MCID: ORS001
MIFTS: 8

Orstavik Lindemann Solberg Syndrome

Categories: Rare diseases

Aliases & Classifications for Orstavik Lindemann Solberg Syndrome

MalaCards integrated aliases for Orstavik Lindemann Solberg Syndrome:

Name: Orstavik Lindemann Solberg Syndrome 54 30 6 74
Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 54

Classifications:



External Ids:

UMLS 74 C1857587

Summaries for Orstavik Lindemann Solberg 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 : Orstavik Lindemann Solberg Syndrome, also known as congenital heart defects, hamartomas of tongue, and polysyndactyly, is related to congenital heart defects, hamartomas of tongue, and polysyndactyly. An important gene associated with Orstavik Lindemann Solberg Syndrome is WDPCP (WD Repeat Containing Planar Cell Polarity Effector). Affiliated tissues include heart and tongue.

Related Diseases for Orstavik Lindemann Solberg Syndrome

Diseases related to Orstavik Lindemann Solberg 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 11.6

Symptoms & Phenotypes for Orstavik Lindemann Solberg Syndrome

Drugs & Therapeutics for Orstavik Lindemann Solberg Syndrome

Search Clinical Trials , NIH Clinical Center for Orstavik Lindemann Solberg Syndrome

Genetic Tests for Orstavik Lindemann Solberg Syndrome

Genetic tests related to Orstavik Lindemann Solberg Syndrome:

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

Anatomical Context for Orstavik Lindemann Solberg Syndrome

MalaCards organs/tissues related to Orstavik Lindemann Solberg Syndrome:

42
Heart, Tongue

Publications for Orstavik Lindemann Solberg Syndrome

Variations for Orstavik Lindemann Solberg Syndrome

ClinVar genetic disease variations for Orstavik Lindemann Solberg Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WDPCP NM_015910.6(WDPCP): c.552_553delAT (p.Cys185Phefs) deletion Pathogenic rs727503781 GRCh37 Chromosome 2, 63664635: 63664636
2 WDPCP NM_015910.6(WDPCP): c.552_553delAT (p.Cys185Phefs) deletion Pathogenic rs727503781 GRCh38 Chromosome 2, 63437501: 63437502
3 WDPCP NM_015910.6(WDPCP): c.160G> A (p.Asp54Asn) single nucleotide variant Uncertain significance rs200322968 GRCh37 Chromosome 2, 63719990: 63719990
4 WDPCP NM_015910.6(WDPCP): c.160G> A (p.Asp54Asn) single nucleotide variant Uncertain significance rs200322968 GRCh38 Chromosome 2, 63492856: 63492856

Expression for Orstavik Lindemann Solberg Syndrome

Search GEO for disease gene expression data for Orstavik Lindemann Solberg Syndrome.

Pathways for Orstavik Lindemann Solberg Syndrome

GO Terms for Orstavik Lindemann Solberg Syndrome

Sources for Orstavik Lindemann Solberg 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
Content
Loading form....