BDA6
MCID: OSB001
MIFTS: 34

Osebold-Remondini Syndrome (BDA6)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Osebold-Remondini Syndrome

MalaCards integrated aliases for Osebold-Remondini Syndrome:

Name: Osebold-Remondini Syndrome 56 12 74 52 58
Brachydactyly Type A6 12 74 52 58 43 15 71
Brachymesophalangy with Mesomelic Short Limbs and Carpal and Tarsal Osseous Abnormalities 56 12 52
Bda6 56 12 52
Brachydactyly, Type A6; Bda6 56
Brachydactyly, Type A6 56

Characteristics:

Orphanet epidemiological data:

58
brachydactyly type a6
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
osebold-remondini syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0110968
OMIM 56 112910
MeSH 43 C537092
MESH via Orphanet 44 C537092
ICD10 via Orphanet 33 Q73.8
UMLS via Orphanet 72 C1862130
Orphanet 58 ORPHA93382
MedGen 41 C1862130
UMLS 71 C1862130

Summaries for Osebold-Remondini Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93382 Definition Brachydactyly A6 (BDA6) is characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant . Visit the Orphanet disease page for more resources.

MalaCards based summary : Osebold-Remondini Syndrome, also known as brachydactyly type a6, is related to mesomelia-synostoses syndrome and chondrodysplasia punctata syndrome. An important gene associated with Osebold-Remondini Syndrome is PARP16 (Poly(ADP-Ribose) Polymerase Family Member 16), and among its related pathways/superpathways are Telomere C-strand (Lagging Strand) Synthesis and Apoptosis Modulation and Signaling. Affiliated tissues include bone and heart, and related phenotypes are short stature and short toe

Disease Ontology : 12 A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions.

OMIM : 56 The Osebold-Remondini syndrome is a bone dysplasia with mesomelic shortness of limbs and, hence, shortness of stature, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, carpal and tarsal coalitions, and apparently no other anomalies (summary by Opitz and Gilbert, 1985). (112910)

Wikipedia : 74 Brachydactyly (Greek ?????? = "short" plus ???????? = "finger"), is a medical term which literally means... more...

Related Diseases for Osebold-Remondini Syndrome

Diseases related to Osebold-Remondini Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mesomelia-synostoses syndrome 11.6
2 chondrodysplasia punctata syndrome 10.6
3 synostosis 10.6
4 cardia cancer 10.0 PARP4 PARP1
5 clostridium difficile colitis 9.9 WDTC1 PARP1
6 spinal cord injury 9.4 RTN4R GFAP
7 pervasive developmental disorder 8.9 RTN4 MRAP GFAP

Graphical network of the top 20 diseases related to Osebold-Remondini Syndrome:



Diseases related to Osebold-Remondini Syndrome

Symptoms & Phenotypes for Osebold-Remondini Syndrome

Human phenotypes related to Osebold-Remondini Syndrome:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 short stature 31 HP:0004322
2 short toe 31 HP:0001831
3 abnormality of the vertebral column 31 HP:0000925
4 hypoplasia of the ulna 31 HP:0003022
5 broad finger 31 HP:0001500
6 tarsal synostosis 31 HP:0008368
7 hypoplasia of the radius 31 HP:0002984
8 short phalanx of finger 31 HP:0009803
9 mesomelia 31 HP:0003027
10 fibular hypoplasia 31 HP:0003038
11 radial deviation of finger 31 HP:0009466
12 short tibia 31 HP:0005736
13 broad toe 31 HP:0001837
14 type a brachydactyly 31 HP:0009370
15 aplasia/hypoplasia of the middle phalanges of the hand 31 HP:0009843
16 carpal synostosis 31 HP:0009702
17 decreased finger mobility 31 HP:0006135
18 dysplastic distal radial epiphyses 31 HP:0005013
19 bipartite calcaneus 31 HP:0008127

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Skeletal Limbs:
dysplastic distal radial epiphyses
mesomelic limb shortening
short radii
short ulnae
short tibiae
more
Skeletal Feet:
absent/hypoplastic middle phalanges
short, broad toes
abnormal tarsals
delayed fusion of bipartite calcanci
tarsal fusion

Skeletal Hands:
decreased finger mobility
short, broad fingers
single interphalangeal joint
absent/hypoplastic middle phalanges
radially deviated fingers
more
Skeletal Spine:
normal spine

Clinical features from OMIM:

112910

Drugs & Therapeutics for Osebold-Remondini Syndrome

Search Clinical Trials , NIH Clinical Center for Osebold-Remondini Syndrome

Cochrane evidence based reviews: brachydactyly type a6

Genetic Tests for Osebold-Remondini Syndrome

Anatomical Context for Osebold-Remondini Syndrome

MalaCards organs/tissues related to Osebold-Remondini Syndrome:

40
Bone, Heart

Publications for Osebold-Remondini Syndrome

Articles related to Osebold-Remondini Syndrome:

# Title Authors PMID Year
1
Osebold-Remondini syndrome vs chondrodysplasia punctata. 56 61
3425625 1987
2
Autopsy findings in a stillborn female infant with the Osebold-Remondini syndrome. 61 56
4073129 1985
3
An autosomal dominant syndrome of short stature with mesomelic shortness of limbs, abnormal carpal and tarsal bones, hypoplastic middle phalanges, and bipartite calcanei. 56
4073128 1985

Variations for Osebold-Remondini Syndrome

Expression for Osebold-Remondini Syndrome

Search GEO for disease gene expression data for Osebold-Remondini Syndrome.

Pathways for Osebold-Remondini Syndrome

Pathways related to Osebold-Remondini Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.51 PARP4 PARP3 PARP2 PARP1 PARG
2
Show member pathways
12.42 PARP4 PARP3 PARP2 PARP16 PARP1
3
Show member pathways
11.71 PARP4 PARP3 PARP1
4 11.66 RTN4R RTN4 GFAP
5
Show member pathways
11.49 PARP4 PARP3 PARP2 PARP1
6 11.14 RTN4R RTN4
7
Show member pathways
11.12 PARP4 PARP3 PARP1
8 11.09 PARP4 PARP3
9
Show member pathways
11.05 PARP4 PARP3 PARP2 PARP1
10
Show member pathways
11.01 PARP9 PARP4 PARP16

GO Terms for Osebold-Remondini Syndrome

Cellular components related to Osebold-Remondini Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear envelope GO:0005635 9.33 RTN4 PARP16 PARP1
2 site of DNA damage GO:0090734 8.96 PARP9 PARP1
3 endoplasmic reticulum tubular network GO:0071782 8.62 RTN4 PARP16

Biological processes related to Osebold-Remondini Syndrome according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.85 PARP9 PARP4 PARP3 PARP2 PARP1 PARG
2 DNA repair GO:0006281 9.83 PARP9 PARP4 PARP3 PARP2 PARP1
3 double-strand break repair GO:0006302 9.62 PARP9 PARP3 PARP2 PARP1
4 telomere maintenance GO:0000723 9.55 PARP3 PARP1
5 positive regulation of protein localization to nucleus GO:1900182 9.54 PARP9 PARP1
6 negative regulation of axonogenesis GO:0050771 9.52 RTN4R RTN4
7 negative regulation of axon extension GO:0030517 9.51 RTN4R RTN4
8 NAD biosynthesis via nicotinamide riboside salvage pathway GO:0034356 9.49 PARP9 PARP16
9 positive regulation of double-strand break repair via nonhomologous end joining GO:2001034 9.48 PARP9 PARP3
10 ATP generation from poly-ADP-D-ribose GO:1990966 9.46 PARP1 PARG
11 protein auto-ADP-ribosylation GO:0070213 9.46 PARP3 PARP16 PARP12 PARP1
12 DNA ADP-ribosylation GO:0030592 9.43 PARP3 PARP2 PARP1
13 peptidyl-serine ADP-ribosylation GO:0018312 9.4 PARP2 PARP1
14 protein poly-ADP-ribosylation GO:0070212 9.26 PARP9 PARP3 PARP2 PARP1
15 protein ADP-ribosylation GO:0006471 9.1 PARP9 PARP4 PARP3 PARP2 PARP16 PARP1

Molecular functions related to Osebold-Remondini Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.8 PARP9 PARP4 PARP3 PARP2 PARP16 PARP12
2 transferase activity, transferring glycosyl groups GO:0016757 9.63 PARP4 PARP3 PARP2 PARP16 PARP12 PARP1
3 protein ADP-ribosylase activity GO:1990404 9.43 PARP4 PARP3 PARP2 PARP16 PARP12 PARP1
4 enzyme inhibitor activity GO:0004857 9.32 WDTC1 PARP9
5 NAD+ ADP-ribosyltransferase activity GO:0003950 9.17 PARP9 PARP4 PARP3 PARP2 PARP16 PARP12

Sources for Osebold-Remondini 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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