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HESJAS
MCID: HYN001
MIFTS: 8

Heyn-Sproul-Jackson Syndrome (HESJAS)

Categories: Genetic diseases
Genes Variations Publications
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Aliases & Classifications for Heyn-Sproul-Jackson Syndrome

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MalaCards integrated aliases for Heyn-Sproul-Jackson Syndrome:

Name: Heyn-Sproul-Jackson Syndrome 56 6
Microcephaly, Short Stature, and Impaired Intellectual Development 56
Hesjas 56

Classifications:

MalaCards categories:
Global: Genetic diseases
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External Ids:

OMIM 56 618724
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Summaries for Heyn-Sproul-Jackson Syndrome

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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).

More information from OMIM: 618724
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Related Diseases for Heyn-Sproul-Jackson Syndrome

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Symptoms & Phenotypes for Heyn-Sproul-Jackson Syndrome

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Clinical features from OMIM:

618724
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Drugs & Therapeutics for Heyn-Sproul-Jackson Syndrome

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Search Clinical Trials , NIH Clinical Center for Heyn-Sproul-Jackson Syndrome

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Genetic Tests for Heyn-Sproul-Jackson Syndrome

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Anatomical Context for Heyn-Sproul-Jackson Syndrome

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Publications for Heyn-Sproul-Jackson Syndrome

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Articles related to Heyn-Sproul-Jackson Syndrome:

# Title Authors PMID Year
1
Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions. 56 6
30478443 2019
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Variations for Heyn-Sproul-Jackson Syndrome

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ClinVar genetic disease variations for Heyn-Sproul-Jackson Syndrome:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNMT3A NM_022552.4(DNMT3A):c.988T>C (p.Trp330Arg)SNV Pathogenic 801331 2:25470486-25470486 2:25247617-25247617
2 DNMT3A NM_022552.4(DNMT3A):c.997G>A (p.Asp333Asn)SNV Pathogenic 801332 2:25470477-25470477 2:25247608-25247608
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Expression for Heyn-Sproul-Jackson Syndrome

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Search GEO for disease gene expression data for Heyn-Sproul-Jackson Syndrome.
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Pathways for Heyn-Sproul-Jackson Syndrome

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GO Terms for Heyn-Sproul-Jackson Syndrome

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Sources for Heyn-Sproul-Jackson Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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