MCID: MCR037
MIFTS: 41

Macroglossia malady

Gastrointestinal diseases, Fetal diseases categories

Summaries for Macroglossia

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Sources:
63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 arthritis and cleft palate, 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 Lysine degradation and Focal Adhesion. The compounds pentosidine and txb2 have been mentioned in the context of this disorder. Affiliated tissues include tongue, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

Description from OMIM:46 153630

Aliases & Classifications for Macroglossia

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Sources:
42NIH Rare Diseases, 44Novoseek, 48Orphanet, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Gastrointestinal diseases


Aliases & Descriptions:

macroglossia 42 44
congenital macroglossia 42 48 46
enlarged tongue 42
giant tongue 42


External Ids:

OMIM46 153630
MESH via Orphanet35 C531735
ICD10 via Orphanet26 Q38.2
SNOMED-CT via Orphanet57 270516002
UMLS via Orphanet61 C0009677
ICD1025 Q38.2

Related Diseases for Macroglossia

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Macroglossia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 126)
idRelated DiseaseScoreTop Affiliating Genes
1arthritis29.9COL2A1, B2M
2cleft palate29.9COL2A1, COL11A2, COL11A1
3beckwith-wiedemann syndrome10.5
4amyloidosis10.5
5myeloma10.3
6hypoglycemia10.2
7muscular dystrophy10.2
8neonatal diabetes mellitus10.1
9diabetes mellitus10.1
10hypothyroidism10.1
11lymphangioma10.1
12multiple myeloma10.1
13hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia10.1
14neurofibromatosis10.1
15carpal tunnel syndrome10.1
16acromegaly10.1
17kleefstra syndrome10.1
18duchenne muscular dystrophy10.0
19down syndrome10.0
20angioedema10.0
21cervicitis10.0
22lipomatosis10.0
23myositis10.0
24proteinuria10.0
25purpura10.0
26cowden syndrome 110.0
27mannosidosis, alpha-, types i and ii10.0
28hypercalcemia10.0B2M
29capillary leak syndrome10.0C1S
30multiple epiphyseal dysplasia10.0COL9A1
31connective tissue disease10.0C1S
32cystic lymphangioma10.0
33blindness10.0COL2A1
34pseudoachondroplasia10.0COL9A1
35omphalocele10.0CDKN1C
36weissenbacher-zweymuller syndrome10.0COL11A2, COL2A1
37otospondylomegaepiphyseal dysplasia10.0COL11A2, COL2A1
38marshall syndrome10.0COL11A1
39chondrosarcoma10.0COL11A2
40vitreoretinal dystrophy10.0COL11A1
41myelodysplastic syndromes10.0CSF3, CDKN1C
42osteochondrodysplasia10.0COL2A1, COL11A2
43short stature10.0NSD1, COL2A1
44deficiency anemia10.0B2M, CSF3
45osteoarthritis10.0COL2A1, COL11A2, COL9A1
46vitreous syneresis10.0COL11A1, COL2A1
47retinal detachment10.0COL2A1, COL11A1
48sensorineural hearing loss10.0COL11A2, COL11A1
49acute kidney failure10.0C1S, B2M
50non-hodgkin lymphoma10.0C1S, B2M, CSF3

Graphical network of the top 20 diseases related to Macroglossia:



Diseases related to macroglossia

Clinical Features for Macroglossia

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

153630

Clinical synopsis from OMIM:

153630

Symptoms:

48
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • autosomal dominant inheritance

Drugs & Therapeutics for Macroglossia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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:
32MalaCards
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MalaCards organs/tissues related to Macroglossia:

32
Tongue

Animal Models for Macroglossia or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Macroglossia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.8COL11A1, COL2A1, COL9A1
2MP:00053718.5COL9A1, COL2A1, COL11A1, CDKN1C
3MP:00053908.0CDKN1C, COL11A1, COL9A1, COL11A2, COL2A1
4MP:00053877.3CDKN1C, COL2A1, COL11A1, COL9A1, CSF3, B2M

Publications for Macroglossia

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Genetic Variations for Macroglossia

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Expression for genes affiliated with Macroglossia

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Macroglossia

Search GEO for disease gene expression data for Macroglossia.

Pathways for genes affiliated with Macroglossia

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Sources:
29KEGG, 37NCBI BioSystems Database, 53Reactome, 51QIAGEN
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Compounds for genes affiliated with Macroglossia

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Sources:
44Novoseek, 11DrugBank, 49PharmGKB, 28IUPHAR, 24HMDB, 2BitterDB
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Compounds related to Macroglossia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1pentosidine449.9COL2A1, B2M
2txb2449.8B2M, C1S
3mesna449.8B2M, CSF3
4gemtuzumab ozogamicin44 1110.8CSF3, C1S
52-chlorodeoxyadenosine449.6B2M, CSF3
6rituximab44 49 1111.5B2M, CSF3, C1S
7ifosfamide44 1110.5CSF3, B2M
8l-lysine28 11 2411.4EHMT1, NSD1
9methimazole44 2 1111.3B2M, CSF3
10cycloheximide449.0COL2A1, CSF3, B2M, CDKN1C

GO Terms for genes affiliated with Macroglossia

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Sources:
16Gene Ontology
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Cellular components related to Macroglossia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type XIGO:0055929.0COL11A1, COL11A2
2endoplasmic reticulum lumenGO:0057888.0COL11A1, COL2A1, COL11A2, COL9A1, B2M
3extracellular regionGO:0055767.7C1S, COL11A1, COL2A1, COL11A2, COL9A1, B2M

Biological processes related to Macroglossia according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1tissue homeostasisGO:0018949.3COL9A1, COL2A1
2proteoglycan metabolic processGO:0060299.3COL2A1, COL11A1
3cartilage condensationGO:0015029.2COL2A1, COL11A1
4histone methylationGO:0165719.2EHMT1, NSD1
5collagen fibril organizationGO:0301999.0COL11A2, COL2A1, COL11A1
6sensory perception of soundGO:0076058.9COL11A1, COL2A1, COL11A2
7collagen catabolic processGO:0305748.6COL9A1, COL11A2, COL2A1, COL11A1
8extracellular matrix disassemblyGO:0226178.6COL11A1, COL2A1, COL11A2, COL9A1
9extracellular matrix organizationGO:0301988.5COL11A1, COL2A1, COL11A2, COL9A1

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
  • Antibodies

Sources for Macroglossia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet