BDD
MCID: BRC062
MIFTS: 42

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 58 13 56 41 74
Bdd 58 12 76
Brachydactyly Type D 12 15
Type D Brachydactyly 30 6
Stub Thumb 58 76
Brachydactyly D 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
brachydactyly, type d:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110971
OMIM 58 113200
MeSH 45 D059327
MedGen 43 C0220664
SNOMED-CT via HPO 70 263681008
UMLS 74 C0220664

Summaries for Brachydactyly, Type D

UniProtKB/Swiss-Prot : 76 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 Gamma carboxylation, hypusine formation and arylsulfatase activation and Formation of Fibrin Clot (Clotting Cascade). Affiliated tissues include bone, eye and heart, 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 : 77 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 64)
# Related Disease Score Top Affiliating Genes
1 hirschsprung disease with type d brachydactyly 12.7
2 viljoen kallis voges syndrome 11.8
3 body dysmorphic disorder 11.8
4 symphalangism with multiple anomalies of hands and feet 11.2
5 brachydactyly 10.3
6 obsessive-compulsive disorder 10.2
7 intraocular pressure quantitative trait locus 10.2
8 fournier gangrene 10.2 F2 F8
9 pfeiffer syndrome 10.2
10 alcohol-related birth defect 10.2 F2 F8
11 cardiac tamponade 10.2 F2 F8
12 livedoid vasculitis 10.2 F2 F8
13 thrombophlebitis 10.2 F2 F8
14 post-thrombotic syndrome 10.2 F2 F8
15 compartment syndrome 10.2 F2 F8
16 fainting 10.2 F8 VWF
17 cerebral arteritis 10.2 F8 VWF
18 retinal artery occlusion 10.2 F2 F8
19 acquired von willebrand syndrome 10.1 F8 VWF
20 hemarthrosis 10.1 F8 VWF
21 intracranial thrombosis 10.1 F8 VWF
22 qualitative platelet defect 10.1 F2 VWF
23 vein disease 10.1 F2 F8
24 active peptic ulcer disease 10.1 F2 VWF
25 factor vii deficiency 10.1 F2 F8
26 korean hemorrhagic fever 10.1 F2 VWF
27 hemophilia b 10.1 F2 F8
28 hemophilia a 10.1 F8 VWF
29 von willebrand disease, type 3 10.1 F8 VWF
30 lymphangiosarcoma 10.1 F8 VWF
31 von willebrand disease, type 2 10.1 F8 VWF
32 spotted fever 10.1 F2 VWF
33 hepatic vascular disease 10.1 F2 VWF
34 psychotic disorder 10.1
35 venous insufficiency 10.1 F2 VWF
36 intermittent claudication 10.0 F2 VWF
37 factor x deficiency 10.0 F2 VWF
38 afibrinogenemia, congenital 10.0 F2 VWF
39 varicose veins 10.0 F2 VWF
40 antiphospholipid syndrome 10.0 F2 VWF
41 pulmonary embolism 10.0 F2 VWF
42 peripheral vascular disease 10.0 F2 VWF
43 portal hypertension 10.0 F2 VWF
44 purpura 9.9 F2 VWF
45 brachydactyly, type e1 9.9
46 von willebrand disease, type 1 9.9 F2 F8 VWF
47 factor viii deficiency 9.9 F2 F8 VWF
48 inherited blood coagulation disease 9.9 F2 F8 VWF
49 blood coagulation disease 9.9 F2 F8 VWF
50 hemophilia 9.9 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

Human phenotypes related to Brachydactyly, Type D:

33
# Description HPO Frequency HPO Source Accession
1 broad distal phalanx of the thumb 33 HP:0009642
2 type d brachydactyly 33 HP:0005627
3 broad distal phalanx of the hallux 33 HP:0010077

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Brachydactyly, Type D:

47
# 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 30 HOXD13

Anatomical Context for Brachydactyly, Type D

MalaCards organs/tissues related to Brachydactyly, Type D:

42
Bone, Eye, Heart

Publications for Brachydactyly, Type D

Articles related to Brachydactyly, Type D:

(show top 50) (show all 98)
# Title Authors Year
1
Long-term outcome of therapist-guided internet-based cognitive behavioural therapy for body dysmorphic disorder (BDD-NET): a naturalistic 2-year follow-up after a randomised controlled trial. ( 30647044 )
2019
2
Fenton-based electrochemical degradation of metolachlor in aqueous solution by means of BDD and Pt electrodes: influencing factors and reaction pathways. ( 30474812 )
2019
3
Influence of Bridging Groups on the Photovoltaic Properties of Wide-Bandgap Poly(BDTT- alt-BDD)s. ( 30516954 )
2019
4
Electrooxidation Using Nb/BDD as Post-Treatment of a Reverse Osmosis Concentrate in the Petrochemical Industry. ( 30845691 )
2019
5
Corrigendum to "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" [Chemosphere 206 (2018) 674-681]. ( 30878155 )
2019
6
Electrochemical degradation of ciprofloxacin on BDD anode using a differential column batch reactor: mechanisms, kinetics and pathways. ( 31030395 )
2019
7
Electro-Fenton oxidation of para-aminosalicylic acid: degradation kinetics and mineralization pathway using Pt/carbon-felt and BDD/carbon-felt cells. ( 28567674 )
2018
8
Electrochemical activation of persulfates at BDD anode: Radical or nonradical oxidation? ( 29127807 )
2018
9
Electrochemical inactivation of Microcystis aeruginosa using BDD electrodes: Kinetic modeling of microcystins release and degradation. ( 29247956 )
2018
10
Degradation of atrazine by electrochemically activated persulfate using BDD anode: Role of radicals and influencing factors. ( 29268181 )
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
A Novel System to Measure Infants' Nutritive Sucking During Breastfeeding: the Breastfeeding Diagnostic Device (BDD). ( 29888144 )
2018
20
Ultrasound enhanced electrochemical oxidation of Alizarin Red S on boron doped diamond(BDD) anode:Effect of degradation process parameters. ( 29958164 )
2018
21
Electrochemical activation of sulfate by BDD anode in basic medium for efficient removal of organic pollutants. ( 30025370 )
2018
22
Cytostatic drug removal using electrochemical oxidation with BDD electrode: Degradation pathway and toxicity. ( 30032020 )
2018
23
Experimental data on the degradation of caffeine by photo-electro-fenton using BDD electrodes at pilot plant. ( 30505905 )
2018
24
Nitrate and carbon matter removals from real effluents using Si/BDD electrode. ( 27623854 )
2017
25
Degradation pathways of aniline in aqueous solutions during electro-oxidation with BDD electrodes and UV/H2O2 treatment. ( 27697712 )
2017
26
Definitive screening design applied to electrochemical degradation of Chromotrope 2R with BDD anodes. ( 28030788 )
2017
27
Enhancing the performance of electro-peroxone by incorporation of UV irradiation and BDD anodes. ( 28097924 )
2017
28
Flexible Boron-Doped Diamond (BDD) Electrodes for Plant Monitoring. ( 28714895 )
2017
29
Insight in body dysmorphic disorder (BDD) relative to obsessive-compulsive disorder (OCD) and psychotic disorders: Revisiting this issue in light of DSM-5. ( 28651226 )
2017
30
How individuals with body dysmorphic disorder (BDD) process their own face: a quantitative and qualitative investigation based on an eye-tracking paradigm. ( 28322616 )
2017
31
Attentional biases in body dysmorphic disorder (BDD): Eye-tracking using the emotional Stroop task. ( 28167328 )
2017
32
The power within: The experimental manipulation of power interacts with trait BDD symptoms to predict interoceptive accuracy. ( 26295932 )
2016
33
Statistical investigation on the role of supporting electrolytes during NTA degradation on BDD anodes. ( 26578372 )
2016
34
Charge Separation in TiO2/BDD Heterojunction Thin Film for Enhanced Photoelectrochemical Performance. ( 26756353 )
2016
35
The ability of electrochemical oxidation with a BDD anode to inactivate Gram-negative and Gram-positive bacteria in low conductivity sulfate medium. ( 27567151 )
2016
36
A comparative study of microcystin-LR degradation by electrogenerated oxidants at BDD and MMO anodes. ( 27677119 )
2016
37
Suicidality in body dysmorphic disorder (BDD): A systematic review with meta-analysis. ( 27607741 )
2016
38
Effluent characteristics of advanced treatment for biotreated coking wastewater by electrochemical technology using BDD anodes. ( 25432427 )
2015
39
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
40
A wind-powered BDD electrochemical oxidation process for the removal of herbicides. ( 25950835 )
2015
41
Simultaneous Voltammetric/Amperometric Determination of Sulfide and Nitrite in Water at BDD Electrode. ( 26102487 )
2015
42
Highly Sensitive Measurement of Bio-Electric Potentials by Boron-Doped Diamond (BDD) Electrodes for Plant Monitoring. ( 26512663 )
2015
43
Yale-Brown Obsessive Compulsive Scale modified for Body Dysmorphic Disorder (BDD-YBOCS): Brazilian Portuguese translation, cultural adaptation and validation. ( 26692429 )
2015
44
Can understanding the neurobiology of body dysmorphic disorder (BDD) inform treatment? ( 26129816 )
2015
45
Electro-Fenton degradation of the antibiotic sulfanilamide with Pt/carbon-felt and BDD/carbon-felt cells. Kinetics, reaction intermediates, and toxicity assessment. ( 24687785 )
2014
46
Sequential treatment of diluted olive pomace leachate by digestion in a pilot scale UASB reactor and BDD electrochemical oxidation. ( 24704905 )
2014
47
Degrading a mixture of three textile dyes using photo-assisted electrochemical process with BDD anode and O₂-diffusion cathode. ( 24723345 )
2014
48
Electrochemical incineration of indigo. A comparative study between 2D (plate) and 3D (mesh) BDD anodes fitted into a filter-press reactor. ( 24737017 )
2014
49
Recent updates on electrochemical degradation of bio-refractory organic pollutants using BDD anode: a mini review. ( 24777320 )
2014
50
Coupling digestion in a pilot-scale UASB reactor and electrochemical oxidation over BDD anode to treat diluted cheese whey. ( 24793070 )
2014

Variations for Brachydactyly, Type D

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

76
# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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