MACS
MCID: MCS006
MIFTS: 65

Macs Syndrome (MACS)

Categories: Fetal diseases, Genetic diseases, Infectious diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases
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Aliases & Classifications for Macs Syndrome

MalaCards integrated aliases for Macs Syndrome:

Name: Macs Syndrome 57 58 73 38
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 57 12 71
Mycobacterium Avium Complex Disease 11 14 16
Rin2 Syndrome 58 28 5
Tall Forehead, Sparse Hair, Skin Hyperextensibility, and Scoliosis 57 73
Mycobacterium Avium-Intracellulare Infection 43 71
Mycobacterium Avium Infection 11 71
Tall Forehead-Sparse Hair-Skin Hyperextensibility-Scoliosis Syndrome 58
Macrocephaly Alopecia Cutis Laxa and Scoliosis Syndrome 73
Macrocephaly-Alopecia-Cutis Laxa-Scoliosis Syndrome 58
Infection Due to Mycobacterium Intracellulare 11
Mycobacterium Avium Complex 11
Rin2 Deficiency 58
Mac Disease 11
Macs 73

Characteristics:


Inheritance:

Macs Syndrome: Autosomal recessive 57
Rin2 Syndrome: Autosomal recessive 58

Prevelance:

Rin2 Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Rin2 Syndrome: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Macs Syndrome

Orphanet: 58 RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

MalaCards based summary: Macs Syndrome, also known as macrocephaly, alopecia, cutis laxa, and scoliosis, is related to peritonitis and whipple disease, 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 Azithromycin and Ethambutol have been mentioned in the context of this disorder. Affiliated tissues include skin, bone marrow and lung, and related phenotypes are scoliosis and high palate

Disease Ontology: 11 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: 73 A complex disorder of elastic tissue characterized by sagging skin and occasionally by life-threatening visceral complications.

More information from OMIM: 613075

Related Diseases for Macs Syndrome

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

(show top 50) (show all 875)
# Related Disease Score Top Affiliating Genes
1 peritonitis 30.7 TNF IL10 IFNG
2 whipple disease 30.6 TNF HSPD1 CD4
3 cervical adenitis 30.6 TNF IFNG HSPD1 CD4
4 septic arthritis 30.6 TNF IL10 HSPD1 CD4
5 hypopyon 30.5 TNF IL10 CD4
6 aspergillosis 30.5 TNF IL10 IFNG
7 mycobacterium fortuitum 30.5 IL12RB1 IFNGR1 HSPD1
8 toxoplasmosis 30.5 TNF IL10 IFNG
9 acquired immunodeficiency syndrome 30.5 TNF IL10 IFNG IFNA1 CD4
10 epidural abscess 30.4 IFNG CD4
11 bacillary angiomatosis 30.4 HSPD1 CD4
12 tenosynovitis 30.4 TNF HSPD1 CD8A CD4
13 bronchitis 30.4 TNF STAT1 IL10
14 enterocolitis 30.4 TNF IL10
15 meningitis 30.4 TNF IL10 IFNG
16 intestinal tuberculosis 30.3 TNF IFNG CD4
17 lung disease 30.3 TNF SLC11A1 IL10 IFNGR1 IFNG
18 purpura 30.3 TNF IL10 IFNG
19 pleural tuberculosis 30.3 TNF IFNG CD4
20 ileitis 30.2 TNF IL10 CD4
21 graft-versus-host disease 30.2 TNF IL10 IFNG
22 diarrhea 30.2 TNF IL10 IFNG IFNA1
23 viral infectious disease 30.2 TNF STAT1 IL10 IFNG IFNA1 CD4
24 appendicitis 30.2 TNF IL10 IFNG
25 childhood type dermatomyositis 30.2 TNF IFNA1 CD4
26 pleural disease 30.2 TNF CD8A CD4
27 extrinsic allergic alveolitis 30.1 TNF CD8A CD4
28 actinomycosis 30.1 TNF IL10 HSPD1 CD4
29 panniculitis 30.1 IFNG CD8A CD4
30 ventilation pneumonitis 30.1 CD8A CD4
31 typhoid fever 30.1 TNF SLC11A1 IFNGR1 IFNG
32 alopecia 30.1 TNF RIN2 IFNG
33 cellulitis 30.1 TNF CD8A CD4
34 colitis 30.0 TNF IL10 IFNG CD4
35 gingival overgrowth 30.0 TNF IL10 IFNG
36 laryngitis 30.0 TNF IL10 CD4
37 invasive aspergillosis 30.0 TNF IL10 CD4
38 pneumocystosis 30.0 TNF IL10 IFNG CD8A CD4
39 cryptosporidiosis 29.9 TNF IFNG CD8A CD4
40 erythema nodosum 29.9 TNF IL10 IFNG
41 bronchiectasis 29.9 TNF STAT1 IFNG
42 prostatitis 29.9 TNF IL10 IFNG
43 neuritis 29.9 TNF IL10 IFNG
44 human cytomegalovirus infection 29.9 TNF IL10 CD8A CD4
45 lymphoid interstitial pneumonia 29.9 TNF IFNG CD8A CD4
46 vitiligo-associated multiple autoimmune disease susceptibility 1 29.9 TNF CD8A CD4
47 pulmonary tuberculosis 29.9 TNF SLC11A1 IL12RB1 IL10 IFNGR1 IFNG
48 uveitis 29.9 TNF IL10 IFNG HSPD1
49 histoplasmosis 29.9 TNF STAT1 IL12RB1 IFNG CD4
50 neurosarcoidosis 29.9 TNF CD8A CD4

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



Diseases related to Macs Syndrome

Symptoms & Phenotypes for Macs Syndrome

Human phenotypes related to Macs Syndrome:

58 30 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 30 Very rare (1%) Very frequent (99-80%)
HP:0002650
2 high palate 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000218
3 coarse facial features 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000280
4 gingival overgrowth 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000212
5 pes planus 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001763
6 joint hypermobility 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001382
7 downslanted palpebral fissures 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000494
8 long philtrum 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000343
9 sparse scalp hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002209
10 redundant skin 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001582
11 hyperextensible skin 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000974
12 hirsutism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001007
13 upper eyelid edema 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012724
14 irregular dentition 58 30 Very rare (1%) Very frequent (99-80%)
HP:0040079
15 infra-orbital fold 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011232
16 umbilical hernia 58 30 Very rare (1%) Frequent (79-30%)
HP:0001537
17 cognitive impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0100543
18 bruising susceptibility 58 30 Very rare (1%) Frequent (79-30%)
HP:0000978
19 high pitched voice 58 30 Very rare (1%) Frequent (79-30%)
HP:0001620
20 abnormal sternum morphology 30 Frequent (33%) HP:0000766
21 cryptorchidism 58 30 Very rare (1%) Occasional (29-5%)
HP:0000028
22 premature ovarian insufficiency 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008209
23 brachydactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001156
24 hypergonadotropic hypogonadism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000815
25 increased susceptibility to fractures 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002659
26 high myopia 58 30 Very rare (1%) Occasional (29-5%)
HP:0011003
27 bronchiectasis 30 Occasional (7.5%) HP:0002110
28 single transverse palmar crease 30 Occasional (7.5%) HP:0000954
29 aortic aneurysm 30 Very rare (1%) HP:0004942
30 macrocephaly 30 Very rare (1%) HP:0000256
31 hypotonia 30 Very rare (1%) HP:0001252
32 wide nasal bridge 30 Very rare (1%) HP:0000431
33 thick vermilion border 30 Very rare (1%) HP:0012471
34 ichthyosis 30 Very rare (1%) HP:0008064
35 fatigue 30 Very rare (1%) HP:0012378
36 osteoporosis 30 Very rare (1%) HP:0000939
37 micrognathia 30 Very rare (1%) HP:0000347
38 epicanthus 30 Very rare (1%) HP:0000286
39 pectus excavatum 30 Very rare (1%) HP:0000767
40 palpebral edema 30 Very rare (1%) HP:0100540
41 joint laxity 30 Very rare (1%) HP:0001388
42 high forehead 30 Very rare (1%) HP:0000348
43 urethral stenosis 30 Very rare (1%) HP:0008661
44 prolonged bleeding time 30 Very rare (1%) HP:0003010
45 sparse hair 30 Very rare (1%) HP:0008070
46 sparse eyebrow 30 Very rare (1%) HP:0045075
47 recurrent aphthous stomatitis 30 Very rare (1%) HP:0011107
48 eclabion 30 Very rare (1%) HP:0012472
49 soft skin 30 Very rare (1%) HP:0000977
50 diffuse white matter abnormalities 30 Very rare (1%) HP:0007204

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

UMLS symptoms related to Macs Syndrome:


swelling of eyelid

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

25 (show all 27)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.81 IL10
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.81 IL10
3 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.81 IFNGR1 IL10
4 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.81 IFNGR1 IL12RB1 RIN2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.81 IL10
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.81 IL10
7 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.81 IL12RB1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.81 IL12RB1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.81 IL12RB1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-193 9.81 RIN2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.81 RIN2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.81 IL10
13 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.81 IL10
14 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.81 IL10 RIN2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-38 9.81 IL12RB1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.81 RIN2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.81 IL10
18 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.81 IL10
19 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.81 IFNGR1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-55 9.81 IL12RB1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.81 IFNGR1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.81 IL10
23 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.81 IL10
24 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.81 IL10
25 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.81 RIN2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.81 IL10
27 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.81 IL10

MGI Mouse Phenotypes related to Macs Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 10.03 CD4 CD8A IFNA1 IFNG IFNGR1 IFNGR2
2 neoplasm MP:0002006 9.91 FBLN5 IFNG IFNGR1 IL10 SLC11A1 STAT1
3 digestive/alimentary MP:0005381 9.87 CD4 IFNG IFNGR1 IL10 SLC11A1 STAT1
4 hematopoietic system MP:0005397 9.73 CD4 CD8A HSPD1 IFNA1 IFNG IFNGR1
5 respiratory system MP:0005388 9.7 FBLN5 HSPD1 IFNA1 IFNG IL10 STAT1
6 integument MP:0010771 9.36 CD4 CD8A FBLN5 HSPD1 IFNG IFNGR1

Drugs & Therapeutics for Macs Syndrome

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

(show all 50)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azithromycin Approved Phase 4 83905-01-5 447043
2
Ethambutol Approved Phase 4 74-55-5, 1070-11-7 3279 14052
3
Rifampicin Approved Phase 4 13292-46-1 135512673 5381226 135900090
4 Pharmaceutical Solutions Phase 4
5
Amikacin Approved, Investigational, Vet_approved Phase 3 37517-28-5, 39831-55-5 37768
6
Fluconazole Approved, Investigational Phase 3 86386-73-4 3365
7
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
8
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
9
Bedaquiline Approved Phase 2, Phase 3 843663-66-1 5388906
10
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 3 83-88-5 493570
11 Hormones Phase 3
12 Antifungal Agents Phase 3
13 Hormone Antagonists Phase 3
14 Vitamins Phase 3
15
Vitamin B2 Phase 3
16 Vitamin B Complex Phase 3
17
Nelfinavir Approved Phase 2 159989-64-7 64143
18
Ciprofloxacin Approved, Investigational Phase 2 85721-33-1, 93107-08-5 2764
19
Ritonavir Approved, Investigational Phase 2 155213-67-5 392622
20
Indinavir Approved Phase 2 150378-17-9 5362440
21
Streptomycin Approved, Vet_approved Phase 2 57-92-1 19649
22
Rifapentine Approved, Investigational Phase 2 61379-65-5 5462354
23 Anti-Retroviral Agents Phase 2
24 Anti-HIV Agents Phase 2
25 HIV Protease Inhibitors Phase 2
26
protease inhibitors Phase 2
27 Thioacetazone Phase 2
28 Antiviral Agents Phase 2
29 interferons Phase 2
30 Interferon-gamma Phase 2
31
Maraviroc Approved, Investigational Phase 1 376348-65-1 3002977
32
Thalidomide Approved, Investigational, Withdrawn Phase 1 50-35-1 5426
33
Zidovudine Approved Phase 1 30516-87-1 35370
34
Didanosine Approved Phase 1 69655-05-6 50599
35 Vaccines Phase 1
36 Angiogenesis Inhibitors Phase 1
37 Immunosuppressive Agents Phase 1
38 Immunologic Factors Phase 1
39 Adjuvants, Immunologic Phase 1
40 Interleukin-12 Phase 1
41 Antimetabolites Phase 1
42 Reverse Transcriptase Inhibitors Phase 1
43
Nitric Oxide Approved 10102-43-9 145068
44
Trifluridine Approved, Investigational 70-00-8 6256
45
Nevirapine Approved 129618-40-2 4463
46
Racepinephrine Approved, Vet_approved 51-43-4, 329-65-7 838 5816
47
Dexamethasone acetate Approved, Investigational, Vet_approved 1177-87-3 3680
48
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 3003 5743
49 Tin Fluorides
50 Epinephryl borate

Interventional clinical trials:

(show top 50) (show all 69)
# Name Status NCT ID Phase Drugs
1 Open Study of Clarithromycin for the Treatment of Infections Caused by Nontuberculous Mycobacteria (NTM) Completed NCT00600769 Phase 4 Clarithromycin
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 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
6 A Randomized Controlled Trial on Hypertonic Saline Inhalation in Patients With Nodular-bronchiectatic Mycobacterium Avium Complex Pulmonary Disease Recruiting NCT05192057 Phase 4
7 Hypertonic Saline for Treatment of Pulmonary Mycobacterium Avium Complex (MAC) Disease Recruiting NCT04921943 Phase 4 Hypertonic saline;Azithromycin;Ethambutol;Rifampin
8 Treatment of Crohn's Disease With an Antibiotic Regimen Directed Against Mycobacterium Avium Paratuberculosis Withdrawn NCT00513552 Phase 4 Rifabutin, Clarithromycin, and Clofazimine
9 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
10 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
11 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
12 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
13 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
14 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
15 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
16 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
17 Comparison of Two- Versus Three-antibiotic Therapy for Pulmonary Mycobacterium Avium Complex Disease Recruiting NCT03672630 Phase 2, Phase 3 Azithromycin;Ethambutol;Rifampin
18 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
19 Study of RHB-204 for the Treatment of Pulmonary Mycobacterium Avium Complex (MAC) Disease in Adults With Nodular Bronchiectasis (CleaR-MAC Trial) Recruiting NCT04616924 Phase 3 RHB-204;Placebo
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 A Phase 2/3, Randomized, Double-blind, Placebo-controlled, Multicenter, Prospective Study to Assess the Efficacy, Safety, and Pharmacokinetics of Orally Administered Epetraborole in Patients With Treatment-refractory Mycobacterium Avium Complex Lung Disease Recruiting NCT05327803 Phase 2, Phase 3 Epetraborole;Placebo
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 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
25 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
26 Phase II Study of Amithiozone (Thiacetazone) for Patients With Mycobacterium Avium Complex Pulmonary Disease Completed NCT00004689 Phase 2 amithiozone;clarithromycin;ethambutol;rifampin;streptomycin
27 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
28 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
29 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
30 Early Bactericidal Activity of Standard Drugs Used to Treat Mycobacterium Avium Complex: a Pilot Study Recruiting NCT04287049 Phase 2 Azithromycin
31 Phase 2 Study of Clofazimine for the Treatment of Pulmonary Mycobacterium Avium Disease Recruiting NCT02968212 Phase 2 Clofazimine
32 A Randomized, Double-Blinded, Placebo-Controlled, Multicenter, Phase 2, Dose-Ranging Study to Evaluate the Efficacy, Safety, Tolerability, and Pharmacokinetics of SPR720 as Compared With Placebo for the Treatment of Patients With Mycobacterium Avium Complex (MAC) Pulmonary Disease Not yet recruiting NCT05496374 Phase 2 Placebo;SPR720 500 mg;SPR720 1000 mg
33 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 2 SPR720;Placebo;Open-label Standard of Care
34 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
35 Improving Tolerance of Treatment of Pulmonary Mycobacterium Avium Complex Infections Withdrawn NCT01719042 Phase 2 Zofran (8mg)
36 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
37 A Drug Interaction Study Investigating the Effect of Rifabutin on the Pharmacokinetics of Maraviroc Completed NCT01894776 Phase 1 Rifabutin;Maraviroc
38 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
39 Placebo-Controlled Trial of Safety and Efficacy of Thalidomide in Patients With Infections Due to Mycobacterium and/or HIV Completed NCT00002104 Phase 1 Thalidomide
40 Subcutaneously Administered Interleukin-12 Therapy in HIV-Infected Patients With Disseminated Mycobacterium Avium Complex Infection Completed NCT00001763 Phase 1 Interleukin-12
41 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
42 A Pilot Study to Assess the Effect of Intermittent Inhaled Nitric Oxide on the Treatment of Nontuberculous Mycobacteria (NTM) Lung Infection in Cystic Fibrosis and Non-Cystic Fibrosis Patients Unknown status NCT04685720
43 The Role of Inflammasome in Inflammatory Macrophage in Mycobacterium Avium Complex-lung Disease and Mycobacterium Abscessus-lung Disease Unknown status NCT02005094
44 DRUG USE INVESTIGATION FOR HIV INFECTION PATIENTS OF MYCOBUTIN (REGULATORY POST MARKETING COMMITMENT PLAN). Completed NCT00810446 rifabutin
45 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
46 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
47 IND for One Patient to Receive Clofazamine for Treatment of MAI Completed NCT00652067
48 Pilot Study to Assess Safety and Efficacy of Short Course Multiple Drug Therapy for Adult Patients With Mycobacterium Avium Intracellulare Complex (MAC) Infection Associated With Mulit Focal Bronchiectasis and Multiple Small Nodules Completed NCT00826423
49 The Pathogenic Role and Diagnostic Implication of Program Cell Death Receptor 1 Expressed on T Cells in Mycobacterium Avium Complex Lung Disease Completed NCT02779049
50 An Open-Label Study of the Use of Azithromycin in Patients With Symptomatic Disseminated Mycobacterium Avium-Intracellulare Complex (MAC) Infection Failing Current Therapy Completed NCT00002089 Azithromycin

Search NIH Clinical Center for Macs Syndrome

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Clofazimine

Cochrane evidence based reviews: mycobacterium avium-intracellulare infection

Genetic Tests for Macs Syndrome

Genetic tests related to Macs Syndrome:

# Genetic test Affiliating Genes
1 Rin2 Syndrome 28 RIN2

Anatomical Context for Macs Syndrome

Organs/tissues related to Macs Syndrome:

MalaCards : Skin, Bone Marrow, Lung, T Cells, Bone, Testis, Monocytes
ODiseA: Blood And Bone Marrow

Publications for Macs Syndrome

Articles related to Macs Syndrome:

(show top 50) (show all 6199)
# Title Authors PMID Year
1
Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum. 62 57 5
30769224 2020
2
Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2. 62 57 5
24449201 2014
3
MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking. 62 57 5
20954239 2010
4
The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2). 62 57 5
20424861 2010
5
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. 62 57 5
19631308 2009
6
Comparison between T-MACS score and TIMI score in patients complaining of chest pain. 62
36180376 2023
7
Dust dominates the summer melting of glacier ablation zones on the northeastern Tibetan Plateau. 62
36208735 2023
8
GAN Compression: Efficient Architectures for Interactive Conditional GANs. 62
34752389 2022
9
Co-immobilization of electron mediator and laccase onto dialdehyde starch cross-linked magnetic chitosan nanomaterials for organic pollutants' removal. 62
36355205 2022
10
Pulmonary and physical function limitations in aging men with and without HIV from the Multicenter AIDS Cohort Study (MACS). 62
36244514 2022
11
Impact of initiation of amikacin liposome inhalation suspension on hospitalizations and other healthcare resource utilization measures: a retrospective cohort study in real-world settings. 62
36463137 2022
12
Epidural intracranial abscesses and multiple bone metastases caused by disseminated Mycobacterium avium complex infection: illustrative case. 62
36471577 2022
13
T helper cell-mediated epitranscriptomic regulation via m6A RNA methylation bridges link between coronary artery disease and invasive ductal carcinoma. 62
35776197 2022
14
The upregulation of Gata transcription factors family and FOG-1 in expanded and differentiated cord blood-derived CD34+ hematopoietic stem cells to megakaryocyte lineage during co-culture with cord blood mesenchymal stem cells. 62
35690555 2022
15
The effect of modified constraint-induced movement therapy in children with hemiparetic cerebral palsy. Consecutive or intermittent days? 62
34775897 2022
16
Vaccination inducing durable and robust antigen-specific Th1/Th17 immune responses contributes to prophylactic protection against Mycobacterium avium infection but is ineffective as an adjunct to antibiotic treatment in chronic disease. 62
35499090 2022
17
Susceptibility and characteristics of infections in patients with glucocorticoid excess or insufficiency: the ICARO tool. 62
36102827 2022
18
Use of Anti-Glycopeptidolipid-Core Antibodies Serology for Diagnosis and Monitoring of Mycobacterium avium Complex Pulmonary Disease in the United States. 62
36349274 2022
19
Dexterity of the Less Affected Hand in Children With Hemiplegic Cerebral Palsy. 62
33605176 2022
20
Survivin; a novel therapeutic target that correlates with survival of autoreactive T lymphocytes obtained from patients with ankylosing spondylitis. 62
35995118 2022
21
Reliability and validity of the Dutch-language version of the Viking Speech Scale in children with cerebral palsy. 62
36327098 2022
22
IL-6 secretion of CD4+ T cells stimulated by LC3-positive extracellular vesicles in human epithelial ovarian cancer. 62
35871126 2022
23
Nontuberculous mycobacteria infections of the pleura: A systematic review. 62
36335889 2022
24
Prognostic significance of radiological pleuroparenchymal fibroelastosis in Mycobacterium avium complex lung disease: a multicentre retrospective cohort study. 62
36368892 2022
25
Reduced phagocytic activity of human alveolar macrophages infected with Mycobacterium avium complex. 62
35926765 2022
26
Clinical Outcome with Standard Regimen plus Clofazimine or Moxifloxacin in Cavitary Mycobacterium avium Complex Pulmonary Disease. 62
36326247 2022
27
Pulmonary Mycobacterium avium Complex Infection Showing Extensive Consolidation. 62
36351585 2022
28
Use of Statistical Process Control Methods for Early Detection of Healthcare Facility-Associated Nontuberculous Mycobacterial Outbreaks: A Single Center Pilot Study. 62
36444485 2022
29
Circulating endothelial and angiogenic cells predict hippocampal volume as a function of HIV status. 62
36418739 2022
30
MR Multitasking-based multi-dimensional assessment of cardiovascular system (MT-MACS) with extended spatial coverage and water-fat separation. 62
36336794 2022
31
T-MACS score vs HEART score identification of major adverse cardiac events in the emergency department. 62
36435006 2022
32
Prehospital Comparison of the HEAR and HE-MACS Scores for 30-Day Adverse Cardiac Events. 62
36322910 2022
33
Dynamic impairment classification through arrayed comparisons. 62
36318895 2022
34
LightSeizureNet: A Lightweight Deep Learning Model for Real-Time Epileptic Seizure Detection. 62
36417737 2022
35
Higher Soluble CD163 in Blood Is Associated With Significant Depression Symptoms in Men With HIV. 62
35969468 2022
36
Nondestructive isolation of mesenchymal stem cells from bone marrow using DNA aptamers. 62
36255234 2022
37
MAX: a simple, affordable, and rapid tissue clearing reagent for 3D imaging of wide variety of biological specimens. 62
36376344 2022
38
Effects of glucose on the proliferation of human umbilical cord blood hematopoietic stem cells. 62
36434166 2022
39
Recovery of Brucella in raw milk Minas artisanal cheese approved for consumption by official inspection agency in Brazil: assessment of prevalence and risk factors through One Health integrated approaches. 62
36055973 2022
40
Enhancing iPSC-CM Maturation Using a Matrigel-Coated Micropatterned PDMS Substrate. 62
36383047 2022
41
Immunomodulatory effects of long-chain n-3 polyunsaturated fatty acids (n-3 PUFA) on porcine monocytes (CD14 +) immune response in vitro. 62
36463585 2022
42
Overlooked complication of Cushing's syndrome: Reactivation of hepatitis B. 62
36443641 2022
43
Quantitative Transcriptome Analysis of Purified Equine Mast Cells Identifies a Dominant Mucosal Mast Cell Population with Possible Inflammatory Functions in Airways of Asthmatic Horses. 62
36430453 2022
44
Single-cell RNA analysis of chemokine expression in heterogeneous CD14+ monocytes with lipopolysaccharide-induced bone resorption. 62
36088998 2022
45
High co-expression of immune checkpoint receptors PD-1, CTLA-4, LAG-3, TIM-3, and TIGIT on tumor-infiltrating lymphocytes in early-stage breast cancer. 62
36271406 2022
46
Encapsulation of Manganese Porphyrin in Chondroitin Sulfate-A Microparticles for Long Term Reactive Oxygen Species Scavenging. 62
36444349 2022
47
Isolation and in vitro Expansion of Regulatory T Cells from β-Thalassemia Major Kids and in vitro Evaluation of Their Plasticity and Inhibitory Effects in the Presence of Pro-Inflammatory Cytokines. 62
36265456 2022
48
The European Chub (Squalius cephalus) as an indicator of reservoirs pollution and human health risk assessment associated with its consumption. 62
35940479 2022
49
Characterization of a Stemness-Optimized Purification Method for Human Dental-Pulp Stem Cells: An Approach to Standardization. 62
36291072 2022
50
Early risk assessment in patients with suspected NSTE-ACS; a retrospective cohort study. 62
35939854 2022

Variations for Macs Syndrome

ClinVar genetic disease variations for Macs Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RIN2 NM_018993.4(RIN2):c.1731del (p.Ile578fs) DEL Pathogenic
1296 rs759390822 GRCh37: 20:19956394-19956394
GRCh38: 20:19975750-19975750
2 RIN2 NM_018993.4(RIN2):c.1914_1915del (p.Glu638fs) DEL Pathogenic
36923 rs587776915 GRCh37: 20:19970801-19970802
GRCh38: 20:19990157-19990158
3 RIN2 NM_018993.4(RIN2):c.1731dup (p.Ile578fs) DUP Pathogenic
137627 rs759390822 GRCh37: 20:19956393-19956394
GRCh38: 20:19975749-19975750
4 RIN2 NM_018993.4(RIN2):c.2104dup (p.Leu702fs) DUP Likely Pathogenic
590794 rs1568718508 GRCh37: 20:19972845-19972846
GRCh38: 20:19992201-19992202
5 RIN2 NM_018993.4(RIN2):c.277_278dup (p.His94fs) MICROSAT Likely Pathogenic
804430 rs1600939486 GRCh37: 20:19937373-19937374
GRCh38: 20:19956729-19956730
6 RIN2 NM_018993.4(RIN2):c.899G>A (p.Gly300Asp) SNV Likely Benign
1327956 GRCh37: 20:19955568-19955568
GRCh38: 20:19974924-19974924
7 RIN2 NM_018993.4(RIN2):c.1642G>A (p.Val548Met) SNV Likely Benign
374444 rs181298473 GRCh37: 20:19956311-19956311
GRCh38: 20:19975667-19975667
8 RIN2 NM_018993.4(RIN2):c.1818C>T (p.His606=) SNV Benign
257654 rs2076584 GRCh37: 20:19970705-19970705
GRCh38: 20:19990061-19990061
9 RIN2 NM_018993.4(RIN2):c.2201-47G>A SNV Benign
1282512 GRCh37: 20:19977276-19977276
GRCh38: 20:19996632-19996632

Expression for Macs Syndrome

Search GEO for disease gene expression data for Macs Syndrome.

Pathways for Macs Syndrome

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

(show all 41)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 TNF STAT1 SLC11A1 IL12RB1 IL10 IFNGR2
2
Show member pathways
13.5 TNF STAT1 IL12RB1 IL10 IFNGR2 IFNGR1
3
Show member pathways
13.24 TNF STAT1 IL12RB1 IL10 IFNGR2 IFNGR1
4
Show member pathways
12.66 TNF STAT1 IFNGR1 IFNG CD4
5
Show member pathways
12.57 TNF STAT1 IL12RB1 IL10 IFNG CD4
6 12.55 TNF STAT1 IL10 IFNG IFNA1 CD8A
7
Show member pathways
12.54 IFNA1 IFNG IFNGR1 IFNGR2 IL10 IL12RB1
8
Show member pathways
12.53 STAT1 IFNGR2 IFNGR1 IFNG IFNA1
9
Show member pathways
12.42 TNF STAT1 IFNGR2 IFNGR1 IFNG
10
Show member pathways
12.33 IFNG IFNGR1 IFNGR2 STAT1 TNF
11
Show member pathways
12.21 STAT1 IL12RB1 IL10 IFNG
12 12.19 IFNG IFNGR1 IFNGR2 STAT1 TNF
13
Show member pathways
12.1 STAT1 IL12RB1 CD4
14
Show member pathways
12.06 TNF IL12RB1 IL10 IFNG CD8A CD4
15 12 TNF IL10 IFNG CD8A CD4
16 11.99 TNF STAT1 IL10 IFNGR2 IFNGR1 IFNG
17
Show member pathways
11.97 CD4 CD8A IFNG IL12RB1 STAT1
18
Show member pathways
11.91 TNF STAT1 IFNG
19 11.89 TNF STAT1 IL10
20 11.89 TNF STAT1 IL10 IFNG
21
Show member pathways
11.88 CD4 IFNG IL12RB1 STAT1
22 11.83 STAT1 IFNGR2 IFNGR1 IFNG IFNA1
23
Show member pathways
11.82 TNF IFNGR2 IFNGR1 IFNG
24 11.77 STAT1 IL10 IFNG CD4
25 11.72 STAT1 IFNGR1 IFNG CD4
26 11.72 TNF IL10 IFNG CD8A CD4
27 11.7 TNF IL10 IFNG
28 11.64 CD4 CD8A IFNG IL10 IL12RB1 TNF
29 11.58 STAT1 IFNGR1 IFNG
30 11.5 CD4 IFNG IL10
31 11.43 TNF STAT1 IFNGR2 IFNGR1 IFNG
32 11.42 STAT1 IFNGR2 IFNGR1 IFNG
33
Show member pathways
11.4 TNF STAT1 IL12RB1 IL10 IFNGR1 IFNG
34
Show member pathways
11.39 TNF IL10 IFNG
35 11.32 STAT1 IFNGR1 IFNG
36 11.26 TNF IL10 IFNG CD4
37 11.25 TNF IL10 IFNG
38
Show member pathways
11.23 TNF STAT1 IL12RB1 IL10 IFNGR2 IFNGR1
39 11.16 STAT1 IFNGR2 IFNGR1
40 11.1 TNF IL12RB1 IL10 IFNGR2 IFNGR1 IFNG
41 10.94 IL12RB1 IFNG CD4

GO Terms for Macs Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.64 TNF STRA6 SLC11A1 IFNGR2 IFNGR1 CD8A
2 plasma membrane GO:0005887 9.64 TNF STRA6 SLC11A1 IFNGR2 IFNGR1 CD8A

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 response to virus GO:0009615 10.15 IFNG IFNGR1 IFNGR2 TNF
2 immune response GO:0006955 10.14 TNF SLC11A1 IL10 IFNG CD8A CD4
3 humoral immune response GO:0006959 10.08 TNF IFNG IFNA1
4 T cell activation GO:0042110 10.07 HSPD1 CD8A CD4
5 cellular response to virus GO:0098586 10.06 IFNA1 IFNG IFNGR1 IFNGR2
6 positive regulation of phagocytosis GO:0050766 10.05 TNF SLC11A1 IFNG
7 B cell proliferation GO:0042100 10.03 IL10 IFNA1 HSPD1
8 positive regulation of type II interferon production GO:0032729 10.01 TNF SLC11A1 IL12RB1 HSPD1
9 positive regulation of cytokine production GO:0001819 9.97 TNF SLC11A1 IL10 IFNG
10 cytokine-mediated signaling pathway GO:0019221 9.96 IFNA1 IFNGR1 IFNGR2 IL12RB1 STAT1
11 positive regulation of amyloid-beta formation GO:1902004 9.91 TNF IFNGR1 IFNG
12 positive regulation of NMDA glutamate receptor activity GO:1904783 9.88 IFNGR2 IFNG
13 negative regulation of cytokine production involved in immune response GO:0002719 9.87 TNF IL10
14 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.83 TNF IFNG
15 positive regulation of nitrogen compound metabolic process GO:0051173 9.81 TNF IFNG
16 positive regulation of vitamin D biosynthetic process GO:0060557 9.8 TNF IFNG
17 astrocyte activation GO:0048143 9.8 TNF IFNGR1 IFNG
18 chronic inflammatory response to antigenic stimulus GO:0002439 9.78 TNF IL10
19 negative regulation of amyloid-beta clearance GO:1900222 9.63 TNF IFNGR1 IFNG
20 microglial cell activation GO:0001774 9.56 TNF IFNGR2 IFNGR1 IFNG
21 type II interferon-mediated signaling pathway GO:0060333 9.23 STAT1 IFNGR2 IFNGR1 IFNG

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

# Name GO ID Score Top Affiliating Genes
1 cytokine receptor activity GO:0004896 9.43 IL12RB1 IFNGR2 IFNGR1
2 type II interferon receptor activity GO:0004906 8.92 IFNGR2 IFNGR1

Sources for Macs Syndrome

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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