eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| wolf hirschhorn syndrome | ||||
| Disease ID | 585 |
|---|---|
| Disease | wolf hirschhorn syndrome |
| Definition | A syndrome caused by large deletions of the telomereic end of the short arm of CHROMOSOME 4 (4p) in Wolf-Hirchhorn syndrome critial regions (WHSCRs). Several candidate genes have been identified including WHSC1 and WHSCH2 which appear to be responsible for the core phenotype and in combination with other linked and unlinked genes determine the severity and inclusion of rarer phenotypes. Most cases have a characteristic cranio-facial defect often referred to as "Greek helmet face" - a combined result of MICROCEPHALY, broad forehead, prominent glabella, HYPERTELORISM, high arched eyebrows, short philtrum and micrognathia. In addition there is mental retardation, growth delays, EPILEPSY, and frequently a wide range of midline and skeletal defects, including HYPOSPADIAS; CONGENITAL HEART DEFECTS; CLEFT LIP; CLEFT PALATE; colobomata; CLUBFOOT; clinodactyly; SCOLIOSIS; and KYPHOSIS. |
| Synonym | 4p deletion syndrome 4p minus syndrome 4p partial monosomy syndrome 4p partial monosomy syndrome (disorder) 4p syndrome 4p syndrome, chromosome 4p syndromes, chromosome 4p- syndrome chromosome 4 short arm deletion syndrome chromosome 4p deletion syndrome chromosome 4p monosomy chromosome 4p syndrome chromosome 4p syndromes chromosome 4p16.3 deletion syndrome del(4p) syndrome deletion 4p syndrome deletion of short arm of chromosome 4 midline fusion defect syndrome monosomy 4p partial monosomy 4p syndrome wolfs syndrome, chromosome 4p syndrome, wolf syndrome, wolf-hirchhorn syndrome, wolf-hirschhorn syndromes wolf syndromes, chromosome 4p whs - wolf-hirschhorn syndrome whs - wolff-hirschorn syndrome wolf hirchhorn syndrome wolf hirschhorn syndrome (disorder) wolf syndrome wolf-hirchhorn syndrome wolf-hirschhorn syndrome wolf-hirschhorn syndrome [disease/finding] wolff-hirschhorn syndrome wolff-hirschorn syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C1956097 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0206669 | hepatic adenoma | 1 C0014544 | epilepsy | 1 C0008049 | varicella | 1 C1956097 | wolf-hirschhorn syndrome | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:58) 34 | ACADM | 3.062 | DISEASES 617 | BCS1L | 1.286 | DISEASES 401115 | C4orf48 | 4.621 | DISEASES 1029 | CDKN2A | 4.468 | DISEASES 57680 | CHD8 | 2.489 | DISEASES 9946 | CRYZL1 | 2.576 | DISEASES 9228 | DLGAP2 | 3.002 | DISEASES 2081 | ERN1 | 1.499 | DISEASES 2159 | F10 | 1.421 | DISEASES 8603 | FAM193A | 4.172 | DISEASES 2261 | FGFR3 | 3.596 | DISEASES 2868 | GRK4 | 2.656 | DISEASES 8359 | HIST1H4A | 1.204 | DISEASES 8366 | HIST1H4B | 1.204 | DISEASES 8364 | HIST1H4C | 1.204 | DISEASES 8360 | HIST1H4D | 1.203 | DISEASES 8367 | HIST1H4E | 1.204 | DISEASES 8361 | HIST1H4F | 1.204 | DISEASES 8294 | HIST1H4I | 1.204 | DISEASES 8363 | HIST1H4J | 1.204 | DISEASES 8362 | HIST1H4K | 1.204 | DISEASES 8368 | HIST1H4L | 1.204 | DISEASES 8370 | HIST2H4A | 1.204 | DISEASES 554313 | HIST2H4B | 1.204 | DISEASES 121504 | HIST4H4 | 1.204 | DISEASES 10989 | IMMT | 3.731 | DISEASES 137994 | LETM2 | 4.659 | DISEASES 55203 | LGI2 | 2.945 | DISEASES 4043 | LRPAP1 | 2.178 | DISEASES 90550 | MCU | 1.924 | DISEASES 10227 | MFSD10 | 3.087 | DISEASES 10367 | MICU1 | 2.157 | DISEASES 64979 | MRPL36 | 1.852 | DISEASES 4487 | MSX1 | 4.04 | DISEASES 4508 | MT-ATP6 | 1.468 | DISEASES 4519 | MT-CYB | 2.621 | DISEASES 1482 | NKX2-5 | 1.221 | DISEASES 64324 | NSD1 | 3.558 | DISEASES 3516 | RBPJ | 2.352 | DISEASES 5991 | RFX3 | 3.109 | DISEASES 6303 | SAT1 | 1.615 | DISEASES 6324 | SCN1B | 1.98 | DISEASES 29072 | SETD2 | 2.295 | DISEASES 6452 | SH3BP2 | 2.107 | DISEASES 7884 | SLBP | 3.147 | DISEASES 26503 | SLC17A5 | 2.385 | DISEASES 63027 | SLC22A23 | 3.77 | DISEASES 6736 | SRY | 1.419 | DISEASES 57620 | STIM2 | 2.457 | DISEASES 6829 | SUPT5H | 3.402 | DISEASES 6867 | TACC1 | 2.593 | DISEASES 10460 | TACC3 | 2.037 | DISEASES 6890 | TAP1 | 2.535 | DISEASES 79155 | TNIP2 | 3.015 | DISEASES 7158 | TP53BP1 | 2.22 | DISEASES 7337 | UBE3A | 1.17 | DISEASES 677 | ZFP36L1 | 2.854 | DISEASES 7586 | ZKSCAN1 | 2.873 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 585 |
|---|---|
| Disease | wolf hirschhorn syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:5) HP:0001252 | Hypotonia HP:0001250 | Seizures HP:0001249 | Mental retardation HP:0000252 | Small head circumference HP:0001518 | Small for gestational age |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0001250 | Seizures | 2 HP:0001252 | Hypotonia | 1 HP:0009592 | Astrocytoma | 1 HP:0012028 | Hepatocellular adenoma | 1 HP:0000202 | Oral clefting | 1 HP:0001999 | Facial dysmorphism | 1 HP:0002664 | Neoplasia | 1 |
| Disease ID | 585 |
|---|---|
| Disease | wolf hirschhorn syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| 4p16.3 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs14647 | 20935158 | 7468 | WHSC1 | umls:C1956097 | BeFree | We found SNP rs14647 in the Wolf-Hirschhorn syndrome candidate gene1 (WHSC1) 3'UTR (untranslated region) was associated with endometriosis-related infertility presenting an odds ratio of 12.2 (95% confidence interval = 2.4-60.7, P = 9.03 × 10(-5)). | 0.322985861 | 2011 | WHSC1 | 4 | 1982108 | G | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0001518 | Small for gestational age | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
Mapped by homologous gene(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001518 | Small for gestational age | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000252 | Microcephaly | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| Disease ID | 585 |
|---|---|
| Disease | wolf hirschhorn syndrome |
| Case | (Waiting for update.) |