MCID: RDH004
MIFTS: 17

Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies

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

Aliases & Classifications for Radiohumeral Fusions with Other Skeletal and Craniofacial...

MalaCards integrated aliases for Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies:

Name: Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies 57 75 29 6 40 73
Craniosynostosis with Radiohumeral Fusions and Other Skeletal and Craniofacial Anomalies 57 75 13
Rhfca 57 75
Lethal Occipital Encephalocele-Skeletal Dysplasia Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
lethal occipital encephalocele-skeletal dysplasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
radiohumeral fusions with other skeletal and craniofacial anomalies:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614416
Orphanet 59 ORPHA293925
ICD10 via Orphanet 34 Q87.5
MedGen 42 C3280729
MeSH 44 D013580
UMLS 73 C3280729

Summaries for Radiohumeral Fusions with Other Skeletal and Craniofacial...

UniProtKB/Swiss-Prot : 75 Radiohumeral fusions with other skeletal and craniofacial anomalies: A disease characterized by craniofacial malformations, occipital encephalocele, radiohumeral fusions, oligodactyly, advanced osseous maturation, and calvarial mineralization defects.

MalaCards based summary : Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies, is also known as craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies. An important gene associated with Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies is CYP26B1 (Cytochrome P450 Family 26 Subfamily B Member 1). Affiliated tissues include bone, and related phenotypes are brachycephaly and arachnodactyly

Description from OMIM: 614416

Related Diseases for Radiohumeral Fusions with Other Skeletal and Craniofacial...

Symptoms & Phenotypes for Radiohumeral Fusions with Other Skeletal and Craniofacial...

Clinical features from OMIM:

614416

Human phenotypes related to Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 brachycephaly 32 HP:0000248
2 arachnodactyly 32 HP:0001166
3 craniosynostosis 32 HP:0001363
4 occipital encephalocele 32 HP:0002085
5 humeroradial synostosis 32 HP:0003041
6 oligodactyly 32 HP:0012165

Drugs & Therapeutics for Radiohumeral Fusions with Other Skeletal and Craniofacial...

Search Clinical Trials , NIH Clinical Center for Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies

Genetic Tests for Radiohumeral Fusions with Other Skeletal and Craniofacial...

Genetic tests related to Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies:

# Genetic test Affiliating Genes
1 Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies 29 CYP26B1

Anatomical Context for Radiohumeral Fusions with Other Skeletal and Craniofacial...

MalaCards organs/tissues related to Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies:

41
Bone

Publications for Radiohumeral Fusions with Other Skeletal and Craniofacial...

Variations for Radiohumeral Fusions with Other Skeletal and Craniofacial...

UniProtKB/Swiss-Prot genetic disease variations for Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies:

75
# Symbol AA change Variation ID SNP ID
1 CYP26B1 p.Ser146Pro VAR_067923 rs281875232
2 CYP26B1 p.Arg363Leu VAR_067924 rs281875231

ClinVar genetic disease variations for Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP26B1 NM_019885.3(CYP26B1): c.1088G> T (p.Arg363Leu) single nucleotide variant Pathogenic rs281875231 GRCh37 Chromosome 2, 72360210: 72360210
2 CYP26B1 NM_019885.3(CYP26B1): c.1088G> T (p.Arg363Leu) single nucleotide variant Pathogenic rs281875231 GRCh38 Chromosome 2, 72133081: 72133081
3 CYP26B1 NM_019885.3(CYP26B1): c.436T> C (p.Ser146Pro) single nucleotide variant Pathogenic rs281875232 GRCh37 Chromosome 2, 72362542: 72362542
4 CYP26B1 NM_019885.3(CYP26B1): c.436T> C (p.Ser146Pro) single nucleotide variant Pathogenic rs281875232 GRCh38 Chromosome 2, 72135413: 72135413

Expression for Radiohumeral Fusions with Other Skeletal and Craniofacial...

Search GEO for disease gene expression data for Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies.

Pathways for Radiohumeral Fusions with Other Skeletal and Craniofacial...

GO Terms for Radiohumeral Fusions with Other Skeletal and Craniofacial...

Sources for Radiohumeral Fusions with Other Skeletal and Craniofacial...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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