WHS
MCID: WLF002
MIFTS: 52

Wolf-Hirschhorn Syndrome (WHS)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Wolf-Hirschhorn Syndrome

MalaCards integrated aliases for Wolf-Hirschhorn Syndrome:

Name: Wolf-Hirschhorn Syndrome 57 11 19 42 58 75 12 43 14 71
Pitt-Rogers-Danks Syndrome 57 11 19 75 71
Chromosome 4p16.3 Deletion Syndrome 57 11 5
Wittwer Syndrome 57 19 71
4p- Syndrome 19 42 58
Whs 57 19 42
Telomeric Deletion 4p 19 58
4p Deletion Syndrome 11 42
Distal Deletion 4p 19 58
Distal Monosomy 4p 19 58
Pitt Syndrome 57 11
Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation 19
Chromosome 4p Deletion Syndrome 42
Chromosome 4 Short Arm Deletion 71
Chromosome 4p Syndrome 19
Chromosome 4p Monosomy 42
Partial Monosomy 4p 42
Del Syndrome 42
Wolf Syndrome 19
Monosomy 4p 42
4p Syndrome 19
Prds 57

Characteristics:


Inheritance:

Multigenic/multifactorial 58 , Isolated cases 57

Prevelance:

1-9/100000 (Europe, Europe) 58

Age Of Onset:

Antenatal,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:

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


Summaries for Wolf-Hirschhorn Syndrome

MedlinePlus Genetics: 42 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 chromosome 4p deletion and cleft palate, isolated, 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 eye, heart and skin, and related phenotypes are seizure and failure to thrive

GARD: 19 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.

OMIM®: 57 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) (Updated 08-Dec-2022)

Orphanet: 58 A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.

Disease Ontology: 11 A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has material basis in a hemizygous deletion of chromosome 4p16.3.

Wikipedia: 75 Wolf-Hirschhorn syndrome (WHS) is a chromosomal deletion syndrome resulting from a partial deletion on... 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 244)
# Related Disease Score Top Affiliating Genes
1 chromosome 4p deletion 33.1 NSD2 LETM1 CTBP1 CPLX1
2 cleft palate, isolated 31.2 WFS1 MSX1 H2AC18 FGFR3
3 chromosomal deletion syndrome 30.7 NSD2 NELFA LETM1 H2AC18
4 chromosomal disease 30.6 NSD2 LETM1 H2AC18
5 rauch-steindl syndrome 11.3
6 aplasia cutis congenita, nonsyndromic 11.3
7 chromosome 3p- syndrome 11.1
8 wieacker-wolff syndrome 11.1
9 chromosome 18q deletion syndrome 10.9
10 chromosome 3pter-p25 deletion syndrome 10.9
11 proximal chromosome 18q deletion syndrome 10.9
12 microcephaly 10.8
13 hypotonia 10.8
14 cleft lip 10.7
15 hypertelorism 10.7
16 cleft lip/palate 10.7
17 partial deletion of the short arm of chromosome 4 10.6
18 visual epilepsy 10.6
19 hypospadias 10.6
20 status epilepticus 10.6
21 coloboma of macula 10.5
22 diaphragmatic hernia, congenital 10.5
23 tooth agenesis 10.5
24 chromosome 4p duplication 10.5
25 heart septal defect 10.4
26 renal hypoplasia 10.4
27 oligohydramnios 10.4
28 malignant hyperthermia 10.4
29 blood protein disease 10.4 NSD2 H2AC18 FGFR3
30 weaver syndrome 10.4 NSD3 NSD2 H2AC18
31 sotos syndrome 10.4 NSD3 NSD2 H2AC18
32 epiphyseal dysplasia, multiple, 2 10.4 SLBP H2AC18
33 smoldering myeloma 10.4 NSD2 FGFR3
34 synostosis 10.4 SALL4 MSX1 FGFR3
35 corpus callosum, agenesis of 10.4
36 microphthalmia 10.4
37 enterocele 10.4
38 ventricular septal defect 10.4
39 mature teratoma 10.3 SALL4 H2AC18
40 multiple epiphyseal dysplasia due to collagen 9 anomaly 10.3 SLBP H2AC18
41 telecanthus 10.3
42 3-methylglutaconic aciduria, type iii 10.3
43 fanconi anemia, complementation group e 10.3
44 acid-labile subunit deficiency 10.3
45 overgrowth syndrome 10.3
46 testicular cancer 10.3 SALL4 H2AC18 FGFR3
47 attention deficit-hyperactivity disorder 10.3
48 down syndrome 10.3
49 glaucoma 3, primary congenital, a 10.3
50 autism spectrum disorder 10.3

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive
marked intrauterine growth retardation

Head And Neck Eyes:
ptosis
nystagmus
hypertelorism
strabismus
iris coloboma
more
Endocrine Features:
precocious puberty

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

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Neck:
webbed neck

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Skeletal Pelvis:
hip dislocation
absence of pubic rami

Head And Neck Teeth:
hypodontia

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

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

Abdomen Gastrointestinal:
gastroesophageal reflux
malrotation of small bowel

Skeletal Feet:
metatarsus adductus
talipes equinovarus
polydactyly

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

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

Skin Nails Hair Nails:
hyperconvex fingernails

Genitourinary External Genitalia Male:
hypospadias

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

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 (Updated 08-Dec-2022)

UMLS symptoms related to Wolf-Hirschhorn Syndrome:


seizures

Drugs & Therapeutics for Wolf-Hirschhorn Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
2 A Clinical Study of the Ultrasound Renal Denervation System (PRDS-001) in Patients With Hypertension Recruiting NCT05326230

Search NIH Clinical Center for Wolf-Hirschhorn Syndrome

Cochrane evidence based reviews: wolf-hirschhorn syndrome

Genetic Tests for Wolf-Hirschhorn Syndrome

Anatomical Context for Wolf-Hirschhorn Syndrome

Organs/tissues related to Wolf-Hirschhorn Syndrome:

MalaCards : Eye, Heart, Skin, Brain, Spleen, Uterus, Cerebellum

Publications for Wolf-Hirschhorn Syndrome

Articles related to Wolf-Hirschhorn Syndrome:

(show top 50) (show all 816)
# 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. 62 57
25251057 2014
2
Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome. 62 57
22328085 2012
3
A Drosophila mutant of LETM1, a candidate gene for seizures in Wolf-Hirschhorn syndrome. 62 57
20026556 2010
4
Tethered cord, corpus callosum abnormalities, and periventricular cysts in Wolf-Hirschhorn syndrome. Report of two cases and review of the literature. 62 57
19764025 2009
5
A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome. 62 57
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. 62 57
18932224 2008
7
Seizure frequency in adults with Wolf-Hirschhorn syndrome. 62 57
18792972 2008
8
Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH). 62 57
17873117 2008
9
The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case. 62 57
15948183 2005
10
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map. 62 57
15342700 2004
11
MSX1 gene is deleted in Wolf-Hirschhorn syndrome patients with oligodontia. 62 57
14630905 2003
12
Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. 62 57
12563561 2003
13
Further delineation of Wittwer syndrome and refinement of the mapping region. 62 57
12476452 2003
14
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. 62 57
12058347 2002
15
An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality. 62 57
11584045 2001
16
Mouse models for the Wolf-Hirschhorn deletion syndrome. 62 57
11152656 2001
17
Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS). 62 57
11183188 2000
18
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. 62 57
10995514 2000
19
Natural history of Wolf-Hirschhorn syndrome: experience with 15 cases. 62 57
10103318 1999
20
Wolf-Hirschhorn and Pitt-Rogers-Danks syndromes caused by overlapping 4p deletions. 62 57
9482639 1998
21
Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks syndrome. 62 57
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. 62 57
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. 62 57
9222965 1997
24
A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. 62 57
9063753 1997
25
Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome. 62 57
8957525 1996
26
From Pitt-Rogers-Danks syndrome to Wolf-Hirschhorn syndrome and back? 62 57
8957527 1996
27
Cytogenetic abnormalities in two new patients with Pitt-Rogers-Danks phenotype. 62 57
8957526 1996
28
Pitt-Rogers-Danks syndrome: the result of a 4p microdeletion. 62 57
8957524 1996
29
Pitt-Rogers-Danks syndrome: further delineation. 62 57
7762580 1995
30
The Wolf-Hirschhorn syndrome in fetuses. 62 57
1493641 1992
31
A molecular deletion of distal chromosome 4p in two families with a satellited chromosome 4 lacking the Wolf-Hirschhorn syndrome phenotype. 62 57
1384329 1992
32
Clinical, cytogenetic and molecular investigations in three patients with Wolf-Hirschhorn syndrome. 62 57
1424245 1992
33
Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome. 62 57
1379774 1992
34
A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation. 62 57
1640422 1992
35
Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. 62 57
1746553 1991
36
Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome. 62 57
1856831 1991
37
Molecular analysis of 4p deletion associated with Wolf-Hirschhorn syndrome moving the "critical segment" towards the telomere. 62 57
2016087 1991
38
A girl with the Pitt-Rogers-Danks syndrome. 62 57
2705474 1989
39
Wolf-Hirschhorn locus is distal to D4S10 on short arm of chromosome 4. 62 57
3612716 1987
40
A further patient with the Pitt-Rogers-Danks syndrome of mental retardation, unusual face, and intrauterine growth retardation. 62 57
3706410 1986
41
Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome. 62 57
2997623 1985
42
The Wolf-Hirschhorn syndrome. I. Genetics. 62 57
7398109 1980
43
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. 57
11231899 2001
44
Alu-mediated PCR artifacts and the constitutional t(11;22) breakpoint. 57
11063731 2000
45
11Q duplication in a patient with Pitt-Rogers-Danks phenotype. 57
8957528 1996
46
New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3. 57
8826447 1996
47
Mental retardation, unusual face, and intrauterine growth retardation: a new recessive syndrome? 57
6542309 1984
48
Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. 57
5895684 1965
49
[Deficiency on the short arms of a chromosome No. 4]. 57
5868696 1965
50
Difference of geographic distributions of the Chinese patients with prion diseases in the permanent resident places and referring places. 62
35638100 2022

Variations for Wolf-Hirschhorn Syndrome

ClinVar genetic disease variations for Wolf-Hirschhorn Syndrome:

5 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 92 genes GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411) CN LOSS Pathogenic
625664 GRCh37: 4:75742-8672411
GRCh38:
2 overlap with 18 genes GRCh37/hg19 4p16.3(chr4:1305802-2460571) CN LOSS Pathogenic
625700 GRCh37: 4:1305802-2460571
GRCh38:
3 overlap with 7 genes GRCh37/hg19 4p15.31-15.2(chr4:19186845-24548281) CN LOSS Pathogenic
625782 GRCh37: 4:19186845-24548281
GRCh38:
4 NSD2 NM_001042424.3(NSD2):c.708G>A (p.Trp236Ter) SNV Pathogenic
599448 rs1560602800 GRCh37: 4:1906053-1906053
GRCh38: 4:1904326-1904326
5 NSD2 NM_001042424.3(NSD2):c.1569dup (p.Lys524fs) DUP Pathogenic
599447 rs1560696317 GRCh37: 4:1936881-1936882
GRCh38: 4:1935154-1935155
6 NSD2 NM_001042424.3(NSD2):c.793C>T (p.Gln265Ter) SNV Pathogenic
599449 rs1560635105 GRCh37: 4:1918630-1918630
GRCh38: 4:1916903-1916903
7 NSD2 NM_001042424.3(NSD2):c.2887C>T (p.Gln963Ter) SNV Pathogenic
1029069 rs1725000714 GRCh37: 4:1959665-1959665
GRCh38: 4:1957938-1957938
8 NSD2 NM_001042424.3(NSD2):c.3223_3226dup (p.Gly1076fs) DUP Pathogenic
1308650 GRCh37: 4:1961431-1961432
GRCh38: 4:1959704-1959705
9 NSD2 NM_133330.2(NSD2):c.1676_1679del MICROSAT Pathogenic
547999 rs1553873247 GRCh37: 4:1940176-1940179
GRCh38: 4:1938449-1938452
10 NSD2 NM_001042424.3(NSD2):c.3353A>G (p.Tyr1118Cys) SNV Likely Pathogenic
1685386 GRCh37: 4:1962859-1962859
GRCh38: 4:1961132-1961132
11 NSD2 NM_001042424.3(NSD2):c.927G>T (p.Lys309Asn) SNV Likely Pathogenic
1709130 GRCh37: 4:1918764-1918764
GRCh38: 4:1917037-1917037
12 NSD2 NM_001042424.3(NSD2):c.4090G>A (p.Gly1364Ser) SNV Uncertain Significance
1341735 GRCh37: 4:1980628-1980628
GRCh38: 4:1978901-1978901
13 NSD2 NM_001042424.3(NSD2):c.3271G>A (p.Glu1091Lys) SNV Uncertain Significance
1065515 GRCh37: 4:1962777-1962777
GRCh38: 4:1961050-1961050
14 NSD2 NM_001042424.3(NSD2):c.2675G>A (p.Arg892Lys) SNV Uncertain Significance
1285442 GRCh37: 4:1957576-1957576
GRCh38: 4:1955849-1955849
15 LETM1 NM_012318.3(LETM1):c.1261A>T (p.Met421Leu) SNV Uncertain Significance
930379 rs1711880083 GRCh37: 4:1825442-1825442
GRCh38: 4:1823715-1823715
16 FGFRL1 NM_001004356.3(FGFRL1):c.842T>G (p.Leu281Arg) SNV Uncertain Significance
932096 rs1716385543 GRCh37: 4:1018222-1018222
GRCh38: 4:1024434-1024434
17 NSD2 NM_001042424.3(NSD2):c.-29-6901dup DUP Uncertain Significance
348402 rs886059308 GRCh37: 4:1895445-1895446
GRCh38: 4:1893718-1893719
18 NSD2 NM_001042424.3(NSD2):c.*1922dup DUP Uncertain Significance
348485 rs886059331 GRCh37: 4:1982557-1982558
GRCh38: 4:1980830-1980831
19 NSD2 NM_001042424.3(NSD2):c.*2012dup DUP Uncertain Significance
348488 rs766138833 GRCh37: 4:1982645-1982646
GRCh38: 4:1980918-1980919
20 NSD2 NM_001042424.3(NSD2):c.*1370dup DUP Uncertain Significance
348474 rs886059325 GRCh37: 4:1981999-1982000
GRCh38: 4:1980272-1980273
21 NUF2 NM_145697.3(NUF2):c.908T>C (p.Leu303Pro) SNV Uncertain Significance
1684154 GRCh37:
GRCh38: 1:163345778-163345778
22 NSD2 NM_001042424.3(NSD2):c.1902C>T (p.Asp634=) SNV Uncertain Significance
348438 rs746926553 GRCh37: 4:1952819-1952819
GRCh38: 4:1951092-1951092
23 NSD2 NM_001042424.3(NSD2):c.*339CTC[1] MICROSAT Likely Benign
348458 rs375129793 GRCh37: 4:1980975-1980977
GRCh38: 4:1979248-1979250

Copy number variations for Wolf-Hirschhorn Syndrome from CNVD:

6 (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 NSD2 Wolf-Hirschhorn syndrome
4 179949 4 1 3100000 Copy number NSD2 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
10.93 NSD3 NSD2 H3C14

GO Terms for Wolf-Hirschhorn Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 histone H3K36 methyltransferase activity GO:0046975 8.92 NSD3 NSD2

Sources for Wolf-Hirschhorn Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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