MCID: WLF002
MIFTS: 52

Wolf-Hirschhorn Syndrome

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

Aliases & Classifications for Wolf-Hirschhorn Syndrome

MalaCards integrated aliases for Wolf-Hirschhorn Syndrome:

Name: Wolf-Hirschhorn Syndrome 57 12 76 24 53 25 13 44 15 40 40 73
Pitt-Rogers-Danks Syndrome 57 12 53 73
4p Deletion Syndrome 12 25 37
Wittwer Syndrome 57 53 73
Whs 57 53 25
Chromosome 4p16.3 Deletion Syndrome 57 12
Pitt Syndrome 57 12
4p- Syndrome 53 25
Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation 53
Pitt-Rogers-Danks Syndrome; Prds 57
Chromosome 4p Deletion Syndrome 25
Chromosome 4 Short Arm Deletion 73
Chromosome 4p Syndrome 53
Chromosome 4p Monosomy 25
Telomeric Deletion 4p 53
Partial Monosomy 4p 25
Distal Deletion 4p 53
Distal Monosomy 4p 53
Del Syndrome 25
Wolf Syndrome 53
Monosomy 4p 25
4p Syndrome 53
Prds 57

Characteristics:

OMIM:

57
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:

32
wolf-hirschhorn syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Wolf-Hirschhorn Syndrome

NIH Rare Diseases : 53 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.

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 Lysine degradation. Affiliated tissues include heart, brain and eye, and related phenotypes are hypertelorism and agenesis of corpus callosum

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)

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.

Wikipedia : 76 Wolf–Hirschhorn syndrome (WHS), also known as chromosome deletion Dillan 4p syndrome, Pitt–Rogers–Danks... more...

GeneReviews:

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 70)
# Related Disease Score Top Affiliating Genes
1 chromosome 4p deletion 32.4 LETM1 NSD2 WFS1
2 chromosomal deletion syndrome 29.4 LETM1 NELFA NSD2
3 oligomeganephronia 11.6
4 wieacker-wolff syndrome 11.5
5 aplasia cutis congenita, nonsyndromic 11.3
6 woolly hair, autosomal dominant 11.2
7 hypotrichosis 8 11.1
8 hypotrichosis 7 11.1
9 retinal dysplasia, primary 10.9
10 chromosome 3p deletion 10.6
11 chromosome 3p- syndrome 10.6
12 distal chromosome 18q deletion syndrome 10.6
13 proximal chromosome 18q deletion syndrome 10.6
14 epilepsy 10.4
15 diaphragmatic hernia, congenital 10.3
16 malignant hyperthermia 10.2
17 chromosome 4p duplication 10.2
18 aging 10.1
19 hemangioma 10.1
20 hepatitis 10.1
21 hypospadias 10.1
22 cystic lymphangioma 10.1
23 cleft lip 10.1
24 ring chromosome 4 10.1
25 splenomegaly 10.1
26 wandering spleen 10.1
27 vesicoureteral reflux 1 10.0
28 meier-gorlin syndrome 1 10.0
29 glaucoma 3, primary congenital, a 10.0
30 hypoplastic left heart syndrome 1 10.0
31 myeloma, multiple 10.0
32 neuroblastoma 10.0
33 cavitary optic disc anomalies 10.0
34 alacrima, achalasia, and mental retardation syndrome 10.0
35 diabetes mellitus 10.0
36 hypoplastic left heart syndrome 10.0
37 opitz-gbbb syndrome 10.0
38 lymphoma 10.0
39 cutaneous t cell lymphoma 10.0
40 split hand-foot malformation 10.0
41 microphthalmia 10.0
42 juvenile glaucoma 10.0
43 choroiditis 10.0
44 hypertrophic cardiomyopathy 10.0
45 oligohydramnios 10.0
46 orbital cyst 10.0
47 status epilepticus 10.0
48 chorioangioma 10.0
49 acute pancreatitis 10.0
50 mongolian spot 10.0

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 via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
nystagmus
strabismus
iris coloboma
more
Endocrine Features:
precocious puberty

Skeletal Spine:
scoliosis
kyphosis
sacral dimple
fused vertebrae
sacral sinus
more
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

GenitourinaryInternal GenitaliaMale:
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

Neurologic Central Nervous System:
hydrocephalus
seizures
absent septum pellucidum
hypotonia
enlarged ventricles
more
Growth Other:
failure to thrive
marked intrauterine growth retardation

Head And Neck Nose:
wide nasal bridge
beaked nose

Abdomen Gastrointestinal:
gastroesophageal reflux
malrotation of small bowel

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

Skeletal Feet:
metatarsus adductus
talipes equinovarus
polydactyly

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

AbdomenSpleen:
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

Human phenotypes related to Wolf-Hirschhorn Syndrome:

32 (show top 50) (show all 116)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 frequent (33%) HP:0000316
2 agenesis of corpus callosum 32 occasional (7.5%) HP:0001274
3 frontal bossing 32 hallmark (90%) HP:0002007
4 hydrocephalus 32 occasional (7.5%) HP:0000238
5 ptosis 32 frequent (33%) HP:0000508
6 nystagmus 32 frequent (33%) HP:0000639
7 precocious puberty 32 HP:0000826
8 intellectual disability 32 HP:0001249
9 seizures 32 frequent (33%) HP:0001250
10 ataxia 32 hallmark (90%) HP:0001251
11 muscular hypotonia 32 hallmark (90%) HP:0001252
12 failure to thrive 32 frequent (33%) HP:0001508
13 eeg abnormality 32 very rare (1%) HP:0002353
14 scoliosis 32 frequent (33%) HP:0002650
15 kyphosis 32 frequent (33%) HP:0002808
16 hearing impairment 32 frequent (33%) HP:0000365
17 chronic otitis media 32 occasional (7.5%) HP:0000389
18 global developmental delay 32 hallmark (90%) HP:0001263
19 hip dysplasia 32 occasional (7.5%) HP:0001385
20 recurrent respiratory infections 32 occasional (7.5%) HP:0002205
21 delayed skeletal maturation 32 frequent (33%) HP:0002750
22 wide nasal bridge 32 frequent (33%) HP:0000431
23 microtia 32 hallmark (90%) HP:0008551
24 microcephaly 32 frequent (33%) HP:0000252
25 sensorineural hearing impairment 32 very rare (1%) HP:0000407
26 optic atrophy 32 frequent (33%) HP:0000648
27 short stature 32 frequent (33%) HP:0004322
28 gastroesophageal reflux 32 HP:0002020
29 retinopathy 32 occasional (7.5%) HP:0000488
30 stereotypy 32 frequent (33%) HP:0000733
31 osteoporosis 32 occasional (7.5%) HP:0000939
32 decreased muscle mass 32 hallmark (90%) HP:0003199
33 abnormality of the gallbladder 32 occasional (7.5%) HP:0005264
34 intellectual disability, severe 32 hallmark (90%) HP:0010864
35 immunodeficiency 32 very rare (1%) HP:0002721
36 abnormality of movement 32 occasional (7.5%) HP:0100022
37 cleft palate 32 occasional (7.5%) HP:0000175
38 micrognathia 32 frequent (33%) HP:0000347
39 strabismus 32 frequent (33%) HP:0000486
40 epicanthus 32 frequent (33%) HP:0000286
41 megalocornea 32 occasional (7.5%) HP:0000485
42 dolichocephaly 32 hallmark (90%) HP:0000268
43 abnormal form of the vertebral bodies 32 frequent (33%) HP:0003312
44 cryptorchidism 32 very rare (1%) HP:0000028
45 metatarsus adductus 32 HP:0001840
46 intrauterine growth retardation 32 hallmark (90%) HP:0001511
47 aplasia/hypoplasia of the nipples 32 occasional (7.5%) HP:0006709
48 webbed neck 32 occasional (7.5%) HP:0000465
49 low posterior hairline 32 hallmark (90%) HP:0002162
50 atrial septal defect 32 very rare (1%) HP:0001631

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 9.35 FGFR3 LETM1 MSX1 NSD2 SALL4
2 digestive/alimentary MP:0005381 9.02 FGFR3 MSX1 NSD2 SALL4 WFS1

Drugs & Therapeutics for Wolf-Hirschhorn Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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

Anatomical Context for Wolf-Hirschhorn Syndrome

MalaCards organs/tissues related to Wolf-Hirschhorn Syndrome:

41
Heart, Brain, Eye, Uterus, Bone, Spleen, Lung

Publications for Wolf-Hirschhorn Syndrome

Articles related to Wolf-Hirschhorn Syndrome:

(show top 50) (show all 255)
# Title Authors Year
1
Growth trajectory and pubertal tempo from birth till final height in a girl with Wolf-Hirschhorn syndrome. ( 29675261 )
2018
2
Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature. ( 29199884 )
2018
3
A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf-Hirschhorn syndrome. ( 29477837 )
2018
4
Dissecting the Wolf-Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism. ( 29884796 )
2018
5
Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling. ( 29808250 )
2018
6
Prenatal diagnosis of Wolf-Hirschhorn syndrome at the first trimester using chromosomal microarray analysis. ( 29635948 )
2018
7
Oligonephronia and Wolf-Hirschhorn syndrome: A further observation. ( 29193639 )
2018
8
Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome. ( 29721507 )
2018
9
Prenatal diagnosis of Wolf-Hirschhorn syndrome: Ultrasonography and molecular karyotyping results. ( 29626710 )
2018
10
Single port laparoscopic splenectomy for wandering spleen with splenomegaly in a patient with Wolf-Hirschhorn syndrome. ( 28281478 )
2017
11
Treatment of intractable seizure in Wolf-Hirschhorn syndrome with bromide. ( 28377151 )
2017
12
A structured assessment of motor function, behavior, and communication in patients with Wolf-Hirschhorn syndrome. ( 28818479 )
2017
13
[Wolf-Hirschhorn syndrome: just a citation omission?] ( 28849869 )
2017
14
Anesthetic considerations for a pediatric patient with Wolf-Hirschhorn syndrome: a case report. ( 29090255 )
2017
15
Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones. ( 29241927 )
2017
16
Hepatoblastoma and Wolf-Hirschhorn syndrome: Coincidence or a new feature of a rare disease? ( 28786167 )
2017
17
Diabetes Mellitus Secondary to Acute Pancreatitis in a Child with Wolf-Hirschhorn Syndrome. ( 29204299 )
2017
18
Wolf-Hirschhorn Syndrome Candidate 1 (whsc1) Functions as a Tumor Suppressor by Governing Cell Differentiation. ( 28654864 )
2017
19
Hepatic Malignancy in an Infant with Wolf-Hirschhorn Syndrome. ( 28266898 )
2017
20
A case for cannabidiol in Wolf-Hirschhorn syndrome seizure management. ( 28102593 )
2017
21
Wolf-Hirschhorn Syndrome Candidate 1 Is Necessary for Correct Hematopoietic and B Cell Development. ( 28538178 )
2017
22
Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa. ( 28794913 )
2017
23
Neuroblastoma in a Child With Wolf-Hirschhorn Syndrome. ( 28085742 )
2017
24
Wolf-Hirschhorn syndrome candidate 1-like 1 epigenetically regulates nephrin gene expression. ( 28228401 )
2017
25
Early Postnatal Seizures in a Neonate with Wolf-Hirschhorn Syndrome. ( 27994945 )
2016
26
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
27
Exploring the developmental mechanisms underlying Wolf-Hirschhorn Syndrome: Evidence for defects in neural crest cell migration. ( 27777068 )
2016
28
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
29
Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome. ( 26747863 )
2016
30
Airway Management in a Patient with Wolf-Hirschhorn Syndrome. ( 27752382 )
2016
31
EP10.23: Application of 3D ultrasonography in analysis of fetal anomalies in Wolf-Hirschhorn syndrome. ( 27645370 )
2016
32
Wolf-Hirschhorn Syndrome with Epibulbar Dermoid: An Unusual Association in a Patient with 4p Deletion and Functional Xp Disomy. ( 27842301 )
2016
33
Single port laparoscopic splenectomy for wandering spleen with splenomegaly in a patient with Wolf-Hirschhorn syndrome. ( 28000649 )
2016
34
Successful treatment of migrating partial seizures in Wolf-Hirschhorn syndrome with bromide. ( 26797656 )
2016
35
Excellent response to levetiracetam in epilepsy with Wolf-Hirschhorn syndrome. ( 26590026 )
2016
36
Auditory hair cell defects as potential cause for sensorineural deafness in Wolf-Hirschhorn syndrome. ( 26092122 )
2015
37
Atypical Varicella in a Patient With Wolf-Hirschhorn Syndrome. ( 25673626 )
2015
38
Uncommon oral cleft in wolf-hirschhorn syndrome. ( 25831115 )
2015
39
Severe short stature and Wolf-Hirschhorn syndrome: response to growth hormone in two cases without growth hormone deficiency. ( 25988083 )
2015
40
Wolf-Hirschhorn syndrome: A review and update. ( 26239400 )
2015
41
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. ( 24243641 )
2014
42
Affinity for music in Wolf-Hirschhorn syndrome: two case reports. ( 25266617 )
2014
43
Wolf-Hirschhorn syndrome: a case with normal karyotype, demonstrated by array CGH (aCGH). ( 25204484 )
2014
44
Clinical features in adult patient with Wolf-Hirschhorn syndrome. ( 24656633 )
2014
45
Wolf-Hirschhorn syndrome (WHS) - literature review on the features of the syndrome. ( 24979523 )
2014
46
A rare subtelomeric deletion syndrome: Wolf Hirschhorn syndrome. ( 25365852 )
2014
47
Wolf-Hirschhorn syndrome: a case study and disease overview. ( 25137600 )
2014
48
Extensive Mongolian spots in 4p16.3 deletion (Wolf-Hirschhorn syndrome). ( 24859493 )
2014
49
LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition. ( 24626991 )
2014
50
Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4. ( 25057292 )
2014

Variations for Wolf-Hirschhorn Syndrome

ClinVar genetic disease variations for Wolf-Hirschhorn Syndrome:

6
(show top 50) (show all 228)
# Gene Variation Type Significance SNP ID Assembly Location
1 NSD2 NM_133330.2(NSD2): c.-384-5dupT duplication Uncertain significance rs886059308 GRCh38 Chromosome 4, 1893725: 1893725
2 NSD2 NM_133330.2(NSD2): c.-384-5dupT duplication Uncertain significance rs886059308 GRCh37 Chromosome 4, 1895452: 1895452
3 NSD2 NM_133330.2(NSD2): c.-145C> T single nucleotide variant Likely benign rs569542496 GRCh38 Chromosome 4, 1899280: 1899280
4 NSD2 NM_133330.2(NSD2): c.-145C> T single nucleotide variant Likely benign rs569542496 GRCh37 Chromosome 4, 1901007: 1901007
5 NSD2 NM_133330.2(NSD2): c.-119G> A single nucleotide variant Likely benign rs550551908 GRCh37 Chromosome 4, 1901033: 1901033
6 NSD2 NM_133330.2(NSD2): c.-119G> A single nucleotide variant Likely benign rs550551908 GRCh38 Chromosome 4, 1899306: 1899306
7 NSD2 NM_133330.2(NSD2): c.-59A> G single nucleotide variant Likely benign rs147609440 GRCh37 Chromosome 4, 1901093: 1901093
8 NSD2 NM_133330.2(NSD2): c.-59A> G single nucleotide variant Likely benign rs147609440 GRCh38 Chromosome 4, 1899366: 1899366
9 NSD2 NM_133330.2(NSD2): c.-43G> A single nucleotide variant Likely benign rs116056077 GRCh37 Chromosome 4, 1901109: 1901109
10 NSD2 NM_133330.2(NSD2): c.-43G> A single nucleotide variant Likely benign rs116056077 GRCh38 Chromosome 4, 1899382: 1899382
11 NSD2 NM_133330.2(NSD2): c.114C> T (p.Cys38=) single nucleotide variant Uncertain significance rs759922625 GRCh37 Chromosome 4, 1902495: 1902495
12 NSD2 NM_133330.2(NSD2): c.114C> T (p.Cys38=) single nucleotide variant Uncertain significance rs759922625 GRCh38 Chromosome 4, 1900768: 1900768
13 NSD2 NM_133330.2(NSD2): c.198C> T (p.Asn66=) single nucleotide variant Likely benign rs140040537 GRCh37 Chromosome 4, 1902579: 1902579
14 NSD2 NM_133330.2(NSD2): c.198C> T (p.Asn66=) single nucleotide variant Likely benign rs140040537 GRCh38 Chromosome 4, 1900852: 1900852
15 NSD2 NM_133330.2(NSD2): c.199G> A (p.Gly67Ser) single nucleotide variant Uncertain significance rs202235551 GRCh37 Chromosome 4, 1902580: 1902580
16 NSD2 NM_133330.2(NSD2): c.199G> A (p.Gly67Ser) single nucleotide variant Uncertain significance rs202235551 GRCh38 Chromosome 4, 1900853: 1900853
17 NSD2 NM_133330.2(NSD2): c.456T> G (p.Ser152=) single nucleotide variant Uncertain significance rs886059314 GRCh37 Chromosome 4, 1902837: 1902837
18 NSD2 NM_133330.2(NSD2): c.456T> G (p.Ser152=) single nucleotide variant Uncertain significance rs886059314 GRCh38 Chromosome 4, 1901110: 1901110
19 NSD2 NM_133330.2(NSD2): c.990A> G (p.Glu330=) single nucleotide variant Likely benign rs143425918 GRCh38 Chromosome 4, 1918203: 1918203
20 NSD2 NM_133330.2(NSD2): c.990A> G (p.Glu330=) single nucleotide variant Likely benign rs143425918 GRCh37 Chromosome 4, 1919930: 1919930
21 NSD2 NM_133330.2(NSD2): c.1330A> G (p.Thr444Ala) single nucleotide variant Likely benign rs112014939 GRCh38 Chromosome 4, 1918543: 1918543
22 NSD2 NM_133330.2(NSD2): c.1330A> G (p.Thr444Ala) single nucleotide variant Likely benign rs112014939 GRCh37 Chromosome 4, 1920270: 1920270
23 NSD2 NM_133330.2(NSD2): c.2352G> T (p.Arg784=) single nucleotide variant Likely benign rs531537433 GRCh38 Chromosome 4, 1955174: 1955174
24 NSD2 NM_133330.2(NSD2): c.2352G> T (p.Arg784=) single nucleotide variant Likely benign rs531537433 GRCh37 Chromosome 4, 1956901: 1956901
25 NSD2 NM_133330.2(NSD2): c.3126C> T (p.His1042=) single nucleotide variant Uncertain significance rs886059318 GRCh38 Chromosome 4, 1959611: 1959611
26 NSD2 NM_133330.2(NSD2): c.3126C> T (p.His1042=) single nucleotide variant Uncertain significance rs886059318 GRCh37 Chromosome 4, 1961338: 1961338
27 NSD2 NM_133330.2(NSD2): c.3495C> T (p.Ala1165=) single nucleotide variant Likely benign rs73069117 GRCh38 Chromosome 4, 1974985: 1974985
28 NSD2 NM_133330.2(NSD2): c.3495C> T (p.Ala1165=) single nucleotide variant Likely benign rs73069117 GRCh37 Chromosome 4, 1976712: 1976712
29 NSD2 NM_133330.2(NSD2): c.3582A> G (p.Gly1194=) single nucleotide variant Likely benign rs149284685 GRCh38 Chromosome 4, 1975361: 1975361
30 NSD2 NM_133330.2(NSD2): c.3582A> G (p.Gly1194=) single nucleotide variant Likely benign rs149284685 GRCh37 Chromosome 4, 1977088: 1977088
31 NSD2 NM_133330.2(NSD2): c.*9G> A single nucleotide variant Likely benign rs373762613 GRCh38 Chromosome 4, 1978918: 1978918
32 NSD2 NM_133330.2(NSD2): c.*9G> A single nucleotide variant Likely benign rs373762613 GRCh37 Chromosome 4, 1980645: 1980645
33 NSD2 NM_133330.2(NSD2): c.*183T> C single nucleotide variant Likely benign rs192992535 GRCh38 Chromosome 4, 1979092: 1979092
34 NSD2 NM_133330.2(NSD2): c.*183T> C single nucleotide variant Likely benign rs192992535 GRCh37 Chromosome 4, 1980819: 1980819
35 NSD2 NM_133330.2(NSD2): c.*342_*344delCTC deletion Likely benign rs886059321 GRCh37 Chromosome 4, 1980978: 1980980
36 NSD2 NM_133330.2(NSD2): c.*342_*344delCTC deletion Likely benign rs886059321 GRCh38 Chromosome 4, 1979251: 1979253
37 NSD2 NM_133330.2(NSD2): c.*593G> T single nucleotide variant Likely benign rs73202837 GRCh37 Chromosome 4, 1981229: 1981229
38 NSD2 NM_133330.2(NSD2): c.*593G> T single nucleotide variant Likely benign rs73202837 GRCh38 Chromosome 4, 1979502: 1979502
39 NSD2 NM_133330.2(NSD2): c.*620T> A single nucleotide variant Likely benign rs1132849 GRCh37 Chromosome 4, 1981256: 1981256
40 NSD2 NM_133330.2(NSD2): c.*620T> A single nucleotide variant Likely benign rs1132849 GRCh38 Chromosome 4, 1979529: 1979529
41 NSD2 NM_133330.2(NSD2): c.*661G> A single nucleotide variant Uncertain significance rs767998808 GRCh37 Chromosome 4, 1981297: 1981297
42 NSD2 NM_133330.2(NSD2): c.*661G> A single nucleotide variant Uncertain significance rs767998808 GRCh38 Chromosome 4, 1979570: 1979570
43 NSD2 NM_133330.2(NSD2): c.*745T> C single nucleotide variant Uncertain significance rs886059323 GRCh37 Chromosome 4, 1981381: 1981381
44 NSD2 NM_133330.2(NSD2): c.*745T> C single nucleotide variant Uncertain significance rs886059323 GRCh38 Chromosome 4, 1979654: 1979654
45 NSD2 NM_133330.2(NSD2): c.*969G> A single nucleotide variant Likely benign rs562124371 GRCh37 Chromosome 4, 1981605: 1981605
46 NSD2 NM_133330.2(NSD2): c.*969G> A single nucleotide variant Likely benign rs562124371 GRCh38 Chromosome 4, 1979878: 1979878
47 NSD2 NM_133330.2(NSD2): c.*986G> A single nucleotide variant Uncertain significance rs886059324 GRCh38 Chromosome 4, 1979895: 1979895
48 NSD2 NM_133330.2(NSD2): c.*986G> A single nucleotide variant Uncertain significance rs886059324 GRCh37 Chromosome 4, 1981622: 1981622
49 NSD2 NM_133330.2(NSD2): c.*1025C> A single nucleotide variant Likely benign rs548104599 GRCh37 Chromosome 4, 1981661: 1981661
50 NSD2 NM_133330.2(NSD2): c.*1025C> A single nucleotide variant Likely benign rs548104599 GRCh38 Chromosome 4, 1979934: 1979934

Copy number variations for Wolf-Hirschhorn Syndrome from CNVD:

7 (show all 14)
# 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:

# Super pathways Score Top Affiliating Genes
1 10.39 NSD2 NSD3

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 negative regulation of transcription by RNA polymerase II GO:0000122 9.46 MSX1 NSD2 SALL4 WFS1
2 embryonic limb morphogenesis GO:0030326 8.96 MSX1 SALL4
3 bone morphogenesis GO:0060349 8.62 FGFR3 MSX1

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 8.62 NSD2 NSD3

Sources for Wolf-Hirschhorn Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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