MCID: WLF002
MIFTS: 51

Wolf-Hirschhorn Syndrome malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Wolf-Hirschhorn Syndrome

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Aliases & Descriptions for Wolf-Hirschhorn Syndrome:

Name: Wolf-Hirschhorn Syndrome 49 10 11 68 21 45 22 23 12 36 65
Pitt-Rogers-Danks Syndrome 10 45 22 65
4p- Syndrome 21 22 23
Monosomy 4p 21 22 23
4p Deletion Syndrome 10 23
Wittwer Syndrome 45 65
Pitt Syndrome 10 45
Wolf Syndrome 45 22
Whs 45 23
Prenatal and Postnatal Growth Retardation, Blindness, Hearing Loss, Dysmorphic Features, Epilepsy, Mental Retardation and Absence of Speech 45
Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation 45
Mental Retardation, Unusual Facies, and Intrauterine Growth Retardation 45
 
Chromosome 4p16.3 Deletion Syndrome 10
Chromosome 4 Short Arm Deletion 65
Chromosome 4p Deletion Syndrome 23
Pitt Rogers Danks Syndrome 45
Chromosome 4p Syndrome 45
Chromosome 4p Monosomy 23
Partial Monosomy 4p 23
Distal Deletion 4p 45
Del Syndrome 23
4p Syndrome 45
Wtrs 45
Prds 45

Characteristics:

HPO:

61
wolf-hirschhorn syndrome:
Inheritance: sporadic, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 194190
Disease Ontology10 DOID:0050460
ICD1027 Q93.3
SNOMED-CT59 17122004
MeSH36 D054877
NCIt42 C35528
UMLS65 C0796117, C1956097, C2931557 C0796202, more

Summaries for Wolf-Hirschhorn Syndrome

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NIH Rare Diseases:45 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 wieacker-wolff syndrome, and has symptoms including cognitive impairment, high anterior hairline and decreased muscle mass. An important gene associated with Wolf-Hirschhorn Syndrome is WHSC1 (Wolf-Hirschhorn Syndrome Candidate 1), and among its related pathways is Lysine degradation. Affiliated tissues include heart, brain and eye, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Genetics Home Reference:23 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:49 Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency,... (194190) more...

GeneReviews summary for NBK1183

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 139)
id Description Frequency HPO Source Accession
1 cognitive impairment hallmark (90%) HP:0100543
2 high anterior hairline hallmark (90%) HP:0009890
3 decreased muscle mass hallmark (90%) HP:0003199
4 downturned corners of mouth hallmark (90%) HP:0002714
5 highly arched eyebrow hallmark (90%) HP:0002553
6 eeg abnormality hallmark (90%) HP:0002353
7 incoordination hallmark (90%) HP:0002311
8 frontal bossing hallmark (90%) HP:0002007
9 small for gestational age hallmark (90%) HP:0001518
10 intrauterine growth retardation hallmark (90%) HP:0001511
11 generalized hypotonia hallmark (90%) HP:0001290
12 global developmental delay hallmark (90%) HP:0001263
13 seizures hallmark (90%) HP:0001250
14 downslanted palpebral fissures hallmark (90%) HP:0000494
15 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
16 high forehead hallmark (90%) HP:0000348
17 micrognathia hallmark (90%) HP:0000347
18 short philtrum hallmark (90%) HP:0000322
19 hypertelorism hallmark (90%) HP:0000316
20 epicanthus hallmark (90%) HP:0000286
21 dolichocephaly hallmark (90%) HP:0000268
22 microcephaly hallmark (90%) HP:0000252
23 severe postnatal growth retardation common (75%) HP:0008850
24 short stature common (75%) HP:0004322
25 failure to thrive common (75%) HP:0001508
26 seizures common (75%) HP:0001250
27 ptosis common (75%) HP:0000508
28 immunodeficiency 69% HP:0002721
29 aplasia/hypoplasia of the lungs typical (50%) HP:0006703
30 craniofacial asymmetry typical (50%) HP:0004484
31 preauricular pit typical (50%) HP:0004467
32 abnormal form of the vertebral bodies typical (50%) HP:0003312
33 kyphosis typical (50%) HP:0002808
34 delayed skeletal maturation typical (50%) HP:0002750
35 downturned corners of mouth typical (50%) HP:0002714
36 scoliosis typical (50%) HP:0002650
37 highly arched eyebrow typical (50%) HP:0002553
38 prominent glabella typical (50%) HP:0002057
39 abnormality of the heart valves typical (50%) HP:0001654
40 atria septal defect typical (50%) HP:0001631
41 skull defect typical (50%) HP:0001362
42 preaxial hand polydactyly typical (50%) HP:0001177
43 arachnodactyly typical (50%) HP:0001166
44 sacral dimple typical (50%) HP:0000960
45 congenital diaphragmatic hernia typical (50%) HP:0000776
46 hypodontia typical (50%) HP:0000668
47 optic atrophy typical (50%) HP:0000648
48 nystagmus typical (50%) HP:0000639
49 iris coloboma typical (50%) HP:0000612
50 rieger anomaly typical (50%) HP:0000558
51 ptosis typical (50%) HP:0000508
52 strabismus typical (50%) HP:0000486
53 convex nasal ridge typical (50%) HP:0000444
54 wide nasal bridge typical (50%) HP:0000431
55 stenosis of the external auditory canal typical (50%) HP:0000402
56 preauricular skin tag typical (50%) HP:0000384
57 abnormality of the pinna typical (50%) HP:0000377
58 high forehead typical (50%) HP:0000348
59 micrognathia typical (50%) HP:0000347
60 short philtrum typical (50%) HP:0000322
61 hypertelorism typical (50%) HP:0000316
62 epicanthus typical (50%) HP:0000286
63 microcephaly typical (50%) HP:0000252
64 short upper lip typical (50%) HP:0000188
65 abnormality of the kidney typical (50%) HP:0000077
66 hypospadias typical (50%) HP:0000047
67 cryptorchidism typical (50%) HP:0000028
68 conductive hearing impairment 40% HP:0000405
69 rib segmentation abnormalities frequent (33%) HP:0006655
70 abnormal form of the vertebral bodies frequent (33%) HP:0003312
71 kyphosis frequent (33%) HP:0002808
72 scoliosis frequent (33%) HP:0002650
73 talipes equinovarus frequent (33%) HP:0001762
74 hemangioma frequent (33%) HP:0001028
75 rib fusion frequent (33%) HP:0000902
76 stereotypic behavior frequent (33%) HP:0000733
77 proptosis frequent (33%) HP:0000520
78 iris coloboma 30% HP:0000612
79 atria septal defect 27% HP:0001631
80 sensorineural hearing impairment 15% HP:0000407
81 abnormality of movement occasional (7.5%) HP:0100022
82 short hallux occasional (7.5%) HP:0010109
83 short thumb occasional (7.5%) HP:0009778
84 aplasia cutis congenita of scalp occasional (7.5%) HP:0007385
85 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
86 aplasia/hypoplasia of the nipples occasional (7.5%) HP:0006709
87 abnormality of the gallbladder occasional (7.5%) HP:0005264
88 reduced bone mineral density occasional (7.5%) HP:0004349
89 abdominal situs inversus occasional (7.5%) HP:0003363
90 recurrent respiratory infections occasional (7.5%) HP:0002205
91 preaxial foot polydactyly occasional (7.5%) HP:0001841
92 disproportionate tall stature occasional (7.5%) HP:0001519
93 hip dysplasia occasional (7.5%) HP:0001385
94 agenesis of corpus callosum occasional (7.5%) HP:0001274
95 preaxial hand polydactyly occasional (7.5%) HP:0001177
96 split hand occasional (7.5%) HP:0001171
97 sclerocornea occasional (7.5%) HP:0000647
98 nystagmus occasional (7.5%) HP:0000639
99 proptosis occasional (7.5%) HP:0000520
100 retinopathy occasional (7.5%) HP:0000488
101 strabismus occasional (7.5%) HP:0000486
102 megalocornea occasional (7.5%) HP:0000485
103 otitis media occasional (7.5%) HP:0000388
104 cleft palate occasional (7.5%) HP:0000175
105 tethered cord rare (5%) HP:0002144
106 biliary tract abnormality rare (5%) HP:0001080
107 sacral dimple rare (5%) HP:0000960
108 single transverse palmar crease rare (5%) HP:0000954
109 webbed neck rare (5%) HP:0000465
110 hydrocephalus rare (5%) HP:0000238
111 aplasia of the uterus rare (5%) HP:0000151
112 abnormal sternal ossification HP:0011863
113 intellectual disability, severe HP:0010864
114 ectopia pupillae HP:0009918
115 pseudoepiphyses of the metacarpals HP:0009193
116 periventricular cysts HP:0007109
117 malrotation of small bowel HP:0004794
118 radioulnar synostosis HP:0002974
119 vertebral fusion HP:0002948
120 hip dislocation HP:0002827
121 delayed skeletal maturation HP:0002750
122 cavum septum pellucidum HP:0002389
123 low posterior hairline HP:0002162
124 ventriculomegaly HP:0002119
125 gastroesophageal reflux HP:0002020
126 metatarsus adductus HP:0001840
127 hyperconvex fingernails HP:0001812
128 accessory spleen HP:0001747
129 ventricular septal defect HP:0001629
130 decreased fetal movement HP:0001558
131 absent septum pellucidum HP:0001331
132 precocious puberty HP:0000826
133 cleft upper lip HP:0000204
134 cleft palate HP:0000175
135 small for gestational age HP:0001518
136 muscular hypotonia HP:0001252
137 seizures HP:0001250
138 intellectual disability HP:0001249
139 microcephaly HP:0000252

Drugs & Therapeutics for Wolf-Hirschhorn Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Wolf-Hirschhorn Syndrome


Cochrane evidence based reviews: 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 Syndrome22
2 Pitt-Rogers-Danks Syndrome22

Anatomical Context for Wolf-Hirschhorn Syndrome

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MalaCards organs/tissues related to Wolf-Hirschhorn Syndrome:

33
Heart, Brain, Eye, Lung, Bone, Breast, Kidney

Animal Models for Wolf-Hirschhorn Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Wolf-Hirschhorn Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.6CPLX1, FGFR3, MSX1, SALL4
2MP:00053828.4FGFR3, FGFRL1, MSX1, SALL4, WHSC1
3MP:00053818.1FGFR3, MSX1, SALL4, WFS1, WHSC1
4MP:00053867.3CPLX1, FGFR3, FGFRL1, MSX1, SALL4, WFS1
5MP:00053786.8CPLX1, FGFR3, FGFRL1, MSX1, SALL4, WFS1
6MP:00107686.7CPLX1, FGFR3, FGFRL1, MSX1, SALL4, WFS1

Publications for Wolf-Hirschhorn Syndrome

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Articles related to Wolf-Hirschhorn Syndrome:

(show top 50)    (show all 220)
idTitleAuthorsYear
1
Antiviral treatment for Bell's palsy (idiopathic facial paralysis). (26559436)
2015
2
Detection of Segmental Renal Ischemia by Diffusion-Weighted Magnetic Resonance Imaging: Clinical Utility for Diagnosis of Renovascular Hypertension. (26360321)
2015
3
SIRT7 Exhibits Oncogenic Potential in Human Ovarian Cancer Cells. (25921180)
2015
4
Successful treatment of ligneous conjunctivitis with topical fresh frozen plasma in an infant. (26466233)
2015
5
Native T1-mapping for non-contrast assessment of myocardial fibrosis in patients with hypertrophic cardiomyopathy - comparison with late enhancement quantification. (25863138)
2015
6
Activation of G protein-coupled estrogen receptor 1 (GPER-1) decreases fluid intake in female rats. (26093261)
2015
7
Development of a personalized decision aid for breast cancer risk reduction and management. (24422989)
2014
8
Detection of host-specific immunogenic proteins in the saliva of patients with oral squamous cell carcinoma. (24295181)
2014
9
Elastofibroma dorsi: Surgical indications and complications of a rare soft tissue tumor. (24772311)
2014
10
Genetic variation of a bacterial pathogen within individuals with cystic fibrosis provides a record of selective pressures. (24316980)
2014
11
Race, Otitis Media, and Antibiotic Selection. (25404720)
2014
12
CRP and SAP from different species have different membrane ligand specificities. (23600950)
2013
13
Video-assisted thoracoscopic thymectomy (VAT-T) with lateral thoracotomy for stage II and III thymoma. (22850091)
2013
14
Thrombotic thrombocytopenic purpura as initial and major presentation of multiple myeloma. (23397497)
2013
15
Angiogenic response to major lung resection for non-small cell lung cancer with video-assisted thoracic surgical and open access. (23024612)
2012
16
Fibroblast growth factor signaling potentiates VE-cadherin stability at adherens junctions by regulating SHP2. (22629427)
2012
17
Vaccination for leptospirosis improved the weaning percentage of 2-year-old farmed red deer hinds in New Zealand. (21660849)
2011
18
The effect of inertial loading on wrist kinetic tremor and rhythmic muscle activity in individuals with essential tremor. (21177141)
2011
19
Amino-terminal pro-brain natriuretic peptide as a prognostic marker in patients with rheumatoid arthritis. (21110214)
2011
20
Heat shock protein polymorphism predisposes to urinary tract malformations and renal transplantation in children. (20692469)
2010
21
Distinct Kinesin-14 mitotic mechanisms in spindle bipolarity. (19838064)
2009
22
Knockout of myeloid cell leukemia-1 induces liver damage and increases apoptosis susceptibility of murine hepatocytes. (19127517)
2009
23
In critically ill patients, B-type natriuretic peptide (BNP) and N-terminal pro-BNP levels correlate with C-reactive protein values and leukocyte counts. (17477984)
2008
24
COX-2/EGFR expression and survival among women with adenocarcinoma of the lung. (18453539)
2008
25
Long-term efficacy of octreotide in the prevention of recurrent bleeding from gastrointestinal angiodysplasia. (17311647)
2007
26
Identification of the transforming EML4-ALK fusion gene in non-small- cell lung cancer. (17625570)
2007
27
Perturbation of hyaluronan metabolism predisposes patients with type 1 diabetes mellitus to atherosclerosis. (17415544)
2007
28
Kidney function as a predictor of noncardiovascular mortality. (16251239)
2005
29
Towards mutation-independent silencing of genes involved in retinal degeneration by RNA interference. (15877050)
2005
30
Altered trafficking of Fas and subsequent resistance to Fas-mediated apoptosis occurs by a wild-type p53 independent mechanism in esophageal adenocarcinoma. (15680394)
2005
31
Cooperation of betulinic acid and TRAIL to induce apoptosis in tumor cells. (15361826)
2004
32
TrkA alternative splicing: a regulated tumor-promoting switch in human neuroblastoma. (15488758)
2004
33
Direct activation of the ATM protein kinase by the Mre11/Rad50/Nbs1 complex. (15064416)
2004
34
Folate concentration dependent transport activity of the Multidrug Resistance Protein 1 (ABCC1). (15041471)
2004
35
No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer. (12473176)
2002
36
Effect of acidic phospholipids on the structural properties of recombinant cytosolic human glyoxalase II. (12012344)
2002
37
The relationship between ovarian structure and serum insulin, insulin-like growth factor-I (IGF-I) and its binding protein (IGFBP-1 and IGFBP-3) levels in premature pubarche. (11826868)
2002
38
Serological cloning of a melanocyte rab guanosine 5'-triphosphate- binding protein and a chromosome condensation protein from a melanoma complementary DNA library. (10910072)
2000
39
Oxidative insult specifically decreases levels of a mitochondrial transcript. (10218653)
1999
40
Increased serum concentrations of human hepatocyte growth factor in proliferative diabetic retinopathy. (9435440)
1998
41
Cellular localization of endothelin-1 and increased production in liver injury in the rat: potential for autocrine and paracrine effects on stellate cells. (9462646)
1998
42
Expression of vascular endothelial growth factor at the human gastric ulcer margin and in cultured gastric fibroblasts: a new angiogenic factor for gastric ulcer healing. (9177300)
1997
43
Acute-phase response and the hypercoagulable state in pulmonary tuberculosis. (8703831)
1996
44
Iron-sulphur clusters as genetic regulatory switches: the bifunctional iron regulatory protein-1. (8682202)
1996
45
Molecular mechanism of colchicine action: induced local unfolding of beta-tubulin. (8257691)
1993
46
Immunological effects of flavone acetic acid. (2208107)
1990
47
An epidemiologic study of acute intermittent porphyria in Maheshwari community of Sri-Dungargarh municipal area. (2380134)
1990
48
Chorea-amyotrophy with chronic hemolytic anemia: a variant of chorea-amyotrophy with acanthocytosis. (3561776)
1987
49
Hypervitaminosis A in a child from megadosing. (3988928)
1985
50
ON COLOR BLINDNESS. (17736206)
1880

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

idSuper pathwaysScoreTop Affiliating Genes
19.9WHSC1, WHSC1L1

GO Terms for genes affiliated with Wolf-Hirschhorn Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1chromatin organizationGO:000632510.0WHSC1, WHSC1L1
2protein stabilizationGO:00508219.3MSX1, WFS1
3bone morphogenesisGO:00603499.3FGFR3, MSX1
4negative regulation of transcription from RNA polymerase II promoterGO:00001228.5MSX1, SALL4, WFS1, WHSC1

Sources for Wolf-Hirschhorn Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet