BURHAS
MCID: BRT061
MIFTS: 9

Buratti-Harel Syndrome (BURHAS)

Categories: Genetic diseases

Aliases & Classifications for Buratti-Harel Syndrome

MalaCards integrated aliases for Buratti-Harel Syndrome:

Name: Buratti-Harel Syndrome 57
Burhas 57

Classifications:



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OMIM® 57 619314

Summaries for Buratti-Harel Syndrome

OMIM® : 57 Buratti-Harel syndrome (BURHAS) is a neurodevelopmental disorder characterized by infantile hypotonia, global developmental delay, mild motor and speech delay, and mild to moderately impaired intellectual development. Some patients are able to attend special schools and show learning difficulties, whereas others are more severely affected. Patients have prominent dysmorphic facial features, including hypertelorism, downslanting palpebral fissures, strabismus, and small low-set ears. Additional features may include laryngomalacia with feeding difficulties and distal skeletal anomalies (summary by Buratti et al., 2021). (619314) (Updated 20-May-2021)

MalaCards based summary : Buratti-Harel Syndrome, is also known as burhas. An important gene associated with Buratti-Harel Syndrome is SIAH1 (Siah E3 Ubiquitin Protein Ligase 1).

Related Diseases for Buratti-Harel Syndrome

Symptoms & Phenotypes for Buratti-Harel Syndrome

Clinical features from OMIM®:

619314 (Updated 20-May-2021)

Drugs & Therapeutics for Buratti-Harel Syndrome

Search Clinical Trials , NIH Clinical Center for Buratti-Harel Syndrome

Genetic Tests for Buratti-Harel Syndrome

Anatomical Context for Buratti-Harel Syndrome

Publications for Buratti-Harel Syndrome

Articles related to Buratti-Harel Syndrome:

# Title Authors PMID Year
1
De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features. 57
32430360 2021
2
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. 57
28600779 2017

Variations for Buratti-Harel Syndrome

Expression for Buratti-Harel Syndrome

Search GEO for disease gene expression data for Buratti-Harel Syndrome.

Pathways for Buratti-Harel Syndrome

GO Terms for Buratti-Harel Syndrome

Biological processes related to Buratti-Harel Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein catabolic process GO:0030163 8.62 SIAH1 LONP2

Sources for Buratti-Harel Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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