RHFCA
MCID: RDH004
MIFTS: 19

Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies (RHFCA)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
Data Licensing
For inquiries, contact:

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 73 38 71
Lethal Occipital Encephalocele-Skeletal Dysplasia Syndrome 58 28 5
Craniosynostosis with Radiohumeral Fusions and Other Skeletal and Craniofacial Anomalies 57 73
Rhfca 57 73

Characteristics:


Inheritance:

Lethal Occipital Encephalocele-Skeletal Dysplasia Syndrome: Autosomal recessive 58

Prevelance:

Lethal Occipital Encephalocele-Skeletal Dysplasia Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Lethal Occipital Encephalocele-Skeletal Dysplasia Syndrome: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 614416
MeSH 43 D013580
ICD10 via Orphanet 32 Q87.5
Orphanet 58 ORPHA293925
MedGen 40 C3280729
UMLS 71 C3280729

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

Orphanet: 58 Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.

MalaCards based summary: Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies, is also known as lethal occipital encephalocele-skeletal dysplasia syndrome. 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

UniProtKB/Swiss-Prot: 73 A disease characterized by craniofacial malformations, occipital encephalocele, radiohumeral fusions, oligodactyly, advanced osseous maturation, and calvarial mineralization defects.

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:

30 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachycephaly 30 HP:0000248
2 arachnodactyly 30 HP:0001166
3 craniosynostosis 30 HP:0001363
4 oligodactyly 30 HP:0012165
5 occipital encephalocele 30 HP:0002085
6 humeroradial synostosis 30 HP:0003041

Clinical features from OMIM®:

614416 (Updated 24-Oct-2022)

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 Lethal Occipital Encephalocele-Skeletal Dysplasia Syndrome 28 CYP26B1

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

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

MalaCards : Bone

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. 57 5
22019272 2011

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

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

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYP26B1 NM_019885.4(CYP26B1):c.1088G>T (p.Arg363Leu) SNV Pathogenic
30447 rs281875231 GRCh37: 2:72360210-72360210
GRCh38: 2:72133081-72133081
2 CYP26B1 NM_019885.4(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 rs1676614895 GRCh37: 2:72359562-72359562
GRCh38: 2:72132433-72132433
4 CYP26B1 NM_019885.4(CYP26B1):c.321G>A (p.Met107Ile) SNV Uncertain Significance
1319707 GRCh37: 2:72371226-72371226
GRCh38: 2:72144097-72144097

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

73
# 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...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....