ISDNA
MCID: IMM146
MIFTS: 25
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Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities (ISDNA)
Categories:
Genetic diseases, Immune diseases, Neuronal diseases
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Aliases & Classifications for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities
MalaCards integrated aliases for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities:Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
may result in death in neonatal period variable skeletal and immune features present HPO:31
immunoskeletal dysplasia with neurodevelopmental abnormalities:
Inheritance autosomal recessive inheritance Classifications: |
UniProtKB/Swiss-Prot :
73
Immunoskeletal dysplasia with neurodevelopmental abnormalities: An autosomal recessive disorder characterized by variable skeletal abnormalities and neurodevelopmental defects. Neurologic manifestations include intellectual disability and motor delay. Some patients manifest hypotonia and seizures. Skeletal features include disproportionate short stature, cervical malformations, epiphyseal and metaphyseal dysplasia, and rarely premature craniosynostosis with progressive microcephaly. Severe combined immunodeficiency with a complete absence of T cells is observed in some patients.
MalaCards based summary : Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities, is also known as isdna. An important gene associated with Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities is EXTL3 (Exostosin Like Glycosyltransferase 3). Affiliated tissues include t cells, bone and liver, and related phenotypes are hypertelorism and anal atresia
More information from OMIM:
617425
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Human phenotypes related to Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities:31 (show all 32)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:617425 |
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MalaCards organs/tissues related to Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities:40
T Cells,
Bone,
Liver,
B Cells
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Articles related to Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities:
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ClinVar genetic disease variations for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities:6
UniProtKB/Swiss-Prot genetic disease variations for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities:73
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Search
GEO
for disease gene expression data for Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities.
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