Heyn-Sproul-Jackson Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 618724

MeSH ⁴³ D004392 D008607

MedGen ⁴¹ CN263103

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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

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Related Diseases for Heyn-Sproul-Jackson Syndrome

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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

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Drugs & Therapeutics for Heyn-Sproul-Jackson Syndrome

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

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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

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Anatomical Context for Heyn-Sproul-Jackson Syndrome

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

⁴⁰

Bone, Brain

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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	Heyn P...Jackson AP	30478443	2019

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Genes for Heyn-Sproul-Jackson Syndrome

Genes related to Heyn-Sproul-Jackson Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DNMT3A	DNA Methyltransferase 3 Alpha	Protein Coding	1218.35	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ GeneCards inferred via : Disorders Variants (show sections)	30478443

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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

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Expression for Heyn-Sproul-Jackson Syndrome

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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⁷⁴ Wikipedia

Heyn-Sproul-Jackson Syndrome (HESJAS)

Aliases & Classifications for Heyn-Sproul-Jackson Syndrome

MalaCards integrated aliases for Heyn-Sproul-Jackson Syndrome:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Heyn-Sproul-Jackson Syndrome

Related Diseases for Heyn-Sproul-Jackson Syndrome

Symptoms & Phenotypes for Heyn-Sproul-Jackson Syndrome

Human phenotypes related to Heyn-Sproul-Jackson Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Heyn-Sproul-Jackson Syndrome

Genetic Tests for Heyn-Sproul-Jackson Syndrome

Genetic tests related to Heyn-Sproul-Jackson Syndrome:

Anatomical Context for Heyn-Sproul-Jackson Syndrome

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

Publications for Heyn-Sproul-Jackson Syndrome

Articles related to Heyn-Sproul-Jackson Syndrome:

Genes for Heyn-Sproul-Jackson Syndrome

Genes related to Heyn-Sproul-Jackson Syndrome (1 elite genes):

Variations for Heyn-Sproul-Jackson Syndrome

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

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

Expression for Heyn-Sproul-Jackson Syndrome

Pathways for Heyn-Sproul-Jackson Syndrome

GO Terms for Heyn-Sproul-Jackson Syndrome

Sources for Heyn-Sproul-Jackson Syndrome