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HESJAS
MCID: HYN001
MIFTS: 19
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Heyn-Sproul-Jackson Syndrome (HESJAS)
Categories:
Genetic diseases
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MalaCards integrated aliases for Heyn-Sproul-Jackson Syndrome:Characteristics:OMIM®:57 (Updated 20-May-2021)
Inheritance:
autosomal dominant
Miscellaneous:
de novo mutation onset in utero three unrelated patients have been reported (last curated december 2019) HPO:31Classifications: |
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UniProtKB/Swiss-Prot :
72
Heyn-Sproul-Jackson syndrome: An autosomal dominant form of microcephalic dwarfism. Affected individuals have intrauterine growth retardation, postnatal growth restrictions, proportionate short stature, microcephaly, severe developmental delay and impaired intellectual development. More variable features include sparse hair, short broad metacarpals and phalanges, and mild recurrent infections.
MalaCards based summary : Heyn-Sproul-Jackson Syndrome, is also known as microcephaly, short stature, and impaired intellectual development. An important gene associated with Heyn-Sproul-Jackson Syndrome is DNMT3A (DNA Methyltransferase 3 Alpha). Affiliated tissues include bone and brain, and related phenotypes are microcephaly and severe short stature
More information from OMIM:
618724
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Human phenotypes related to Heyn-Sproul-Jackson Syndrome:31 (show all 15)
Symptoms via clinical synopsis from OMIM®:57 (Updated 20-May-2021)Clinical features from OMIM®:618724 (Updated 20-May-2021) |
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MalaCards organs/tissues related to Heyn-Sproul-Jackson Syndrome:40
Bone,
Brain
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Articles related to Heyn-Sproul-Jackson Syndrome:
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Genes related to Heyn-Sproul-Jackson Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Heyn-Sproul-Jackson Syndrome:6
UniProtKB/Swiss-Prot genetic disease variations for Heyn-Sproul-Jackson Syndrome:72
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Search
GEO
for disease gene expression data for Heyn-Sproul-Jackson Syndrome.
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