WHS
MCID: WLF002
MIFTS: 60

Wolf-Hirschhorn Syndrome (WHS) malady

Genetic diseases, Neuronal diseases, Eye diseases, Ear diseases, Fetal diseases, Smell/Taste diseases categories

Summaries for Wolf-Hirschhorn Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Wolf-hirschhorn syndrome is a genetic 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. wolf-hirschhorn syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. this chromosomal change is sometimes written as 4p-. the size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and physical abnormalities than smaller deletions. most cases of this disorder are not inherited, although sometimes wolf-hirschhorn syndrome is inherited from an unaffected parent. last updated: 5/5/2009

MalaCards: Wolf-Hirschhorn Syndrome, also known as pitt-rogers-danks syndrome, is related to epilepsy syndrome and congenital diaphragmatic hernia, and has symptoms including sclerocornea, megalocornea and proptosis/exophthalmos. An important gene associated with Wolf-Hirschhorn Syndrome is NELFA (negative elongation factor complex member A), and among its related pathways are Lysine degradation and Transcription. The compound l-lysine have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and kidney.

Genetics Home Reference:21 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.

Description from OMIM:46 194190

GeneReviews summary for whs

Aliases & Classifications for Wolf-Hirschhorn Syndrome

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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

48
wolf-hirschhorn syndrome:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Adult


Aliases & Descriptions:

wolf-hirschhorn syndrome 8 9 19 42 20 21 46 10 48 60
pitt-rogers-danks syndrome 8 42 60
4p- syndrome 19 21 48
pitt rogers danks syndrome 42 20
4p deletion syndrome 8 21
distal deletion 4p 42 48
pitt syndrome 8 42
monosomy 4p 19 21
whs 42 21
microcephaly, iugr, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation 42
mental retardation, unusual facies, and intrauterine growth retardation 42
chromosome 4p16.3 deletion syndrome 8
chromosome 4p deletion syndrome 21
chromosome 4 short arm deletion 60
chromosome 4p syndrome 42
chromosome 4p monosomy 21
telomeric deletion 4p 48
partial monosomy 4p 21
chromosome deletion 60
distal monosomy 4p 48
del syndrome 21
4p syndrome 42
prds 42


External Ids:

Disease Ontology8 DOID:0050460
MeSH34 D054877
OMIM46 194190
MESH via Orphanet35 C536740, D054877
ICD10 via Orphanet26 Q93.3
SNOMED-CT via Orphanet57 17122004
UMLS via Orphanet61 C1956097
ICD1025 Q93.3

Related Diseases for Wolf-Hirschhorn Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Wolf-Hirschhorn Syndrome:



Diseases related to wolf-hirschhorn syndrome

Clinical Features for Wolf-Hirschhorn Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

194190

Symptoms:

48 (show all 79)
  • sclerocornea
  • megalocornea
  • proptosis/exophthalmos
  • retinopathy
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • renal/kidney anomalies
  • atrial septal defect/interauricular communication
  • delayed bone age
  • cardiac septal defect
  • congenital cardiac anomaly/malformation/cardiopathy
  • cardiac valvulopathy
  • diaphragmatic hernia/defect/agenesis
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • big toe anomaly (excluding absence)
  • foot anomalies
  • strabismus/squint
  • nystagmus
  • stillbirth/neonatal death
  • anomalies of the immunitary system
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • movement disorder
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • corpus callosum/septum pellucidum total/partial agenesis
  • structural anomalies of the genital system
  • repeat respiratory infections
  • gallbladder/common bile duct anomalies
  • situs inversus visceralis/colon/intestine trasposition/heterotaxia
  • long limbs/dolichostenomelia
  • structural anomalies of the kidney and the urinary tract
  • hypoplastic/absent nipples
  • chronic/relapsing otitis
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • herniae
  • talipes-varus/metatarsal varus
  • microcephaly
  • short philtrum
  • anodontia/oligodontia/hypodontia
  • low set ears/posteriorly rotated ears
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • high hair line (front)/widow peak
  • hypospadias/epispadias/bent penis
  • ataxia/incoordination/trouble of the equilibrium
  • hypotonia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • downturned mouth
  • anomalies of mouth, lip and philtrum
  • dolichocephaly/scaphocephaly
  • frontal bossing/prominent forehead
  • high forehead
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • micrognathia/retrognathia/micrognathism/retrognathism
  • high arched eyebrows
  • epicanthic folds
  • broad nose/nasal bridge
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • insterstitial/subtelomeric microdeletion/deletion
  • anomalies of spine, vertebrae and pelvis
  • kyphosis
  • scoliosis
  • abnormal vertebral size/shape
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • sacral sinus/dimple
  • anomalies of hands
  • long hand/arachnodactyly
  • thumb hypoplasia/aplasia/absence
  • rib number anomalies
  • anomalies of chest/thorax/trunk
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • fetal immobility/abnormal fetal movements
  • intrauterine growth retardation
  • scalp/skull defect
  • coloboma of iris
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • ptosis
  • cleft lip and palate
  • hearing loss/hypoacusia/deafness
  • thumb duplication/distal bifid thumb phalangeal bone

Drugs & Therapeutics for Wolf-Hirschhorn Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Wolf-Hirschhorn Syndrome

Genetic Tests for Wolf-Hirschhorn Syndrome

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20GeneTests
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Genetic tests related to Wolf-Hirschhorn Syndrome:

id Genetic test Affiliating Genes
1 Wolf-Hirschhorn Syndrome20
2 Pitt-Rogers-Danks Syndrome20

Anatomical Context for Wolf-Hirschhorn Syndrome

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32MalaCards
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MalaCards organs/tissues related to Wolf-Hirschhorn Syndrome:

32
Bone, Testes, Kidney, Eye, Lung, Colon, Cerebellum, Heart, Brain, T cells

Animal Models for Wolf-Hirschhorn Syndrome or affiliated genes

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Publications for Wolf-Hirschhorn Syndrome

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50PubMed
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Articles related to Wolf-Hirschhorn Syndrome:

(show top 50)    (show all 208)
idTitleAuthorsYear
1
Prenatal ultrasound findings observed in the Wolf-hirschhorn syndrome: Data from the registry of congenital malformations in auvergne. (24343879)
2013
2
Wolf-Hirschhorn syndrome: a historical note and comment on an older adult. (24326957)
2013
3
Inflammatory myofibroblastic bladder tumor in a patient with wolf-hirschhorn syndrome. (24024066)
2013
4
Diagnosis of familial Wolf-Hirschhorn syndrome due to a paternal cryptic chromosomal rearrangement by conventional and molecular cytogenetic techniques. (23484094)
2013
5
Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome. (22328085)
2012
6
Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome. (21792232)
2012
7
Epilepsy in a child with Wolf-Hirschhorn syndrome. (22338478)
2011
8
C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region, encodes a putative neuropeptide and is expressed during neocortex and cerebellar development. (21287218)
2011
9
Oral features in five adult patients with Wolf-Hirschhorn syndrome. (21709654)
2011
10
Clinical characterization and proposed mechanism of juvenile glaucoma--a patient with a chromosome 4p deletion, Wolf-Hirschhorn Syndrome. (20569021)
2010
11
Congenital diaphragmatic hernia and a complex heart defect in association with Wolf-Hirschhorn syndrome. (20830802)
2010
12
Congenital portosystemic shunt in a child with Wolf-Hirschhorn syndrome. (20683994)
2010
13
Distinctive EEG patterns in patients with Wolf-Hirschhorn syndrome. (19388145)
2009
14
A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome. (19483677)
2009
15
Ocular manifestations in Wolf-Hirschhorn syndrome. (19541266)
2009
16
Mouse models of Wolf-Hirschhorn syndrome. (18932126)
2008
17
Growth charts for Wolf-Hirschhorn syndrome (0-4 years of age). (17874131)
2008
18
Multiple hemangiomas in a patient with a t(3q;4p) translocation: an infrequent association with Wolf-Hirschhorn syndrome. (18076104)
2008
19
Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype. (18798325)
2008
20
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16. (17676343)
2007
21
Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital diaphragmatic hernia, cystic hygroma and IUGR. (16903248)
2006
22
Ultrasonographic findings of facial dysmorphism in Wolf-Hirschhorn syndrome. (15731989)
2005
23
The etiology of Wolf-Hirschhorn syndrome. (15734578)
2005
24
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map. (15342700)
2004
25
Malignant hematological disorders in children with Wolf-Hirschhorn syndrome. (12749063)
2003
26
Inv dup del(4)(:p14 --> p16.3::p16.3 --> qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome. (12794704)
2003
27
Choroid plexus cysts and oligohydramnios: presenting echographic signs in a female fetus with deletion of the Wolf-Hirschhorn syndrome region (4p16.3). (11837610)
2001
28
Unusual chromosomal mosaicism in Wolf-Hirschhorn syndrome: del(4)(p16)/der(4)(qter-q31.3::pter-qter). (11754044)
2001
29
Molecular and clinical characterization of a patient with a chromosome 4p deletion, Wolf-Hirschhorn syndrome, and congenital glaucoma. (11262648)
2001
30
First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation. (11252005)
2001
31
Prenatal diagnosis of a fetus with a cryptic translocation 4p;18p and Wolf-Hirschhorn syndrome (WHS). (10694689)
2000
32
Wolf-Hirschhorn syndrome (WHS): a history in pictures. (10649793)
2000
33
Health supervision and anticipatory guidance of individuals with Wolf-Hirschhorn syndrome. (10559766)
1999
34
Wolf-Hirschhorn syndrome. Review of the literature and three case studies. (9581437)
1998
35
Wolf-Hirschhorn syndrome with cryptic 4p16.3 deletion and balanced/unbalanced mosaicism in the mother. (9706336)
1998
36
A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat. (7897631)
1995
37
Clinical, cytogenetic and molecular investigations in three patients with Wolf-Hirschhorn syndrome. (1424245)
1992
38
A complex rearrangement associated with sex reversal and the Wolf-Hirschhorn syndrome: a cytogenetic and molecular study. (1619635)
1992
39
Familial Wolf-Hirschhorn syndrome associated with Rieger anomaly of the eye. (2348979)
1990
40
The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be implicated in Wolf-Hirschhorn syndrome. (1969845)
1990
41
Interstitial deletion of the short arm of chromosome 4. A phenotype distinct from the Wolf-Hirschhorn syndrome. (2751251)
1989
42
A histological study of the temporal bones and the nose in Wolf-Hirschhorn syndrome. (3675900)
1987
43
Unusual pathologic findings in a girl with Wolf-Hirschhorn syndrome, del (4p). (3822933)
1986
44
De novo del(4) (p15.32) with incomplete expression of the Wolf-Hirschhorn syndrome. (2427265)
1986
45
Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome. (2997623)
1985
46
A complex structural rearrangement of chromosome 4 in a woman without phenotypic features of Wolf-Hirschhorn syndrome. (4042400)
1985
47
Wolf-Hirschhorn syndrome owing to 1:3 segregation of a maternal 4;21 translocation. (4014316)
1985
48
The Wolf-Hirschhorn syndrome. New endocrine data. (3992159)
1985
49
Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)]. (6949855)
1981
50
4p- (Wolf-Hirschhorn) syndrome. (6773328)
1980

Genetic Variations for Wolf-Hirschhorn Syndrome

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Expression for genes affiliated with Wolf-Hirschhorn Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Wolf-Hirschhorn Syndrome

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Pathways for genes affiliated with Wolf-Hirschhorn Syndrome

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29KEGG, 53Reactome
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Pathways related to Wolf-Hirschhorn Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3WHSC1, WHSC1L1
2
Hide members
10.1SUPT4H1, SLBP, NELFA

Compounds for genes affiliated with Wolf-Hirschhorn Syndrome

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28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Wolf-Hirschhorn Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1l-lysine28 11 2412.3WHSC1, WHSC1L1

GO Terms for genes affiliated with Wolf-Hirschhorn Syndrome

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16Gene Ontology
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Biological processes related to Wolf-Hirschhorn Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of transcription elongation from RNA polymerase II promoterGO:03424410.1SUPT4H1, NELFA
2negative regulation of transcription from RNA polymerase II promoterGO:00012210.0WHSC1, SUPT4H1, MSX1, SALL4
3positive regulation of viral transcriptionGO:0504349.9SUPT4H1, NELFA

Molecular functions related to Wolf-Hirschhorn Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1histone-lysine N-methyltransferase activityGO:01802410.3WHSC1, WHSC1L1

Products for genes affiliated with Wolf-Hirschhorn Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Wolf-Hirschhorn Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet