MCID: FML352
MIFTS: 8

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 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q75.0
UMLS via Orphanet 72 C3267076
Orphanet 58 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

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:

40
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. 61
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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