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MACS
MCID: MCS006
MIFTS: 57

Macs Syndrome (MACS)

Categories: Fetal diseases, Genetic diseases, Infectious diseases, Rare diseases, Respiratory diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Macs Syndrome

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MalaCards integrated aliases for Macs Syndrome:

Name: Macs Syndrome 57 58 72 39
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 57 36 29 13 6 70
Mycobacterium Avium Complex Disease 12 15 17
Tall Forehead, Sparse Hair, Skin Hyperextensibility, and Scoliosis 57 72
Mycobacterium Avium-Intracellulare Infection 44 70
Mycobacterium Avium Infection 12 70
Tall Forehead-Sparse Hair-Skin Hyperextensibility-Scoliosis Syndrome 58
Macrocephaly Alopecia Cutis Laxa and Scoliosis Syndrome 72
Macrocephaly-Alopecia-Cutis Laxa-Scoliosis Syndrome 58
Infection Due to Mycobacterium Intracellulare 12
Mycobacterium Avium Complex 12
Rin2 Deficiency 58
Rin2 Syndrome 58
Mac Disease 12
Macs 72
Mac 73

Characteristics:

Orphanet epidemiological data:

58
rin2 syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
macs syndrome:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Infectious diseases
Anatomical: Skin diseases Respiratory diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Macs Syndrome

About this section
KEGG : 36 Macrocephaly, alopecia, cutis laxa, and scoliosis is an autosomal-recessive disorder related to the cutis laxa group of inherited disorders associated with macrocephaly, sparse hair, redundant skin, hyperlaxity of joints, gingival hypertrophy, retrognathia with abnormal skull morphology, and severe scoliosis. Homozygous mutations in RIN2, a protein that is involved in the regulation of endocytosis, have been reported.

MalaCards based summary : Macs Syndrome, also known as macrocephaly, alopecia, cutis laxa, and scoliosis, is related to nontuberculous mycobacterial lung disease and tenosynovitis, and has symptoms including swelling of eyelid An important gene associated with Macs Syndrome is RIN2 (Ras And Rab Interactor 2), and among its related pathways/superpathways are Innate Immune System and TGF-Beta Pathway. The drugs Fluconazole and Clotrimazole have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and lung, and related phenotypes are scoliosis and high palate

Disease Ontology : 12 A primary bacterial infectious disease that results in infection, has material basis in Mycobacterium avium complex (MAC), which is transmitted by inhalation or transmitted by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons.

UniProtKB/Swiss-Prot : 72 MACS syndrome: A complex disorder of elastic tissue characterized by sagging skin and occasionally by life-threatening visceral complications.

More information from OMIM: 613075
Sources

Related Diseases for Macs Syndrome

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Diseases related to Macs Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1004)
# Related Disease Score Top Affiliating Genes
1 nontuberculous mycobacterial lung disease 31.2 TNF SLC11A1
2 tenosynovitis 30.8 TNF HSPD1 CD4
3 cervical adenitis 30.6 HSPD1 CD4
4 hypopyon 30.5 TNF IL10 CD4
5 interferon gamma, receptor 1, deficiency 30.5 IFNGR1 IFNG
6 bronchitis 30.4 TNF STAT1 IL10
7 bacillary angiomatosis 30.4 HSPD1 CD4
8 mycobacterium fortuitum 30.3 IL12RB1 IFNGR1 HSPD1
9 actinomycosis 30.3 TNF IL10 CD4
10 purpura 30.3 TNF IL10 IFNG
11 intestinal tuberculosis 30.3 TNF IFNG CD4
12 iridocyclitis 30.2 TNF IL10 CD4
13 alopecia 30.2 TNF RIN2 IFNG
14 chronic graft versus host disease 30.2 IL10 IFNG
15 whipple disease 30.2 TNF HSPD1 CD4
16 multifocal choroiditis 30.2 TNF IL10
17 aspergillosis 30.2 TNF IL10 IFNG
18 appendicitis 30.2 TNF IL10 IFNG
19 cryptosporidiosis 30.1 IFNG CD8A CD4
20 human immunodeficiency virus type 1 30.1 TNF STAT1 IL10 IFNG CD4
21 hemophagocytic lymphohistiocytosis 30.1 TNF IL10 IFNGR1 IFNG
22 sporotrichosis 30.0 IL10 IFNG CD4
23 cellulitis 30.0 TNF CD8A CD4
24 acquired immunodeficiency syndrome 30.0 TNF IL10 IFNG IFNA1 CD4
25 enterocolitis 30.0 TNF IL10
26 typhoid fever 30.0 TNF SLC11A1 IFNGR1 IFNG
27 hepatitis b 30.0 TNF STAT1 IFNGR1 IFNG IFNA1
28 common cold 30.0 TNF IL10 CD4
29 cystic fibrosis 29.9 TNF IL10 IFNG HSPD1 CD4
30 arthritis 29.9 TNF SLC11A1 IL10 IFNG HSPD1
31 erythema nodosum 29.9 TNF IL10 IFNG
32 crohn's disease 29.9 TNF IL10 IFNG CD4
33 graft-versus-host disease 29.9 TNF IL10 IFNG
34 vitiligo-associated multiple autoimmune disease susceptibility 1 29.9 TNF CD8A CD4
35 immunodeficiency 27a 29.8 STAT1 IFNGR1 IFNG IFNA1
36 neurosarcoidosis 29.8 TNF CD8A CD4
37 duodenitis 29.8 TNF CD8A CD4
38 lymphadenitis 29.8 TNF SLC11A1 IL12RB1 IL10 IFNGR1 IFNG
39 facial paralysis 29.8 TNF CD8A CD4
40 pneumocystosis 29.8 TNF CD8A CD4
41 panniculitis 29.8 TNF IFNG CD8A CD4
42 myasthenia gravis 29.8 TNF IL10 IFNG
43 toxoplasmosis 29.8 TNF STAT1 IL10 IFNGR1 IFNG
44 autoimmune hepatitis 29.8 TNF IL10 IFNA1
45 pleural disease 29.8 TNF CD8A CD4
46 choroiditis 29.8 TNF IL10 IFNG CD4
47 uveitis 29.7 TNF IL10 IFNG HSPD1
48 tetanus 29.7 TNF IL10 IFNG
49 candidiasis 29.7 TNF STAT1 IL10 IFNG
50 reactive arthritis 29.7 TNF SLC11A1 IL10 IFNG HSPD1

Graphical network of the top 20 diseases related to Macs Syndrome:



Diseases related to Macs Syndrome
Sources

Symptoms & Phenotypes for Macs Syndrome

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Human phenotypes related to Macs Syndrome:

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 high palate 58 31 occasional (7.5%) Very frequent (99-80%) HP:0000218
3 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
4 gingival overgrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000212
5 pes planus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001763
6 joint hypermobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001382
7 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
8 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
9 sparse scalp hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002209
10 redundant skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001582
11 hyperextensible skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000974
12 hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001007
13 upper eyelid edema 58 31 hallmark (90%) Very frequent (99-80%) HP:0012724
14 irregular dentition 58 31 hallmark (90%) Very frequent (99-80%) HP:0040079
15 infra-orbital fold 58 31 hallmark (90%) Very frequent (99-80%) HP:0011232
16 umbilical hernia 58 31 occasional (7.5%) Frequent (79-30%) HP:0001537
17 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
18 bruising susceptibility 58 31 frequent (33%) Frequent (79-30%) HP:0000978
19 high pitched voice 58 31 frequent (33%) Frequent (79-30%) HP:0001620
20 abnormal sternum morphology 31 frequent (33%) HP:0000766
21 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
22 premature ovarian insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0008209
23 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001156
24 hypergonadotropic hypogonadism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000815
25 increased susceptibility to fractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002659
26 high myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011003
27 ichthyosis 31 occasional (7.5%) HP:0008064
28 osteoporosis 31 occasional (7.5%) HP:0000939
29 urethral stenosis 31 occasional (7.5%) HP:0008661
30 single transverse palmar crease 31 occasional (7.5%) HP:0000954
31 aortic aneurysm 31 occasional (7.5%) HP:0004942
32 bronchiectasis 31 occasional (7.5%) HP:0002110
33 short stature 31 HP:0004322
34 thick lower lip vermilion 31 HP:0000179
35 alopecia 31 HP:0001596
36 palpebral edema 31 HP:0100540
37 abnormal lip morphology 58 Very frequent (99-80%)
38 prolonged bleeding time 31 HP:0003010
39 decreased body weight 31 HP:0004325
40 abnormality of the sternum 58 Frequent (79-30%)
41 sparse hair 31 HP:0008070
42 aortic dilatation 58 Occasional (29-5%)
43 eclabion 31 HP:0012472
44 hypotonia 31 HP:0001252
45 sparse and thin eyebrow 31 HP:0000535

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
macrocephaly

Skeletal Feet:
pes planus

Skeletal Limbs:
joint hypermobility
fractures (rare)

Skin Nails Hair Skin:
hyperextensible skin
easy bruising
soft, redundant skin (especially facial)
ichthyosis (rare)
multiple pigmented moles

Head And Neck Teeth:
irregular dentition

Growth Weight:
low weight

Head And Neck Eyes:
sparse eyebrows
puffy eyelids
downslanting palpebral fissure
infraorbital folds
droopy eyelids

Head And Neck Mouth:
full lips
gum hypertrophy
high-arched palate (rare)
everted lips

Muscle Soft Tissue:
muscle hypotonia

Chest Ribs Sternum Clavicles And Scapulae:
pectus deformity

Respiratory Airways:
bronchiectasis (rare)

Genitourinary Ureters:
urethral stenosis (rare)

Neurologic Central Nervous System:
normal to mildly delayed development
diffuse white matter abnormalities seen on mri
subcortical cysts
increased perivascular spaces

Skeletal Spine:
scoliosis

Skeletal:
osteoporosis

Hematology:
prolonged bleeding time

Skin Nails Hair Hair:
sparse hair
receding anterior hairline
sparse androgenic hair

Voice:
high-pitched voice

Head And Neck Face:
coarse face

Abdomen Gastrointestinal:
umbilical hernia (rare)

Growth Height:
small stature

Endocrine Features:
hypergonadotropic hypogonadism (rare)

Cardiovascular Heart:
mild aortic dilatation (rare)

Genitourinary Internal Genitalia Male:
undescended testis (rare)

Skeletal Hands:
brachydactyly (uncommon)
single transverse palmar crease (rare)

Clinical features from OMIM®:

613075 (Updated 05-Apr-2021)

UMLS symptoms related to Macs Syndrome:


swelling of eyelid

GenomeRNAi Phenotypes related to Macs Syndrome according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.53 RIN2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-113 9.53 IFNGR1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-128 9.53 IL10
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-13 9.53 IFNGR1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-132 9.53 IL10
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.53 IL10
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.53 IL10
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.53 RIN2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-25 9.53 IL10
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.53 IL10
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-41 9.53 IFNGR1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.53 IFNGR1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-50 9.53 IL12RB1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.53 IL12RB1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-80 9.53 IL10
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-85 9.53 RIN2

MGI Mouse Phenotypes related to Macs Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.85 CD4 CD8A HSPD1 IFNG IFNGR1 IL10
2 digestive/alimentary MP:0005381 9.8 CD4 IFNG IFNGR1 IL10 SLC11A1 STAT1
3 integument MP:0010771 9.7 CD4 CD8A FBLN5 HSPD1 IFNG IFNGR1
4 neoplasm MP:0002006 9.17 FBLN5 IFNG IFNGR1 IL10 SLC11A1 STAT1
Sources

Drugs & Therapeutics for Macs Syndrome

About this section

Drugs for Macs Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 66)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluconazole Approved, Investigational Phase 3 86386-73-4 3365
2
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
3
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
4
Rifampicin Approved Phase 3 13292-46-1 5381226 5458213
5
Ethambutol Approved Phase 3 74-55-5 3279 14052
6
Azithromycin Approved Phase 3 83905-01-5 447043 55185
7
Bedaquiline Approved Phase 2, Phase 3 843663-66-1
8
Amikacin Approved, Investigational, Vet_approved Phase 3 37517-28-5 37768
9
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 3 83-88-5 493570
10 Hormone Antagonists Phase 3
11 Hormones Phase 3
12 Antifungal Agents Phase 3
13 Vitamins Phase 3
14 Vitamin B Complex Phase 3
15 Vitamin B2 Phase 3
16
Streptomycin Approved, Vet_approved Phase 2 57-92-1 19649
17
Nelfinavir Approved Phase 2 159989-64-7 64143
18
Ciprofloxacin Approved, Investigational Phase 2 85721-33-1 2764
19
Ritonavir Approved, Investigational Phase 2 155213-67-5 392622
20
Indinavir Approved Phase 2 150378-17-9 5362440
21
Rifapentine Approved, Investigational Phase 2 61379-65-5 6323497
22 Thioacetazone Phase 2
23 Anti-Retroviral Agents Phase 2
24 Anti-HIV Agents Phase 2
25
protease inhibitors Phase 2
26 HIV Protease Inhibitors Phase 2
27 Antiviral Agents Phase 2
28 interferons Phase 2
29 Interferon-gamma Phase 2
30
Ethanol Approved Phase 1 64-17-5 702
31
Iron Approved Phase 1 7439-89-6 23925 29936
32
Titanium dioxide Approved Phase 1 13463-67-7
33
Lopinavir Approved Phase 1 192725-17-0 92727
34
Zidovudine Approved Phase 1 30516-87-1 35370
35
Didanosine Approved Phase 1 69655-05-6 50599
36
Thalidomide Approved, Investigational, Withdrawn Phase 1 50-35-1 5426
37
Maraviroc Approved, Investigational Phase 1 376348-65-1 3002977
38
Prednisolone Approved, Vet_approved Phase 1 50-24-8 5755
39
Methylprednisolone Approved, Vet_approved Phase 1 83-43-2 6741
40
Prednisolone phosphate Approved, Vet_approved Phase 1 302-25-0
41
Methylprednisolone hemisuccinate Approved Phase 1 2921-57-5
42
Prednisolone acetate Approved, Vet_approved Phase 1 52-21-1
43
Deflazacort Approved, Investigational Phase 1 14484-47-0
44
Prednisone Approved, Vet_approved Phase 1 53-03-2 5865
45
Prednisolone hemisuccinate Experimental Phase 1 2920-86-7
46 Rifamycins Phase 1
47 rifamycin SV Phase 1
48 Reverse Transcriptase Inhibitors Phase 1
49 Antimetabolites Phase 1
50 Angiogenesis Inhibitors Phase 1

Interventional clinical trials:

(show top 50) (show all 69)
# Name Status NCT ID Phase Drugs
1 An Open-Label Randomized Pharmacokinetic/Pharmacodynamic Study of Mycobutin (Rifabutin) or Rifabutin in Combination With Myambutol (Ethambutol) for Prophylaxis of Mycobacterium Avium Complex (MAC) Bacteremia in AIDS Patients With CD4 Counts <= 100 Cells/mm3 Completed NCT00002343 Phase 4 Ethambutol hydrochloride;Rifabutin
2 Open, Noncomparative Trial of Azithromycin in the Treatment of M.Avium Complex (MAC) Lung Disease Completed NCT00599079 Phase 4 Azithromycin
3 Open, Noncomparative Trial of Multidrug Regimens Containing Azithromycin and Rifabutin Administered Three Times Per Week for the Treatment of M. Avium Complex (MAC) Lung Disease Completed NCT00598962 Phase 4 Azithromycin;Rifabutin/rifampin
4 Open, Noncomparative Trial of Multidrug Regimens Containing Clarithromycin and Rifabutin Administered Three Times Per Week for the Treatment of M. Avium Complex (MAC) Lung Disease Completed NCT00598897 Phase 4 clarithromycin, rifabutin
5 Open Study of Clarithromycin for the Treatment of Infections Caused by Nontuberculous Mycobacteria (NTM) Completed NCT00600769 Phase 4 Clarithromycin
6 Treatment of Crohn's Disease With an Antibiotic Regimen Directed Against Mycobacterium Avium Paratuberculosis Withdrawn NCT00513552 Phase 4 Rifabutin, Clarithromycin, and Clofazimine
7 An Open-Label, Randomized Trial of Four Treatment Regimens for Patients With Disseminated Mycobacterium Avium Complex Disease and Acquired Immunodeficiency Syndrome (AIDS) Completed NCT00001047 Phase 3 Ethambutol hydrochloride;Clarithromycin;Clofazimine;Rifabutin
8 A Prospective, Randomized, Comparative Study of the Safety and Efficacy of Clarithromycin Versus Rifabutin Versus the Combination of Clarithromycin Plus Rifabutin for the Prevention of Mycobacterium Avium Complex (MAC) Bacteremia or Disseminated MAC Disease in HIV-Infected Patients With CD4 Lymphocyte Counts <= 100 Cells/mm3 Completed NCT00001030 Phase 3 Clarithromycin;Rifabutin
9 A Randomized, Double-Blind, Comparative Study of Azithromycin Versus Clarithromycin in Combination With Ethambutol for the Treatment of Disseminated Mycobacterium Avium Complex (MAC) Infection in AIDs Patients Completed NCT00002140 Phase 3 Ethambutol hydrochloride;Clarithromycin;Azithromycin
10 A Randomized Study of Daily and Intermittent Prophylactic Regimens for the Prevention of Disseminated Mycobacterium Avium Complex (MAC) and Fungal Infections in HIV-Infected Patients Completed NCT00002122 Phase 3 Azithromycin;Rifabutin;Fluconazole
11 Clinical Efficacy of Rifabutin in the Treatment of Serious and Life Threatening Infections Due to Mycobacterium Avium Complex, or Drug Resistant Mycobacterium Tuberculosis, or Other Drug Resistant Mycobacterium Completed NCT03164291 Phase 3 Rifabutin
12 A Three-Arm Comparative Trial for the Treatment of MAC Bacteremia in AIDS: A Clarithromycin/Ethambutol Regimen Containing Rifabutin (450 Mg) or Rifabutin (300 Mg) or Placebo Completed NCT00002101 Phase 3 Ethambutol hydrochloride;Clarithromycin;Rifabutin
13 A Randomized, Open-label, Multicenter Study of Liposomal Amikacin for Inhalation (LAI) in Adult Patients With Nontuberculous Mycobacterial (NTM) Lung Infection Caused by Mycobacterium Avium Complex (MAC) That Are Refractory to Treatment Completed NCT02344004 Phase 3 LAI (Liposomal Amikacin for Inhalation) 590 mg
14 An Open-Label Safety Extension Study to a Multicenter Study of Liposomal Amikacin for Inhalation (LAI) in Adult Patients With Nontuberculous Mycobacterial (NTM) Lung Infections Caused by Mycobacterium Avium Complex (MAC) That Are Refractory to Treatment Completed NCT02628600 Phase 3 LAI 590 mg;Multi-drug regimen
15 Comparison of Two- Versus Three-antibiotic Therapy for Pulmonary Mycobacterium Avium Complex Disease Recruiting NCT03672630 Phase 2, Phase 3 Azithromycin;Ethambutol;Rifampin
16 Study of RHB-204 for the Treatment of Pulmonary Mycobacterium Avium Complex (MAC) Disease (CleaR-MAC Trial) Recruiting NCT04616924 Phase 3 RHB-204;Placebo
17 A Phase 2/3, Multicenter, Randomized, Open-label, Active-controlled Study to Evaluate the Efficacy and Safety of Bedaquiline Administered as Part of a Treatment Regimen With Clarithromycin and Ethambutol in Adult Patients With Treatment-refractory Mycobacterium Avium Complex-lung Disease (MAC-LD) Recruiting NCT04630145 Phase 2, Phase 3 Bedaquiline;Clarithromycin;Ethambutol;Rifampicin;Rifabutin
18 ENCORE - A Randomized, Double-Blind, Placebo-Controlled, Active Comparator, Multicenter Study to Evaluate the Efficacy and Safety of an Amikacin Liposome Inhalation Suspension (ALIS)-Based Regimen in Adult Subjects With Newly Diagnosed Nontuberculous Mycobacterial (NTM) Lung Infection Caused by Mycobacterium Avium Complex (MAC) Recruiting NCT04677569 Phase 3 ALIS;Azithromycin;Ethambutol;ELC (matching placebo for ALIS)
19 ARISE - A Randomized, Double-Blind, Placebo-Controlled, Active Comparator, Multicenter Study to Validate Patient-Reported Outcome Instruments in Adult Subjects With Newly Diagnosed Nontuberculous Mycobacterial (NTM) Lung Infection Caused by Mycobacterium Avium Complex (MAC) Recruiting NCT04677543 Phase 3 ALIS;Azithromycin;Ethambutol;ELC
20 CLArithromycin Versus AZIthromycin in the Treatment of Mycobacterium Avium Complex (MAC) Lung Infections Recruiting NCT03236987 Phase 3 Clarithromycin 1000 MG;Azithromycin 250 mg;Rifampicin;Ethambutol
21 Phase II Study of Amithiozone (Thiacetazone) for Patients With Mycobacterium Avium Complex Pulmonary Disease Completed NCT00004689 Phase 2 amithiozone;clarithromycin;ethambutol;rifampin;streptomycin
22 A Pilot, Phase II, Randomized, Placebo-Controlled Study to Determine the Effects of Viracept on the Clinical Outcome of Disseminated Mycobacterium Avium Complex Disease (MAC) in AIDS Patients Who Are Receiving Standard Acute Treatment for This Opportunistic Infection Completed NCT00002170 Phase 2 Nelfinavir mesylate
23 A Phase II/III Prospective, Multicenter, Randomized, Controlled Trial Comparing the Safety and Efficacy of Three Clarithromycin-Containing Combination Drug Regimens for the Treatment of Disseminated Mycobacterium Avium Complex (MAC) Disease in Persons With AIDS Completed NCT00001058 Phase 2 Indinavir sulfate;Ritonavir;Ethambutol hydrochloride;Clarithromycin;Rifabutin
24 A Randomized, Double-Blinded, Placebo-Controlled, Phase II Study of the Safety and Efficacy of Inhaled Interferon Gamma-1b With Antimycobacterial in Previously Treated or Moderate to Severe Pulmonary Mycobacterium Avium Complex (MAC) Infection Completed NCT00021567 Phase 2 Interferon Gamma for Aerosol
25 Tolerance, Safety, and Activity of Rifapentine Alone and in Combination Therapy in AIDS Patients With Mycobacterium Avium Complex Bacteremia. Completed NCT00002192 Phase 2 Rifapentine;Ethambutol hydrochloride;Clarithromycin;Azithromycin
26 A Phase II/III Trial of Rifampin, Ciprofloxacin, Clofazimine, Ethambutol, and Amikacin in the Treatment of Disseminated Mycobacterium Avium Infection in HIV-Infected Individuals. Completed NCT00000641 Phase 2 Ciprofloxacin hydrochloride;Ethambutol hydrochloride;Amikacin sulfate;Azithromycin;Rifampin;Clofazimine
27 A Phase II Safety and Efficacy Study of Clarithromycin in the Treatment of Disseminated M. Avium Complex (MAC) Infections in Patients With AIDS Completed NCT00000644 Phase 2 Clarithromycin
28 The Effect of Therapy on the Tissue Burden of Disseminated MAC Infection as Measured by Quantitative Bone Marrow Culture and Correlation With Quantitative Blood Culture in HIV-Infected Patients Completed NCT00001039 Phase 2 Ethambutol hydrochloride;Clarithromycin
29 Phase 2 Study of Clofazimine for the Treatment of Pulmonary Mycobacterium Avium Disease Recruiting NCT02968212 Phase 2 Clofazimine
30 Early Bactericidal Activity of Standard Drugs Used to Treat Mycobacterium Avium Complex: a Pilot Study Recruiting NCT04287049 Phase 2 Azithromycin
31 A Randomized, Partially Blinded, Placebo- and Comparator-Controlled, Multicenter, Phase 2a, Dose Ranging, Proof-of-Concept Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Efficacy of SPR720 as Compared With Placebo or Standard of Care for the Treatment of Patients With Mycobacterium Avium Complex (MAC) Pulmonary Disease Terminated NCT04553406 Phase 1, Phase 2 SPR720;Placebo;Open-label SOC
32 A Randomized, Double-Blind, Placebo-Controlled, Phase II Study of Safety and Efficacy of Inhaled Interferon Gamma-1b With Antimycobacterials in Previously Treated or Mod-to-Sev Pulmonary Mycobacterium Avium Complex Infection Terminated NCT00043355 Phase 2 interferon gamma-1b
33 Improving Tolerance of Treatment of Pulmonary Mycobacterium Avium Complex Infections Withdrawn NCT01719042 Phase 2 Zofran (8mg)
34 Dosing, Safety and Pharmacokinetic Profile of Rifabutin in Children Receiving Concomitant Treatment With Kaletra Unknown status NCT01259219 Phase 1 Mycobutin
35 A Phase I/II Dose-Ranging, Pharmacokinetic, Drug Interaction, Safety and Preliminary Efficacy Study of Oral Clarithromycin Granules for Suspension, in Combination With Zidovudine or Dideoxyinosine, in the Treatment of Disseminated Mycobacterium Avium Complex Infections in Pediatric Patients With AIDS Completed NCT00000971 Phase 1 Clarithromycin;Zidovudine;Didanosine
36 A Study of Adjuvant Cytokine Therapy in Pulmonary Mycobacterium Avium Complex and Other Pulmonary Nontuberculous Mycobacterial Infections Completed NCT00111397 Phase 1 Interferon Gamma, GM-CSF
37 Subcutaneously Administered Interleukin-12 Therapy in HIV-Infected Patients With Disseminated Mycobacterium Avium Complex Infection Completed NCT00001763 Phase 1 Interleukin-12
38 Placebo-Controlled Trial of Safety and Efficacy of Thalidomide in Patients With Infections Due to Mycobacterium and/or HIV Completed NCT00002104 Phase 1 Thalidomide
39 A Drug Interaction Study Investigating the Effect of Rifabutin on the Pharmacokinetics of Maraviroc Completed NCT01894776 Phase 1 Rifabutin;Maraviroc
40 A Phase I Clinical Trial to Determine the Safety and Immunogenicity of the Candidate Mycobacterium Avium Subspecies Paratuberculosis (MAP) Vaccines ChAdOx2 HAV and MVA HAV in Healthy Adult Volunteers Completed NCT03027193 Phase 1
41 A Phase 1, Open-Label, 2-Arm, Fixed-Sequence Study to Evaluate the Potential Effects of Multiple Doses of Rifampin (CYP3A4 Inducer) and Clarithromycin (CYP3A4 Inhibitor) on the Single Dose Pharmacokinetics of Deflazacort in Healthy Subjects Completed NCT02286635 Phase 1 Deflazacort and rifampin;Deflazacort and Clarithromycin
42 The Role of Inflammasome in Inflammatory Macrophage in Mycobacterium Avium Complex-lung Disease and Mycobacterium Abscessus-lung Disease Unknown status NCT02005094
43 A Randomized, Double-Blind, Placebo-Controlled Trial of Prophylaxis for Disseminated Mycobacterium Avium Complex Disease and Bacterial Pneumonia Versus Deferred Prophylaxis in HIV-Infected Patients Who Experience Rebound in CD4+ Cell Count Due to Active Antiretroviral Therapy Completed NCT00000947 Azithromycin
44 A Double-Blind, Placebo-Controlled, Parallel Group, Multicenter Study of Azithromycin as Prophylaxis Against the Development of Mycobacterium Avium Complex Disease in HIV-Infected People Completed NCT00002309 Azithromycin
45 DRUG USE INVESTIGATION FOR HIV INFECTION PATIENTS OF MYCOBUTIN (REGULATORY POST MARKETING COMMITMENT PLAN). Completed NCT00810446 rifabutin
46 Effects of Prophylaxis for Disseminated Mycobacterium Avium Complex (MAC) Disease With Azithromycin Versus Deferred Prophylaxis on Carriage of Antibiotic-Resistant Streptococcus Pneumoniae: A Substudy of the CR-MAC Protocol (CPCRA 048) Completed NCT00000933
47 Rifabutin Therapy for the Prevention of Mycobacterium Avium Complex (MAC) Bacteremia in AIDS Patients With CD4 Counts = or < 200: A Double-Blind, Placebo-Controlled Trial Completed NCT00002032 Rifabutin
48 A Double-Blind Randomized Clinical Trial of a Rifabutin Regimen in the Treatment of Mycobacterium-Avium Complex (MAC) Bacteremia in Patients With AIDS Completed NCT00001995 Rifabutin
49 Rifabutin Therapy for the Prevention of Mycobacterium Avium Complex (MAC) Bacteremia in AIDS Patients With CD4 Counts = or < 200: A Double-Blind, Placebo-Controlled Trial Completed NCT00002267 Rifabutin
50 Rifabutin Therapy for the Prevention of Mycobacterium Avium Complex (MAC) Bacteremia in HIV Positive Patients With CD4 Counts = or < 200: Treatment IND Study Completed NCT00002080 Rifabutin

Search NIH Clinical Center for Macs Syndrome

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Clofazimine

Cochrane evidence based reviews: mycobacterium avium-intracellulare infection

Sources

Genetic Tests for Macs Syndrome

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Genetic tests related to Macs Syndrome:

# Genetic test Affiliating Genes
1 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 29 RIN2
Sources

Anatomical Context for Macs Syndrome

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MalaCards organs/tissues related to Macs Syndrome:

40
Skin, Bone, Lung, Bone Marrow, Testis, T Cells
Sources

Publications for Macs Syndrome

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Articles related to Macs Syndrome:

# Title Authors PMID Year
1
Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum. 6 57 61
30769224 2020
2
Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2. 61 6 57
24449201 2014
3
MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking. 6 57 61
20954239 2010
4
The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2). 61 57 6
20424861 2010
5
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. 57 6 61
19631308 2009
6
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. 61
28409271 2017
7
RIN2 syndrome: Expanding the clinical phenotype. 61
27277385 2016
Sources

Variations for Macs Syndrome

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ClinVar genetic disease variations for Macs Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RIN2 NM_018993.3(RIN2):c.1731del (p.Ile578fs) Deletion Pathogenic 1296 rs759390822 GRCh37: 20:19956394-19956394
GRCh38: 20:19975750-19975750
2 RIN2 NM_018993.3(RIN2):c.1914_1915del (p.Glu638fs) Deletion Pathogenic 36923 rs587776915 GRCh37: 20:19970801-19970802
GRCh38: 20:19990157-19990158
3 RIN2 NM_018993.3(RIN2):c.1731dup (p.Ile578fs) Duplication Pathogenic 137627 rs759390822 GRCh37: 20:19956393-19956394
GRCh38: 20:19975749-19975750
4 RIN2 NM_001242581.1(RIN2):c.2251dup (p.Leu751fs) Duplication Likely pathogenic 590794 rs1568718508 GRCh37: 20:19972845-19972846
GRCh38: 20:19992201-19992202
5 RIN2 NM_018993.3(RIN2):c.275_276AC[3] (p.His94fs) Microsatellite Likely pathogenic 804430 rs1600939486 GRCh37: 20:19937373-19937374
GRCh38: 20:19956729-19956730
6 RIN2 NM_018993.3(RIN2):c.1642G>A (p.Val548Met) SNV Likely benign 374444 rs181298473 GRCh37: 20:19956311-19956311
GRCh38: 20:19975667-19975667
Sources

Expression for Macs Syndrome

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Search GEO for disease gene expression data for Macs Syndrome.
Sources

Pathways for Macs Syndrome

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Pathways related to Macs Syndrome according to GeneCards Suite gene sharing:

(show all 47)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 13.97 TNF STAT1 SLC11A1 IL12RB1 IL10 IFNGR1
2
TGF-Beta Pathway 63
Show member pathways
 13.48 TNF STAT1 IL12RB1 IL10 IFNGR1 IFNG
3
Cytokine Signaling in Immune system 65
Show member pathways
 13.28 TNF STAT1 IL12RB1 IL10 IFNGR1 IFNG
4
Toll-like Receptor Signaling Pathway 36 1
Show member pathways
 13.13 TNF STAT1 IL10 IFNGR1 IFNG IFNA1
5
Human cytomegalovirus infection 36
Show member pathways
 12.88 TNF STAT1 IFNGR1 IFNA1 CD4
6
Pathways in cancer 36
12.8 STAT1 IL12RB1 IFNGR1 IFNG IFNA1
7
Measles 36
Show member pathways
 12.78 TNF STAT1 IFNGR1 IFNG IFNA1
8
Herpes simplex virus 1 infection 36
12.77 TNF STAT1 IFNGR1 IFNG IFNA1
9
4-1BB Pathway 63
Show member pathways
 12.63 TNF STAT1 IFNGR1 IFNG CD4
10
Allograft rejection 1 36
Show member pathways
 12.6 TNF STAT1 IL10 IFNG IFNA1 HSPD1
11
Immune response NFAT in immune response 23
Show member pathways
 12.59 TNF IL12RB1 IL10 IFNGR1 IFNG CD4
12
Immune response IL-23 signaling pathway 23
Show member pathways
 12.53 TNF STAT1 IL12RB1 IL10 IFNG CD4
13
NF-kappaB Signaling 4
12.5 TNF STAT1 IL10 IFNG IFNA1 CD8A
14
Interferon gamma signaling 65
Show member pathways
 12.49 STAT1 IFNGR1 IFNG IFNA1
15
Immune response Role of DAP12 receptors in NK cells 23
Show member pathways
 12.47 TNF IFNGR1 IFNG IFNA1
16
T cell receptor signaling pathway 36
Show member pathways
 12.45 TNF STAT1 IL10 IFNGR1 IFNG CD8A
17
Th17 cell differentiation 36
Show member pathways
 12.4 TNF STAT1 IL12RB1 IL10 IFNGR1 IFNG
18
JAK-STAT signaling pathway 36
Show member pathways
 12.33 STAT1 IL12RB1 IL10 IFNGR1 IFNG IFNA1
19
Toll Comparative Pathway 63
Show member pathways
 12.28 TNF STAT1 IFNGR1 IFNG
20
Immune response IFN alpha/beta signaling pathway 23
Show member pathways
 12.22 TNF STAT1 IL10 IFNG IFNA1
21
Toxoplasmosis 36
Show member pathways
 12.22 TNF STAT1 IL10 IFNGR1 IFNG
22
Colorectal Cancer Metastasis 63
12.17 TNF STAT1 IFNGR1 IFNG
23
Bacterial infections in CF airways 23
Show member pathways
 12.17 TNF STAT1 IFNGR1 IFNG
24
Necroptosis 36
Show member pathways
 12.16 TNF STAT1 IFNGR1 IFNG IFNA1
25
Yersinia infection 36
12.04 TNF IL10 CD8A CD4
26
Osteoclast differentiation 36
12.01 TNF STAT1 IFNGR1 IFNG
27
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.96 TNF IL10 IFNG CD8A CD4
28
Tuberculosis 36
11.96 TNF STAT1 IL10 IFNGR1 IFNG IFNA1
29
Interleukin-4 and 13 signaling 65
11.93 TNF STAT1 IL10
30
IL12-mediated signaling events 1
Show member pathways
 11.93 STAT1 IL12RB1 IFNG CD8A CD4
31
Amoebiasis 36
11.88 TNF IL10 IFNG
32
Hematopoietic cell lineage 36
11.86 TNF CD8A CD4
33
Th17 Differentiation Pathway 64
Show member pathways
 11.84 STAT1 IL12RB1 IFNG CD4
34
Interferon Pathway 63
11.84 STAT1 IFNGR1 IFNG IFNA1
35
Immune response IFN gamma signaling pathway 23
Show member pathways
 11.83 STAT1 IFNGR1 IFNG
36
Dendritic Cells Developmental Lineage Pathway 64
11.67 TNF IL10 IFNG CD8A CD4
37
Downstream signaling in naive CD8+ T cells 1
Show member pathways
 11.63 TNF IFNG CD8A
38
TGF-beta Receptor Signaling (WikiPathways) 1
11.61 TNF STAT1 IFNG
39
Cellular Transformation by HTLV1 63
Show member pathways
 11.55 TNF IFNGR1 IFNG
40
Malaria 36
11.53 TNF IL10 IFNG
41
Th2 Differentiation Pathway 64
11.49 IL10 IFNG CD4
42
Type II interferon signaling (IFNG) 1
11.37 STAT1 IFNGR1 IFNG
43
African trypanosomiasis 36
11.37 TNF IL10 IFNG
44
IL-15 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types 64
Show member pathways
 11.35 TNF IL10 IFNG
45
Innate Lymphoid Cell Differentiation Pathways 64
11.34 TNF IL12RB1 IL10 IFNG CD8A CD4
46
Cytokines and Inflammatory Response 1
11.2 TNF IL10 IFNG CD4
47
Th1 Differentiation Pathway 64
Show member pathways
 11.05 TNF STAT1 IL12RB1 IL10 IFNGR1 IFNG
Sources

GO Terms for Macs Syndrome

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Cellular components related to Macs Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.17 TNF MIR500A IL10 IFNG IFNA1 HSPD1

Biological processes related to Macs Syndrome according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.91 TNF SLC11A1 IL10 IFNG CD8A CD4
2 response to virus GO:0009615 9.81 TNF IFNGR1 IFNG
3 positive regulation of inflammatory response GO:0050729 9.8 TNF IFNG HSPD1
4 positive regulation of interleukin-6 production GO:0032755 9.79 TNF IFNG HSPD1
5 response to organic substance GO:0010033 9.78 TNF IL10 HSPD1
6 interferon-gamma-mediated signaling pathway GO:0060333 9.77 STAT1 IFNGR1 IFNG
7 response to glucocorticoid GO:0051384 9.76 TNF IL10 HSPD1
8 humoral immune response GO:0006959 9.74 TNF IFNG IFNA1
9 positive regulation of phagocytosis GO:0050766 9.73 TNF SLC11A1 IFNG
10 T cell activation GO:0042110 9.72 HSPD1 CD8A CD4
11 interleukin-12-mediated signaling pathway GO:0035722 9.71 IL12RB1 IL10 IFNG
12 B cell proliferation GO:0042100 9.69 IL10 IFNA1 HSPD1
13 microglial cell activation GO:0001774 9.67 TNF IFNGR1 IFNG
14 positive regulation of calcineurin-NFAT signaling cascade GO:0070886 9.65 TNF CHP2
15 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.65 STAT1 IFNG
16 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.65 TNF IFNG
17 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.64 TNF IL10
18 positive regulation of signaling receptor activity GO:2000273 9.63 IL10 IFNG
19 positive regulation of MHC class II biosynthetic process GO:0045348 9.62 IL10 IFNG
20 positive regulation of T-helper 1 type immune response GO:0002827 9.62 SLC11A1 IL12RB1
21 endothelial cell apoptotic process GO:0072577 9.6 TNF IL10
22 negative regulation of cytokine production involved in immune response GO:0002719 9.58 TNF IL10
23 positive regulation of amyloid-beta formation GO:1902004 9.58 TNF IFNGR1 IFNG
24 positive regulation of interferon-gamma production GO:0032729 9.56 TNF SLC11A1 IL12RB1 HSPD1
25 astrocyte activation GO:0048143 9.54 TNF IFNGR1 IFNG
26 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.52 TNF IFNG
27 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.5 STAT1 IFNGR1 IFNG
28 positive regulation of vitamin D biosynthetic process GO:0060557 9.48 TNF IFNG
29 positive regulation of nitrogen compound metabolic process GO:0051173 9.46 TNF IFNG
30 negative regulation of amyloid-beta clearance GO:1900222 9.33 TNF IFNGR1 IFNG
31 positive regulation of cytokine production GO:0001819 9.26 TNF SLC11A1 IL10 IFNG
32 cytokine-mediated signaling pathway GO:0019221 9.17 TNF STAT1 IL12RB1 IL10 IFNGR1 IFNA1

Molecular functions related to Macs Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 8.92 TNF IL10 IFNG IFNA1
Sources

Sources for Macs Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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