Schuurs-Hoeijmakers Syndrome (SHMS)

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Disease Ontology 12 DOID:0070047 OMIM 56 615009 OMIM Phenotypic Series 56 PS156200 MeSH 43 D008607

Orphanet 58 ORPHA329224 MedGen 41 C3554343 CN164257 SNOMED-CT via HPO 68 111266001 11934000 128602000 128613002 14760008 16026008 162294008 16331000 194021007 203534009 204317008 204470001 204878001 22006008 22066006 224958001 225595004 22631008 228156007 229721007 235595009 246545002 246800008 247578003 248004009 248200007 248409006 249752003 249773003 253207002 253273004 253549006 263681008 271611007 275478007 275480001 29164008 299462005 30288003 313307000 32003007 35591002 361276003 361277007 36440009 391987005 394616008 396232000 396347007 396351009 398206004 398302004 40159009 423230008 432788009 44513007 53226007 563001 57190000 59494005 61372001 62415009 64217002 69056000 698065002 72352009 74227009 78164000 8011004 83330001 84757009 89525009 90738007 91138005 91175000 92828000 93390002 95515009 95646004 9707006 more UMLS 71 C3554343

NIH Rare Diseases : ⁵² PACS-1 related syndrome is characterized by intellectual disability , developmental delay , and mildly distinctive facial features. People with this syndrome may also have seizures , difficulty eating and gaining weight, and autism . As of 2017, less than 70 people have been diagnosed with this syndrome. However, since the first cases of the syndrome were only published in the medical journals in 2012, the number of children and adults found to have the syndrome may increase. PACS1-related syndrome is caused by a specific change or mutation in the PACS1 gene . So far, this genetic change has not been found in the parents of a child with PACS1 -related syndrome. This means the change in the PACS1 gene most likely happened during the making of the egg or the sperm. PACS1-related disorder is suspected when a doctor sees signs of the syndrome such as intellectual disability and the characteristic facial features. Genetic testing of the PACS1 gene is needed to confirm the diagnosis. Treatment for PACS1-related syndrome depends on the signs and symptoms each person has, but may include medications to prevent seizures, and speech , physical , and occupational therapies.

MalaCards based summary : Schuurs-Hoeijmakers Syndrome, also known as mental retardation, autosomal dominant 17, is related to leukemia, chronic lymphocytic and pacs1 syndrome, and has symptoms including seizures and constipation. An important gene associated with Schuurs-Hoeijmakers Syndrome is PACS1 (Phosphofurin Acidic Cluster Sorting Protein 1), and among its related pathways/superpathways is Primary immunodeficiency. Affiliated tissues include testes, b cells and brain, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : ¹² An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PACS1 on chromosome 11q13.1-q13.2.

OMIM : ⁵⁶ Schuurs-Hoeijmakers syndrome is an autosomal dominant disorder characterized by mental retardation, distinct craniofacial features, and variable additional congenital abnormalities (summary by Schuurs-Hoeijmakers et al., 2016). (615009)

UniProtKB/Swiss-Prot : ⁷³ Schuurs-Hoeijmakers syndrome: A syndromic form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. SHMS patients have intellectual disability in combination with distinct craniofacial features and genital abnormalities.

Clinical features from OMIM:

615009

Search Clinical Trials , NIH Clinical Center for Schuurs-Hoeijmakers Syndrome

Search GEO for disease gene expression data for Schuurs-Hoeijmakers Syndrome.