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MCID: MCR037
MIFTS: 49

Macroglossia malady

Gastrointestinal, Fetal categories
2 symptoms, 10 genes, 5 tissues, 124 related diseases, clinical trials.

Summaries for Macroglossia

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Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 omphalocele and arthritis, 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 cortex, heart and tongue, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

Description from OMIM:47 153630

Aliases & Classifications for Macroglossia

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Sources:
43NIH Rare Diseases, 45Novoseek, 49Orphanet, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Gastrointestinal
ICD10: 26 25


Aliases & Descriptions:

macroglossia 43 45
congenital macroglossia 43 49 47
enlarged tongue 43
giant tongue 43


External Ids:

OMIM47 153630
MESH via Orphanet36 C531735
ICD10 via Orphanet26 Q38.2
SNOMED-CT via Orphanet58 270516002
UMLS via Orphanet62 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 124)
idRelated DiseaseScoreTop Affiliating Genes
1omphalocele30.1CDKN1C
2arthritis30.0COL2A1, B2M
3cleft palate30.0COL2A1, COL11A2, COL11A1
4beckwith-wiedemann syndrome10.6
5amyloidosis10.6
6gigantism10.4
7hypoglycemia10.2
8neonatal diabetes mellitus10.2
9n syndrome10.2
10transient neonatal diabetes mellitus10.2
11hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia10.2
12neurofibromatosis10.1
13carpal tunnel syndrome10.1
14acromegaly10.1
15down syndrome10.1
16kleefstra syndrome10.1
17duchenne muscular dystrophy10.0
18angioedema10.0
19jones syndrome10.0
20prognathism mandibular10.0
21sleep apnea10.0
22amyloidosis, secondary10.0
23cowden syndrome 110.0
24mannosidosis, alpha-, types i and ii10.0
25hypercalcemia10.0B2M
26capillary leak syndrome10.0C1S
27multiple epiphyseal dysplasia10.0COL9A1
28connective tissue disease10.0C1S
29blindness10.0COL2A1
30pseudoachondroplasia10.0COL9A1
31weissenbacher-zweymuller syndrome10.0COL11A2, COL2A1
32otospondylomegaepiphyseal dysplasia10.0COL11A2, COL2A1
33marshall syndrome10.0COL11A1
34chondrosarcoma10.0COL11A2
35vitreoretinal dystrophy10.0COL11A1
36myelodysplastic syndromes10.0CSF3, CDKN1C
37osteochondrodysplasia10.0COL2A1, COL11A2
38short stature10.0NSD1, COL2A1
39deficiency anemia10.0B2M, CSF3
40osteoarthritis10.0COL2A1, COL11A2, COL9A1
41vitreous syneresis10.0COL11A1, COL2A1
42retinal detachment10.0COL2A1, COL11A1
43sensorineural hearing loss10.0COL11A2, COL11A1
44acute kidney failure10.0C1S, B2M
45non-hodgkin lymphoma10.0C1S, B2M, CSF3
46rheumatoid arthritis10.0B2M, COL2A1, C1S
47myopia 610.0COL11A2, COL2A1, COL11A1
48burkitt's lymphoma10.0CDKN1C, C1S, CSF3, B2M
49stickler syndrome10.0COL2A1, COL11A2, COL9A1, COL11A1
50stroke, ischemic9.9

Graphical network of the top 20 diseases related to Macroglossia:



Diseases related to macroglossia

Clinical Features for Macroglossia

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Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

153630

Clinical synopsis from OMIM:

153630

Symptoms:

49
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • autosomal dominant inheritance

Drugs & Therapeutics for Macroglossia

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Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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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33MalaCards
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MalaCards organs/tissues related to Macroglossia:

33
Cortex, Heart, Tongue, Trachea, Adrenal cortex

Animal Models for Macroglossia or affiliated genes

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Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Macroglossia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1
hearing/vestibular/ear phenotype
MP:00053778.8COL11A1, COL2A1, COL9A1
2
limbs/digits/tail phenotype
MP:00053718.5COL9A1, COL2A1, COL11A1, CDKN1C
3
skeleton phenotype
MP:00053908.0CDKN1C, COL11A1, COL9A1, COL11A2, COL2A1
4
immune system phenotype
MP:00053877.3CDKN1C, COL2A1, COL11A1, COL9A1, CSF3, B2M

Publications for Macroglossia

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Sources:
51PubMed
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Articles related to Macroglossia:

(show top 50)    (show all 245)
idTitleAuthorsYear
1
Congenital macroglossia treated by 2-stage partial glossectomy. (23524740)
2013
2
Macroglossia in amyotrophic lateral sclerosis. (24042440)
2013
3
Methylprednisolone sodium succinate-associated macroglossia in a critically ill patient. (23386601)
2013
4
Phenytoin induced life threatening macroglossia in a child. (23546362)
2013
5
Surgical management of obstructive sleep apnea in acromegaly with mandibular prognathism and macroglossia: a treatment dilemma. (21824705)
2012
6
Genetic causes of macroglossia: diagnostic approach. (22250026)
2012
7
Acute macroglossia in the pediatric patient: worth a look. (21975495)
2011
8
Unilateral macroglossia as sole presenting manifestation of internal carotid artery dissection. (21938704)
2011
9
Focal myositis of the tongue presenting as macroglossia. (20055851)
2009
10
Overview of macroglossia and its treatment. (19713845)
2009
11
Rational management of macroglossia due to acquired systemic amyloidosis: does surgery play a role? (19686942)
2009
12
Management of lymphatic malformations and macroglossia: results of a national treatment survey. (19515431)
2009
13
A modified keyhole technique for correction of macroglossia. (19050540)
2008
14
Treatment of macroglossia in a child with Weaver syndrome. (18595662)
2008
15
Relative rather than absolute macroglossia in patients with Down syndrome: implications for treatment of obstructive sleep apnea. (18685841)
2008
16
Orthognathic surgery in a case of infantile facioscapulohumeral muscular dystrophy with macroglossia. (18682994)
2008
17
Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities. (17143888)
2007
18
Acute exacerbation of macroglossia leading to necrosis of the anterior third of the tongue. (16876088)
2006
19
Macroglossia due to venous malformation. (23120366)
2006
20
Exuberant macroglossia in a patient with primary systemic amyloidosis. (15971439)
2005
21
Macroglossia as a manifestation of post-kala-azar dermal leishmaniasis: a case report. (15689211)
2005
22
Acute exacerbation of macroglossia. (16086997)
2005
23
A case of systemic amyloidosis associated with multiple myeloma presented as macroglossia and purpura. (15096165)
2004
24
Macroglossia combined with lymphangioma: a case report. (12597690)
2003
25
Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency. (12031620)
2002
26
Radiofrequency ablation of lymphangiomatous macroglossia. (11801958)
2001
27
Treatment of macroglossia in a child with Beckwith-Wiedemann syndrome. (10981990)
2000
28
Postoperative macroglossia: report of a case with rapid resolution after extubation of the trachea. (9895096)
1999
29
Autosomal dominant macroglossia: an addendum to the etiological classification. (7705227)
1995
30
Symmetrical lipomatosis of the tongue presenting as macroglossia. Report of two cases. (8263215)
1993
31
Macroglossia and amyloidoma of the buttock: evidence of systemic involvement in dialysis amyloid. (2196475)
1990
32
Postoperative macroglossia causing airway obstruction. (4030241)
1985
33
The Beckwith-Wiedemann syndrome: a longitudinal study of the macroglossia and dentofacial complex. (3877094)
1985
34
Beckwith-Wiedemann (exomphalos-macroglossia-gigantism--EMG) syndrome and malignant lymphoma. (6274639)
1981
35
The exomphalos, macroglossia, gigantism (E.M.G.) syndrome: a case report and review of the literature. (650125)
1978
36
Lymphangiomatous macroglossia. (1053377)
1976
37
Exomphalos-macroglossia-gigantism, or EMG syndrome (Beckwith-Wiedemann syndrome). (819872)
1976
38
Familial macroglossia-omphalocele syndrome. (1022851)
1976
39
Macroglossia--a positional complication. (4812721)
1974
40
Amyloidosis: report of a case presenting with macroglossia. (4726108)
1973
41
Immunodeficiency associated with exomphalos-macroglossia-gigantism syndrome. (4540610)
1973
42
Beckwith-Wiedemann syndrome (exomphalos-macroglossia-gigantism: EMG syndrome). (5173230)
1971
43
Anaesthetic problems in a case of pseudo-hypertrophic muscular dystrophy presenting with macroglossia. (4242170)
1969
44
Para-amyloidosis, macroglossia and carpal-tunnel syndrome with myeloma. (5669508)
1968
45
Early management in extensive cervical cystic hygroma and macroglossia. (14432102)
1960
46
Macroglossia or giant tongue; case report. (13311674)
1956
47
Angular cheilosis and macroglossia; report of a case. (13224194)
1955
48
Macroglossia as a manifestation of primary systemic amyloidosis; report of a case. (14917573)
1952
49
Congenital macroglossia; report of two cases. (18872847)
1948
50
A Case of Macroglossia neurofibromatosa. (19973315)
1908

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:
30KEGG, 38NCBI BioSystems Database, 54Reactome, 52QIAGEN
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Pathways related to Macroglossia according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Lysine degradation30
9.3NSD1, EHMT1
2
Focal Adhesion38
Hide members
8.9COL11A1, COL2A1, COL11A2
3
Amoebiasis30
8.9COL11A2, COL2A1, COL11A1
4
Protein digestion and absorption30
8.4COL9A1, COL11A1, COL2A1, COL11A2
5
Degradation of the extracellular matrix54
Hide members
8.4COL9A1, COL11A2, COL2A1, COL11A1
6
Integrin Pathway52
Hide members
8.4COL11A1, COL9A1, COL11A2, COL2A1
7
PTEN Pathway52
Hide members
8.4COL11A1, COL11A2, COL9A1, COL2A1
8
Non-integrin membrane-ECM interactions54
Hide members
8.4COL11A1, COL2A1, COL11A2, COL9A1
9
Collagen biosynthesis and modifying enzymes54
Hide members
8.4COL9A1, COL2A1, COL11A1, COL11A2
10
PI3K-Akt signaling pathway30
8.3COL11A1, COL2A1, COL11A2, CSF3
11
Rho Family GTPases52
Hide members
7.9COL11A1, COL2A1, COL11A2, COL9A1, CSF3

Compounds for genes affiliated with Macroglossia

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Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 29IUPHAR, 24HMDB, 2BitterDB
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Compounds related to Macroglossia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1pentosidine459.9COL2A1, B2M
2txb2459.8B2M, C1S
3mesna459.8B2M, CSF3
4gemtuzumab ozogamicin45 1110.8C1S, CSF3
52-chlorodeoxyadenosine459.6CSF3, B2M
6rituximab45 50 1111.5B2M, CSF3, C1S
7ifosfamide45 1110.5CSF3, B2M
8l-lysine29 11 2411.4EHMT1, NSD1
9methimazole45 2 1111.3CSF3, B2M
10cycloheximide459.0COL2A1, CSF3, B2M, CDKN1C

GO Terms for genes affiliated with Macroglossia

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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:0018949.3COL2A1, COL9A1
2proteoglycan metabolic processGO:0060299.3COL11A1, COL2A1
3cartilage condensationGO:0015029.2COL11A1, COL2A1
4histone methylationGO:0165719.2NSD1, EHMT1
5collagen fibril organizationGO:0301999.0COL11A1, COL2A1, COL11A2
6sensory perception of soundGO:0076058.9COL11A1, COL11A2, COL2A1
7collagen catabolic processGO:0305748.6COL11A1, COL2A1, COL11A2, COL9A1
8extracellular matrix disassemblyGO:0226178.6COL11A1, COL2A1, COL11A2, COL9A1
9extracellular matrix organizationGO:0301988.5COL2A1, COL11A1, COL9A1, COL11A2

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet
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