Macs Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MACS MCID: MCS006 MIFTS: 65	Macs Syndrome (MACS) Categories: Fetal diseases, Genetic diseases, Infectious diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Infectious diseases
Anatomical: Neuronal diseases Skin diseases Respiratory diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Other specified congenital malformations of skin

Orphanet: ⁵⁸

Rare neurological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹¹ DOID:2755

OMIM® ⁵⁷ 613075

MeSH ⁴³ D000505 D003483 D012600 more

NCIt ⁴⁹ C36197

SNOMED-CT ⁶⁸ 14009004

ICD10 via Orphanet ³² Q82.8

UMLS via Orphanet ⁷² C2751321

Orphanet ⁵⁸ ORPHA217335

MedGen ⁴⁰ C2751321

EFO ¹⁶ EFO_0007386

UMLS ⁷¹ C0026916 C1411980 C2751321

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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

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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:

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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

Sources

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

Azithromycin

Approved

Phase 4

83905-01-5

447043

Ethambutol

Approved

Phase 4

74-55-5, 1070-11-7

3279 14052

Rifampicin

Approved

Phase 4

13292-46-1

135512673 5381226 135900090

Pharmaceutical Solutions

Phase 4

Amikacin

Approved, Investigational, Vet_approved

Phase 3

37517-28-5, 39831-55-5

37768

Fluconazole

Approved, Investigational

Phase 3

86386-73-4

3365

Miconazole

Approved, Investigational, Vet_approved

Phase 3

22916-47-8

4189

Clotrimazole

Approved, Vet_approved

Phase 3

23593-75-1

2812

Bedaquiline

Approved

Phase 2, Phase 3

843663-66-1

5388906

Riboflavin

Approved, Investigational, Nutraceutical, Vet_approved

Phase 3

83-88-5

493570

Hormones

Phase 3

Antifungal Agents

Phase 3

Hormone Antagonists

Phase 3

Vitamins

Phase 3

Vitamin B2

Phase 3

Vitamin B Complex

Phase 3

Nelfinavir

Approved

Phase 2

159989-64-7

64143

Ciprofloxacin

Approved, Investigational

Phase 2

85721-33-1, 93107-08-5

2764

Ritonavir

Approved, Investigational

Phase 2

155213-67-5

392622

Indinavir

Approved

Phase 2

150378-17-9

5362440

Streptomycin

Approved, Vet_approved

Phase 2

57-92-1

19649

Rifapentine

Approved, Investigational

Phase 2

61379-65-5

5462354

Anti-Retroviral Agents

Phase 2

Anti-HIV Agents

Phase 2

HIV Protease Inhibitors

Phase 2

protease inhibitors

Phase 2

Thioacetazone

Phase 2

Antiviral Agents

Phase 2

interferons

Phase 2

Interferon-gamma

Phase 2

Maraviroc

Approved, Investigational

Phase 1

376348-65-1

3002977

Thalidomide

Approved, Investigational, Withdrawn

Phase 1

50-35-1

5426

Zidovudine

Approved

Phase 1

30516-87-1

35370

Didanosine

Approved

Phase 1

69655-05-6

50599

Vaccines

Phase 1

Angiogenesis Inhibitors

Phase 1

Immunosuppressive Agents

Phase 1

Immunologic Factors

Phase 1

Adjuvants, Immunologic

Phase 1

Interleukin-12

Phase 1

Antimetabolites

Phase 1

Reverse Transcriptase Inhibitors

Phase 1

Nitric Oxide

Approved

10102-43-9

145068

Trifluridine

Approved, Investigational

70-00-8

6256

Nevirapine

Approved

129618-40-2

4463

Racepinephrine

Approved, Vet_approved

51-43-4, 329-65-7

838 5816

Dexamethasone acetate

Approved, Investigational, Vet_approved

1177-87-3

3680

Dexamethasone

Approved, Investigational, Vet_approved

50-02-2

3003 5743

Tin Fluorides

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

Sources

Genetic Tests for Macs Syndrome

Genetic tests related to Macs Syndrome:

#	Genetic test	Affiliating Genes
1	Rin2 Syndrome ²⁸	RIN2

Sources

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

Sources

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	Kameli R...Tavasoli AR	30769224	2020
2	Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2. ⁶² ⁵⁷ ⁵	Aslanger AD...Kayserili H	24449201	2014
3	MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking. ⁶² ⁵⁷ ⁵	Albrecht B...Morava E	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	Syx D...Verloes A	20424861	2010
5	RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. ⁶² ⁵⁷ ⁵	Basel-Vanagaite L...Sprecher E	19631308	2009
6	Comparison between T-MACS score and TIMI score in patients complaining of chest pain. ⁶²	Imamura T	36180376	2023
7	Dust dominates the summer melting of glacier ablation zones on the northeastern Tibetan Plateau. ⁶²	Li Y...Tian L	36208735	2023
8	GAN Compression: Efficient Architectures for Interactive Conditional GANs. ⁶²	Li M...Han S	34752389	2022
9	Co-immobilization of electron mediator and laccase onto dialdehyde starch cross-linked magnetic chitosan nanomaterials for organic pollutants' removal. ⁶²	Liu R...Hu Y	36355205	2022
10	Pulmonary and physical function limitations in aging men with and without HIV from the Multicenter AIDS Cohort Study (MACS). ⁶²	Abdo M...Erlandson KM	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	Aksamit T...Chatterjee A	36463137	2022
12	Epidural intracranial abscesses and multiple bone metastases caused by disseminated Mycobacterium avium complex infection: illustrative case. ⁶²	Nomura Y...Saito A	36471577	2022
13	T helper cell-mediated epitranscriptomic regulation via m6A RNA methylation bridges link between coronary artery disease and invasive ductal carcinoma. ⁶²	Rakshit S...Sarkar K	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	Mansoorabadi Z...Kheirandish M	35690555	2022
15	The effect of modified constraint-induced movement therapy in children with hemiparetic cerebral palsy. Consecutive or intermittent days? ⁶²	Tezcan S...Cankaya T	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	Lee JM...Shin SJ	35499090	2022
17	Susceptibility and characteristics of infections in patients with glucocorticoid excess or insufficiency: the ICARO tool. ⁶²	Minnetti M...Isidori AM	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	Hernandez AG...Winthrop KL	36349274	2022
19	Dexterity of the Less Affected Hand in Children With Hemiplegic Cerebral Palsy. ⁶²	Burn MB...Gogola GR	33605176	2022
20	Survivin; a novel therapeutic target that correlates with survival of autoreactive T lymphocytes obtained from patients with ankylosing spondylitis. ⁶²	Shomali N...Sandoghchian Shotorbani S	35995118	2022
21	Reliability and validity of the Dutch-language version of the Viking Speech Scale in children with cerebral palsy. ⁶²	Spaans IEM...Pennington L	36327098	2022
22	IL-6 secretion of CD4+ T cells stimulated by LC3-positive extracellular vesicles in human epithelial ovarian cancer. ⁶²	Zhu XL...Cai YL	35871126	2022
23	Nontuberculous mycobacteria infections of the pleura: A systematic review. ⁶²	Bachar K...Segel MJ	36335889	2022
24	Prognostic significance of radiological pleuroparenchymal fibroelastosis in Mycobacterium avium complex lung disease: a multicentre retrospective cohort study. ⁶²	Aono Y...Suda T	36368892	2022
25	Reduced phagocytic activity of human alveolar macrophages infected with Mycobacterium avium complex. ⁶²	Ikegami H...Yatera K	35926765	2022
26	Clinical Outcome with Standard Regimen plus Clofazimine or Moxifloxacin in Cavitary Mycobacterium avium Complex Pulmonary Disease. ⁶²	Park YE...Jo KW	36326247	2022
27	Pulmonary Mycobacterium avium Complex Infection Showing Extensive Consolidation. ⁶²	Yamazoe M...Yanagi M	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	Baker AW...Anderson DJ	36444485	2022
29	Circulating endothelial and angiogenic cells predict hippocampal volume as a function of HIV status. ⁶²	McIntosh R...Hurwitz BE	36418739	2022
30	MR Multitasking-based multi-dimensional assessment of cardiovascular system (MT-MACS) with extended spatial coverage and water-fat separation. ⁶²	Hu Z...Fan Z	36336794	2022
31	T-MACS score vs HEART score identification of major adverse cardiac events in the emergency department. ⁶²	Akman G...Colak S	36435006	2022
32	Prehospital Comparison of the HEAR and HE-MACS Scores for 30-Day Adverse Cardiac Events. ⁶²	Popp LM...Stopyra JP	36322910	2022
33	Dynamic impairment classification through arrayed comparisons. ⁶²	Wang Z...Becker JT	36318895	2022
34	LightSeizureNet: A Lightweight Deep Learning Model for Real-Time Epileptic Seizure Detection. ⁶²	Qiu S...Jiao H	36417737	2022
35	Higher Soluble CD163 in Blood Is Associated With Significant Depression Symptoms in Men With HIV. ⁶²	Anderson AM...Becker JT	35969468	2022
36	Nondestructive isolation of mesenchymal stem cells from bone marrow using DNA aptamers. ⁶²	Wen X...Guo Q	36255234	2022
37	MAX: a simple, affordable, and rapid tissue clearing reagent for 3D imaging of wide variety of biological specimens. ⁶²	Lee B...Sun W	36376344	2022
38	Effects of glucose on the proliferation of human umbilical cord blood hematopoietic stem cells. ⁶²	Dadkhah M...Tehrani RM	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	Silva MR...Fonseca-Junior AA	36055973	2022
40	Enhancing iPSC-CM Maturation Using a Matrigel-Coated Micropatterned PDMS Substrate. ⁶²	Jimenez-Vazquez EN...Jones DK	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	Avila G...Ceciliani F	36463585	2022
42	Overlooked complication of Cushing's syndrome: Reactivation of hepatitis B. ⁶²	Barlas T...Yetkin I	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	Akula S...Wernersson S	36430453	2022
44	Single-cell RNA analysis of chemokine expression in heterogeneous CD14+ monocytes with lipopolysaccharide-induced bone resorption. ⁶²	Luo J...Quan J	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	Mollavelioglu B...Ozmen V	36271406	2022
46	Encapsulation of Manganese Porphyrin in Chondroitin Sulfate-A Microparticles for Long Term Reactive Oxygen Species Scavenging. ⁶²	Lee FS...Wachs RA	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	Mansourabadi AH...Amirzargar A	36265456	2022
48	The European Chub (Squalius cephalus) as an indicator of reservoirs pollution and human health risk assessment associated with its consumption. ⁶²	Nikolic D...Raskovic B	35940479	2022
49	Characterization of a Stemness-Optimized Purification Method for Human Dental-Pulp Stem Cells: An Approach to Standardization. ⁶²	Dieterle MP...Proksch S	36291072	2022
50	Early risk assessment in patients with suspected NSTE-ACS; a retrospective cohort study. ⁶²	Smulders KRR...Vlaar PJ	35939854	2022

Sources

Genes for Macs Syndrome

Genes related to Macs Syndrome (1 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RIN2	Ras And Rab Interactor 2	Protein Coding	1401.24	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders Publications Summaries (show sections)	19631308 20424861 20954239 (more) 24449201 30769224
2	FBLN5	Fibulin 5	Protein Coding	6.99	GeneCards inferred via : Publications (show sections)
3	CD4	CD4 Molecule	Protein Coding	6.55	DISEASES inferred ¹⁴
4	IFNGR1	Interferon Gamma Receptor 1	Protein Coding	6.3	DISEASES inferred ¹⁴
5	SLC11A1	Solute Carrier Family 11 Member 1	Protein Coding	5.77	DISEASES inferred ¹⁴
6	IFNG	Interferon Gamma	Protein Coding	5.55	DISEASES inferred ¹⁴
7	HSPD1	Heat Shock Protein Family D (Hsp60) Member 1	Protein Coding	5.51	DISEASES inferred ¹⁴
8	STAT1	Signal Transducer And Activator Of Transcription 1	Protein Coding	5.44	DISEASES inferred ¹⁴
9	TNF	Tumor Necrosis Factor	Protein Coding	5.4	DISEASES inferred ¹⁴
10	IL12RB1	Interleukin 12 Receptor Subunit Beta 1	Protein Coding	5.21	DISEASES inferred ¹⁴
11	IFNA1	Interferon Alpha 1	Protein Coding	5.16	DISEASES inferred ¹⁴
12	CHP2	Calcineurin Like EF-Hand Protein 2	Protein Coding	5.13	DISEASES inferred ¹⁴
13	IFNGR2	Interferon Gamma Receptor 2	Protein Coding	5.1	DISEASES inferred ¹⁴
14	IL10	Interleukin 10	Protein Coding	5.07	DISEASES inferred ¹⁴
15	CD8A	CD8a Molecule	Protein Coding	5.04	DISEASES inferred ¹⁴
16	STRA6	Signaling Receptor And Transporter Of Retinol STRA6	Protein Coding	5.03	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Macs Syndrome

Search GEO for disease gene expression data for Macs Syndrome.

Sources

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	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	13.93	TNF STAT1 SLC11A1 IL12RB1 IL10 IFNGR2
2	TGF-Beta Pathway ⁶⁴ Show member pathways JAK-STAT Pathway ⁶⁴ JNK Pathway ⁶⁴ MAPK Family Pathway ⁶⁴ Regulation of eIF4 and p70S6K ⁶⁴ SOCS Pathway ⁶⁴	13.5	TNF STAT1 IL12RB1 IL10 IFNGR2 IFNGR1
3	Cytokine Signaling in Immune system ⁶⁶ Show member pathways Signaling by Interleukins ⁶⁶	13.24	TNF STAT1 IL12RB1 IL10 IFNGR2 IFNGR1
4	4-1BB Pathway ⁶⁴ Show member pathways CD27 Pathway ⁶⁴ CD40 Signaling ⁶⁴ CMV and MAPK Pathways ⁶⁴ NF-KappaB Activation by EBV ⁶⁴ NF-kappaB Activation by Viruses ⁶⁴ PKR Pathway ⁶⁴ SUMO Pathway ⁶⁴ TNFR2 Pathway ⁶⁴	12.66	TNF STAT1 IFNGR1 IFNG CD4
5	Immune response IL-23 signaling pathway ²² Show member pathways Angiopoietin receptor Tie2-mediated signaling ⁶¹ Angiopoietin-TIE2 Signaling ⁶⁴ Development Angiopoietin - Tie2 signaling ²² Development PDGF signaling via STATs and NF-kB ²² IL23-mediated signaling events ⁶¹ Immune response IL-10 signaling pathway ²² RAC1/PAK1/p38/MMP2 pathway ⁷⁴	12.57	TNF STAT1 IL12RB1 IL10 IFNG CD4
6	NF-kappaB Signaling ³	12.55	TNF STAT1 IL10 IFNG IFNA1 CD8A
7	Overview of interferons-mediated signaling pathway ⁷⁴ Show member pathways all-trans-Retinoic Acid Mediated Apoptosis ⁶⁴ Cytokine Network ⁶⁴ Immune response IFN alpha/beta signaling pathway ²² Interferon alpha/beta signaling ⁶⁶ Jak/STAT Signaling Pathway ⁶⁵ Regulation of IFNA/IFNB signaling ⁶⁶ Type III interferon signaling ⁷⁴	12.54	IFNA1 IFNG IFNGR1 IFNGR2 IL10 IL12RB1
8	Interferon gamma signaling ⁶⁶ Show member pathways Interferon Signaling ⁶⁶ Regulation of IFNG signaling ⁶⁶	12.53	STAT1 IFNGR2 IFNGR1 IFNG IFNA1
9	Bacterial infections in CF airways ²² Show member pathways Altered glycosylation of MUC1 in tumor microenvironment ⁷⁴ IL-1 beta-dependent CFTR expression ²² IL1-mediated signaling events ⁶¹ Immune response Bacterial infections in normal airways ²² Immune response TLR signaling pathways ²² NTHi-Induced Signaling ⁶⁴ Signal transduction through IL1R ⁷⁴	12.42	TNF STAT1 IFNGR2 IFNGR1 IFNG
10	Toll Comparative Pathway ⁶⁴ Show member pathways IL-1 Pathway ⁶⁴ Immune response MIF in innate immunity response ²² iNOS Signaling ⁶⁴ TLR-TRIF Pathway ⁶⁴	12.33	IFNG IFNGR1 IFNGR2 STAT1 TNF
11	Interleukin-12 family signaling ⁶⁶ Show member pathways Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation ⁶⁶ Interleukin-12 signaling ⁶⁶ Interleukin-23 signaling ⁶⁶ Interleukin-27 signaling ⁶⁶ Interleukin-35 Signalling ⁶⁶	12.21	STAT1 IL12RB1 IL10 IFNG
12	Colorectal Cancer Metastasis ⁶⁴	12.19	IFNG IFNGR1 IFNGR2 STAT1 TNF
13	Immune response Antigen presentation by MHC class II ²² Show member pathways G-protein signaling N-RAS regulation pathway ²² IL-22 Pathway ⁶⁴ Immune response IL-22 signaling pathway ²²	12.1	STAT1 IL12RB1 CD4
14	T-cell activation SARS-CoV-2 ⁷⁴ Show member pathways T-cell antigen receptor (TCR) pathway during Staphylococcus aureus infection ⁷⁴	12.06	TNF IL12RB1 IL10 IFNG CD8A CD4
15	Hematopoietic Stem Cells and Lineage-specific Markers ⁶⁵	12	TNF IL10 IFNG CD8A CD4
16	Neuroinflammation and glutamatergic signaling ⁷⁴	11.99	TNF STAT1 IL10 IFNGR2 IFNGR1 IFNG
17	IL12-mediated signaling events ⁶¹ Show member pathways Immune response IL-12-induced IFN-gamma production ²²	11.97	CD4 CD8A IFNG IL12RB1 STAT1
18	TGF-beta receptor signaling in skeletal dysplasias ⁷⁴ Show member pathways TGF-beta receptor signaling ⁷⁴	11.91	TNF STAT1 IFNG
19	Interleukin-4 and Interleukin-13 signaling ⁶⁶	11.89	TNF STAT1 IL10
20	Allograft rejection ⁷⁴	11.89	TNF STAT1 IL10 IFNG
21	Th17 Differentiation ⁶⁵ Show member pathways IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types ⁶⁵	11.88	CD4 IFNG IL12RB1 STAT1
22	Interferon Pathway ⁶⁴	11.83	STAT1 IFNGR2 IFNGR1 IFNG IFNA1
23	Activation of NF-KappaB by PKR ⁶⁴ Show member pathways Canonical NF-kB pathway ⁷⁴ Cellular Transformation by HTLV1 ⁶⁴ Inhibition of PKR ⁶⁶ STING pathway in Kawasaki-like disease and COVID-19 ⁷⁴	11.82	TNF IFNGR2 IFNGR1 IFNG
24	Acute viral myocarditis ⁷⁴	11.77	STAT1 IL10 IFNG CD4
25	Th17 cell differentiation pathway ⁷⁴	11.72	STAT1 IFNGR1 IFNG CD4
26	Dendritic Cells Developmental Lineage Pathway ⁶⁵	11.72	TNF IL10 IFNG CD8A CD4
27	Extrafollicular B cell activation by SARS-CoV-2 ⁷⁴	11.7	TNF IL10 IFNG
28	Innate Lymphoid Cells Differentiation ⁶⁵	11.64	CD4 CD8A IFNG IL10 IL12RB1 TNF
29	SHP2 signaling ⁶¹	11.58	STAT1 IFNGR1 IFNG
30	Th2 Differentiation ⁶⁵	11.5	CD4 IFNG IL10
31	Non-genomic actions of 1,25 dihydroxyvitamin D3 ⁷⁴	11.43	TNF STAT1 IFNGR2 IFNGR1 IFNG
32	Type II interferon signaling ⁷⁴	11.42	STAT1 IFNGR2 IFNGR1 IFNG
33	Inflammatory bowel disease signaling ⁷⁴ Show member pathways Ulcerative colitis signaling ⁷⁴	11.4	TNF STAT1 IL12RB1 IL10 IFNGR1 IFNG
34	IL-15 Signaling and its Primary Biological Effects in Different Immune Cell Types ⁶⁵ Show member pathways IL-2 Signaling and its Primary Biological Effects in Different Immune Cell Types ⁶⁵	11.39	TNF IL10 IFNG
35	IFN-gamma pathway ⁶¹	11.32	STAT1 IFNGR1 IFNG
36	Cytokines and inflammatory response ⁷⁴	11.26	TNF IL10 IFNG CD4
37	Immune infiltration in pancreatic cancer ⁷⁴	11.25	TNF IL10 IFNG
38	IL27-mediated signaling events ⁶¹ Show member pathways IL12 signaling pathway ⁶⁷ Th1 Differentiation ⁶⁵	11.23	TNF STAT1 IL12RB1 IL10 IFNGR2 IFNGR1
39	Immune response to tuberculosis ⁷⁴	11.16	STAT1 IFNGR2 IFNGR1
40	THC Differentiation Pathway ⁶⁴	11.1	TNF IL12RB1 IL10 IFNGR2 IFNGR1 IFNG
41	Selective expression of chemokine receptors during T-cell polarization ⁷⁴	10.94	IL12RB1 IFNG CD4

Sources

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