WHS
MCID: WLF002
MIFTS: 51

Wolf-Hirschhorn Syndrome (WHS) malady

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

Summaries for Wolf-Hirschhorn Syndrome

Sources:
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 wolf–hirschhorn syndrome and n syndrome, and has symptoms including microcephaly, dolichocephaly/scaphocephaly and frontal bossing/prominent forehead. 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 brain, heart and lung.

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

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic, Fetal
Anatomical: Neuronal, Eye, Ear, Smell/Taste


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 20 21 47 10 49 61
pitt-rogers-danks syndrome 8 43 61
4p- syndrome 19 21 49
pitt rogers danks syndrome 43 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 4p deletion syndrome 21
chromosome 4 short arm deletion 61
chromosome 4p syndrome 43
chromosome 4p monosomy 21
telomeric deletion 4p 49
partial monosomy 4p 21
chromosome deletion 61
distal monosomy 4p 49
del syndrome 21
4p syndrome 43
prds 43


External Ids:

Disease Ontology8 DOID:0050460
MeSH35 D054877
OMIM47 194190
MESH via Orphanet36 C536740, D054877
ICD10 via Orphanet26 Q93.3
SNOMED-CT via Orphanet58 17122004
UMLS via Orphanet62 C1956097
ICD1025 Q93.3

Related Diseases for Wolf-Hirschhorn Syndrome

Sources:
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

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

194190

Symptoms:

49 (show all 79)
  • microcephaly
  • 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
  • anomalies of mouth, lip and philtrum
  • downturned mouth
  • 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
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • insterstitial/subtelomeric microdeletion/deletion
  • 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
  • anomalies of chest/thorax/trunk
  • rib number anomalies
  • 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
  • thumb duplication/distal bifid thumb phalangeal bone
  • talipes-varus/metatarsal varus
  • foot anomalies
  • big toe anomaly (excluding absence)
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • diaphragmatic hernia/defect/agenesis
  • cardiac valvulopathy
  • congenital cardiac anomaly/malformation/cardiopathy
  • cardiac septal defect
  • atrial septal defect/interauricular communication
  • renal/kidney anomalies
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • delayed bone age
  • proptosis/exophthalmos
  • megalocornea
  • sclerocornea
  • retinopathy
  • strabismus/squint
  • nystagmus
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • chronic/relapsing otitis
  • hypoplastic/absent nipples
  • herniae
  • long limbs/dolichostenomelia
  • situs inversus visceralis/colon/intestine trasposition/heterotaxia
  • gallbladder/common bile duct anomalies
  • repeat respiratory infections
  • structural anomalies of the kidney and the urinary tract
  • structural anomalies of the genital system
  • corpus callosum/septum pellucidum total/partial agenesis
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • movement disorder
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • anomalies of the immunitary system
  • stillbirth/neonatal death

Drugs & Therapeutics for Wolf-Hirschhorn Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Wolf-Hirschhorn Syndrome

Drug clinical trials:

Search ClinicalTrials for Wolf-Hirschhorn Syndrome

Search NIH Clinical Center for Wolf-Hirschhorn Syndrome

Search CenterWatch for Wolf-Hirschhorn Syndrome

Genetic Tests for Wolf-Hirschhorn Syndrome

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Wolf-Hirschhorn Syndrome:

33
Brain, Heart, Lung, T cells

Animal Models for Wolf-Hirschhorn Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Wolf-Hirschhorn Syndrome

Sources:
51PubMed
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Articles related to Wolf-Hirschhorn Syndrome:

(show top 50)    (show all 208)
idTitleAuthorsYear
1
Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn syndrome. (23963300)
2013
2
Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports. (23227376)
2012
3
Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature. (22373435)
2012
4
Interstitial microdeletion of 4p16.3: contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome. (20358621)
2010
5
Wolf-Hirschhorn syndrome: diagnosis using hand radiograph performed for bone age. (20062983)
2010
6
Wolf-Hirschhorn syndrome and ectrodactyly: New findings and a review of the literature. (20034099)
2010
7
Case report: cytogenetic and molecular analysis of proximal interstitial deletion of 4p, review of the literature and comparison with wolf-hirschhorn syndrome. (20177142)
2010
8
Phenocopy of Wolf-Hirschhorn syndrome in a patient with duplication 12q13.3q14.1. (19215045)
2009
9
A short history of the initial discovery of the Wolf-Hirschhorn syndrome. (18932223)
2008
10
Bilateral microphthalmia with orbital cysts in Wolf-Hirschhorn syndrome. (18551766)
2008
11
Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision. (18932224)
2008
12
Seizure frequency in adults with Wolf-Hirschhorn syndrome. (18792972)
2008
13
The terminal 760 kb region on 4p16 is unlikely to be the critical interval for growth delay in Wolf-Hirschhorn syndrome. (18676804)
2008
14
Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH). (17873117)
2008
15
Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome. (17637805)
2007
16
Translocation form of Wolf-Hirschhorn syndrome --assessment of recurrence rate probability. (18229657)
2007
17
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome. (17911656)
2007
18
Microarray-based comparative genomic hybridization analysis of Wolf-Hirschhorn syndrome in a fetus with deletion of 4p15.3 to 4pter. (17022067)
2006
19
Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia. (16498629)
2006
20
Physical and developmental phenotype analyses in a boy with Wolf-Hirschhorn syndrome. (15844776)
2005
21
The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case. (15948183)
2005
22
Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype. (15966060)
2005
23
Duplication 4p and deletion 4p (Wolf-Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocation. (15316961)
2004
24
A study of EEG and epilepsy profile in Wolf-Hirschhorn syndrome and considerations regarding its correlation with other chromosomal disorders. (12767462)
2003
25
Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity. (12546710)
2003
26
Out-of-hospital management of benzodiazepine-resistant status epilepticus in a child with Wolf-Hirschhorn syndrome. (12875955)
2003
27
Genotype-phenotype correlations in Wolf-Hirschhorn syndrome. (11313750)
2001
28
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. (10995514)
2000
29
Vesicoureteric reflux associated with renal dysplasia in the Wolf-Hirschhorn syndrome. (10684366)
2000
30
Discrepancies in cytogenetic results between different tissues in two fetuses with Wolf- Hirschhorn syndrome. (11173862)
2000
31
LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients. (10486213)
1999
32
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
33
Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks syndrome. (9489803)
1998
34
Taurodontism, an unreported dental finding in Wolf-Hirschhorn (4p-) syndrome. (9795740)
1998
35
De novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, and partial hemihypoplasia. (9863609)
1998
36
Wolf-Hirschhorn syndrome and a split-hand malformation. (9482640)
1998
37
High resolution characterization of an interstitial deletion of less than 1.9 Mb at 4p16.3 associated with Wolf-Hirschhorn syndrome. (9286454)
1997
38
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
39
The Wolf-Hirschhorn syndrome in adulthood: evaluation of a 24-year-old man with a rec(4) chromosome. (8911603)
1996
40
Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome. (8957525)
1996
41
Familial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study. (8728691)
1996
42
Twenty-seven-year follow-up in the Wolf-Hirschhorn syndrome. (7762586)
1995
43
A zinc-finger gene ZNF141 mapping at 4p16.3/D4S90 is a candidate gene for the Wolf-Hirschhorn (4p-) syndrome. (8268908)
1993
44
A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation. (1640422)
1992
45
Molecular analysis of 4p deletion associated with Wolf-Hirschhorn syndrome moving the "critical segment" towards the telomere. (2016087)
1991
46
Malignant hyperthermia in the Wolf-Hirschhorn syndrome. (2757162)
1989
47
Malignant hyperthermia in the Wolf-Hirschhorn syndrome. (3400848)
1988
48
The Wolf-Hirschhorn syndrome. Deletion of the short arm of chromosome 4. (495091)
1979
49
Wolf-Hirschhorn syndrome and balanced (4;10) translocation in the father. (891010)
1977
50
Wolf-Hirschhorn syndrome associated with an unusual abnormality of chromosome no. 4. (5519605)
1970

Genetic Variations for Wolf-Hirschhorn Syndrome

Expression for genes affiliated with Wolf-Hirschhorn Syndrome

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

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

Pathways for genes affiliated with Wolf-Hirschhorn Syndrome

Sources:
30KEGG, 54Reactome
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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

Sources:
29IUPHAR, 11DrugBank, 24HMDB
See all sources

Compounds related to Wolf-Hirschhorn Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1l-lysine29 11 2412.3WHSC1, WHSC1L1

GO Terms for genes affiliated with Wolf-Hirschhorn Syndrome

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Wolf-Hirschhorn Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet