MCID: CRN101
MIFTS: 6

Craniosynostosis Philadelphia Type

Categories: Rare diseases

Aliases & Classifications for Craniosynostosis Philadelphia Type

MalaCards integrated aliases for Craniosynostosis Philadelphia Type:

Name: Craniosynostosis Philadelphia Type 20

Classifications:



Summaries for Craniosynostosis Philadelphia Type

MalaCards based summary : Craniosynostosis Philadelphia Type is related to chromosome 2q35 duplication syndrome and craniosynostosis. An important gene associated with Craniosynostosis Philadelphia Type is IHH (Indian Hedgehog Signaling Molecule).

Related Diseases for Craniosynostosis Philadelphia Type

Diseases related to Craniosynostosis Philadelphia Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 2q35 duplication syndrome 11.3
2 craniosynostosis 10.2
3 fgfr craniosynostosis syndromes 10.0

Symptoms & Phenotypes for Craniosynostosis Philadelphia Type

Drugs & Therapeutics for Craniosynostosis Philadelphia Type

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Analysis of Craniosynostosis, Philadelphia Type (OMIM 601222) Completed NCT00367796

Search NIH Clinical Center for Craniosynostosis Philadelphia Type

Genetic Tests for Craniosynostosis Philadelphia Type

Anatomical Context for Craniosynostosis Philadelphia Type

Publications for Craniosynostosis Philadelphia Type

Articles related to Craniosynostosis Philadelphia Type:

# Title Authors PMID Year
1
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 61
25271085 2015
2
Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements. 61
25692887 2015
3
Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type? 61
18680190 2008
4
Craniosynostosis, Philadelphia type: a new autosomal dominant syndrome with sagittal craniosynostosis and syndactyly of the fingers and toes. 61
8882401 1996

Variations for Craniosynostosis Philadelphia Type

Expression for Craniosynostosis Philadelphia Type

Search GEO for disease gene expression data for Craniosynostosis Philadelphia Type.

Pathways for Craniosynostosis Philadelphia Type

GO Terms for Craniosynostosis Philadelphia Type

Sources for Craniosynostosis Philadelphia Type

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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