HESJAS
MCID: HYN001
MIFTS: 19

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 73 29 6
Microcephaly, Short Stature, and Impaired Intellectual Development 56 73
Hesjas 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in utero
three unrelated patients have been reported (last curated december 2019)


HPO:

31
heyn-sproul-jackson syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Heyn-Sproul-Jackson Syndrome

UniProtKB/Swiss-Prot : 73 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

Related Diseases for Heyn-Sproul-Jackson Syndrome

Symptoms & Phenotypes for Heyn-Sproul-Jackson Syndrome

Human phenotypes related to Heyn-Sproul-Jackson Syndrome:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 very rare (1%) HP:0000252
2 severe short stature 31 very rare (1%) HP:0003510
3 11 pairs of ribs 31 very rare (1%) HP:0000878
4 global developmental delay 31 HP:0001263
5 delayed speech and language development 31 HP:0000750
6 strabismus 31 HP:0000486
7 intrauterine growth retardation 31 HP:0001511
8 epicanthus 31 HP:0000286
9 broad forehead 31 HP:0000337
10 decreased body weight 31 HP:0004325
11 short metacarpal 31 HP:0010049
12 sparse hair 31 HP:0008070
13 short phalanx of finger 31 HP:0009803
14 broad metacarpals 31 HP:0001230
15 broad phalanx 31 HP:0006009

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
impaired intellectual development
poor or absent speech
normal brain imaging

Growth Other:
intrauterine growth retardation
poor postnatal growth

Head And Neck Face:
wide forehead
dysmorphic facial features (in some patients)

Head And Neck Head:
microcephaly (down to -6 sd)

Growth Weight:
low weight (down to -5 sd)

Immunology:
recurrent infections, mild (in some patients)

Head And Neck Eyes:
strabismus
epicanthal folds

Skin Nails Hair Hair:
sparse hair

Skeletal:
normal bone age

Growth Height:
short stature (down to -5 sd)
dwarfism, proportionate

Skeletal Hands:
short broad metacarpals
short broad phalanges

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

Genetic tests related to Heyn-Sproul-Jackson Syndrome:

# Genetic test Affiliating Genes
1 Heyn-Sproul-Jackson Syndrome 29

Anatomical Context for Heyn-Sproul-Jackson Syndrome

MalaCards organs/tissues related to Heyn-Sproul-Jackson Syndrome:

40
Bone, Brain

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_153759.3(DNMT3A):c.421T>C (p.Trp141Arg)SNV Pathogenic 801331 2:25470486-25470486 2:25247617-25247617
2 DNMT3A NM_153759.3(DNMT3A):c.430G>A (p.Asp144Asn)SNV Pathogenic 801332 2:25470477-25470477 2:25247608-25247608

UniProtKB/Swiss-Prot genetic disease variations for Heyn-Sproul-Jackson Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 DNMT3A p.Trp330Arg VAR_083539
2 DNMT3A p.Asp333Asn VAR_083540

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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