DCCD
MCID: DRM043
MIFTS: 30

Dermochondrocorneal Dystrophy (DCCD)

Categories: Eye diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Dermochondrocorneal Dystrophy

MalaCards integrated aliases for Dermochondrocorneal Dystrophy:

Name: Dermochondrocorneal Dystrophy 57 19 58
Francois Syndrome 57 19 58
Dermochondrocorneal Dystrophy of François 19
Dermochondrocorneal Dystrophy of Francois 71
Dccd 19

Characteristics:


Inheritance:

Autosomal recessive 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Childhood 58

Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases


External Ids:

OMIM® 57 221800
UMLS via Orphanet 72 C0432288
Orphanet 58 ORPHA79149
MedGen 40 C0432288
UMLS 71 C0432288

Summaries for Dermochondrocorneal Dystrophy

GARD: 19 Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.

MalaCards based summary: Dermochondrocorneal Dystrophy, also known as francois syndrome, is related to fraser syndrome 1 and hallermann-streiff-like syndrome. Affiliated tissues include skin, eye and heart, and related phenotypes are abnormality of the skeletal system and corneal dystrophy

Orphanet: 58 Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.

OMIM®: 57 Dermochondrocorneal dystrophy, or Francois syndrome, is a rare disorder characterized by the development of skin nodules, acquired deformities of the extremities, and a corneal dystrophy. The corneal dystrophy is central and superficial with whitish subepithelial opacities (summary by Bierly et al., 1992). (221800) (Updated 08-Dec-2022)

Related Diseases for Dermochondrocorneal Dystrophy

Diseases related to Dermochondrocorneal Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 fraser syndrome 1 11.2
2 hallermann-streiff-like syndrome 11.2
3 hallermann-streiff syndrome 11.2
4 neuronal ceroid lipofuscinosis 10.1
5 lysosomal storage disease 10.1
6 mucopolysaccharidosis iv 10.1
7 corneal dystrophy 10.1
8 microphthalmia 10.1
9 cataract 10.1
10 chronic bilirubin encephalopathy 10.0
11 apnea, obstructive sleep 9.9
12 fundus albipunctatus 9.9
13 strabismus 9.9
14 hypotrichosis 7 9.9
15 sleep apnea 9.9
16 nanophthalmos 9.9
17 osteonecrosis 9.9
18 entropion 9.9
19 hypotrichosis 9.9
20 fundus dystrophy 9.9
21 inherited retinal disorder 9.9

Graphical network of the top 20 diseases related to Dermochondrocorneal Dystrophy:



Diseases related to Dermochondrocorneal Dystrophy

Symptoms & Phenotypes for Dermochondrocorneal Dystrophy

Human phenotypes related to Dermochondrocorneal Dystrophy:

58 30 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the skeletal system 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000924
2 corneal dystrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001131
3 reduced visual acuity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007663
4 large hands 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001176
5 xanthomatosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000991
6 abnormal foot morphology 30 Hallmark (90%) HP:0001760
7 abnormality of the hand 58 30 Very frequent (99-80%)
HP:0001155
8 gingival overgrowth 30 HP:0000212
9 abnormality of the foot 58 Very frequent (99-80%)
10 skin nodule 30 HP:0200036
11 joint subluxation 30 HP:0032153
12 anterior cortical cataract 30 HP:0007795
13 subepithelial corneal opacities 30 HP:0008039
14 irregular tarsal ossification 30 HP:0008134

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Hands:
joint subluxation
limited hand motion

Head And Neck Eyes:
subepithelial corneal opacities
corneal dystrophy (onset early in childhood)
anterior cortical cataracts
anterior stromal haziness

Skin Nails Hair Skin:
skin nodules - fingers, elbows, nose, ears (onset infancy-childhood)

Skeletal Feet:
joint subluxation
limited feet motion
defective, irregular tarsal ossification

Head And Neck Mouth:
gingival hypertrophy

Clinical features from OMIM®:

221800 (Updated 08-Dec-2022)

Drugs & Therapeutics for Dermochondrocorneal Dystrophy

Search Clinical Trials, NIH Clinical Center for Dermochondrocorneal Dystrophy

Genetic Tests for Dermochondrocorneal Dystrophy

Anatomical Context for Dermochondrocorneal Dystrophy

Organs/tissues related to Dermochondrocorneal Dystrophy:

MalaCards : Skin, Eye, Heart, Liver, Skeletal Muscle, Kidney, Bone

Publications for Dermochondrocorneal Dystrophy

Articles related to Dermochondrocorneal Dystrophy:

(show top 50) (show all 812)
# Title Authors PMID Year
1
Dermochondrocorneal dystrophy (Francois syndrome) in a Mexican patient and literature review. 62 57
26440764 2016
2
Dermochondrocorneal dystrophy (François' syndrome). Report of a case. 62 57
3257860 1988
3
Dermochondral corneal dystrophy (of François). 57
1486084 1992
4
[Familial dermo-chondro-corneal dystrophy (François' syndrome)]. 57
303494 1977
5
[Dystrophia dermo-chondro-cornealis (François)]. 57
4968847 1967
6
[François disease; dystrophia dermo-chondro-cornealis familiaris]. 57
13582732 1958
7
Dermo-chondro-corneal dystrophy; report of a case. 57
13532617 1958
8
Family dermo-chondro-corneal dystrophy. 57
18132892 1949
9
Ribes nigrum L. Extract-Mediated Green Synthesis and Antibacterial Action Mechanisms of Silver Nanoparticles. 62
36290073 2022
10
Biosynthesis of silver nanoparticles using extracts of Stevia rebaudiana and evaluation of antibacterial activity. 62
35989355 2022
11
HyfF subunit of hydrogenase 4 is crucial for regulating FOF1 dependent proton/potassium fluxes during fermentation of various concentrations of glucose. 62
35106641 2022
12
Harnessing the Potential of Bacillus altitudinis MT422188 for Copper Bioremediation. 62
35663894 2022
13
Escherichia coli Dcu C4-dicarboxylate transporters dependent proton and potassium fluxes and FOF1-ATPase activity during glucose fermentation at pH 7.5. 62
34118553 2021
14
The role of Escherichia coli FhlA transcriptional activator in generation of proton motive force and FO F1 -ATPase activity at pH 7.5. 62
33773019 2021
15
NRBF2 is a RAB7 effector required for autophagosome maturation and mediates the association of APP-CTFs with active form of RAB7 for degradation. 62
32543313 2021
16
First detection of doubly deuterated methyl acetylene (CHD2CCH and CH2DCCD)★. 62
34334795 2021
17
Targeting the ATP Synthase in Staphylococcus aureus Small Colony Variants, Streptococcus pyogenes and Pathogenic Fungi. 62
33918382 2021
18
Functional production of an archaeal ATP synthase with a V-type c subunit in Escherichia coli. 62
33460587 2021
19
Flow Cytometry for Detection and Quantification of Micrometastases in Sentinel Lymph Nodes from Patients with Primary Melanoma. 62
32911437 2021
20
F0F1-ATPase Contributes to the Fluoride Tolerance and Cariogenicity of Streptococcus mutans. 62
35173687 2021
21
Combined orthodontic and surgical treatment for a patient with Hallermann-Streiff-Francois syndrome, severe obstructive sleep apnea, and history of antiresorptive medication. 62
33189488 2021
22
External succinate and potassium ions influence Dcu dependent FOF1-ATPase activity and H+ flux of Escherichia coli at different pHs. 62
32700240 2020
23
Electrogenesis in Plasma Membrane Fraction of Halotolerant Microalga Dunaliella maritima and Effects of N,N'-Dicyclohexylcarbodiimide. 62
33045953 2020
24
Comparable antibacterial effects and action mechanisms of silver and iron oxide nanoparticles on Escherichia coli and Salmonella typhimurium. 62
32753725 2020
25
A Na+ A1 AO ATP synthase with a V-type c subunit in a mesophilic bacterium. 62
31876375 2020
26
Formate and potassium ions affect Escherichia coli proton ATPase activity at low pH during mixed carbon fermentation. 62
31856407 2020
27
Slow zeaxanthin accumulation and the enhancement of CP26 collectively contribute to an atypical non-photochemical quenching in macroalga Ulva prolifera under high light. 62
31849051 2020
28
Isn't here just there without a "t" - to what extent can digital Clinical Case Discussions compensate for the absence of face-to-face teaching? 62
33364378 2020
29
Surface-exposed domains of TatB involved in the structural and functional assembly of the Tat translocase in Escherichia coli. 62
31341014 2019
30
Dye- and fluorescence-based assay to characterize symplastic and apoplastic trafficking in soybean (Glycime max L.) endosperm. 62
31549275 2019
31
Antibacterial effects of iron oxide (Fe3O4) nanoparticles: distinguishing concentration-dependent effects with different bacterial cells growth and membrane-associated mechanisms. 62
30706116 2019
32
Evidence for Escherichia coli DcuD carrier dependent FOF1-ATPase activity during fermentation of glycerol. 62
30862913 2019
33
Understanding the Role of Escherichia coli Hydrogenases and Formate Dehydrogenases in the FO F1 -ATPase Activity during the Mixed Acid Fermentation of Mixture of Carbon Sources. 62
30161297 2018
34
A Combined Experimental and Computational Study on the Reaction Dynamics of the 1-Propynyl (CH3CC)-Acetylene (HCCH) System and the Formation of Methyldiacetylene (CH3CCCCH). 62
30032608 2018
35
The Effects of Low Doses of Gamma-Radiation on Growth and Membrane Activity of Pseudomonas aeruginosa GRP3 and Escherichia coli M17. 62
29039057 2018
36
The sentinel lymph node spread determines quantitatively melanoma seeding to non-sentinel lymph nodes and survival. 62
29316475 2018
37
Non-bilayer structures in mitochondrial membranes regulate ATP synthase activity. 62
29179995 2018
38
Structural features of the TatC membrane protein that determine docking and insertion of a twin-arginine signal peptide. 62
29089385 2017
39
Derivation and Implementation of a Protocol in Israel for Organ Donation after Cardio-Circulatory Death. 62
28971641 2017
40
Kinetic properties of the mitochondrial F1FO-ATPase activity elicited by Ca2+ in replacement of Mg2. 62
28652018 2017
41
Biohydrogen production by purple non-sulfur bacteria Rhodobacter sphaeroides: Effect of low-intensity electromagnetic irradiation. 62
27479839 2016
42
Effect of aromatic ring fluorination on CHπ interactions: microwave spectrum and structure of the 1,2-difluorobenzeneacetylene dimer. 62
27530245 2016
43
Ophthalmologic manifestations of Hallermann-Streiff-Francois syndrome: report of four cases. 62
27472202 2016
44
The Possible Role of Nonbilayer Structures in Regulating ATP Synthase Activity in Mitochondrial Membranes. 62
28065984 2016
45
Plasma pharmacokinetics of ceftiofur metabolite desfuroylceftiofur cysteine disulfide in holstein steers: application of nonlinear mixed-effects modeling. 62
26112893 2016
46
Dissolved inorganic carbon uptake in Thiomicrospira crunogena XCL-2 is Δp- and ATP-sensitive and enhances RubisCO-mediated carbon fixation. 62
26581415 2016
47
Seahorse Xfe 24 Extracellular Flux Analyzer-Based Analysis of Cellular Respiration in Caenorhabditis elegans. 62
26523474 2015
48
Effects of various heavy metal nanoparticles on Enterococcus hirae and Escherichia coli growth and proton-coupled membrane transport. 62
26474562 2015
49
Acetylene as an essential building block for prebiotic formation of pyrimidine bases on Titan. 62
26325173 2015
50
Redox stress in geobacilli from geothermal springs: Phenomenon and membrane-associated response mechanisms. 62
25889504 2015

Variations for Dermochondrocorneal Dystrophy

Expression for Dermochondrocorneal Dystrophy

Search GEO for disease gene expression data for Dermochondrocorneal Dystrophy.

Pathways for Dermochondrocorneal Dystrophy

GO Terms for Dermochondrocorneal Dystrophy

Sources for Dermochondrocorneal Dystrophy

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 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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