IDDGIP
MCID: INT314
MIFTS: 17
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Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold (IDDGIP)
Categories:
Gastrointestinal diseases, Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold:
Name: Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold
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75
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Characteristics:HPO:32
intellectual developmental disorder with gastrointestinal difficulties and high pain threshold:
Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Anatomical: Gastrointestinal diseases Neuronal diseases |
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 low-set ears and intellectual disability 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) |
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617450Human phenotypes related to Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold:32 (show all 27)
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ClinVar genetic disease variations for Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold:6 (show all 12)
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Search
GEO
for disease gene expression data for Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold.
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