Dermochondrocorneal Dystrophy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases Skin diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare eye diseases

Rare skin diseases

External Ids:

OMIM® ⁵⁷ 221800

UMLS via Orphanet ⁷² C0432288

Orphanet ⁵⁸ ORPHA79149

MedGen ⁴⁰ C0432288

SNOMED-CT via HPO ⁶⁹ 13164000 229844004 249752003 more

UMLS ⁷¹ C0432288

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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)

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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
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:

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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)

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Drugs & Therapeutics for Dermochondrocorneal Dystrophy

Search Clinical Trials, NIH Clinical Center for Dermochondrocorneal Dystrophy

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Genetic Tests for Dermochondrocorneal Dystrophy

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Anatomical Context for Dermochondrocorneal Dystrophy

Organs/tissues related to Dermochondrocorneal Dystrophy:

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

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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	Hidalgo-Bravo A...Kramis-Hollands M	26440764	2016
2	Dermochondrocorneal dystrophy (François' syndrome). Report of a case. ⁶² ⁵⁷	Caputo R...Ratiglia R	3257860	1988
3	Dermochondral corneal dystrophy (of François). ⁵⁷	Bierly JR...Volpicelli M	1486084	1992
4	[Familial dermo-chondro-corneal dystrophy (François' syndrome)]. ⁵⁷	Ruiz-Maldonado R...Velazquez E	303494	1977
5	[Dystrophia dermo-chondro-cornealis (François)]. ⁵⁷	Remky H...Engelbrecht G	4968847	1967
6	[François disease; dystrophia dermo-chondro-cornealis familiaris]. ⁵⁷	WIEDEMANN HR	13582732	1958
7	Dermo-chondro-corneal dystrophy; report of a case. ⁵⁷	JENSEN VJ	13532617	1958
8	Family dermo-chondro-corneal dystrophy. ⁵⁷	FRANCOIS J	18132892	1949
9	Ribes nigrum L. Extract-Mediated Green Synthesis and Antibacterial Action Mechanisms of Silver Nanoparticles. ⁶²	Hovhannisyan Z...Nasim MJ	36290073	2022
10	Biosynthesis of silver nanoparticles using extracts of Stevia rebaudiana and evaluation of antibacterial activity. ⁶²	Timotina M...Gabrielyan L	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	Vanyan L...Trchounian K	35106641	2022
12	Harnessing the Potential of Bacillus altitudinis MT422188 for Copper Bioremediation. ⁶²	Khan M...Shamim S	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	Karapetyan L...Trchounian K	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	Gevorgyan H...Trchounian K	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	Cai CZ...Lu JH	32543313	2021
16	First detection of doubly deuterated methyl acetylene (CHD2CCH and CH2DCCD)★. ⁶²	Agundez M...Marcelino N	34334795	2021
17	Targeting the ATP Synthase in Staphylococcus aureus Small Colony Variants, Streptococcus pyogenes and Pathogenic Fungi. ⁶²	Vestergaard M...Ingmer H	33918382	2021
18	Functional production of an archaeal ATP synthase with a V-type c subunit in Escherichia coli. ⁶²	Westphal L...Muller V	33460587	2021
19	Flow Cytometry for Detection and Quantification of Micrometastases in Sentinel Lymph Nodes from Patients with Primary Melanoma. ⁶²	Hellmich L...Ulmer A	32911437	2021
20	F0F1-ATPase Contributes to the Fluoride Tolerance and Cariogenicity of Streptococcus mutans. ⁶²	Li C...Peng X	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	Sondeijker CFW...Maertens JKM	33189488	2021
22	External succinate and potassium ions influence Dcu dependent FOF1-ATPase activity and H+ flux of Escherichia coli at different pHs. ⁶²	Mikoyan G...Trchounian K	32700240	2020
23	Electrogenesis in Plasma Membrane Fraction of Halotolerant Microalga Dunaliella maritima and Effects of N,N'-Dicyclohexylcarbodiimide. ⁶²	Popova LG...Balnokin YV	33045953	2020
24	Comparable antibacterial effects and action mechanisms of silver and iron oxide nanoparticles on Escherichia coli and Salmonella typhimurium. ⁶²	Gabrielyan L...Trchounian A	32753725	2020
25	A Na+ A1 AO ATP synthase with a V-type c subunit in a mesophilic bacterium. ⁶²	Litty D...Muller V	31876375	2020
26	Formate and potassium ions affect Escherichia coli proton ATPase activity at low pH during mixed carbon fermentation. ⁶²	Gevorgyan H...Trchounian K	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	Gao S...Wang G	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	Zottmann JM...Weidenbusch M	33364378	2020
29	Surface-exposed domains of TatB involved in the structural and functional assembly of the Tat translocase in Escherichia coli. ⁶²	Frobel J...Muller M	31341014	2019
30	Dye- and fluorescence-based assay to characterize symplastic and apoplastic trafficking in soybean (Glycime max L.) endosperm. ⁶²	Shih MD...Hsing YC	31549275	2019
31	Antibacterial effects of iron oxide (Fe3O4) nanoparticles: distinguishing concentration-dependent effects with different bacterial cells growth and membrane-associated mechanisms. ⁶²	Gabrielyan L...Trchounian A	30706116	2019
32	Evidence for Escherichia coli DcuD carrier dependent FOF1-ATPase activity during fermentation of glycerol. ⁶²	Karapetyan L...Trchounian K	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	Gevorgyan H...Trchounian K	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	Thomas AM...Kaiser RI	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	Soghomonyan D...Trchounian A	29039057	2018
36	The sentinel lymph node spread determines quantitatively melanoma seeding to non-sentinel lymph nodes and survival. ⁶²	Ulmer A...Klein CA	29316475	2018
37	Non-bilayer structures in mitochondrial membranes regulate ATP synthase activity. ⁶²	Gasanov SE...Dagda RK	29179995	2018
38	Structural features of the TatC membrane protein that determine docking and insertion of a twin-arginine signal peptide. ⁶²	Blummel AS...Frobel J	29089385	2017
39	Derivation and Implementation of a Protocol in Israel for Organ Donation after Cardio-Circulatory Death. ⁶²	Cohen J...Ashkenazi T	28971641	2017
40	Kinetic properties of the mitochondrial F1FO-ATPase activity elicited by Ca2+ in replacement of Mg2. ⁶²	Nesci S...Pagliarani A	28652018	2017
41	Biohydrogen production by purple non-sulfur bacteria Rhodobacter sphaeroides: Effect of low-intensity electromagnetic irradiation. ⁶²	Gabrielyan L...Trchounian A	27479839	2016
42	Effect of aromatic ring fluorination on CHπ interactions: microwave spectrum and structure of the 1,2-difluorobenzeneacetylene dimer. ⁶²	Akmeemana AG...Pate BH	27530245	2016
43	Ophthalmologic manifestations of Hallermann-Streiff-Francois syndrome: report of four cases. ⁶²	Pasyanthi B...Kekunnaya R	27472202	2016
44	The Possible Role of Nonbilayer Structures in Regulating ATP Synthase Activity in Mitochondrial Membranes. ⁶²	Gasanov SE...Dagda RK	28065984	2016
45	Plasma pharmacokinetics of ceftiofur metabolite desfuroylceftiofur cysteine disulfide in holstein steers: application of nonlinear mixed-effects modeling. ⁶²	Chiesa OA...Qiu J	26112893	2016
46	Dissolved inorganic carbon uptake in Thiomicrospira crunogena XCL-2 is Δp- and ATP-sensitive and enhances RubisCO-mediated carbon fixation. ⁶²	Menning KJ...Scott KM	26581415	2016
47	Seahorse Xfe 24 Extracellular Flux Analyzer-Based Analysis of Cellular Respiration in Caenorhabditis elegans. ⁶²	Luz AL...Meyer JN	26523474	2015
48	Effects of various heavy metal nanoparticles on Enterococcus hirae and Escherichia coli growth and proton-coupled membrane transport. ⁶²	Vardanyan Z...Trchounian A	26474562	2015
49	Acetylene as an essential building block for prebiotic formation of pyrimidine bases on Titan. ⁶²	Jeilani YA...Nguyen MT	26325173	2015
50	Redox stress in geobacilli from geothermal springs: Phenomenon and membrane-associated response mechanisms. ⁶²	Ghazaryan A...Trchounian A	25889504	2015

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Genes for Dermochondrocorneal Dystrophy

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Variations for Dermochondrocorneal Dystrophy

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Expression for Dermochondrocorneal Dystrophy

Search GEO for disease gene expression data for Dermochondrocorneal Dystrophy.

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Pathways for Dermochondrocorneal Dystrophy

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GO Terms for Dermochondrocorneal Dystrophy

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Sources for Dermochondrocorneal Dystrophy

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DCCD MCID: DRM043 MIFTS: 30	Dermochondrocorneal Dystrophy (DCCD) Categories: Eye diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Dermochondrocorneal Dystrophy (DCCD)

Aliases & Classifications for Dermochondrocorneal Dystrophy

MalaCards integrated aliases for Dermochondrocorneal Dystrophy:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Dermochondrocorneal Dystrophy

Related Diseases for Dermochondrocorneal Dystrophy

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

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

Symptoms & Phenotypes for Dermochondrocorneal Dystrophy

Human phenotypes related to Dermochondrocorneal Dystrophy:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Dermochondrocorneal Dystrophy

Genetic Tests for Dermochondrocorneal Dystrophy

Anatomical Context for Dermochondrocorneal Dystrophy

Organs/tissues related to Dermochondrocorneal Dystrophy:

Publications for Dermochondrocorneal Dystrophy

Articles related to Dermochondrocorneal Dystrophy:

Genes for Dermochondrocorneal Dystrophy

Variations for Dermochondrocorneal Dystrophy

Expression for Dermochondrocorneal Dystrophy

Pathways for Dermochondrocorneal Dystrophy

GO Terms for Dermochondrocorneal Dystrophy

Sources for Dermochondrocorneal Dystrophy