1
A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf-Hirschhorn syndrome. 61 56
25251057 2014
2
Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome. 61 56
22328085 2012
3
A Drosophila mutant of LETM1, a candidate gene for seizures in Wolf-Hirschhorn syndrome. 61 56
20026556 2010
4
Tethered cord, corpus callosum abnormalities, and periventricular cysts in Wolf-Hirschhorn syndrome. Report of two cases and review of the literature. 61 56
19764025 2009
5
A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome. 61 56
19483677 2009
6
Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision. 61 56
18932224 2008
7
Seizure frequency in adults with Wolf-Hirschhorn syndrome. 61 56
18792972 2008
8
Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH). 61 56
17873117 2008
9
The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case. 61 56
15948183 2005
10
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map. 61 56
15342700 2004
11
MSX1 gene is deleted in Wolf-Hirschhorn syndrome patients with oligodontia. 61 56
14630905 2003
12
Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. 61 56
12563561 2003
13
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. 61 56
12058347 2002
14
Wolf-Hirschhorn Syndrome 61 6
20301362 2002
15
An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality. 61 56
11584045 2001
16
Mouse models for the Wolf-Hirschhorn deletion syndrome. 61 56
11152656 2001
17
Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS). 61 56
11183188 2000
18
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. 61 56
10995514 2000
19
Natural history of Wolf-Hirschhorn syndrome: experience with 15 cases. 61 56
10103318 1999
20
Wolf-Hirschhorn and Pitt-Rogers-Danks syndromes caused by overlapping 4p deletions. 61 56
9482639 1998
21
Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks syndrome. 61 56
9489803 1998
22
Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome. 61 56
9321756 1997
23
Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3. 61 56
9222965 1997
24
A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. 61 56
9063753 1997
25
Pitt-Rogers-Danks syndrome: the result of a 4p microdeletion. 61 56
8957524 1996
26
Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome. 61 56
8957525 1996
27
Cytogenetic abnormalities in two new patients with Pitt-Rogers-Danks phenotype. 61 56
8957526 1996
28
From Pitt-Rogers-Danks syndrome to Wolf-Hirschhorn syndrome and back? 61 56
8957527 1996
29
Pitt-Rogers-Danks syndrome: further delineation. 61 56
7762580 1995
30
The Wolf-Hirschhorn syndrome in fetuses. 61 56
1493641 1992
31
A molecular deletion of distal chromosome 4p in two families with a satellited chromosome 4 lacking the Wolf-Hirschhorn syndrome phenotype. 61 56
1384329 1992
32
Clinical, cytogenetic and molecular investigations in three patients with Wolf-Hirschhorn syndrome. 61 56
1424245 1992
33
Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome. 61 56
1379774 1992
34
A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation. 61 56
1640422 1992
35
Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. 61 56
1746553 1991
36
Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome. 61 56
1856831 1991
37
Molecular analysis of 4p deletion associated with Wolf-Hirschhorn syndrome moving the "critical segment" towards the telomere. 61 56
2016087 1991
38
A girl with the Pitt-Rogers-Danks syndrome. 61 56
2705474 1989
39
Wolf-Hirschhorn locus is distal to D4S10 on short arm of chromosome 4. 61 56
3612716 1987
40
A further patient with the Pitt-Rogers-Danks syndrome of mental retardation, unusual face, and intrauterine growth retardation. 61 56
3706410 1986
41
Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome. 61 56
2997623 1985
42
The Wolf-Hirschhorn syndrome. I. Genetics. 61 56
7398109 1980
43
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. 6
25782669 2015
44
Further delineation of Wittwer syndrome and refinement of the mapping region. 56
12476452 2003
45
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. 56
11231899 2001
46
Alu-mediated PCR artifacts and the constitutional t(11;22) breakpoint. 56
11063731 2000
47
11Q duplication in a patient with Pitt-Rogers-Danks phenotype. 56
8957528 1996
48
New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3. 56
8826447 1996
49
Mental retardation, unusual face, and intrauterine growth retardation: a new recessive syndrome? 56
6542309 1984
50
[Deficiency on the short arms of a chromosome No. 4]. 56
5868696 1965

Variations for Wolf-Hirschhorn Syndrome

ClinVar genetic disease variations for Wolf-Hirschhorn Syndrome:

6 (show top 50) (show all 118) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NSD2 NM_133330.2(NSD2):c.1676_1679delshort repeat Pathogenic 547999 rs1553873247 4:1940176-1940179 4:1938449-1938452
2 subset of 92 genes: MSX1 GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411)copy number loss Pathogenic 625664 4:75742-8672411
3 covers 18 genes, none of which curated to show dosage sensitivity GRCh37/hg19 4p16.3(chr4:1305802-2460571)copy number loss Pathogenic 625700 4:1305802-2460571
4 ADGRA3 , DHX15 , GBA3 , KCNIP4 , PACRGL , PPARGC1A , SLIT2 GRCh37/hg19 4p15.31-15.2(chr4:19186845-24548281)copy number loss Pathogenic 625782 4:19186845-24548281
5 NSD2 NM_001042424.3(NSD2):c.576C>T (p.Ile192=)SNV Conflicting interpretations of pathogenicity 348427 rs138137147 4:1902957-1902957 4:1901230-1901230
6 NSD2 NM_001042424.3(NSD2):c.1675-10T>ASNV Conflicting interpretations of pathogenicity 348436 rs886059317 4:1940168-1940168 4:1938441-1938441
7 NSD2 NM_001042424.3(NSD2):c.546C>A (p.Gly182=)SNV Conflicting interpretations of pathogenicity 348425 rs766214080 4:1902927-1902927 4:1901200-1901200
8 NSD2 NM_001042424.3(NSD2):c.562C>G (p.Leu188Val)SNV Uncertain significance 348426 rs886059315 4:1902943-1902943 4:1901216-1901216
9 NSD2 NM_001042424.3(NSD2):c.-29-7740T>ASNV Uncertain significance 348401 rs566943306 4:1894613-1894613 4:1892886-1892886
10 NSD2 NM_001042424.3(NSD2):c.-29-1386G>ASNV Uncertain significance 348409 rs886059312 4:1900967-1900967 4:1899240-1899240
11 NSD2 NM_001042424.3(NSD2):c.-29-1367C>ASNV Uncertain significance 348410 rs372789667 4:1900986-1900986 4:1899259-1899259
12 NSD2 NM_001042424.3(NSD2):c.-29-1263T>CSNV Uncertain significance 348413 rs774930051 4:1901090-1901090 4:1899363-1899363
13 NSD2 NM_001042424.3(NSD2):c.-29-1245C>TSNV Uncertain significance 348415 rs886059313 4:1901108-1901108 4:1899381-1899381
14 NSD2 NM_001042424.3(NSD2):c.2831G>A (p.Arg944Gln)SNV Uncertain significance 348442 rs756624618 4:1957865-1957865 4:1956138-1956138
15 NSD2 NM_001042424.3(NSD2):c.*1458G>CSNV Uncertain significance 348475 rs886059326 4:1982094-1982094 4:1980367-1980367
16 NSD2 NM_001042424.3(NSD2):c.*1468G>CSNV Uncertain significance 348476 rs886059327 4:1982104-1982104 4:1980377-1980377
17 NSD2 NM_001042424.3(NSD2):c.*1922dupduplication Uncertain significance 348485 rs886059331 4:1982557-1982558 4:1980830-1980831
18 NSD2 NM_001042424.3(NSD2):c.*1850G>ASNV Uncertain significance 348484 rs765387218 4:1982486-1982486 4:1980759-1980759
19 NSD2 NM_001042424.3(NSD2):c.3486C>T (p.Gly1162=)SNV Uncertain significance 348445 rs886059319 4:1976703-1976703 4:1974976-1974976
20 NSD2 NM_001042424.3(NSD2):c.*731G>ASNV Uncertain significance 348465 rs886059322 4:1981367-1981367 4:1979640-1979640
21 NSD2 NM_001042424.3(NSD2):c.*1370dupduplication Uncertain significance 348474 rs886059325 4:1981999-1982000 4:1980272-1980273
22 NSD2 NM_001042424.3(NSD2):c.*1942T>CSNV Uncertain significance 348486 rs780819245 4:1982578-1982578 4:1980851-1980851
23 NSD2 NM_001042424.3(NSD2):c.*2003T>GSNV Uncertain significance 348487 rs886059332 4:1982639-1982639 4:1980912-1980912
24 NSD2 NM_001042424.3(NSD2):c.*2012dupduplication Uncertain significance 348488 rs766138833 4:1982645-1982646 4:1980918-1980919
25 NSD2 NM_001042424.3(NSD2):c.*2414G>ASNV Uncertain significance 348495 rs886059334 4:1983050-1983050 4:1981323-1981323
26 NSD2 NM_001042424.3(NSD2):c.-29-6901dupduplication Uncertain significance 348402 rs886059308 4:1895445-1895446 4:1893718-1893719
27 NSD2 NM_001042424.3(NSD2):c.199G>A (p.Gly67Ser)SNV Uncertain significance 348420 rs202235551 4:1902580-1902580 4:1900853-1900853
28 NSD2 NM_001042424.3(NSD2):c.456T>G (p.Ser152=)SNV Uncertain significance 348424 rs886059314 4:1902837-1902837 4:1901110-1901110
29 NSD2 NM_001042424.3(NSD2):c.114C>T (p.Cys38=)SNV Uncertain significance 348418 rs759922625 4:1902495-1902495 4:1900768-1900768
30 NSD2 NM_001042424.3(NSD2):c.3126C>T (p.His1042=)SNV Uncertain significance 348443 rs886059318 4:1961338-1961338 4:1959611-1959611
31 NSD2 NM_001042424.3(NSD2):c.*986G>ASNV Uncertain significance 348469 rs886059324 4:1981622-1981622 4:1979895-1979895
32 NSD2 NM_001042424.3(NSD2):c.*661G>ASNV Uncertain significance 348463 rs767998808 4:1981297-1981297 4:1979570-1979570
33 NSD2 NM_001042424.3(NSD2):c.*745T>CSNV Uncertain significance 348466 rs886059323 4:1981381-1981381 4:1979654-1979654
34 NSD2 NM_001042424.3(NSD2):c.*1665C>TSNV Uncertain significance 348478 rs539743018 4:1982301-1982301 4:1980574-1980574
35 NSD2 NM_001042424.3(NSD2):c.*1686C>TSNV Uncertain significance 348479 rs74372602 4:1982322-1982322 4:1980595-1980595
36 NSD2 NM_001042424.3(NSD2):c.*2423G>ASNV Uncertain significance 348496 rs886059335 4:1983059-1983059 4:1981332-1981332
37 NSD2 NM_001042424.3(NSD2):c.-29-7784C>GSNV Uncertain significance 348399 rs886059306 4:1894569-1894569 4:1892842-1892842
38 NSD2 NM_001042424.3(NSD2):c.-29-7752A>CSNV Uncertain significance 348400 rs886059307 4:1894601-1894601 4:1892874-1892874
39 NSD2 NM_001042424.3(NSD2):c.1881+9A>TSNV Uncertain significance 348437 rs767417151 4:1941514-1941514 4:1939787-1939787
40 NSD2 NM_001042424.3(NSD2):c.1902C>T (p.Asp634=)SNV Uncertain significance 348438 rs746926553 4:1952819-1952819 4:1951092-1951092
41 NSD2 NM_001042424.3(NSD2):c.2414T>C (p.Val805Ala)SNV Uncertain significance 348440 rs144335923 4:1956963-1956963 4:1955236-1955236
42 NSD2 NM_001042424.3(NSD2):c.927+15T>CSNV Uncertain significance 348429 rs886059316 4:1918779-1918779 4:1917052-1917052
43 NSD2 NM_001042424.3(NSD2):c.940A>G (p.Ile314Val)SNV Uncertain significance 348430 rs371529672 4:1919880-1919880 4:1918153-1918153
44 NSD2 NM_001042424.3(NSD2):c.1653G>A (p.Thr551=)SNV Uncertain significance 348435 rs141132577 4:1936968-1936968 4:1935241-1935241
45 NSD2 NM_001042424.3(NSD2):c.*2847T>GSNV Uncertain significance 348504 rs886059338 4:1983483-1983483 4:1981756-1981756
46 NSD2 NM_001042424.3(NSD2):c.-29-6860A>TSNV Uncertain significance 348405 rs886059310 4:1895493-1895493 4:1893766-1893766
47 NSD2 NM_001042424.3(NSD2):c.-29-6792T>GSNV Uncertain significance 348406 rs886059311 4:1895561-1895561 4:1893834-1893834
48 NSD2 NM_001042424.3(NSD2):c.-29-6730T>GSNV Uncertain significance 348407 rs544091833 4:1895623-1895623 4:1893896-1893896
49 NSD2 NM_001042424.3(NSD2):c.-29-6899C>TSNV Uncertain significance 348403 rs886059309 4:1895454-1895454 4:1893727-1893727
50 NSD2 NM_001042424.3(NSD2):c.11G>A (p.Ser4Asn)SNV Uncertain significance 348417 rs753120179 4:1902392-1902392 4:1900665-1900665

Copy number variations for Wolf-Hirschhorn Syndrome from CNVD:

7 (show all 14)
# CNVD ID Chromosome 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.95 NSD3 NSD2 H3C14

GO Terms for Wolf-Hirschhorn Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 9.46 NSD3 NSD2 H3C14 H2AC18
2 fibroblast growth factor receptor signaling pathway GO:0008543 9.13 IQGAP1 FGFRL1 FGFR3
3 histone H3-K36 methylation GO:0010452 8.62 NSD3 NSD2

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

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor binding GO:0017134 9.16 FGFRL1 FGFR3
2 histone methyltransferase activity (H3-K36 specific) GO:0046975 8.96 NSD3 NSD2
3 fibroblast growth factor-activated receptor activity GO:0005007 8.62 FGFRL1 FGFR3

Sources for Wolf-Hirschhorn Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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68 SNOMED-CT via HPO
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