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

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, Brain, Heart, 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
Microarray analysis of unbalanced translocation in Wolf-Hirschhorn syndrome. (23782367)
2013
2
A case of wolf-hirschhorn syndrome and hypoplastic left heart syndrome. (22639003)
2013
3
Letm1, the mitochondrial Ca2+/H+ antiporter, is essential for normal glucose metabolism and alters brain function in Wolf-Hirschhorn syndrome. (23716663)
2013
4
Three patients with Wolf-Hirschhorn syndrome carrying a satellited chromosome 4p. (22641563)
2012
5
A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome. (22438245)
2012
6
Wolf-Hirschhorn syndrome: A case demonstrated by a cytogenetic study. (22754235)
2012
7
Histone lysine methyltransferase Wolf-Hirschhorn syndrome candidate 1 is involved in human carcinogenesis through regulation of the Wnt pathway. (22028615)
2011
8
Diagnosis and fine localization of deletion region in Wolf-Hirschhorn syndrome patients. (20819625)
2010
9
Cognitive-behavioral features of Wolf-Hirschhorn syndrome and other subtelomeric microdeletions. (20981770)
2010
10
Wolf-Hirschhorn syndrome with improvement of renal function. (20425837)
2010
11
Tethered cord, corpus callosum abnormalities, and periventricular cysts in Wolf-Hirschhorn syndrome. Report of two cases and review of the literature. (19764025)
2009
12
LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability. (17925330)
2008
13
Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf-Hirschhorn syndrome. (18074389)
2008
14
Seizure frequency in adults with Wolf-Hirschhorn syndrome. (18792972)
2008
15
Cognitive-behavioral features of children with Wolf-Hirschhorn syndrome: preliminary report of 12 cases. (18932225)
2008
16
Brain magnetic resonance imaging in Wolf-Hirschhorn syndrome. (17607600)
2007
17
Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies. (16470698)
2006
18
The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case. (15948183)
2005
19
4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype. (15580214)
2004
20
Speech and language in Wolf-Hirschhorn syndrome: a case-study. (15013377)
2004
21
Ophthalmic manifestations of Wolf-Hirschhorn syndrome. (15314595)
2004
22
Wolf-Hirschhorn syndrome with posterior intraorbital coloboma cyst: an unusual case. (15030910)
2004
23
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome. (15241479)
2004
24
MSX1 gene is deleted in Wolf-Hirschhorn syndrome patients with oligodontia. (14630905)
2003
25
Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. (12563561)
2003
26
Genetic determination of Wolf-Hirschhorn syndrome ]. (12715353)
2002
27
An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality. (11584045)
2001
28
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
29
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. (10995514)
2000
30
Vesicoureteric reflux associated with renal dysplasia in the Wolf-Hirschhorn syndrome. (10684366)
2000
31
A second case of inv(4)pat with both recombinants in the offspring: rec dup(4q) in a girl with Wolf-Hirschhorn syndrome and rec dup(4p). (11173836)
2000
32
Wolf-Hirschhorn syndrome due to a 3:1 segregation of a maternal balanced t(4;15)(p16.3;q11) translocation. (11038468)
2000
33
"Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype. (10069706)
1999
34
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
35
Taurodontism, an unreported dental finding in Wolf-Hirschhorn (4p-) syndrome. (9795740)
1998
36
Otologic manifestations of Wolf-Hirschhorn syndrome. (9485112)
1998
37
Antibody deficiency in Wolf-Hirschhorn syndrome. (9672528)
1998
38
Wolf-Hirschhorn syndrome: case report and review of the chromosomal aberrations associated with diaphragmatic defects. (9774859)
1998
39
WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. (9618163)
1998
40
High resolution characterization of an interstitial deletion of less than 1.9 Mb at 4p16.3 associated with Wolf-Hirschhorn syndrome. (9286454)
1997
41
Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome. (8182713)
1994
42
Wolf-Hirschhorn Syndrome (20301362)
1993
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
Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome. (1552546)
1992
46
Malignant hyperthermia in the Wolf-Hirschhorn syndrome. (2757162)
1989
47
The Wolf-Hirschhorn syndrome. Deletion of the short arm of chromosome 4. (495091)
1979
48
On the deletion 4p16 Wolf-Hirschhorn syndrome. (317787)
1979
49
Wolf-Hirschhorn syndrome and balanced (4;10) translocation in the father. (891010)
1977
50
Wolf-Hirschhorn syndrome. (5575893)
1971

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
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  • Lysates
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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