MACS
MCID: MCS006
MIFTS: 52
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Macs Syndrome (MACS)
Categories:
Fetal diseases, Genetic diseases, Infectious diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Macs Syndrome:
Characteristics:Orphanet epidemiological data:59
rin2 syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Infectious diseases Anatomical: Skin diseases
ICD10:
34
External Ids:
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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.
MalaCards based summary : Macs Syndrome, also known as macrocephaly, alopecia, cutis laxa, and scoliosis, is related to lymphadenitis and lepromatous leprosy, 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 Th1 Differentiation Pathway and Jak-Stat Signaling Pathway (sino). Affiliated tissues include skin, bone and testis, and related phenotypes are high palate and scoliosis 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. Wikipedia : 76 Jean Baptiste Point du Sable (before 1750 ? 1818) is honored as the first permanent non-Native-American... more...
Description from OMIM:
613075
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:613075Human phenotypes related to Macs Syndrome:59 32 (show all 45)
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)
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Inferred drug relations via UMLS 73 / NDF-RT 51 :Cochrane evidence based reviews: mycobacterium avium-intracellulare infection |
MalaCards organs/tissues related to Macs Syndrome:41
Skin,
Bone,
Testis,
Bone Marrow,
Lung,
T Cells
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Articles related to Macs Syndrome:
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ClinVar genetic disease variations for Macs Syndrome:6
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Biological processes related to Macs Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Macs Syndrome according to GeneCards Suite gene sharing:
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