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MCID: MCR037

Macroglossia malady
2 symptoms, 10 genes, 1 tissue, 85 related diseases, clinical trials.

Summaries for Macroglossia

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Sources:
59Wikipedia, 43OMIM, 29MalaCards
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Wikipedia:59 Macroglossia is the medical term for an unusually large tongue. Severe enlargement of the tongue can... more...

MalaCards: Macroglossia, also known as congenital macroglossia, is related to pseudoachondroplasia and capillary leak syndrome, and has symptoms including macroglossia/tongue protrusion/proeminent/hypertrophicand autosomal dominant inheritance. An important gene associated with Macroglossia is CDKN1C (cyclin-dependent kinase inhibitor 1C (p57, Kip2)), and among its related pathways are ECM-receptor interaction and Amoebiasis. The compounds pentosidine and mesna have been mentioned in the context of this disorder. Affiliated tissues include tongue and tongue, and related mouse phenotypes are limbs/digits/tail and hearing/vestibular/ear.

OMIM:

Aliases & Classifications for Macroglossia

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Sources:
39NIH Rare Diseases, 41Novoseek, 45Orphanet, 43OMIM, 32MESH via Orphanet, 24ICD10 via Orphanet, 53SNOMED-CT via Orphanet, 57UMLS via Orphanet, 23ICD10
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Aliases & Descriptions:

macroglossia 39 41
congenital macroglossia 39 45 43
enlarged tongue 39
giant tongue 39

Classifications:


ICD10: 24 23


External Ids:

MESH via Orphanet32 C531735
ICD10 via Orphanet24 Q38.2
SNOMED-CT via Orphanet53 270516002
UMLS via Orphanet57 C0009677
ICD1023 Q38.2

Related Diseases for Macroglossia

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Sources:
16GeneCards, 17GeneDecks
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Diseases related to macroglossia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 85)
idRelated DiseaseScoreTop Affiliating Genes
1pseudoachondroplasia27.2COL9A1
2capillary leak syndrome13.4C1S
3hypercalcemia13.4B2M
4multiple epiphyseal dysplasia13.4COL9A1
5osteoporosis13.3COL2A1
6marshall syndrome13.2COL11A1
7blindness13.2COL2A1
8vitreoretinal dystrophy13.2COL11A1
9chondrosarcoma13.1COL11A2
10weissenbacher-zweymuller syndrome13.0COL2A1, COL11A2
11otospondylomegaepiphyseal dysplasia13.0COL2A1, COL11A2
12osteochondrodysplasia12.9COL11A2, COL2A1
13anemia12.9CSF3, B2M
14vitreous syneresis12.8COL2A1, COL11A1
15retinal detachment12.8COL2A1, COL11A1
16sensorineural hearing loss12.7COL11A2, COL11A1
17short stature12.7COL2A1, NSD1
18osteoarthritis12.6COL2A1, COL11A2, COL9A1
19acute kidney tubular necrosis12.5C1S, B2M
20myopia 612.4COL11A1, COL2A1, COL11A2
21non-hodgkin lymphoma12.4CSF3, B2M, C1S
22boomerang dysplasia12.4CDKN1C, COL11A2, COL2A1
23cleft palate12.3COL11A1, COL2A1, COL11A2
24rheumatoid arthritis12.3B2M, C1S, COL2A1
25burkitt's lymphoma12.1CSF3, B2M, C1S, CDKN1C
26stickler syndrome12.0COL11A1, COL2A1, COL11A2, COL9A1
27beckwith-wiedemann syndrome7.5
28hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia6.7
29cowden disease5.8
30kleefstra syndrome5.8
31angelman syndrome4.9
32williams-beuren syndrome4.9
33mucopolysaccharidosis vi4.9
34congenital hypothyroidism4.9
35mucopolysaccharidosis ii4.9
36melkersson-rosenthal syndrome4.9
37costello syndrome4.9
38aspartylglucosaminuria4.9
39glycogen storage disease ii4.9
40goldenhar syndrome4.9
41leukocyte adhesion deficiency4.9
42acromegaly4.9
43lipoid proteinosis4.9
44purpura4.9
45immunodeficiency, centromere instability and facial anomalies syndrome4.9
46smith magenis syndrome4.9
47simpson-golabi-behmel syndrome type 14.9
48acromegaloid facial appearance syndrome4.9
49bazopoulou-kyrkanidou syndrome4.9
50cerebro-costo-mandibular syndrome4.9

Graphical network of the top 20 diseases related to macroglossia:



Diseases related to macroglossia

Symptoms for Macroglossia

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Sources:
43OMIM, 45Orphanet
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Clinical features from OMIM:



Symptoms:

45
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • autosomal dominant inheritance

Drugs & Therapeutics for Macroglossia

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Sources:
5CenterWatch, 38NIH Clinical Center, 6ClinicalTrials, 56UMLS, 37NDF-RT
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Approved drugs:

Search CenterWatch for macroglossia

Drug clinical trials:

Search ClinicalTrials for macroglossia

Search NIH Clinical Center for macroglossia

Search CenterWatch for macroglossia

Genetic Tests for Macroglossia

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Anatomical Context for Macroglossia

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Sources:
29MalaCards
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MalaCards organs/tissues related to macroglossia:

29
Tongue

Animal Models for Macroglossia or affiliated genes

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Sources:
33MGI, 26inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to macroglossia:

33
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1
limbs/digits/tail phenotype
MP:00053718.7CDKN1C, COL9A1, COL2A1, COL11A1
2
hearing/vestibular/ear phenotype
MP:00053778.5COL9A1, COL11A2, COL2A1, COL11A1
3
skeleton phenotype
MP:00053908.0COL11A1, COL2A1, COL11A2, COL9A1, CDKN1C

Publications for Macroglossia

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Sources:
47PubMed
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Articles related to macroglossia:

idTitleAuthorsYearAffiliating Genes
1Nodular macroglossia with combined light chain and beta-2 microglobulin deposition in a long-term dialysis patient. (11411015)Bandini S.... Salvadori M.2001B2M
2Improvement of amyloid-related symptoms after autolog ous stem cell transplantation in a patient with hepatomegaly, macroglossia and purpura. (10467336)Patriarca F.... Baccarani M.1999CSF3
3Macroglossia and amyloidoma of the buttock: evidence of systemic involvement in dialysis amyloid. (2196475)Sethi D.... Gower P.E.1990B2M

Variations for Macroglossia

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Expression for genes affiliated with Macroglossia

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Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Macroglossia

Pathways for genes affiliated with Macroglossia

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27KEGG, 50Reactome, 48QIAGEN
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Pathways related to macroglossia according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
ECM-receptor interaction27
Hide members
9.1COL11A1, COL2A1, COL11A2
2
Amoebiasis27
9.1COL11A2, COL2A1, COL11A1
3
Formation of collagen fibres50
Hide members
9.1COL11A2, COL2A1, COL11A1
4
Gelatin degradation by MMP1950
Hide members
9.1COL11A2, COL2A1, COL11A1
5
Integrin Pathway48
Hide members
8.6COL9A1, COL11A2, COL2A1, COL11A1
6
Blood Coagulation Cascade48
Hide members
8.6COL9A1, COL11A2, COL2A1, COL11A1
7
PTEN Pathway48
Hide members
8.6COL11A1, COL2A1, COL11A2, COL9A1
8
Collagen formation50
Hide members
8.6COL11A1, COL2A1, COL11A2, COL9A1
9
Protein digestion and absorption27
8.6COL11A1, COL2A1, COL11A2, COL9A1
10
Degradation of the extracellular matrix50
Hide members
8.6COL11A1, COL2A1, COL11A2, COL9A1
11
Rho Family GTPases48
Hide members
8.1CSF3, COL11A1, COL2A1, COL11A2, COL9A1

Compounds for genes affiliated with Macroglossia

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41Novoseek, 11DrugBank, 46PharmGKB, 22HMDB
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Compounds related to macroglossia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1pentosidine419.8B2M, COL2A1
2mesna419.8B2M, CSF3
3gemtuzumab ozogamicin41 1110.7C1S, CSF3
4ifosfamide41 1110.6B2M, CSF3
5rituximab41 46 1111.5C1S, B2M, CSF3
62-chlorodeoxyadenosine419.3B2M, CSF3
7L-Lysine11 2210.0EHMT1, NSD1
8cycloheximide418.9CSF3, B2M, COL2A1, CDKN1C

GO Terms for genes affiliated with Macroglossia

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15Gene Ontology
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Cellular components related to macroglossia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type XIGO:0055929.2COL11A1, COL11A2
2endoplasmic reticulum lumenGO:0057888.2COL9A1, COL11A2, COL2A1, COL11A1, B2M
3extracellular regionGO:0055767.9COL9A1, COL11A2, COL2A1, COL11A1, C1S, B2M

Biological processes related to macroglossia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:0060299.5COL2A1, COL11A1
2cartilage condensationGO:0015029.4COL2A1, COL11A1
3tissue homeostasisGO:0018949.3COL9A1, COL2A1
4collagen fibril organizationGO:0301999.2COL11A1, COL2A1, COL11A2
5sensory perception of soundGO:0076059.1COL11A1, COL2A1, COL11A2
6histone methylationGO:0165719.0EHMT1, NSD1
7extracellular matrix organizationGO:0301988.8COL9A1, COL11A2, COL2A1, COL11A1

Molecular functions related to macroglossia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituent conferring tensile strengthGO:0300209.2COL9A1, COL11A2, COL2A1

Products for genes affiliated with Macroglossia

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  • Antibodies
  • Proteins
  • Lysates

Sources for Macroglossia

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3CDC
13ExPASy
14FMA
21HGMD
22HMDB
23ICD10
24ICD10 via Orphanet
25ICD9CM
27KEGG
31MeSH
32MESH via Orphanet
33MGI
36NCIt
37NDF-RT
40NINDS
41Novoseek
43OMIM
44OMIM via Orphanet
47PubMed
48QIAGEN
53SNOMED-CT via Orphanet
56UMLS
57UMLS via Orphanet
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