BDD
MCID: BRC062
MIFTS: 43

Brachydactyly, Type D (BDD)

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

Aliases & Classifications for Brachydactyly, Type D

MalaCards integrated aliases for Brachydactyly, Type D:

Name: Brachydactyly, Type D 57 13 55 40 73
Bdd 57 12 75
Brachydactyly Type D 12 15
Type D Brachydactyly 29 6
Stub Thumb 57 75
Brachydactyly D 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
brachydactyly, type d:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 113200
Disease Ontology 12 DOID:0110971
MedGen 42 C0220664
MeSH 44 D059327
SNOMED-CT via HPO 69 263681008
UMLS 73 C0220664

Summaries for Brachydactyly, Type D

UniProtKB/Swiss-Prot : 75 Brachydactyly D: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type D is characterized by short and broad terminal phalanges of the thumbs and big toes.

MalaCards based summary : Brachydactyly, Type D, also known as bdd, is related to hirschsprung disease with type d brachydactyly and viljoen kallis voges syndrome. An important gene associated with Brachydactyly, Type D is HOXD13 (Homeobox D13), and among its related pathways/superpathways are Formation of Fibrin Clot (Clotting Cascade) and Integrin alphaIIb beta3 signaling. Affiliated tissues include bone, heart and eye, and related phenotypes are broad distal phalanx of the thumb and type d brachydactyly

Disease Ontology : 12 A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1.

Wikipedia : 76 Stub thumb is a condition clinically recognised by a thumb being relatively short and round with an... more...

Description from OMIM: 113200

Related Diseases for Brachydactyly, Type D

Diseases in the Brachydactyly family:

Brachydactyly, Type A1 Brachydactyly, Type A2
Brachydactyly, Type A3 Brachydactyly, Type A4
Brachydactyly, Type B1 Brachydactyly, Type C
Brachydactyly, Type D Brachydactyly, Type E1
Brachydactyly, Type A1, B Brachydactyly, Type B2
Brachydactyly, Type E2 Brachydactyly, Type A1, C
Brachydactyly, Type A1, D Brachydactyly Type A5
Brachydactyly Type A7

Diseases related to Brachydactyly, Type D via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 hirschsprung disease with type d brachydactyly 12.6
2 viljoen kallis voges syndrome 11.7
3 body dysmorphic disorder 11.7
4 symphalangism with multiple anomalies of hands and feet 11.1
5 brachydactyly 10.3
6 obsessive-compulsive disorder 10.2
7 pfeiffer syndrome 10.2
8 fournier gangrene 10.1 F2 F8
9 alcohol-related birth defect 10.1 F2 F8
10 vitamin k deficiency hemorrhagic disease 10.1 F2 F8
11 cardiac tamponade 10.1 F2 F8
12 livedoid vasculitis 10.1 F2 F8
13 thrombophlebitis 10.1 F2 F8
14 post-thrombotic syndrome 10.1 F2 F8
15 compartment syndrome 10.1 F2 F8
16 retinal artery occlusion 10.1 F2 F8
17 vein disease 10.1 F2 F8
18 factor vii deficiency 10.1 F2 F8
19 hemophilia b 10.1 F2 F8
20 psychotic disorder 10.0
21 fainting 10.0 F8 VWF
22 cerebral arteritis 10.0 F8 VWF
23 acquired von willebrand syndrome 10.0 F8 VWF
24 hemarthrosis 10.0 F8 VWF
25 intracranial thrombosis 10.0 F8 VWF
26 qualitative platelet defect 10.0 F2 VWF
27 active peptic ulcer disease 10.0 F2 VWF
28 korean hemorrhagic fever 10.0 F2 VWF
29 hemophilia a 10.0 F8 VWF
30 von willebrand disease, type 3 10.0 F8 VWF
31 lymphangiosarcoma 10.0 F8 VWF
32 von willebrand disease, type 2 10.0 F8 VWF
33 spotted fever 9.9 F2 VWF
34 hepatic vascular disease 9.9 F2 VWF
35 venous insufficiency 9.9 F2 VWF
36 intermittent claudication 9.9 F2 VWF
37 factor x deficiency 9.9 F2 VWF
38 afibrinogenemia, congenital 9.9 F2 VWF
39 varicose veins 9.9 F2 VWF
40 antiphospholipid syndrome 9.9 F2 VWF
41 pulmonary embolism 9.9 F2 VWF
42 peripheral vascular disease 9.9 F2 VWF
43 portal hypertension 9.9 F2 VWF
44 purpura 9.8 F2 VWF
45 von willebrand disease, type 1 9.8 F2 F8 VWF
46 factor viii deficiency 9.8 F2 F8 VWF
47 inherited blood coagulation disease 9.8 F2 F8 VWF
48 blood coagulation disease 9.8 F2 F8 VWF
49 hemophilia 9.8 F2 F8 VWF
50 thrombophilia 9.8 F2 F8 VWF

Graphical network of the top 20 diseases related to Brachydactyly, Type D:



Diseases related to Brachydactyly, Type D

Symptoms & Phenotypes for Brachydactyly, Type D

Symptoms via clinical synopsis from OMIM:

57
Limbs:
brachydactyly
short and broad distal phalanges of thumbs and great toes

Radiology:
obliterated epiphyseal line at base of distal thumb phalanx

Growth:
normal


Clinical features from OMIM:

113200

Human phenotypes related to Brachydactyly, Type D:

32
# Description HPO Frequency HPO Source Accession
1 broad distal phalanx of the thumb 32 HP:0009642
2 type d brachydactyly 32 HP:0005627
3 broad distal phalanx of the hallux 32 HP:0010077

MGI Mouse Phenotypes related to Brachydactyly, Type D:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 8.92 F2 FURIN HOXD13 VWF

Drugs & Therapeutics for Brachydactyly, Type D

Search Clinical Trials , NIH Clinical Center for Brachydactyly, Type D

Genetic Tests for Brachydactyly, Type D

Genetic tests related to Brachydactyly, Type D:

# Genetic test Affiliating Genes
1 Type D Brachydactyly 29 HOXD13

Anatomical Context for Brachydactyly, Type D

MalaCards organs/tissues related to Brachydactyly, Type D:

41
Bone, Heart, Eye

Publications for Brachydactyly, Type D

Articles related to Brachydactyly, Type D:

(show top 50) (show all 78)
# Title Authors Year
1
A Novel System to Measure Infants' Nutritive Sucking During Breastfeeding: the Breastfeeding Diagnostic Device (BDD). ( 29888144 )
2018
2
Ultrasound enhanced electrochemical oxidation of Alizarin Red S on boron doped diamond(BDD) anode:Effect of degradation process parameters. ( 29958164 )
2018
3
Electrochemical activation of sulfate by BDD anode in basic medium for efficient removal of organic pollutants. ( 30025370 )
2018
4
Cytostatic drug removal using electrochemical oxidation with BDD electrode: Degradation pathway and toxicity. ( 30032020 )
2018
5
Fenton-based electrochemical degradation of metolachlor in aqueous solution by means of BDD and Pt electrodes: influencing factors and reaction pathways. ( 30474812 )
2018
6
Experimental data on the degradation of caffeine by photo-electro-fenton using BDD electrodes at pilot plant. ( 30505905 )
2018
7
Influence of bridging groups on the photovoltaic properties of wide bandgap poly(BDTT-alt-BDD)s. ( 30516954 )
2018
8
Electro-Fenton oxidation of para-aminosalicylic acid: degradation kinetics and mineralization pathway using Pt/carbon-felt and BDD/carbon-felt cells. ( 28567674 )
2018
9
Electrochemical activation of persulfates at BDD anode: Radical or nonradical oxidation? ( 29127807 )
2018
10
Electrochemical inactivation of Microcystis aeruginosa using BDD electrodes: Kinetic modeling of microcystins release and degradation. ( 29247956 )
2018
11
BDD anodic treatment of 6:2 fluorotelomer sulfonate (6:2 FTSA). Evaluation of operating variables and by-product formation. ( 29533807 )
2018
12
Electrochemical degradation of 5-FU using a flow reactor with BDD electrode: Comparison of two electrochemical systems. ( 29554628 )
2018
13
Electrochemical treatment of aqueous solutions of organic pollutants by electro-Fenton with natural heterogeneous catalysts under pressure using Ti/IrO2-Ta2O5 or BDD anodes. ( 29558664 )
2018
14
The Better Diabetes Diagnosis (BDD) study - A review of a nationwide prospective cohort study in Sweden. ( 29626585 )
2018
15
Maximization of current efficiency for organic pollutants oxidation at BDD, Ti/SnO2-Sb/PbO2, and Ti/SnO2-Sb anodes. ( 29704843 )
2018
16
Comparative study for degradation of industrial dyes by electrochemical advanced oxidation processes with BDD anode in a laboratory stirred tank reactor. ( 29729622 )
2018
17
The effect of the supporting electrolyte on the electrooxidation of enrofloxacin using a flow cell with a BDD anode: Kinetics and follow-up of oxidation intermediates and antimicrobial activity. ( 29783052 )
2018
18
Treatment of winery wastewater by anodic oxidation using BDD electrode. ( 29783056 )
2018
19
Attentional biases in body dysmorphic disorder (BDD): Eye-tracking using the emotional Stroop task. ( 28167328 )
2017
20
Nitrate and carbon matter removals from real effluents using Si/BDD electrode. ( 27623854 )
2017
21
Degradation pathways of aniline in aqueous solutions during electro-oxidation with BDD electrodes and UV/H2O2 treatment. ( 27697712 )
2017
22
Definitive screening design applied to electrochemical degradation of Chromotrope 2R with BDD anodes. ( 28030788 )
2017
23
Enhancing the performance of electro-peroxone by incorporation of UV irradiation and BDD anodes. ( 28097924 )
2017
24
The power within: The experimental manipulation of power interacts with trait BDD symptoms to predict interoceptive accuracy. ( 26295932 )
2016
25
Statistical investigation on the role of supporting electrolytes during NTA degradation on BDD anodes. ( 26578372 )
2016
26
Charge Separation in TiO2/BDD Heterojunction Thin Film for Enhanced Photoelectrochemical Performance. ( 26756353 )
2016
27
A comparative study of microcystin-LR degradation by electrogenerated oxidants at BDD and MMO anodes. ( 27677119 )
2016
28
Yale-Brown Obsessive Compulsive Scale modified for Body Dysmorphic Disorder (BDD-YBOCS): Brazilian Portuguese translation, cultural adaptation and validation. ( 26692429 )
2015
29
Effluent characteristics of advanced treatment for biotreated coking wastewater by electrochemical technology using BDD anodes. ( 25432427 )
2015
30
Study of degradation intermediates formed during electrochemical oxidation of pesticide residue 2,6-dichlorobenzamide (BAM) in chloride medium at boron doped diamond (BDD) and platinum anodes. ( 25465959 )
2015
31
A wind-powered BDD electrochemical oxidation process for the removal of herbicides. ( 25950835 )
2015
32
Simultaneous Voltammetric/Amperometric Determination of Sulfide and Nitrite in Water at BDD Electrode. ( 26102487 )
2015
33
Highly Sensitive Measurement of Bio-Electric Potentials by Boron-Doped Diamond (BDD) Electrodes for Plant Monitoring. ( 26512663 )
2015
34
Coupling of solar photoelectro-Fenton with a BDD anode and solar heterogeneous photocatalysis for the mineralization of the herbicide atrazine. ( 24231044 )
2014
35
Electro-Fenton degradation of the antibiotic sulfanilamide with Pt/carbon-felt and BDD/carbon-felt cells. Kinetics, reaction intermediates, and toxicity assessment. ( 24687785 )
2014
36
Sequential treatment of diluted olive pomace leachate by digestion in a pilot scale UASB reactor and BDD electrochemical oxidation. ( 24704905 )
2014
37
Degrading a mixture of three textile dyes using photo-assisted electrochemical process with BDD anode and O₂-diffusion cathode. ( 24723345 )
2014
38
Electrochemical incineration of indigo. A comparative study between 2D (plate) and 3D (mesh) BDD anodes fitted into a filter-press reactor. ( 24737017 )
2014
39
Recent updates on electrochemical degradation of bio-refractory organic pollutants using BDD anode: a mini review. ( 24777320 )
2014
40
Coupling digestion in a pilot-scale UASB reactor and electrochemical oxidation over BDD anode to treat diluted cheese whey. ( 24793070 )
2014
41
Study of degradation intermediates formed during electrochemical oxidation of pesticide residue 2,6-dichlorobenzamide (BAM) at boron doped diamond (BDD) and platinum-iridium anodes. ( 24873711 )
2014
42
Rapid establishment of a HEK 293 cell line expressing FVIII-BDD using AAV site-specific integration plasmids. ( 25204455 )
2014
43
Electrochemical degradation of sulfonamides at BDD electrode: kinetics, reaction pathway and eco-toxicity evaluation. ( 25215656 )
2014
44
Synthesis of iodobiaryls and dibenzofurans by direct coupling at BDD anodes. ( 25426731 )
2014
45
Electrochemical oxidation of imazapyr with BDD electrode in titanium substrate. ( 25461923 )
2014
46
Nonsyndromic brachydactyly type D and type E mapped to 7p15 in healthy children and adults from the Jirel ethnic group in eastern Nepal. ( 24022874 )
2013
47
Electrochemical degradation of the antibiotic sulfachloropyridazine by hydroxyl radicals generated at a BDD anode. ( 23541359 )
2013
48
Electrochemical DNA biosensor based on the BDD nanograss array electrode. ( 23575250 )
2013
49
Evaluation of the efficiency of monopolar and bipolar BDD electrodes for electrochemical oxidation of anthraquinone textile synthetic effluent for reuse. ( 23916748 )
2013
50
Highly efficient and mild electrochemical mineralization of long-chain perfluorocarboxylic acids (C9-C10) by Ti/SnO2-Sb-Ce, Ti/SnO2-Sb/Ce-PbO2, and Ti/BDD electrodes. ( 24164589 )
2013

Variations for Brachydactyly, Type D

UniProtKB/Swiss-Prot genetic disease variations for Brachydactyly, Type D:

75
# Symbol AA change Variation ID SNP ID
1 HOXD13 p.Ser316Cys VAR_015952 rs28928892

ClinVar genetic disease variations for Brachydactyly, Type D:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HOXD13 NM_000523.3(HOXD13): c.964A> C (p.Ile322Leu) single nucleotide variant Pathogenic rs28928891 GRCh37 Chromosome 2, 176959390: 176959390
2 HOXD13 NM_000523.3(HOXD13): c.964A> C (p.Ile322Leu) single nucleotide variant Pathogenic rs28928891 GRCh38 Chromosome 2, 176094662: 176094662
3 HOXD13 NM_000523.3(HOXD13): c.947C> G (p.Ser316Cys) single nucleotide variant Pathogenic rs28928892 GRCh37 Chromosome 2, 176959373: 176959373
4 HOXD13 NM_000523.3(HOXD13): c.947C> G (p.Ser316Cys) single nucleotide variant Pathogenic rs28928892 GRCh38 Chromosome 2, 176094645: 176094645

Expression for Brachydactyly, Type D

Search GEO for disease gene expression data for Brachydactyly, Type D.

Pathways for Brachydactyly, Type D

GO Terms for Brachydactyly, Type D

Cellular components related to Brachydactyly, Type D according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi lumen GO:0005796 8.96 F2 FURIN
2 platelet alpha granule lumen GO:0031093 8.62 F8 VWF

Biological processes related to Brachydactyly, Type D according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.43 F2 F8 VWF
2 response to wounding GO:0009611 9.37 F2 VWF
3 platelet activation GO:0030168 9.33 F2 F8 VWF
4 acute-phase response GO:0006953 9.32 F2 F8
5 hemostasis GO:0007599 9.13 F2 F8 VWF
6 blood coagulation, intrinsic pathway GO:0007597 8.8 F2 F8 VWF

Molecular functions related to Brachydactyly, Type D according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 8.62 FURIN VWF

Sources for Brachydactyly, Type D

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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