Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold

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OMIM 57 617450 MedGen 42 C4479517 CN243957

MeSH 44 D065886 SNOMED-CT via HPO 69 263681008 40159009 253251006 95515009 708670007 128602000 22066006 38101003 12479006 191736004 48694002 162294008 229721007 29164008 62415009 43476002 228156007 247578003 91138005 224958001 11375002 249497008 300359004 422400008 14760008 225595004 16331000 235595009 698065002 249710008 61960001 237836003 406506008 7461003 78164000 299032009 more

UniProtKB/Swiss-Prot : ⁷⁵ Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold: An autosomal dominant neurodevelopmental disorder characterized by mild to severe intellectual disability, psychomotor developmental delay, speech delay, and behavioral manifestations including attention deficit-hyperactivity disorder, autism and anxiety disorders. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold, hypersensitivity to sound, hypotonia, broad-based gait, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet.

MalaCards based summary : Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold, is also known as iddgip. An important gene associated with Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold is PPM1D (Protein Phosphatase, Mg2+/Mn2+ Dependent 1D). Related phenotypes are wide mouth and thin upper lip vermilion

OMIM : ⁵⁷ IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017). (617450)

Clinical features from OMIM:

617450

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold.