WHS
MCID: WLF002
MIFTS: 59

Wolf-Hirschhorn Syndrome (WHS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Ear diseases, Fetal diseases categories
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Summaries for Wolf-Hirschhorn Syndrome

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21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 chromosome 4p deletion 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 Formation of RNA Pol II elongation complex and Lysine degradation. The compounds s-adenosylmethionine and l-lysine have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and kidney, and related mouse phenotypes are skeleton and craniofacial.

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:47 194190

GeneReviews summary for whs

Aliases & Classifications for Wolf-Hirschhorn Syndrome

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8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 62UMLS, 65Wikipedia, 20GeneTests, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

49
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 43 21 47 10 49 62
pitt-rogers-danks syndrome 8 43 62
4p- syndrome 19 21 49
pitt rogers danks syndrome 43 20
wolf–hirschhorn syndrome 65 20
4p deletion syndrome 8 21
distal deletion 4p 43 49
pitt syndrome 8 43
monosomy 4p 19 21
whs 43 21
microcephaly, iugr, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation 43
mental retardation, unusual facies, and intrauterine growth retardation 43
chromosome 4p16.3 deletion syndrome 8
chromosome 4 short arm deletion 62
chromosome 4p deletion syndrome 21
chromosome 4p syndrome 43
chromosome 4p monosomy 21
telomeric deletion 4p 49
chromosome deletion 62
partial monosomy 4p 21
distal monosomy 4p 49
wolf syndrome 43
del syndrome 21
4p syndrome 43
prds 43


External Ids:

Disease Ontology8 DOID:0050460
OMIM47 194190
MeSH35 D054877
MESH via Orphanet36 C536740, D054877
ICD10 via Orphanet26 Q93.3
SNOMED-CT via Orphanet59 17122004
UMLS via Orphanet63 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

Symptoms for Wolf-Hirschhorn Syndrome

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47OMIM, 49Orphanet
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Clinical features from OMIM:

194190

Symptoms:

49 (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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Wolf-Hirschhorn Syndrome

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Wolf-Hirschhorn Syndrome:

33
Bone, Testes, Kidney, Eye, Lung, Colon, Cerebellum, Heart, Brain, T cells

Animal Models for Wolf-Hirschhorn Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Wolf-Hirschhorn Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.9FGFRL1, WHSC1, MSX1, SALL4
2MP:00053828.6FGFRL1, WHSC1, MSX1, SALL4

Publications for Wolf-Hirschhorn Syndrome

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52PubMed
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Articles related to Wolf-Hirschhorn Syndrome:

(show top 50)    (show all 201)
idTitleAuthorsYear
1
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. (24243641)
2014
2
109a88kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome. (23637096)
2013
3
Prenatal ultrasound findings observed in the Wolf-hirschhorn syndrome: Data from the registry of congenital malformations in auvergne. (24343879)
2013
4
Pediatric diagnosis not made until adulthood: a case of Wolf-Hirschhorn syndrome. (23064045)
2013
5
Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis. (23706772)
2013
6
Wolf-Hirschhorn syndrome: a historical note and comment on an older adult. (24326957)
2013
7
Lung tumor-associated dendritic cell-derived resistin promoted cancer progression by increasing Wolf-Hirschhorn syndrome candidate 1/Twist pathway. (23955539)
2013
8
Three patients with Wolf-Hirschhorn syndrome carrying a satellited chromosome 4p. (22641563)
2012
9
Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports. (23227376)
2012
10
Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome. (22328085)
2012
11
Wolf-Hirschhorn syndrome candidate 1 is involved in the cellular response to DNA damage. (21788515)
2011
12
Epilepsy in a child with Wolf-Hirschhorn syndrome. (22338478)
2011
13
Clinical characterization and proposed mechanism of juvenile glaucoma--a patient with a chromosome 4p deletion, Wolf-Hirschhorn Syndrome. (20569021)
2010
14
Interstitial microdeletion of 4p16.3: contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome. (20358621)
2010
15
Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice. (19383940)
2009
16
Distinctive EEG patterns in patients with Wolf-Hirschhorn syndrome. (19388145)
2009
17
On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review. (18932124)
2008
18
Prenatal diagnosis of concomitant Wolf-Hirschhorn syndrome and split hand-foot malformation associated with partial monosomy 4p (4p16.1-->pter) and partial trisomy 10q (10q25.1-->qter). (18395879)
2008
19
A short history of the initial discovery of the Wolf-Hirschhorn syndrome. (18932223)
2008
20
Bilateral microphthalmia with orbital cysts in Wolf-Hirschhorn syndrome. (18551766)
2008
21
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16. (17676343)
2007
22
Microarray-based comparative genomic hybridization analysis of Wolf-Hirschhorn syndrome in a fetus with deletion of 4p15.3 to 4pter. (17022067)
2006
23
Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital diaphragmatic hernia, cystic hygroma and IUGR. (16903248)
2006
24
Oligomeganephronia in Wolf-Hirschhorn Syndrome. (17079842)
2006
25
Ultrasonographic findings of facial dysmorphism in Wolf-Hirschhorn syndrome. (15731989)
2005
26
4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype. (15580214)
2004
27
LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein. (14706454)
2004
28
A study of EEG and epilepsy profile in Wolf-Hirschhorn syndrome and considerations regarding its correlation with other chromosomal disorders. (12767462)
2003
29
Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity. (12546710)
2003
30
An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality. (11584045)
2001
31
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
32
Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndrome. (11173835)
2000
33
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. (10995514)
2000
34
"Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype. (10069706)
1999
35
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
36
An unusual chromosome rearrangement in a patient with features of the Wolf-Hirschhorn syndrome. (9584686)
1998
37
Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks syndrome. (9489803)
1998
38
A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. (9063753)
1997
39
On two patients with and without the classical Wolf-Hirschhorn syndrome (WHS) sharing the same chromosome 4p16.3 specific probe deletion: evidence of a contiguous gene deletion syndrome. (8891381)
1996
40
A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat. (7897631)
1995
41
Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome. (8182713)
1994
42
A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation. (1640422)
1992
43
Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome. (1379774)
1992
44
Molecular detection of a 4p deletion using PCR-based polymorphisms: a technique for the rapid detection of the Wolf-Hirschhorn syndrome. (1442886)
1992
45
Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome. (1552546)
1992
46
Prenatal diagnosis of cystic hygroma and chorioangioma in the Wolf-Hirschhorn syndrome. (2062819)
1991
47
Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. (1746553)
1991
48
Familial Wolf-Hirschhorn syndrome associated with Rieger anomaly of the eye. (2348979)
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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Expression for genes affiliated with Wolf-Hirschhorn Syndrome

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2BioGPS, 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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50PathCards, 55Reactome, 38NCBI BioSystems Database, 30KEGG
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Compounds for genes affiliated with Wolf-Hirschhorn Syndrome

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45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR
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Compounds related to Wolf-Hirschhorn Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1s-adenosylmethionine45 24 1111.5WHSC1L1, WHSC1
2l-lysine29 24 1111.4WHSC1L1, WHSC1
3s-adenosylhomocysteine45 2410.2WHSC1L1, WHSC1

GO Terms for genes affiliated with Wolf-Hirschhorn Syndrome

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16Gene Ontology
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Cellular components related to Wolf-Hirschhorn Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chromosomeGO:0056949.2WHSC1L1, WHSC1
2nucleusGO:0056348.0SLBP, WHSC1L1, WHSC1, MSX1, SALL4, NELFA

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of transcription from RNA polymerase II promoterGO:0001229.4WHSC1, MSX1, SALL4

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

idNameGO IDScoreTop Affiliating Genes
1histone-lysine N-methyltransferase activityGO:0180249.5WHSC1L1, WHSC1

Products for genes affiliated with Wolf-Hirschhorn Syndrome

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  • Antibodies
  • Proteins
  • Lysates
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Sources for Wolf-Hirschhorn Syndrome

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4CDC
13ExPASy
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24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet