MCID: WLF002
MIFTS: 49

Wolf-Hirschhorn Syndrome malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Wolf-Hirschhorn Syndrome

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Wolf-Hirschhorn Syndrome, Aliases & Descriptions:

Name: Wolf-Hirschhorn Syndrome 45 9 10 63 19 41 20 21 11 60
Pitt-Rogers-Danks Syndrome 9 41 60
4p- Syndrome 19 41 21
Pitt Rogers Danks Syndrome 41 20
4p Deletion Syndrome 9 21
Pitt Syndrome 9 41
Monosomy 4p 19 21
Whs 41 21
Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation 41
Mental Retardation, Unusual Facies, and Intrauterine Growth Retardation 41
Intellectual Disability - Dysmorphism - Intrauterine Growth Retardation 41
Chromosome 4p16.3 Deletion Syndrome 9
 
Chromosome 4 Short Arm Deletion 60
Chromosome 4p Deletion Syndrome 21
Chromosome 4p Syndrome 41
Chromosome 4p Monosomy 21
Telomeric Deletion 4p 41
Partial Monosomy 4p 21
Distal Deletion 4p 41
Distal Monosomy 4p 41
Wolf Syndrome 41
Del Syndrome 21
4p Syndrome 41
Prds 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


External Ids:

OMIM45 194190
Disease Ontology9 DOID:0050460
MeSH33 D054877
ICD1025 Q93.3

Summaries for Wolf-Hirschhorn Syndrome

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NIH Rare Diseases:41 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 congenital diaphragmatic hernia, and has symptoms including global developmental delay, generalized hypotonia and intrauterine growth retardation. An important gene associated with Wolf-Hirschhorn Syndrome is WHSC1 (Wolf-Hirschhorn syndrome candidate 1). Affiliated tissues include brain, heart and eye, and related mouse phenotypes are digestive/alimentary 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.

OMIM:45 Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency,... (194190) more...

GeneReviews summary for whs

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

HPO human phenotypes related to Wolf-Hirschhorn Syndrome:

(show all 93)
id Description Frequency HPO Source Accession
1 global developmental delay hallmark (90%) HP:0001263
2 generalized hypotonia hallmark (90%) HP:0001290
3 intrauterine growth retardation hallmark (90%) HP:0001511
4 small for gestational age hallmark (90%) HP:0001518
5 eeg abnormality hallmark (90%) HP:0002353
6 decreased muscle mass hallmark (90%) HP:0003199
7 ptosis common (75%) HP:0000508
8 seizures common (75%) HP:0001250
9 failure to thrive common (75%) HP:0001508
10 short stature common (75%) HP:0004322
11 severe postnatal growth retardation common (75%) HP:0008850
12 immunodeficiency 69% HP:0002721
13 cryptorchidism typical (50%) HP:0000028
14 hypospadias typical (50%) HP:0000047
15 short upper lip typical (50%) HP:0000188
16 microcephaly typical (50%) HP:0000252
17 epicanthus typical (50%) HP:0000286
18 hypertelorism typical (50%) HP:0000316
19 short philtrum typical (50%) HP:0000322
20 micrognathia typical (50%) HP:0000347
21 high forehead typical (50%) HP:0000348
22 abnormality of the pinna typical (50%) HP:0000377
23 preauricular skin tag typical (50%) HP:0000384
24 stenosis of the external auditory canal typical (50%) HP:0000402
25 wide nasal bridge typical (50%) HP:0000431
26 convex nasal ridge typical (50%) HP:0000444
27 strabismus typical (50%) HP:0000486
28 rieger anomaly typical (50%) HP:0000558
29 nystagmus typical (50%) HP:0000639
30 hypodontia typical (50%) HP:0000668
31 prominent glabella typical (50%) HP:0002057
32 highly arched eyebrow typical (50%) HP:0002553
33 downturned corners of mouth typical (50%) HP:0002714
34 preauricular pit typical (50%) HP:0004467
35 craniofacial asymmetry typical (50%) HP:0004484
36 conductive hearing impairment 40% HP:0000405
37 proptosis frequent (33%) HP:0000520
38 stereotypic behavior frequent (33%) HP:0000733
39 rib fusion frequent (33%) HP:0000902
40 hemangioma frequent (33%) HP:0001028
41 talipes equinovarus frequent (33%) HP:0001762
42 scoliosis frequent (33%) HP:0002650
43 kyphosis frequent (33%) HP:0002808
44 abnormal form of the vertebral bodies frequent (33%) HP:0003312
45 rib segmentation abnormalities frequent (33%) HP:0006655
46 iris coloboma 30% HP:0000612
47 defect in the atrial septum 27% HP:0001631
48 sensorineural hearing impairment 15% HP:0000407
49 split hand occasional (7.5%) HP:0001171
50 preaxial hand polydactyly occasional (7.5%) HP:0001177
51 agenesis of corpus callosum occasional (7.5%) HP:0001274
52 hip dysplasia occasional (7.5%) HP:0001385
53 preaxial foot polydactyly occasional (7.5%) HP:0001841
54 aplasia cutis congenita of scalp occasional (7.5%) HP:0007385
55 short thumb occasional (7.5%) HP:0009778
56 short hallux occasional (7.5%) HP:0010109
57 aplasia of the uterus rare (5%) HP:0000151
58 hydrocephalus rare (5%) HP:0000238
59 webbed neck rare (5%) HP:0000465
60 single transverse palmar crease rare (5%) HP:0000954
61 sacral dimple rare (5%) HP:0000960
62 biliary tract abnormality rare (5%) HP:0001080
63 tethered cord rare (5%) HP:0002144
64 microcephaly HP:0000252
65 intellectual disability HP:0001249
66 seizures HP:0001250
67 muscular hypotonia HP:0001252
68 small for gestational age HP:0001518
69 autosomal dominant inheritance HP:0000006
70 cleft palate HP:0000175
71 cleft upper lip HP:0000204
72 precocious puberty HP:0000826
73 absent septum pellucidum HP:0001331
74 decreased fetal movement HP:0001558
75 ventricular septal defect HP:0001629
76 accessory spleen HP:0001747
77 hyperconvex fingernails HP:0001812
78 metatarsus adductus HP:0001840
79 gastroesophageal reflux HP:0002020
80 ventriculomegaly HP:0002119
81 low posterior hairline HP:0002162
82 cavum septum pellucidum HP:0002389
83 delayed skeletal maturation HP:0002750
84 hip dislocation HP:0002827
85 vertebral fusion HP:0002948
86 radioulnar synostosis HP:0002974
87 sporadic HP:0003745
88 malrotation of small bowel HP:0004794
89 periventricular cysts HP:0007109
90 pseudoepiphyses of the metacarpals HP:0009193
91 ectopia pupillae HP:0009918
92 intellectual disability, severe HP:0010864
93 abnormal sternal ossification HP:0011863

Drugs & Therapeutics for Wolf-Hirschhorn Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for 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 Syndrome20
2 Pitt-Rogers-Danks Syndrome20

Anatomical Context for Wolf-Hirschhorn Syndrome

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MalaCards organs/tissues related to Wolf-Hirschhorn Syndrome:

31
Brain, Heart, Eye, Spleen, Skin, Uterus, Bone, Lung, T cells

Animal Models for Wolf-Hirschhorn Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Wolf-Hirschhorn Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.9WHSC1, MSX1, SALL4
2MP:00053828.5FGFRL1, WHSC1, MSX1, SALL4
3MP:00053908.5FGFRL1, WHSC1, MSX1, SALL4
4MP:00053808.5MSX1, FGFRL1, SALL4
5MP:00053858.5SALL4, MSX1, WHSC1, FGFRL1
6MP:00107688.4FGFRL1, MSX1, SALL4, WHSC1
7MP:00053788.3SALL4, MSX1, WHSC1, FGFRL1

Publications for Wolf-Hirschhorn Syndrome

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Articles related to Wolf-Hirschhorn Syndrome:

(show top 50)    (show all 211)
idTitleAuthorsYear
1
Atypical Varicella in a Patient With Wolf-Hirschhorn Syndrome. (25673626)
2015
2
LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition. (24626991)
2014
3
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. (24243641)
2014
4
109a88kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome. (23637096)
2013
5
Prenatal ultrasound findings observed in the Wolf-hirschhorn syndrome: Data from the registry of congenital malformations in auvergne. (24343879)
2013
6
Pediatric diagnosis not made until adulthood: a case of Wolf-Hirschhorn syndrome. (23064045)
2013
7
Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis. (23706772)
2013
8
Wolf-Hirschhorn syndrome: a historical note and comment on an older adult. (24326957)
2013
9
Lung tumor-associated dendritic cell-derived resistin promoted cancer progression by increasing Wolf-Hirschhorn syndrome candidate 1/Twist pathway. (23955539)
2013
10
Three patients with Wolf-Hirschhorn syndrome carrying a satellited chromosome 4p. (22641563)
2012
11
Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports. (23227376)
2012
12
Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome. (22328085)
2012
13
Wolf-Hirschhorn syndrome candidate 1 is involved in the cellular response to DNA damage. (21788515)
2011
14
Epilepsy in a child with Wolf-Hirschhorn syndrome. (22338478)
2011
15
Clinical characterization and proposed mechanism of juvenile glaucoma--a patient with a chromosome 4p deletion, Wolf-Hirschhorn Syndrome. (20569021)
2010
16
Interstitial microdeletion of 4p16.3: contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome. (20358621)
2010
17
Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice. (19383940)
2009
18
Distinctive EEG patterns in patients with Wolf-Hirschhorn syndrome. (19388145)
2009
19
On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review. (18932124)
2008
20
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
21
A short history of the initial discovery of the Wolf-Hirschhorn syndrome. (18932223)
2008
22
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16. (17676343)
2007
23
Microarray-based comparative genomic hybridization analysis of Wolf-Hirschhorn syndrome in a fetus with deletion of 4p15.3 to 4pter. (17022067)
2006
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
4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype. (15580214)
2004
29
LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein. (14706454)
2004
30
A study of EEG and epilepsy profile in Wolf-Hirschhorn syndrome and considerations regarding its correlation with other chromosomal disorders. (12767462)
2003
31
Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity. (12546710)
2003
32
An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality. (11584045)
2001
33
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
34
Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndrome. (11173835)
2000
35
"Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype. (10069706)
1999
36
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
37
An unusual chromosome rearrangement in a patient with features of the Wolf-Hirschhorn syndrome. (9584686)
1998
38
Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks syndrome. (9489803)
1998
39
A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. (9063753)
1997
40
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
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
Molecular detection of a 4p deletion using PCR-based polymorphisms: a technique for the rapid detection of the Wolf-Hirschhorn syndrome. (1442886)
1992
46
Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome. (1552546)
1992
47
Prenatal diagnosis of cystic hygroma and chorioangioma in the Wolf-Hirschhorn syndrome. (2062819)
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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Search GEO for disease gene expression data for Wolf-Hirschhorn Syndrome.

Pathways for genes affiliated with Wolf-Hirschhorn Syndrome

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Compounds for genes affiliated with Wolf-Hirschhorn Syndrome

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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
1cytoplasmGO:00057378.1SLBP, WHSC1, MSX1, SALL4

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell proliferationGO:00082859.4FGFRL1, MSX1
2negative regulation of transcription from RNA polymerase II promoterGO:00001228.6WHSC1, MSX1, SALL4

Products for genes affiliated with Wolf-Hirschhorn Syndrome

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Sources for Wolf-Hirschhorn Syndrome

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25ICD10
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