MCID: HRT041
MIFTS: 13

Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome

MalaCards integrated aliases for Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome:

Name: Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome 54
Orstavik Lindemann Solberg Syndrome 54 30 6
Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 54

Classifications:



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Summaries for Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1338Disease definitionA rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly.Visit the Orphanet disease page for more resources.

MalaCards based summary : Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome, also known as orstavik lindemann solberg syndrome, is related to congenital heart defects, hamartomas of tongue, and polysyndactyly. An important gene associated with Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome is WDPCP (WD Repeat Containing Planar Cell Polarity Effector). Affiliated tissues include tongue and heart, and related phenotypes are patent ductus arteriosus and hamartoma of tongue

Related Diseases for Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome

Diseases in the Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome family:

Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly

Diseases related to Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital heart defects, hamartomas of tongue, and polysyndactyly 11.7

Symptoms & Phenotypes for Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome

Human phenotypes related to Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 patent ductus arteriosus 33 hallmark (90%) HP:0001643
2 hamartoma of tongue 33 hallmark (90%) HP:0011802
3 subvalvular aortic stenosis 33 hallmark (90%) HP:0001682
4 cryptorchidism 33 frequent (33%) HP:0000028
5 benign neoplasm of the central nervous system 33 frequent (33%) HP:0100835
6 2-3 finger syndactyly 33 frequent (33%) HP:0001233

Drugs & Therapeutics for Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome

Search Clinical Trials , NIH Clinical Center for Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome

Genetic Tests for Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome

Genetic tests related to Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome:

# Genetic test Affiliating Genes
1 Orstavik Lindemann Solberg Syndrome 30 WDPCP

Anatomical Context for Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome

MalaCards organs/tissues related to Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome:

42
Tongue, Heart

Publications for Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome

Variations for Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome

Expression for Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome

Search GEO for disease gene expression data for Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome.

Pathways for Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome

GO Terms for Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome

Sources for Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome

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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