HESJAS
MCID: HYN001
MIFTS: 8

Heyn-Sproul-Jackson Syndrome (HESJAS)

Categories: Genetic diseases

Aliases & Classifications for Heyn-Sproul-Jackson Syndrome

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:



External Ids:

OMIM 56 618724

Summaries for Heyn-Sproul-Jackson Syndrome

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

Related Diseases for Heyn-Sproul-Jackson Syndrome

Symptoms & Phenotypes for Heyn-Sproul-Jackson Syndrome

Clinical features from OMIM:

618724

Drugs & Therapeutics for Heyn-Sproul-Jackson Syndrome

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

Genetic Tests for Heyn-Sproul-Jackson Syndrome

Anatomical Context for Heyn-Sproul-Jackson Syndrome

Publications for Heyn-Sproul-Jackson Syndrome

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

Variations for Heyn-Sproul-Jackson Syndrome

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

Expression for Heyn-Sproul-Jackson Syndrome

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

Pathways for Heyn-Sproul-Jackson Syndrome

GO Terms for Heyn-Sproul-Jackson Syndrome

Sources for Heyn-Sproul-Jackson Syndrome

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
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