MCID: CLF055
MIFTS: 8

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 60
Hyaluronidase 2 Deficiency 60

Classifications:



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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 hyaluronidase 2 deficiency, is related to cor triatriatum and cor triatriatum sinister. 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 cor triatriatum 9.9
2 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:

42
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 Year
1
Hyaluronidase 2 deficiency is a molecular cause of cor triatriatum sinister in mice. ( 26901790 )
2016

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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