RHFCA
MCID: RDH004
MIFTS: 18

Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies (RHFCA)

Categories: Bone diseases, Fetal diseases, Genetic 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 72 29 6 39 70
Craniosynostosis with Radiohumeral Fusions and Other Skeletal and Craniofacial Anomalies 57 72 13
Rhfca 57 72
Lethal Occipital Encephalocele-Skeletal Dysplasia Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
lethal occipital encephalocele-skeletal dysplasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

31
radiohumeral fusions with other skeletal and craniofacial anomalies:
Inheritance autosomal recessive inheritance
Onset and clinical course antenatal onset


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 614416
MeSH 44 D013580
ICD10 via Orphanet 33 Q87.5
Orphanet 58 ORPHA293925
MedGen 41 C3280729
UMLS 70 C3280729

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

UniProtKB/Swiss-Prot : 72 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). Related phenotypes are brachycephaly and arachnodactyly

More information from OMIM: 614416

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

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

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

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 brachycephaly 31 HP:0000248
2 arachnodactyly 31 HP:0001166
3 craniosynostosis 31 HP:0001363
4 oligodactyly 31 HP:0012165
5 occipital encephalocele 31 HP:0002085
6 humeroradial synostosis 31 HP:0003041

Clinical features from OMIM®:

614416 (Updated 05-Apr-2021)

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...

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

Articles related to Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies:

# Title Authors PMID Year
1
Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid. 6 57
22019272 2011

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYP26B1 NM_019885.3(CYP26B1):c.1088G>T (p.Arg363Leu) SNV Pathogenic 30447 rs281875231 GRCh37: 2:72360210-72360210
GRCh38: 2:72133081-72133081
2 CYP26B1 NM_019885.3(CYP26B1):c.436T>C (p.Ser146Pro) SNV Pathogenic 30448 rs281875232 GRCh37: 2:72362542-72362542
GRCh38: 2:72135413-72135413
3 CYP26B1 NM_019885.4(CYP26B1):c.1333C>T (p.His445Tyr) SNV Uncertain significance 997465 GRCh37: 2:72359562-72359562
GRCh38: 2:72132433-72132433

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

72
# Symbol AA change Variation ID SNP ID
1 CYP26B1 p.Ser146Pro VAR_067923 rs281875232
2 CYP26B1 p.Arg363Leu VAR_067924 rs281875231

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 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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