CMCU
MCID: MCC013
MIFTS: 45

Mucocutaneous Ulceration, Chronic (CMCU)

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Mucocutaneous Ulceration, Chronic

MalaCards integrated aliases for Mucocutaneous Ulceration, Chronic:

Name: Mucocutaneous Ulceration, Chronic 58 76 6
Cmcu 58 76
Skin Ulcer 45

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in first years of life
one family has been reported (last curated january 2019)
favorable response to tnf inhibitors


Classifications:



External Ids:

OMIM 58 618287
MeSH 45 D012883
MedGen 43 CN258147

Summaries for Mucocutaneous Ulceration, Chronic

UniProtKB/Swiss-Prot : 76 Mucocutaneous ulceration, chronic: An autosomal dominant, mucocutaneous disease characterized by chronic mucosal lesions, in absence of recurrent infections.

MalaCards based summary : Mucocutaneous Ulceration, Chronic, also known as cmcu, is related to dermatoosteolysis, kirghizian type and leishmaniasis. An important gene associated with Mucocutaneous Ulceration, Chronic is RELA (RELA Proto-Oncogene, NF-KB Subunit), and among its related pathways/superpathways are Phospholipase-C Pathway and p70S6K Signaling. The drugs acetic acid and Saxagliptin have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and spinal cord, and related phenotypes are cardiovascular system and muscle

Description from OMIM: 618287

Related Diseases for Mucocutaneous Ulceration, Chronic

Diseases related to Mucocutaneous Ulceration, Chronic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 151)
# Related Disease Score Top Affiliating Genes
1 dermatoosteolysis, kirghizian type 11.8
2 leishmaniasis 11.4
3 syphilis 11.3
4 prolidase deficiency 11.2
5 cryoglobulinemia 11.2
6 cutis marmorata telangiectatica congenita 11.2
7 asymptomatic neurosyphilis 11.2
8 vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome 11.1
9 warburg-cinotti syndrome 11.1
10 neuropathy, hereditary sensory and autonomic, type ia 10.9
11 varicose veins 10.9
12 buerger disease 10.9
13 peripheral artery disease 10.9
14 cutaneous diphtheria 10.9
15 tularemia 10.9
16 anthrax disease 10.9
17 diffuse dermal angiomatosis 10.9
18 necrobiotic xanthogranuloma 10.9
19 systemic scleroderma 10.1
20 pyoderma 10.1
21 pyoderma gangrenosum 10.1
22 dermatomyositis 10.0
23 scleroderma, familial progressive 10.0
24 vasculitis 10.0
25 neuropathy 9.9
26 systemic lupus erythematosus 9.8
27 childhood type dermatomyositis 9.8
28 epidermolysis bullosa dystrophica 9.8
29 hepatitis 9.8
30 lymphoma 9.8
31 recessive dystrophic epidermolysis bullosa 9.8
32 cryptococcosis 9.8
33 epidermolysis bullosa 9.8
34 histiocytosis 9.8
35 calciphylaxis 9.8
36 lupus erythematosus 9.8
37 dry eye syndrome 9.8 FGF2 NGF
38 breast cancer 9.8
39 felty syndrome 9.8
40 rheumatoid arthritis 9.8
41 leprosy 3 9.8
42 myelofibrosis 9.8
43 myeloma, multiple 9.8
44 langerhans cell histiocytosis 9.8
45 graft-versus-host disease 9.8
46 peripheral vascular disease 9.8
47 arthritis 9.8
48 spinal cord injury 9.8
49 hereditary sensory neuropathy 9.8
50 osteomyelitis 9.8

Graphical network of the top 20 diseases related to Mucocutaneous Ulceration, Chronic:



Diseases related to Mucocutaneous Ulceration, Chronic

Symptoms & Phenotypes for Mucocutaneous Ulceration, Chronic

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
mucosal ulcerations
ileitis

Genitourinary Internal Genitalia Female:
vaginal mucosal ulcerations

Head And Neck Mouth:
oral mucosal ulcerations

Immunology:
no recurrent infections

Clinical features from OMIM:

618287

MGI Mouse Phenotypes related to Mucocutaneous Ulceration, Chronic:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.26 FGF2 NGF PEPD RELA
2 muscle MP:0005369 8.92 FGF2 NGF PEPD RELA

Drugs & Therapeutics for Mucocutaneous Ulceration, Chronic

Drugs for Mucocutaneous Ulceration, Chronic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 449)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
acetic acid Approved Phase 4 64-19-7 176
2
Saxagliptin Approved Phase 4 361442-04-8 11243969
3
Tazobactam Approved Phase 4,Phase 3 89786-04-9 123630
4
Piperacillin Approved Phase 4,Phase 3 66258-76-2 43672
5
Amoxicillin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 26787-78-0 33613
6
Ofloxacin Approved Phase 4,Phase 3,Phase 2 82419-36-1 4583
7
Metronidazole Approved Phase 4,Phase 3 443-48-1 4173
8
Levofloxacin Approved, Investigational Phase 4,Phase 3,Phase 2 100986-85-4 149096
9
Aztreonam Approved Phase 4 78110-38-0 5742832 5362041
10
Linezolid Approved, Investigational Phase 4 165800-03-3 441401
11
Clindamycin Approved, Vet_approved Phase 4,Phase 2 18323-44-9 29029
12
Nitric Oxide Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 10102-43-9 145068
13
leucovorin Approved Phase 4,Phase 2,Not Applicable 58-05-9 143 6006
14
Ciprofloxacin Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 85721-33-1 2764
15
Rifampicin Approved Phase 4,Phase 2,Phase 3,Not Applicable 13292-46-1 5381226 5458213
16
Sulfamethoxazole Approved Phase 4,Not Applicable 723-46-6 5329
17
Trimethoprim Approved, Vet_approved Phase 4,Not Applicable 738-70-5 5578
18
Dimenhydrinate Approved Phase 4,Phase 1,Phase 2,Not Applicable 523-87-5 441281
19
Tigecycline Approved Phase 4,Phase 3 220620-09-7 5282044
20
Ampicillin Approved, Vet_approved Phase 4 69-53-4 6249
21
Sulbactam Approved Phase 4 68373-14-8
22
Teicoplanin Approved, Investigational Phase 4,Not Applicable 61036-62-2
23
Vancomycin Approved Phase 4,Phase 3 1404-90-6 14969 441141
24
Sultamicillin Approved, Investigational Phase 4 76497-13-7
25
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 175805 71273
26
Petrolatum Approved, Investigational Phase 4,Phase 2,Not Applicable 8009-03-8
27
Bosentan Approved, Investigational Phase 4,Phase 3 147536-97-8 104865
28
Chlorhexidine Approved, Vet_approved Phase 4,Phase 2,Not Applicable 55-56-1 2713 9552079
29
Cefepime Approved, Investigational Phase 4 88040-23-7 5479537
30
Doxycycline Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 564-25-0 54671203
31
Cefotaxime Approved Phase 4 63527-52-6 5742673 456256
32
Fusidic Acid Approved, Investigational Phase 4,Early Phase 1 6990-06-3 3000226
33
Cefoxitin Approved Phase 4 35607-66-0 441199
34
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
35
Vildagliptin Approved, Investigational Phase 4 274901-16-5 6918537
36
Metformin Approved Phase 4,Phase 2 657-24-9 14219 4091
37
Bacitracin Approved, Vet_approved Phase 4,Not Applicable 1405-87-4 10909430 439542
38
Thrombin Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable
39
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
40
Coal tar Approved Phase 4,Phase 1,Phase 2,Not Applicable 8007-45-2
41
Polidocanol Approved Phase 4 9002-92-0
42
Daptomycin Approved, Investigational Phase 4,Phase 3 103060-53-3 16129629
43
St. John's Wort Approved, Investigational, Nutraceutical Phase 4 84082-80-4
44
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Not Applicable 59-30-3 6037
45
Calcium Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 7440-70-2 271
46
Vitamin C Approved, Nutraceutical Phase 4,Not Applicable 50-81-7 54670067 5785
47 Octenidine Investigational Phase 4,Not Applicable 71251-02-0
48
Retinol acetate Phase 4 127-47-9 10245972
49 Olive Phase 4
50 Antitubercular Agents Phase 4,Phase 3,Phase 2,Not Applicable

Interventional clinical trials:

(show top 50) (show all 1049)
# Name Status NCT ID Phase Drugs
1 Efficacy of Quantum NPWT With Simultaneous Irrigation on Reduction of Wound Volume in Stage III/IV Pressure Ulcers. Unknown status NCT01734109 Phase 4
2 Olive Oil's Cream Effectiveness in Prevention of Pressure Ulcers in Immobilized Patients in Primary Care Unknown status NCT01595347 Phase 4 Hyper-oxigenated fatty acid
3 Outcomes of Non-infected Diabetic Foot Ulcers With/Without Antibiotics Unknown status NCT01418456 Phase 4 antibiotics
4 A Study Of Pain And Quality Of Life Outcomes In Subjects With a Single Painful Venous Leg Ulcer Treated With Apligraf® Unknown status NCT02011724 Phase 4
5 Juxta-CuresTM Versus Bandaging for Venous Ulcers Unknown status NCT02790593 Phase 4
6 Maggot Debridement Therapy Versus Conventional Dressing Therapy to Treat Diabetic Foot Ulcers Unknown status NCT02816749 Phase 4
7 Dipeptidyl Peptidase 4 Inhibition Facilitate Healing of Diabetic Ulcers Unknown status NCT02742233 Phase 4 saxagliptin;placebo
8 A Comparison of TCC-EZ Using Human Amnion Allograft vs TCC-EZ and Standard Wound Care in Treating Diabetic Foot Ulcers. Unknown status NCT02344329 Phase 4
9 A Comparative Efficacy Study of DermaPure™ to Treat Diabetic Foot Ulcers Unknown status NCT02081352 Phase 4
10 Efficacy and Safety of Garamycin® Sponge (Gentamicin-Collagen Sponge) in Diabetic Patients With a Moderate or Severe Foot Ulcer Infection Unknown status NCT01951768 Phase 4 Garamycin Sponge (Gentamicin-Collagen sponge);Systemic Antibiotic
11 Clinical Evaluation of the SNaP Wound Care System Unknown status NCT01113658 Phase 4
12 Skin Ulcers Treatment With an Handicraft Topical Device Completed NCT02512159 Phase 4
13 Wound Management for Sacral Pressure Ulcers With Necrotic Tissue Completed NCT02224638 Phase 4
14 Wound Edge Changes Following Treatment With Santyl Completed NCT01197898 Phase 4
15 Study Comparing the Safety and Efficacy of Tigecycline With Ampicillin-Sulbactam or Amoxicillin-Clavulanate to Treat Skin Infections Completed NCT00368537 Phase 4 Tigecycline;ampicillin-sulbactam
16 A Multi-centre Evaluation of the Performance of Window Dressings on Subjects With High Risk Pressure Ulceration Completed NCT01438541 Phase 4
17 To Assess Analgesia Provided by Continuous Sciatic Nerve Block in Patients With Hypertensive Leg Ulcer Completed NCT01964911 Phase 4 Ropivacaïne
18 Physiotulle vs Urgotul in the Treatment of Leg Ulcer Completed NCT01238419 Phase 4
19 Prevention of Pressure Ulcers in Patients Under Non-Invasive Mechanical Ventilation Completed NCT02526862 Phase 4
20 Effect of Prolonged Decubitus on Nitric Oxide Concentration in Chronic Obstructive Pulmonary Disease Completed NCT01555593 Phase 4
21 The Clinical And Subclinical Effects on Arterial Stiffness of Bosentan in Patients With Systemic Sclerosis Completed NCT02480335 Phase 4 bosentan
22 A Pilot Trial of the Use of ReCell® Autologous Cell Harvesting Device for Venous Leg Ulcers Completed NCT01743053 Phase 4
23 Trial on the Efficacy of Prontosan Wound Irrigation Solution and Prontosan Wound Gel Completed NCT01153633 Phase 4
24 Hyperbaric Oxygen Therapy as Adjunctive Treatment of Chronic Diabetic Foot Ulcers Completed NCT00953186 Phase 4
25 Polydeoxyribonucleotide -Placentex Mastelli(Pdrn) for the Treatment of Diabetic Ulcers Completed NCT00638872 Phase 4 Polydeoxyribonucleotide
26 Evaluation of Pain Associated With the Removal of Wound Dressing During Care of Venous Leg Ulcer. Comparison of the Efficacy and Safety of Two Dressings Urgotul and TulleGras Completed NCT02104180 Phase 4
27 Clinical Trial to Evaluate the Efficacy, Tolerance and Acceptability of URGO Dressing vs a Hydrofibre in the Local Management of Venous or Predominantly Venous Mixed Leg Ulcers. Completed NCT01449422 Phase 4
28 A Post Marketing Study of Apligraf in Non-healing Wounds of Subjects With Venous Leg Ulcers Completed NCT01327937 Phase 4
29 AQUACEL® Ag Dressing and Urgotul® Silver Dressing on Healing of Chronic Venous Leg Ulcers Completed NCT01084577 Phase 4
30 Evaluating the Efficacy of an Absorbent Foam Dressing Containing Silver (Mepilex Ag) Versus the Same Dressing Without Silver Used on Subjects With Venous Leg Ulcers or Mixed Ulcers Completed NCT01036438 Phase 4
31 A Study to Evaluate the Clinical Effectiveness of a Collagen-ORC Antimicrobial Matrix in Venous Leg Ulcers Completed NCT00235209 Phase 4
32 Wound Fluid Protease Levels During Use of Novel Wound Dressing Completed NCT01567150 Phase 4
33 Neuromuscular Electrical Therapy in Venous Ulcers Completed NCT01372020 Phase 4
34 Diabetic Foot Ulcer. Effectiveness of Chlorhexidine Gluconate 0.125 % Compared With Sterile Deionized Water Completed NCT02097615 Phase 4
35 GrafixPRIME® for the Treatment of Chronic Diabetic Foot Ulcers Completed NCT02675855 Phase 4
36 Use of Santyl in Diabetic Foot Ulcers Completed NCT02581488 Phase 4
37 GrafixCORE®: Open-Label Study to Evaluate the Safety and Efficacy of GrafixCORE® for Complex Diabetic Foot Wounds Completed NCT02260609 Phase 4
38 LeucoPatch in the Management of Hard-to-heal Diabetic Foot Ulcers Completed NCT02224742 Phase 4
39 Santyl Applications to Diabetic Foot Ulcers Completed NCT02111291 Phase 4
40 Antibiotic Treatment Duration for Non-Surgically-Treated Diabetic Foot Osteomyelitis Completed NCT02123628 Phase 4 duration of the antibiotic therapy
41 Study of Oasis Ultra in Diabetic Foot Ulcers Completed NCT01835379 Phase 4
42 Pressure Ulcer Healing With Microcyn Completed NCT02001558 Phase 4 Microcyn
43 Grafix® DFU: Open-Label Extension Option to Evaluate Safety & Efficacy of Grafix® for Chronic Diabetic Foot Ulcers Completed NCT01596920 Phase 4
44 Santyl vs. Sharp Debridement of Diabetic Foot Wounds Completed NCT01056198 Phase 4 Santyl
45 LeucoPatch™ Study A Multicenter Study on the Effect of LeucoPatch™ in Diabetic Foot Ulcers Completed NCT01454401 Phase 4
46 Using Santyl on Diabetic Foot Ulcers Completed NCT01408277 Phase 4
47 DPP IV Inhibition Facilitates Healing of Chronic Foot Ulcers in Type 2 Diabetes Completed NCT01472432 Phase 4 Placebo;vildagliptin
48 Enzymatic Versus (vs) Autolytic Debridement of Diabetic Foot Ulcers Completed NCT01143727 Phase 4 Santyl;Tegaderm Hydrogel
49 A Study to Look at the Effects of Four Weeks of Treatment on the Healing of Diabetic Foot Ulcers Completed NCT01143714 Phase 4 Santyl
50 Evaluation of the Effect of Vivostat Platelet Rich Fibrin(PRF) in the Treatment of Diabetic Foot Ulcers Completed NCT00770939 Phase 4

Search NIH Clinical Center for Mucocutaneous Ulceration, Chronic

Cochrane evidence based reviews: skin ulcer

Genetic Tests for Mucocutaneous Ulceration, Chronic

Anatomical Context for Mucocutaneous Ulceration, Chronic

MalaCards organs/tissues related to Mucocutaneous Ulceration, Chronic:

42
Skin, Bone, Spinal Cord, Testes, Bone Marrow, Endothelial, Lung

Publications for Mucocutaneous Ulceration, Chronic

Articles related to Mucocutaneous Ulceration, Chronic:

(show all 26)
# Title Authors Year
1
A rare skin disorder associated with a stoma: intestinal metaplasia and adenoma occurring in a skin ulcer around a colostomy site. ( 31111465 )
2019
2
A Large Deep Skin Ulcer as an Initial Manifestation of Systemic Cryptococcosis. ( 30710325 )
2019
3
A Rare Case of Cutaneous Diffuse Large B-cell Lymphoma Presenting as a Chronic "Infectious" Skin Ulcer. ( 29718817 )
2018
4
Prospective evaluation of the capillaroscopic skin ulcer risk index in systemic sclerosis patients in clinical practice: a longitudinal, multicentre study. ( 30359309 )
2018
5
Pyoderma gangrenosum developing over a skin ulcer due to arteriovenous malformation. ( 29171388 )
2017
6
An unexpected skin ulcer and soft tissue necrosis after the nonconcurrent combination of proton beam therapy and pazopanib: A case of myxofibrosarcoma. ( 27523716 )
2017
7
A novel screwing method to prevent decubitus and skin ulcer in severe kyphoscoliosis after spinal cord injury: A case report. ( 28985988 )
2017
8
Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration. ( 28600438 )
2017
9
Validation study of predictive value of capillaroscopic skin ulcer risk index (CSURI) in scleroderma patients treated with bosentan. ( 26242501 )
2015
10
Successful treatment of rheumatoid vasculitis-associated skin ulcer with a TNF-α antagonist. ( 23557520 )
2014
11
First report of digital skin ulcer with Stenotrophomonas maltophilia infection in an immunocompetent patient. ( 24632983 )
2014
12
Skin ulcer is a predictive and prognostic factor of acute or subacute interstitial lung disease in dermatomyositis. ( 23553518 )
2013
13
Merkel cell carcinoma--a rare cause of non-healing skin ulcer: a case report. ( 23520680 )
2012
14
Skin ulcer mimicking pyoderma gangrenosum in a patient with incontinentia pigmenti. ( 21972955 )
2011
15
Skin ulcer presentation of Wegener's granulomatosis. ( 22797199 )
2010
16
A case of peripheral neuropathy and skin ulcer in a patient with rheumatoid arthritis after a single infusion of tocilizumab. ( 18987779 )
2009
17
Early-onset pancytopenia and skin ulcer following low-dose methotrexate therapy. ( 18829735 )
2008
18
New aspect of anti-inflammatory action of lipo-prostaglandinE1 in the management of collagen diseases-related skin ulcer. ( 18461292 )
2008
19
Therapeutic outcome of hyperbaric oxygen and basic fibroblast growth factor on intractable skin ulcer in legs: preliminary report. ( 16462352 )
2006
20
Radiation-induced skin ulcer, cerebral meningioma, and skin cancer following radiation and radium treatment for actinomycosis. ( 11994636 )
2002
21
Expression of telomerase reverse transcriptase in radiation-induced chronic human skin ulcer. ( 11934015 )
2002
22
Deficiency of the decorin core protein in the variant form of Ehlers-Danlos syndrome with chronic skin ulcer. ( 11532373 )
2001
23
A case of 48,XXYY Klinefelter's syndrome with incurable skin ulcer. ( 3750591 )
1986
24
Effect of prostaglandin E1 in collagen disease patients with inflammatory skin ulcer. ( 6683263 )
1983
25
Cutaneous malignant lymphoma: skin ulcer of lower leg. ( 291805 )
1979
26
Buruli ulcer: a mycobacterial skin ulcer in a Uganda child. ( 13886855 )
1962

Variations for Mucocutaneous Ulceration, Chronic

ClinVar genetic disease variations for Mucocutaneous Ulceration, Chronic:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RELA NM_021975.4(RELA): c.559+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 11, 65427136: 65427136
2 RELA NM_021975.4(RELA): c.559+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 11, 65659665: 65659665

Expression for Mucocutaneous Ulceration, Chronic

Search GEO for disease gene expression data for Mucocutaneous Ulceration, Chronic.

Pathways for Mucocutaneous Ulceration, Chronic

Pathways related to Mucocutaneous Ulceration, Chronic according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.59 FGF2 NGF NUDT6
2
Show member pathways
12.57 FGF2 NGF NUDT6
3
Show member pathways
12.51 FGF2 NGF RELA
4 12.21 FGF2 NGF RELA
5
Show member pathways
12.14 FGF2 NGF RELA
6
Show member pathways
11.88 FGF2 NGF NUDT6
7 11.69 NGF RELA
8
Show member pathways
11.54 FGF2 NGF NUDT6
9
Show member pathways
11.54 FGF2 NGF NUDT6 RELA
10
Show member pathways
11.45 FGF2 NGF NUDT6
11 11.35 FGF2 NGF
12
Show member pathways
11.3 NGF RELA
13 10.82 FGF2 NGF NUDT6
14 10.56 FGF2 NGF NUDT6

GO Terms for Mucocutaneous Ulceration, Chronic

Biological processes related to Mucocutaneous Ulceration, Chronic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 animal organ morphogenesis GO:0009887 8.62 FGF2 RELA

Molecular functions related to Mucocutaneous Ulceration, Chronic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 8.62 FGF2 NGF

Sources for Mucocutaneous Ulceration, Chronic

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
Content
Loading form....