SHMS
MCID: SCH074
MIFTS: 48
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Schuurs-Hoeijmakers Syndrome (SHMS)
Categories:
Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Schuurs-Hoeijmakers Syndrome:
Characteristics:Orphanet epidemiological data:58
intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
recurrent de novo mutation HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Mental diseases Reproductive diseases
Orphanet: 58
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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. |
Human phenotypes related to Schuurs-Hoeijmakers Syndrome:58 31 (show top 50) (show all 73)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:615009 (Updated 05-Mar-2021)UMLS symptoms related to Schuurs-Hoeijmakers Syndrome:seizures, constipation |
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MalaCards organs/tissues related to Schuurs-Hoeijmakers Syndrome:40
Brain,
B Cells,
Kidney,
Liver,
Thyroid,
Prostate
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Articles related to Schuurs-Hoeijmakers Syndrome:(show top 50) (show all 86)
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ClinVar genetic disease variations for Schuurs-Hoeijmakers Syndrome:6 (show all 24)
UniProtKB/Swiss-Prot genetic disease variations for Schuurs-Hoeijmakers Syndrome:73
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Search
GEO
for disease gene expression data for Schuurs-Hoeijmakers Syndrome.
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Cellular components related to Schuurs-Hoeijmakers Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Schuurs-Hoeijmakers Syndrome according to GeneCards Suite gene sharing:(show all 11)
Molecular functions related to Schuurs-Hoeijmakers Syndrome according to GeneCards Suite gene sharing:
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