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 53 29 6 73
Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 53

Classifications:



External Ids:

UMLS 73 C1857587

Summaries for Orstavik Lindemann Solberg Syndrome

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 tongue and heart.

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 11.4

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 29 WDPCP

Anatomical Context for Orstavik Lindemann Solberg Syndrome

MalaCards organs/tissues related to Orstavik Lindemann Solberg Syndrome:

41
Tongue, Heart

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 Pathogenic rs200322968 GRCh37 Chromosome 2, 63719990: 63719990
4 WDPCP NM_015910.6(WDPCP): c.160G> A (p.Asp54Asn) single nucleotide variant Pathogenic 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
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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33 ICD10
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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