WHS
MCID: WLF002
MIFTS: 57

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 57 12 74 20 43 58 13 44 15 39 39 71
Pitt-Rogers-Danks Syndrome 57 12 74 20 71
Chromosome 4p16.3 Deletion Syndrome 57 12 6
4p Deletion Syndrome 12 43 36
Wittwer Syndrome 57 20 71
4p- Syndrome 20 43 58
Whs 57 20 43
Telomeric Deletion 4p 20 58
Distal Deletion 4p 20 58
Distal Monosomy 4p 20 58
Pitt Syndrome 57 12
Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation 20
Pitt-Rogers-Danks Syndrome; Prds 57
Chromosome 4p Deletion Syndrome 43
Chromosome 4 Short Arm Deletion 71
Chromosome 4p Syndrome 20
Chromosome 4p Monosomy 43
Partial Monosomy 4p 43
Del Syndrome 43
Wolf Syndrome 20
Monosomy 4p 43
4p Syndrome 20
Prds 57

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®:

57 (Updated 05-Mar-2021)
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

MedlinePlus Genetics : 43 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 chromosomal deletion syndrome, 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. The drugs Fentanyl and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and spleen, and related phenotypes are failure to thrive 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.

GARD : 20 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® : 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 05-Mar-2021)

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 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 183)
# Related Disease Score Top Affiliating Genes
1 chromosome 4p deletion 32.3 POLN NSD2 LETM1 FGFRL1 DHX15 CTBP1
2 chromosomal deletion syndrome 30.6 NSD2 NELFA LETM1
3 wieacker-wolff syndrome 11.3
4 oligomeganephronia 11.3
5 aplasia cutis congenita, nonsyndromic 11.3
6 chromosome 3pter-p25 deletion syndrome 11.1
7 distal chromosome 18q deletion syndrome 10.9
8 proximal chromosome 18q deletion syndrome 10.9
9 microcephaly 10.8
10 hypotonia 10.8
11 cleft lip 10.7
12 alacrima, achalasia, and mental retardation syndrome 10.7
13 hypertelorism 10.6
14 cleft lip/palate 10.6
15 chromosomal triplication 10.6
16 seizure disorder 10.6
17 partial deletion of the short arm of chromosome 4 10.6
18 status epilepticus 10.5
19 cleft palate, isolated 10.5
20 hypospadias 10.5
21 coloboma of macula 10.5
22 heart septal defect 10.4
23 tooth agenesis 10.4
24 renal hypoplasia 10.4
25 oligohydramnios 10.4
26 malignant hyperthermia 10.4
27 smoldering myeloma 10.3 NSD2 FGFR3
28 diaphragmatic hernia, congenital 10.3
29 branchiootic syndrome 1 10.3
30 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
31 microphthalmia 10.3
32 ventricular septal defect 10.3
33 chromosome 4p duplication 10.3
34 radioulnar synostosis 10.3 SALL4 FGFRL1 FGFR3
35 telecanthus 10.3
36 3-methylglutaconic aciduria, type iii 10.3
37 acid-labile subunit deficiency 10.3
38 overgrowth syndrome 10.3
39 chromosome 18q deletion syndrome 10.3 NELFA LETM1
40 epilepsy 10.3
41 cystic lymphangioma 10.3
42 exophthalmos 10.3
43 pathologic nystagmus 10.3
44 ring chromosome 10.3
45 renal dysplasia 10.3
46 hemifacial microsomia 10.2 SALL4 MSX1
47 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.2
48 huntington disease 10.2
49 jacobsen syndrome 10.2
50 otitis media 10.2

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 132)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 frequent (33%) Very frequent (99-80%) HP:0001508
2 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
3 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 hypertelorism 58 31 frequent (33%) Very frequent (99-80%) HP:0000316
6 wide nasal bridge 58 31 frequent (33%) Very frequent (99-80%) HP:0000431
7 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
8 microcephaly 58 31 frequent (33%) Very frequent (99-80%) HP:0000252
9 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
10 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
11 micrognathia 58 31 frequent (33%) Very frequent (99-80%) HP:0000347
12 low posterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0002162
13 epicanthus 58 31 frequent (33%) Very frequent (99-80%) HP:0000286
14 dolichocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000268
15 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
16 downturned corners of mouth 58 31 frequent (33%) Very frequent (99-80%) HP:0002714
17 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
18 highly arched eyebrow 58 31 frequent (33%) Very frequent (99-80%) HP:0002553
19 hypospadias 58 31 very rare (1%) Very frequent (99-80%) HP:0000047
20 short philtrum 58 31 frequent (33%) Very frequent (99-80%) HP:0000322
21 high forehead 58 31 frequent (33%) Very frequent (99-80%) HP:0000348
22 hypodontia 58 31 frequent (33%) Very frequent (99-80%) HP:0000668
23 decreased fetal movement 58 31 hallmark (90%) Very frequent (99-80%) HP:0001558
24 high anterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0009890
25 decreased muscle mass 31 hallmark (90%) HP:0003199
26 small for gestational age 31 hallmark (90%) HP:0001518
27 generalized hypotonia 31 hallmark (90%) HP:0001290
28 seizure 31 frequent (33%) HP:0001250
29 hypotonia 31 hallmark (90%) HP:0001252
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 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
37 abnormal heart valve morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001654
38 abnormal form of the vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003312
39 strabismus 58 31 frequent (33%) Occasional (29-5%) HP:0000486
40 cryptorchidism 58 31 very rare (1%) Frequent (79-30%) HP:0000028
41 atrial septal defect 58 31 very rare (1%) Frequent (79-30%) HP:0001631
42 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
43 arachnodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001166
44 iris coloboma 58 31 very rare (1%) Frequent (79-30%) HP:0000612
45 cleft upper lip 58 31 frequent (33%) Frequent (79-30%) HP:0000204
46 proptosis 58 31 frequent (33%) Occasional (29-5%) HP:0000520
47 split hand 58 31 occasional (7.5%) Frequent (79-30%) HP:0001171
48 sacral dimple 58 31 occasional (7.5%) Frequent (79-30%) HP:0000960
49 abnormality of the kidney 58 31 frequent (33%) Frequent (79-30%) HP:0000077
50 congenital diaphragmatic hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000776

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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
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

Growth Other:
failure to thrive
marked intrauterine growth retardation

Head And Neck Eyes:
ptosis
nystagmus
hypertelorism
strabismus
iris coloboma
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 05-Mar-2021)

UMLS symptoms related to Wolf-Hirschhorn Syndrome:


seizures

MGI Mouse Phenotypes related to Wolf-Hirschhorn Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.5 FGFR3 FGFRL1 LETM1 MSX1 NSD2 NSD3
2 growth/size/body region MP:0005378 9.4 CPLX1 CTBP1 FGFR3 FGFRL1 LETM1 MID2

Drugs & Therapeutics for Wolf-Hirschhorn Syndrome

Drugs for Wolf-Hirschhorn Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
2
Lidocaine Approved, Vet_approved 137-58-6 3676
3
Rocuronium Approved 119302-91-9, 143558-00-3 441290
4
Remifentanil Approved 132875-61-7 60815
5
Sevoflurane Approved, Vet_approved 28523-86-6 5206
6
Desflurane Approved 57041-67-5 42113
7
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
8 Sodium Channel Blockers
9 Diuretics, Potassium Sparing
10 Anesthetics, Local
11 Anti-Arrhythmia Agents
12 Anesthetics
13 Pharmaceutical Solutions
14 Narcotics
15 Analgesics
16 Analgesics, Opioid
17 Vaccines
18 Immunosuppressive Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Phase II Trial Evaluating the Efficacy of Systemic Mesenchymal Stromal Cell (MSC) Injections for the Treatment of Severe and Chronic Radiotherapy-induced Abdomino-pelvic Complications (Pelvic Radiation Disease, PRD) Refractory to Standard Therapy Recruiting NCT02814864 Phase 2 Mesenchymal Stromal Cell (MSC) injections
2 Pupillometry - Future of Objective Pain Reaction Measurement While Unconscious Completed NCT04000126 lidocaine;Placebo
3 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
4 Per Oral Endoscopic Myotomy (POEM) and Prolonged Dilatation (PRD) as Additional Endoscopic Treatment Options for Achalasia and Other Esophageal Motility Disorders Recruiting NCT02518542
5 Comparative Study of Influence of Total Intravenous Anaesthesia (TIVA) and Volatile Anaesthesia Using Sevoflurane or Desflurane on the Intraoperative Blood Loss During Functional Endoscopic Sinus Surgery Not yet recruiting NCT03417206 Remifentanil
6 HPV Immunisation Protecting Special Risk Group Patients From Cervical Cancer: 5 Year Follow-up Post-vaccination Terminated NCT01896986

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

MalaCards organs/tissues related to Wolf-Hirschhorn Syndrome:

40
Eye, Heart, Spleen, Kidney, Cerebellum, Uterus, Bone

Publications for Wolf-Hirschhorn Syndrome

Articles related to Wolf-Hirschhorn Syndrome:

(show top 50) (show all 505)
# 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. 57 61
25251057 2014
2
Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome. 61 57
22328085 2012
3
A Drosophila mutant of LETM1, a candidate gene for seizures in Wolf-Hirschhorn syndrome. 61 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. 57 61
19764025 2009
5
A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome. 61 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. 57 61
18932224 2008
7
Seizure frequency in adults with Wolf-Hirschhorn syndrome. 57 61
18792972 2008
8
Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH). 57 61
17873117 2008
9
The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case. 57 61
15948183 2005
10
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map. 61 57
15342700 2004
11
MSX1 gene is deleted in Wolf-Hirschhorn syndrome patients with oligodontia. 61 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. 57 61
12563561 2003
13
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. 61 57
12058347 2002
14
An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality. 61 57
11584045 2001
15
Mouse models for the Wolf-Hirschhorn deletion syndrome. 57 61
11152656 2001
16
Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS). 61 57
11183188 2000
17
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. 61 57
10995514 2000
18
Natural history of Wolf-Hirschhorn syndrome: experience with 15 cases. 57 61
10103318 1999
19
Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks syndrome. 61 57
9489803 1998
20
Wolf-Hirschhorn and Pitt-Rogers-Danks syndromes caused by overlapping 4p deletions. 61 57
9482639 1998
21
Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome. 57 61
9321756 1997
22
Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3. 57 61
9222965 1997
23
A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. 61 57
9063753 1997
24
Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome. 61 57
8957525 1996
25
Cytogenetic abnormalities in two new patients with Pitt-Rogers-Danks phenotype. 57 61
8957526 1996
26
Pitt-Rogers-Danks syndrome: the result of a 4p microdeletion. 57 61
8957524 1996
27
From Pitt-Rogers-Danks syndrome to Wolf-Hirschhorn syndrome and back? 61 57
8957527 1996
28
Pitt-Rogers-Danks syndrome: further delineation. 57 61
7762580 1995
29
The Wolf-Hirschhorn syndrome in fetuses. 61 57
1493641 1992
30
A molecular deletion of distal chromosome 4p in two families with a satellited chromosome 4 lacking the Wolf-Hirschhorn syndrome phenotype. 61 57
1384329 1992
31
Clinical, cytogenetic and molecular investigations in three patients with Wolf-Hirschhorn syndrome. 57 61
1424245 1992
32
Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome. 57 61
1379774 1992
33
A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation. 57 61
1640422 1992
34
Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. 61 57
1746553 1991
35
Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome. 61 57
1856831 1991
36
Molecular analysis of 4p deletion associated with Wolf-Hirschhorn syndrome moving the "critical segment" towards the telomere. 57 61
2016087 1991
37
A girl with the Pitt-Rogers-Danks syndrome. 61 57
2705474 1989
38
Wolf-Hirschhorn locus is distal to D4S10 on short arm of chromosome 4. 57 61
3612716 1987
39
A further patient with the Pitt-Rogers-Danks syndrome of mental retardation, unusual face, and intrauterine growth retardation. 57 61
3706410 1986
40
Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome. 57 61
2997623 1985
41
The Wolf-Hirschhorn syndrome. I. Genetics. 57 61
7398109 1980
42
Further delineation of Wittwer syndrome and refinement of the mapping region. 57
12476452 2003
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
[Deficiency on the short arms of a chromosome No. 4]. 57
5868696 1965
49
Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. 57
5895684 1965
50
An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome. 61
33599186 2021

Variations for Wolf-Hirschhorn Syndrome

ClinVar genetic disease variations for Wolf-Hirschhorn Syndrome:

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NSD2 NM_133330.2(NSD2):c.1676_1679del Microsatellite Pathogenic 547999 rs1553873247 4:1940176-1940179 4:1938449-1938452
2 NSD2 NM_001042424.3(NSD2):c.708G>A (p.Trp236Ter) SNV Pathogenic 599448 rs1560602800 4:1906053-1906053 4:1904326-1904326
3 NSD2 NM_001042424.3(NSD2):c.1569dup (p.Lys524fs) Duplication Pathogenic 599447 rs1560696317 4:1936881-1936882 4:1935154-1935155
4 NSD2 NM_001042424.3(NSD2):c.793C>T (p.Gln265Ter) SNV Pathogenic 599449 rs1560635105 4:1918630-1918630 4:1916903-1916903
5 POLN GRCh37/hg19 4p16.3(chr4:1305802-2460571) copy number loss Pathogenic 625700 4:1305802-2460571
6 DHX15 GRCh37/hg19 4p15.31-15.2(chr4:19186845-24548281) copy number loss Pathogenic 625782 4:19186845-24548281
7 ATP5ME GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411) copy number loss Pathogenic 625664 4:75742-8672411
8 LETM1 NM_012318.3(LETM1):c.1261A>T (p.Met421Leu) SNV Uncertain significance 930379 4:1825442-1825442 4:1823715-1823715
9 FGFRL1 NM_001004356.3(FGFRL1):c.842T>G (p.Leu281Arg) SNV Uncertain significance 932096 4:1018222-1018222 4:1024434-1024434
10 NSD2 NM_001042424.3(NSD2):c.1902C>T (p.Asp634=) SNV Uncertain significance 348438 rs746926553 4:1952819-1952819 4:1951092-1951092
11 NSD2 NM_001042424.3(NSD2):c.-29-6901dup Duplication Uncertain significance 348402 rs886059308 4:1895445-1895446 4:1893718-1893719
12 NSD2 NM_001042424.3(NSD2):c.*1922dup Duplication Uncertain significance 348485 rs886059331 4:1982557-1982558 4:1980830-1980831
13 NSD2 NM_001042424.3(NSD2):c.*2012dup Duplication Uncertain significance 348488 rs766138833 4:1982645-1982646 4:1980918-1980919
14 NSD2 NM_001042424.3(NSD2):c.*1370dup Duplication Uncertain significance 348474 rs886059325 4:1981999-1982000 4:1980272-1980273
15 NSD2 NM_001042424.3(NSD2):c.*339_*341CTC[1] Microsatellite Likely benign 348458 rs375129793 4:1980975-1980977 4:1979248-1979250

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 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
10.95 NSD3 NSD2 H3C14

GO Terms for Wolf-Hirschhorn Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.32 SLBP SALL4 POLN NSD3 NSD2 NELFA

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

# Name GO ID Score Top Affiliating Genes
1 bone morphogenesis GO:0060349 9.16 MSX1 FGFR3
2 cristae formation GO:0042407 8.96 LETM1 ATP5ME
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 histone-lysine N-methyltransferase activity GO:0018024 9.26 NSD3 NSD2
2 fibroblast growth factor binding GO:0017134 9.16 FGFRL1 FGFR3
3 histone methyltransferase activity (H3-K36 specific) GO:0046975 8.96 NSD3 NSD2
4 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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