Schuurs-Hoeijmakers Syndrome (SHMS)

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Disease Ontology 12 DOID:0070047 OMIM® 57 615009 OMIM Phenotypic Series 57 PS156200 MeSH 44 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

GARD : ²⁰ PACS-1 related syndrome causes intellectual disability, developmental delay, and distinctive facial features. This condition is present from birth. Symptoms of PACS-1 related syndrome may include low muscle tone, feeding difficulties, constipation, seizures, and heart defects. PACS1-related syndrome is caused by a specific genetic variant in the PACS1 gene. In most cases, this gene variant is not inherited, but occurs as a new change during the making of the egg or the sperm. The diagnosis is based on the symptoms, a clinical examination, and may be confirmed by the results of genetic testing. As of 2017, less than 70 people have been diagnosed with this syndrome. Treatment for PACS1-related syndrome is focused on managing the symptoms, and may include medications to prevent seizures and placement of a feeding tube to help with weight gain.

MalaCards based summary : Schuurs-Hoeijmakers Syndrome, also known as mental retardation, autosomal dominant 17, is related to pacs1 neurodevelopmental disorder 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 brain, b cells and kidney, 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® : ⁵⁷ 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) (Updated 05-Mar-2021)

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 (Updated 05-Mar-2021)

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

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