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MCID: MCS006
MIFTS: 44

Macs Syndrome

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Infectious diseases
Genes Variations Tissues Related diseases Publications 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 59 75 40
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 57 37 29 13 6 73
Mycobacterium Avium-Intracellulare Infection 53 44 73
Tall Forehead, Sparse Hair, Skin Hyperextensibility, and Scoliosis 57 75
Mycobacterium Avium Complex Disease 12 15
Mycobacterium Avium Infection 12 73
Mycobacterium Avium Complex 12 53
Mac 76 3
Tall Forehead-Sparse Hair-Skin Hyperextensibility-Scoliosis Syndrome 59
Macrocephaly Alopecia Cutis Laxa and Scoliosis Syndrome 75
Macrocephaly-Alopecia-Cutis Laxa-Scoliosis Syndrome 59
Infection Due to Mycobacterium Intracellulare 12
Mycobacterium Avium-Intracellulare 53
Mycobacterium Avium 53
Rin2 Deficiency 59
Rin2 Syndrome 59
Mac Disease 12
Macs 75
Mai 53

Characteristics:

Orphanet epidemiological data:

59
rin2 syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
macs syndrome:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Infectious diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare skin diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Macs Syndrome

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NIH Rare Diseases : 53 Mycobacterium avium complex (MAC) refers to infections caused by two types of bacteria: Mycobacterium avium and Mycobacterium intracellulare. MAC primarily affects people with compromised immune systems (for example from AIDS, hairy cell leukemia, or immunosuppressive chemotherapy) or underlying lung disease. Symptoms can be non-specific and may include fever, sweats, weight loss, abdominal pain, fatigue, chronic diarrhea, and anemia. It may cause local disease affecting the central nervous system, lymph nodes, soft tissue, or bones; or, it may cause multi-system disease also affecting other organs and systems. MAC is spread when the bacteria, found in water, soil and dust particles, are inhaled or ingested. Treatment for MAC varies depending on the type and may include antibiotics, antituberculosis drugs, and/or surgery.

MalaCards based summary : Macs Syndrome, also known as macrocephaly, alopecia, cutis laxa, and scoliosis, is related to cutis laxa and disseminated infection with mycobacterium avium complex, and has symptoms including swelling of eyelid An important gene associated with Macs Syndrome is RIN2 (Ras And Rab Interactor 2). Affiliated tissues include skin, lung and bone, and related phenotypes are high palate and scoliosis

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.

CDC : 3 Mycobacterium abscessus [mī–kō–bak–tair–ee–yum ab–ses–sus] (also called M. abscessus) is a bacterium distantly related to the ones that cause tuberculosis and Hansen’s Disease (Leprosy). It is part of a group of environmental mycobacteria and is found in water, soil, and dust. It has been known to contaminate medications and products, including medical devices.

UniProtKB/Swiss-Prot : 75 MACS syndrome: A complex disorder of elastic tissue characterized by sagging skin and occasionally by life-threatening visceral complications.

Description from OMIM: 613075
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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 116)
# Related Disease Score Top Affiliating Genes
1 cutis laxa 29.9 FBLN5 RIN2
2 disseminated infection with mycobacterium avium complex 12.3
3 may-thurner syndrome 12.3
4 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 11.9
5 myh9 related thrombocytopenia 11.3
6 androgen insensitivity syndrome, mild 11.2
7 microphthalmia 11.2
8 immunodeficiency 31a 11.2
9 hypocomplementemic urticarial vasculitis 11.2
10 macdermot-winter syndrome 10.9
11 colobomatous microphthalmia 10.9
12 prostate cancer 10.8
13 herpes zoster 10.8
14 crohn's disease 10.8
15 alzheimer disease 10.8
16 attention deficit-hyperactivity disorder 10.7
17 encephalitis 10.7
18 myocardial infarction 10.7
19 gastric cancer 10.7
20 breast cancer 10.7
21 lupus erythematosus 10.7
22 schizophrenia 10.7
23 dermatomyositis 10.7
24 multiple sclerosis 10.7
25 syringomyelia 10.7
26 epilepsy 10.7
27 premature ovarian failure 1 10.7
28 parkinson disease, late-onset 10.7
29 dermatitis 10.7
30 myeloma, multiple 10.7
31 myasthenia gravis 10.7
32 pancreatitis 10.7
33 graves' disease 10.7
34 dementia 10.7
35 vaginitis 10.7
36 chronic fatigue syndrome 10.7
37 leukemia, acute lymphoblastic 10.7
38 gastrointestinal stromal tumor 10.7
39 complex regional pain syndrome 10.7
40 esophagitis, eosinophilic, 1 10.7
41 leukemia, chronic lymphocytic 10.7
42 rheumatoid arthritis 10.7
43 autism spectrum disorder 10.7
44 hepatitis 10.7
45 spondyloarthropathy 1 10.7
46 pertussis 10.7
47 dyspepsia 10.7
48 ovarian cancer 10.7
49 cervical cancer 10.7
50 lyme disease 10.7

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



Diseases related to Macs Syndrome
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Symptoms & Phenotypes for Macs Syndrome

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Symptoms via clinical synopsis from OMIM:

57
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)

GenitourinaryInternal GenitaliaMale:
undescended testis (rare)

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

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


Clinical features from OMIM:

613075

Human phenotypes related to Macs Syndrome:

59 32 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 59 32 occasional (7.5%) Very frequent (99-80%) HP:0000218
2 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
3 gingival overgrowth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000212
4 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
5 umbilical hernia 59 32 occasional (7.5%) Frequent (79-30%) HP:0001537
6 pes planus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001763
7 cognitive impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100543
8 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
9 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
10 premature ovarian insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0008209
11 hypergonadotropic hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000815
12 joint hypermobility 59 32 hallmark (90%) Very frequent (99-80%) HP:0001382
13 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
14 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
15 sparse scalp hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002209
16 bruising susceptibility 59 32 frequent (33%) Frequent (79-30%) HP:0000978
17 redundant skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001582
18 high pitched voice 59 32 frequent (33%) Frequent (79-30%) HP:0001620
19 hyperextensible skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000974
20 abnormality of the sternum 59 32 frequent (33%) Frequent (79-30%) HP:0000766
21 increased susceptibility to fractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002659
22 hirsutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0001007
23 upper eyelid edema 59 32 hallmark (90%) Very frequent (99-80%) HP:0012724
24 infra-orbital fold 59 32 hallmark (90%) Very frequent (99-80%) HP:0011232
25 irregular dentition 59 32 hallmark (90%) Very frequent (99-80%) HP:0040079
26 muscular hypotonia 32 HP:0001252
27 short stature 32 HP:0004322
28 ichthyosis 32 occasional (7.5%) HP:0008064
29 osteoporosis 32 occasional (7.5%) HP:0000939
30 thick lower lip vermilion 32 HP:0000179
31 alopecia 32 HP:0001596
32 aortic dilatation 59 Occasional (29-5%)
33 palpebral edema 32 HP:0100540
34 prolonged bleeding time 32 HP:0003010
35 urethral stenosis 32 occasional (7.5%) HP:0008661
36 decreased body weight 32 HP:0004325
37 sparse hair 32 HP:0008070
38 bronchiectasis 32 occasional (7.5%) HP:0002110
39 single transverse palmar crease 32 occasional (7.5%) HP:0000954
40 abnormality of the lip 59 Very frequent (99-80%)
41 severe myopia 59 Occasional (29-5%)
42 eclabion 32 HP:0012472
43 aortic aneurysm 32 occasional (7.5%) HP:0004942
44 cutis laxa 32 HP:0000973
45 high myopia 32 occasional (7.5%) HP:0011003
46 sparse and thin eyebrow 32 HP:0000535

UMLS symptoms related to Macs Syndrome:


swelling of eyelid

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

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.53 IFNGR1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.53 IFNGR1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.53 IFNGR1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.53 RIN2 IFNGR1 IL12RB1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.53 IL12RB1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.53 IL12RB1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.53 RIN2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.53 RIN2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.53 IFNGR1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.53 IFNGR1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.53 IL12RB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.53 IFNGR1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.53 RIN2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.53 RIN2
Sources

Drugs & Therapeutics for Macs Syndrome

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Search Clinical Trials , NIH Clinical Center for Macs Syndrome

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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:

41
Skin, Lung, Bone, Lymph Node, Testis
Sources

Publications for Macs Syndrome

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Articles related to Macs Syndrome:

# Title Authors Year
1
Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2. ( 24449201 )
2014
2
MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking. ( 20954239 )
2010
3
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. ( 19631308 )
2009
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Variations for Macs Syndrome

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ClinVar genetic disease variations for Macs Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RIN2 NM_018993.3(RIN2): c.1731delC (p.Ile578Serfs) deletion Pathogenic rs869320663 GRCh37 Chromosome 20, 19956400: 19956400
2 RIN2 NM_018993.3(RIN2): c.1731delC (p.Ile578Serfs) deletion Pathogenic rs869320663 GRCh38 Chromosome 20, 19975756: 19975756
3 RIN2 NM_018993.3(RIN2): c.1914_1915delGC (p.Glu638Aspfs) deletion Pathogenic rs587776915 GRCh37 Chromosome 20, 19970801: 19970802
4 RIN2 NM_018993.3(RIN2): c.1914_1915delGC (p.Glu638Aspfs) deletion Pathogenic rs587776915 GRCh38 Chromosome 20, 19990157: 19990158
5 RIN2 NM_018993.3(RIN2): c.1731dupC (p.Ile578Hisfs) duplication Pathogenic rs759390822 GRCh38 Chromosome 20, 19975756: 19975756
6 RIN2 NM_018993.3(RIN2): c.1731dupC (p.Ile578Hisfs) duplication Pathogenic rs759390822 GRCh37 Chromosome 20, 19956400: 19956400
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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GO Terms for Macs Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.33 IFNGR1 IL12RB1 IL31RA
2 positive regulation of interferon-gamma production GO:0032729 8.96 IL12RB1 SLC11A1
3 positive regulation of T-helper 1 type immune response GO:0002827 8.62 IL12RB1 SLC11A1

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

# Name GO ID Score Top Affiliating Genes
1 cytokine binding GO:0019955 8.96 IFNGR1 IL31RA
2 cytokine receptor activity GO:0004896 8.8 IFNGR1 IL12RB1 IL31RA
Sources

Sources for Macs Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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