MCID: WLF002
MIFTS: 45

Wolf-Hirschhorn Syndrome malady

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

Aliases & Classifications for Wolf-Hirschhorn Syndrome

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Aliases & Descriptions for Wolf-Hirschhorn Syndrome:

Name: Wolf-Hirschhorn Syndrome 51 11 70 23 47 24 25 12 38 13 67
Pitt-Rogers-Danks Syndrome 11 47 24 67
4p- Syndrome 23 47 24 25
Monosomy 4p 23 24 25
4p Deletion Syndrome 11 25
Wittwer Syndrome 47 67
Wolf Syndrome 47 24
Whs 47 25
Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation 47
Chromosome 4p16.3 Deletion Syndrome 11
Chromosome 4 Short Arm Deletion 67
 
Chromosome 4p Deletion Syndrome 25
Chromosome 4p Syndrome 47
Chromosome 4p Monosomy 25
Telomeric Deletion 4p 47
Partial Monosomy 4p 25
Distal Deletion 4p 47
Distal Monosomy 4p 47
Del Syndrome 25
Pitt Syndrome 11
4p Syndrome 47

Characteristics:

HPO:

63
wolf-hirschhorn syndrome:
Inheritance: autosomal dominant inheritance, sporadic

Classifications:



External Ids:

OMIM51 194190
Disease Ontology11 DOID:0050460
ICD1029 Q93.3
SNOMED-CT61 17122004
MeSH38 D054877
NCIt44 C35528

Summaries for Wolf-Hirschhorn Syndrome

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NIH Rare Diseases:47 Wolf-Hirschhorn syndrome (WHS) is a genetic condition 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 affected people, and studies suggest that larger deletions tend to result in more severe features. Most cases of WHS are not inherited, but some cases are inherited from an unaffected parent. Last updated: 12/4/2014

MalaCards based summary: Wolf-Hirschhorn Syndrome, also known as pitt-rogers-danks syndrome, is related to chromosome 4p deletion and wieacker-wolff syndrome, and has symptoms including microcephaly, dolichocephaly and epicanthus. An important gene associated with Wolf-Hirschhorn Syndrome is NSD2 (Nuclear Receptor Binding SET Domain Protein 2), and among its related pathways is Neuroscience. Affiliated tissues include heart, brain and eye.

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

OMIM:51 Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency,... (194190) more...

GeneReviews for NBK1183

Related Diseases for Wolf-Hirschhorn Syndrome

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



Diseases related to wolf-hirschhorn syndrome

Symptoms for Wolf-Hirschhorn Syndrome

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Symptoms by clinical synopsis from OMIM:

194190

Clinical features from OMIM:

194190

Human phenotypes related to Wolf-Hirschhorn Syndrome:

 63 (show all 114)
id Description HPO Frequency HPO Source Accession
1 microcephaly63 hallmark (90%) HP:0000252
2 dolichocephaly63 hallmark (90%) HP:0000268
3 epicanthus63 hallmark (90%) HP:0000286
4 hypertelorism63 hallmark (90%) HP:0000316
5 short philtrum63 hallmark (90%) HP:0000322
6 micrognathia63 hallmark (90%) HP:0000347
7 high forehead63 hallmark (90%) HP:0000348
8 low-set, posteriorly rotated ears63 hallmark (90%) HP:0000368
9 downslanted palpebral fissures63 hallmark (90%) HP:0000494
10 seizures63 hallmark (90%) HP:0001250
11 global developmental delay63 hallmark (90%) HP:0001263
12 generalized hypotonia63 hallmark (90%) HP:0001290
13 intrauterine growth retardation63 hallmark (90%) HP:0001511
14 small for gestational age63 hallmark (90%) HP:0001518
15 frontal bossing63 hallmark (90%) HP:0002007
16 incoordination63 hallmark (90%) HP:0002311
17 eeg abnormality63 hallmark (90%) HP:0002353
18 highly arched eyebrow63 hallmark (90%) HP:0002553
19 downturned corners of mouth63 hallmark (90%) HP:0002714
20 decreased muscle mass63 hallmark (90%) HP:0003199
21 high anterior hairline63 hallmark (90%) HP:0009890
22 cognitive impairment63 hallmark (90%) HP:0100543
23 ptosis63 common (75%) HP:0000508
24 failure to thrive63 common (75%) HP:0001508
25 short stature63 common (75%) HP:0004322
26 severe postnatal growth retardation63 common (75%) HP:0008850
27 immunodeficiency63 69% HP:0002721
28 cryptorchidism63 typical (50%) HP:0000028
29 hypospadias63 typical (50%) HP:0000047
30 abnormality of the kidney63 typical (50%) HP:0000077
31 short upper lip63 typical (50%) HP:0000188
32 abnormality of the pinna63 typical (50%) HP:0000377
33 preauricular skin tag63 typical (50%) HP:0000384
34 stenosis of the external auditory canal63 typical (50%) HP:0000402
35 wide nasal bridge63 typical (50%) HP:0000431
36 convex nasal ridge63 typical (50%) HP:0000444
37 strabismus63 typical (50%) HP:0000486
38 rieger anomaly63 typical (50%) HP:0000558
39 iris coloboma63 typical (50%) HP:0000612
40 nystagmus63 typical (50%) HP:0000639
41 optic atrophy63 typical (50%) HP:0000648
42 hypodontia63 typical (50%) HP:0000668
43 congenital diaphragmatic hernia63 typical (50%) HP:0000776
44 sacral dimple63 typical (50%) HP:0000960
45 arachnodactyly63 typical (50%) HP:0001166
46 preaxial hand polydactyly63 typical (50%) HP:0001177
47 calvarial skull defect63 typical (50%) HP:0001362
48 atria septal defect63 typical (50%) HP:0001631
49 abnormality of the heart valves63 typical (50%) HP:0001654
50 prominent glabella63 typical (50%) HP:0002057
51 scoliosis63 typical (50%) HP:0002650
52 delayed skeletal maturation63 typical (50%) HP:0002750
53 kyphosis63 typical (50%) HP:0002808
54 abnormal form of the vertebral bodies63 typical (50%) HP:0003312
55 preauricular pit63 typical (50%) HP:0004467
56 craniofacial asymmetry63 typical (50%) HP:0004484
57 aplasia/hypoplasia of the lungs63 typical (50%) HP:0006703
58 conductive hearing impairment63 40% HP:0000405
59 proptosis63 frequent (33%) HP:0000520
60 stereotypy63 frequent (33%) HP:0000733
61 rib fusion63 frequent (33%) HP:0000902
62 hemangioma63 frequent (33%) HP:0001028
63 talipes equinovarus63 frequent (33%) HP:0001762
64 rib segmentation abnormalities63 frequent (33%) HP:0006655
65 sensorineural hearing impairment63 15% HP:0000407
66 cleft palate63 occasional (7.5%) HP:0000175
67 otitis media63 occasional (7.5%) HP:0000388
68 megalocornea63 occasional (7.5%) HP:0000485
69 retinopathy63 occasional (7.5%) HP:0000488
70 sclerocornea63 occasional (7.5%) HP:0000647
71 split hand63 occasional (7.5%) HP:0001171
72 agenesis of corpus callosum63 occasional (7.5%) HP:0001274
73 hip dysplasia63 occasional (7.5%) HP:0001385
74 disproportionate tall stature63 occasional (7.5%) HP:0001519
75 preaxial foot polydactyly63 occasional (7.5%) HP:0001841
76 recurrent respiratory infections63 occasional (7.5%) HP:0002205
77 abdominal situs inversus63 occasional (7.5%) HP:0003363
78 reduced bone mineral density63 occasional (7.5%) HP:0004349
79 abnormality of the gallbladder63 occasional (7.5%) HP:0005264
80 aplasia/hypoplasia of the nipples63 occasional (7.5%) HP:0006709
81 aplasia/hypoplasia of the cerebellum63 occasional (7.5%) HP:0007360
82 aplasia cutis congenita of scalp63 occasional (7.5%) HP:0007385
83 short thumb63 occasional (7.5%) HP:0009778
84 short hallux63 occasional (7.5%) HP:0010109
85 abnormality of movement63 occasional (7.5%) HP:0100022
86 aplasia of the uterus63 rare (5%) HP:0000151
87 hydrocephalus63 rare (5%) HP:0000238
88 webbed neck63 rare (5%) HP:0000465
89 single transverse palmar crease63 rare (5%) HP:0000954
90 biliary tract abnormality63 rare (5%) HP:0001080
91 tethered cord63 rare (5%) HP:0002144
92 intellectual disability63 HP:0001249
93 muscular hypotonia63 HP:0001252
94 cleft upper lip63 HP:0000204
95 precocious puberty63 HP:0000826
96 absent septum pellucidum63 HP:0001331
97 decreased fetal movement63 HP:0001558
98 ventricular septal defect63 HP:0001629
99 accessory spleen63 HP:0001747
100 hyperconvex fingernails63 HP:0001812
101 metatarsus adductus63 HP:0001840
102 gastroesophageal reflux63 HP:0002020
103 ventriculomegaly63 HP:0002119
104 low posterior hairline63 HP:0002162
105 cavum septum pellucidum63 HP:0002389
106 hip dislocation63 HP:0002827
107 vertebral fusion63 HP:0002948
108 radioulnar synostosis63 HP:0002974
109 malrotation of small bowel63 HP:0004794
110 periventricular cysts63 HP:0007109
111 pseudoepiphyses of the metacarpals63 HP:0009193
112 ectopia pupillae63 HP:0009918
113 intellectual disability, severe63 HP:0010864
114 abnormal sternal ossification63 HP:0011863

UMLS symptoms related to Wolf-Hirschhorn Syndrome:


seizures

Drugs & Therapeutics for Wolf-Hirschhorn Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Wolf-Hirschhorn Syndrome


Cochrane evidence based reviews: wolf-hirschhorn syndrome

Genetic Tests for Wolf-Hirschhorn Syndrome

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Genetic tests related to Wolf-Hirschhorn Syndrome:

id Genetic test Affiliating Genes
1 Wolf-Hirschhorn Syndrome24
2 Pitt-Rogers-Danks Syndrome24

Anatomical Context for Wolf-Hirschhorn Syndrome

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MalaCards organs/tissues related to Wolf-Hirschhorn Syndrome:

35
Heart, Brain, Eye, Bone, Spleen, Lung, Uterus

Animal Models for Wolf-Hirschhorn Syndrome or affiliated genes

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Publications for Wolf-Hirschhorn Syndrome

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Articles related to Wolf-Hirschhorn Syndrome:

(show top 50)    (show all 232)
idTitleAuthorsYear
1
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
2
Single port laparoscopic splenectomy for wandering spleen with splenomegaly in a patient with Wolf-Hirschhorn syndrome. (28000649)
2016
3
Detection of recurrent 4p16.3 microdeletion with 2p25.3 microduplication by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in a fetus from a family with Wolf-Hirschhorn syndrome. (26927259)
2016
4
Auditory hair cell defects as potential cause for sensorineural deafness in Wolf-Hirschhorn syndrome. (26092122)
2015
5
LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition. (24626991)
2014
6
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. (24243641)
2014
7
Wolf-Hirschhorn syndrome (WHS) - literature review on the features of the syndrome. (24979523)
2014
8
109a88kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome. (23637096)
2013
9
Prenatal ultrasound findings observed in the Wolf-hirschhorn syndrome: Data from the registry of congenital malformations in auvergne. (24343879)
2013
10
Lung tumor-associated dendritic cell-derived resistin promoted cancer progression by increasing Wolf-Hirschhorn syndrome candidate 1/Twist pathway. (23955539)
2013
11
Microarray analysis of unbalanced translocation in Wolf-Hirschhorn syndrome. (23782367)
2013
12
Three patients with Wolf-Hirschhorn syndrome carrying a satellited chromosome 4p. (22641563)
2012
13
Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports. (23227376)
2012
14
Wolf-Hirschhorn syndrome candidate 1 is involved in the cellular response to DNA damage. (21788515)
2011
15
Clinical characterization and proposed mechanism of juvenile glaucoma--a patient with a chromosome 4p deletion, Wolf-Hirschhorn Syndrome. (20569021)
2010
16
Wolf-Hirschhorn syndrome: diagnosis using hand radiograph performed for bone age. (20062983)
2010
17
Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice. (19383940)
2009
18
Tethered cord, corpus callosum abnormalities, and periventricular cysts in Wolf-Hirschhorn syndrome. Report of two cases and review of the literature. (19764025)
2009
19
A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome. (19483677)
2009
20
Wolf-Hirschhorn syndrome; oro-dental manifestations and management. (20297712)
2009
21
On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review. (18932124)
2008
22
A short history of the initial discovery of the Wolf-Hirschhorn syndrome. (18932223)
2008
23
Bilateral microphthalmia with orbital cysts in Wolf-Hirschhorn syndrome. (18551766)
2008
24
Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies. (16470698)
2006
25
Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital diaphragmatic hernia, cystic hygroma and IUGR. (16903248)
2006
26
Oligomeganephronia in Wolf-Hirschhorn Syndrome. (17079842)
2006
27
Ultrasonographic findings of facial dysmorphism in Wolf-Hirschhorn syndrome. (15731989)
2005
28
Physical and developmental phenotype analyses in a boy with Wolf-Hirschhorn syndrome. (15844776)
2005
29
The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case. (15948183)
2005
30
4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype. (15580214)
2004
31
LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein. (14706454)
2004
32
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map. (15342700)
2004
33
MSX1 gene is deleted in Wolf-Hirschhorn syndrome patients with oligodontia. (14630905)
2003
34
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion. (10909852)
2000
35
Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndrome. (11173835)
2000
36
Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype. (10069706)
1999
37
Health supervision and anticipatory guidance of individuals with Wolf-Hirschhorn syndrome. (10559766)
1999
38
Management of sleeping problems in Wolf-Hirschhorn syndrome: a case study. (10631921)
1999
39
Identification of a de novo 46, XY,4p+ with incomplete Wolf-Hirschhorn syndrome as 46,XY,der(4)t(4;8)(p16.3;p23.1) (9664215)
1998
40
An unusual chromosome rearrangement in a patient with features of the Wolf-Hirschhorn syndrome. (9584686)
1998
41
A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat. (7897631)
1995
42
Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome. (8182713)
1994
43
A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation. (1640422)
1992
44
Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome. (1379774)
1992
45
Prenatal diagnosis of cystic hygroma and chorioangioma in the Wolf-Hirschhorn syndrome. (2062819)
1991
46
Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. (1746553)
1991
47
Familial Wolf-Hirschhorn syndrome associated with Rieger anomaly of the eye. (2348979)
1990
48
The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be implicated in Wolf-Hirschhorn syndrome. (1969845)
1990
49
Malignant hyperthermia in the Wolf-Hirschhorn syndrome. (2757162)
1989
50
Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome. (2997623)
1985

Variations for Wolf-Hirschhorn Syndrome

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Copy number variations for Wolf-Hirschhorn Syndrome from CNVD:

6 (show all 14)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1179944413100000Copy numberWolf-Hirschhorn syndrome
2179946413100000Copy numberLETM1Wolf-Hirschhorn syndrome
3179948413100000Copy numberWHSC1Wolf-Hirschhorn syndrome
4179949413100000Copy numberWHSC1Wolf-Hirschhorn syndrome
5179955413100000MicrodeletionWolf-Hirschhorn syndrome
6179956413100000MicrodeletionFGFR3Wolf-Hirschhorn syndrome
7179966414500000DeletionWHCRWolf-Hirschhorn syndrome
8185923425678122704100MicrodeletionFAM193AWolf-Hirschhorn syndrome
9186013427131842727859MicrodeletionTNIP2Wolf-Hirschhorn syndrome
10186039427645472812621MicrodeletionSH3BP2Wolf-Hirschhorn syndrome
11186069428153812901587MicrodeletionADD1Wolf-Hirschhorn syndrome
12186114429020922906359MicrodeletionMFSD10Wolf-Hirschhorn syndrome
13186117429094612934916MicrodeletionNOP14Wolf-Hirschhorn syndrome
14186132429351403012272MicrodeletionGRK4Wolf-Hirschhorn syndrome

Expression for genes affiliated with Wolf-Hirschhorn Syndrome

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

Pathways for genes affiliated with Wolf-Hirschhorn Syndrome

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

idSuper pathwaysScoreTop Affiliating Genes
19.1CPLX1, MSX1, WFS1

GO Terms for genes affiliated with Wolf-Hirschhorn Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1NELF complexGO:00320219.8MIR943, NELFA

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of transcription elongation from RNA polymerase II promoterGO:003424410.1MIR943, NELFA
2positive regulation of viral transcriptionGO:00504349.9MIR943, NELFA
3positive regulation of histone H3-K4 methylationGO:00515719.8MIR943, NELFA
4bone morphogenesisGO:00603499.4FGFR3, MSX1

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00050079.7FGFR3, FGFRL1
2fibroblast growth factor bindingGO:00171349.4FGFR3, FGFRL1

Sources for Wolf-Hirschhorn Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet