ONTOLOGY REPORT - ANNOTATIONS


Term:Wolf-Hirschhorn syndrome
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Accession:DOID:0050460 term browser browse the term
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.
Synonyms:exact_synonym: 4p deletion syndrome;   4p- Syndrome;   CHROMOSOME 4p16.3 DELETION SYNDROME;   Chromosome 4p Deletion Syndrome;   Chromosome 4p Monosomy;   Chromosome 4p Syndrome;   Chromosome 4p Syndromes;   Del(4p) Syndrome;   Mental Retardation, Unusual Facies, And Intrauterine Growth Retardation;   PRDS;   Partial Monosomy 4p;   Pitt Rogers Danks Syndrome;   Pitt Syndrome;   Pitt Syndromes;   WHS;   Wolf Hirchhorn Syndrome;   Wolf syndrome
 primary_id: MESH:D054877
 alt_id: OMIM:194190;   RDO:0002409
 xref: GARD:7896
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Wolf-Hirschhorn syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cplx1 complexin 1 JBrowse link 14 2,194,895 2,226,610 RGD:11554173
G Ctbp1 C-terminal binding protein 1 JBrowse link 14 82,762,109 82,789,350 RGD:11554173
G Fgfrl1 fibroblast growth factor receptor-like 1 JBrowse link 14 2,020,110 2,032,169 RGD:11554173
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 JBrowse link 14 82,227,790 82,267,298 RGD:11554173
G Msx1 msh homeobox 1 JBrowse link 14 77,712,262 77,716,061 RGD:11554173
G Nsd2 nuclear receptor binding SET domain protein 2 JBrowse link 14 82,119,210 82,196,501 RGD:11554173
RGD:7240710
RGD:8554872

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Path 1
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  disease 14875
    syndrome 4220
      chromosomal deletion syndrome 325
        Wolf-Hirschhorn syndrome 6
Path 2
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  disease 14875
    Pathological Conditions, Signs and Symptoms 7362
      Pathologic Processes 4865
        Chromosome Aberrations 519
          Aneuploidy 426
            Monosomy 381
              Chromosome Deletion 381
                chromosomal deletion syndrome 325
                  Wolf-Hirschhorn syndrome 6
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.