MCID: CLF055
MIFTS: 10

Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart...

MalaCards integrated aliases for Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome:

Name: Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome 58
Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Deafness Syndrome 58
Hyaluronidase 2 Deficiency 58

Classifications:

Orphanet: 58  
Rare cardiac malformations
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA508476

Summaries for Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart...

MalaCards based summary : Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome, also known as cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome, is related to congestive heart failure and cor triatriatum. An important gene associated with Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome is HYAL2 (Hyaluronidase 2). Affiliated tissues include heart.

Related Diseases for Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart...

Diseases related to Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congestive heart failure 9.9
2 cor triatriatum 9.9
3 cor triatriatum sinister 9.9

Symptoms & Phenotypes for Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart...

Drugs & Therapeutics for Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart...

Search Clinical Trials , NIH Clinical Center for Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome

Genetic Tests for Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart...

Anatomical Context for Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart...

MalaCards organs/tissues related to Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome:

40
Heart

Publications for Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart...

Articles related to Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome:

# Title Authors PMID Year
1
Hyaluronidase 2 Deficiency Causes Increased Mesenchymal Cells, Congenital Heart Defects, and Heart Failure. 61
28196902 2017
2
Hyaluronidase 2 deficiency is a molecular cause of cor triatriatum sinister in mice. 61
26901790 2016
3
Deficiency in mouse hyaluronidase 2: a new mechanism of chronic thrombotic microangiopathy. 61
25934767 2015
4
Murine hyaluronidase 2 deficiency results in extracellular hyaluronan accumulation and severe cardiopulmonary dysfunction. 61
23172227 2013

Variations for Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart...

Expression for Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart...

Search GEO for disease gene expression data for Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome.

Pathways for Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart...

GO Terms for Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart...

Sources for Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart...

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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