MCID: FML352
MIFTS: 9

Familial Scaphocephaly Syndrome

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Familial Scaphocephaly Syndrome

MalaCards integrated aliases for Familial Scaphocephaly Syndrome:

Name: Familial Scaphocephaly Syndrome 59

Classifications:



External Ids:

ICD10 via Orphanet 34 Q75.0
UMLS via Orphanet 73 C3267076
Orphanet 59 ORPHA169163

Summaries for Familial Scaphocephaly Syndrome

MalaCards based summary : Familial Scaphocephaly Syndrome is related to scaphocephaly, maxillary retrusion, and mental retardation and mcgillivray syndrome. An important gene associated with Familial Scaphocephaly Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2). Affiliated tissues include bone.

Related Diseases for Familial Scaphocephaly Syndrome

Diseases related to Familial Scaphocephaly Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 scaphocephaly, maxillary retrusion, and mental retardation 12.2
2 mcgillivray syndrome 11.3
3 crouzon syndrome 10.0
4 fgfr-related craniosynostosis syndromes 10.0

Symptoms & Phenotypes for Familial Scaphocephaly Syndrome

Drugs & Therapeutics for Familial Scaphocephaly Syndrome

Search Clinical Trials , NIH Clinical Center for Familial Scaphocephaly Syndrome

Genetic Tests for Familial Scaphocephaly Syndrome

Anatomical Context for Familial Scaphocephaly Syndrome

MalaCards organs/tissues related to Familial Scaphocephaly Syndrome:

41
Bone

Publications for Familial Scaphocephaly Syndrome

Articles related to Familial Scaphocephaly Syndrome:

# Title Authors PMID Year
1
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. 38
16061565 2005

Variations for Familial Scaphocephaly Syndrome

Expression for Familial Scaphocephaly Syndrome

Search GEO for disease gene expression data for Familial Scaphocephaly Syndrome.

Pathways for Familial Scaphocephaly Syndrome

GO Terms for Familial Scaphocephaly Syndrome

Sources for Familial Scaphocephaly Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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