MCID: MCR037
MIFTS: 44

Macroglossia malady

Rare diseases, Gastrointestinal diseases, Fetal diseases categories

Aliases & Classifications for Macroglossia

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Sources:
45NIH Rare Diseases, 47Novoseek, 51Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10
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Aliases & Descriptions for Macroglossia:

Name: Macroglossia 45 47
Congenital Macroglossia 45 51
 
Enlarged Tongue 45
Giant Tongue 45


Classifications:



External Ids:

Orphanet51 2430
ICD10 via Orphanet28 Q38.2
MESH via Orphanet37 C531735
UMLS via Orphanet66 C0009677
ICD1027 Q38.2

Summaries for Macroglossia

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NIH Rare Diseases:45 Macroglossia is the abnormal enlargement of the tongue in proportion to other structures in the mouth. it usually occurs secondary to an underlying disorder that may be present from birth (congenital) or acquired. in rare cases, it is an isolated, congenital feature. symptoms associated with macroglossia may include drooling; speech impairment; difficulty eating; stridor; snoring; airway obstruction; abnormal growth of the jaw and teeth; ulceration; and/or dying tissue on the tip of the tongue. the tongue may protrude from the mouth. inherited or congenital disorders associated with macroglossia include down syndrome, beckwith-wiedemann syndrome, primary amyloidosis, and congenital hypothyroidism. acquired causes may include trauma, cancer, endocrine disorders, and inflammatory or infectious diseases. isolated, congenital macroglossia can be genetic, inherited in an autosomal dominant manner. treatment depends upon the underlying cause and severity and may range from speech therapy in mild cases, to surgical reduction in more severe cases. last updated: 9/16/2015

MalaCards based summary: Macroglossia, also known as congenital macroglossia, is related to weaver syndrome and beckwith-wiedemann syndrome, and has symptoms including abnormality of the tongue, autosomal dominant inheritance and macroglossia. An important gene associated with Macroglossia is CDKN1C (Cyclin-Dependent Kinase Inhibitor 1C (P57, Kip2)), and among its related pathways are Platelet activation and Amoebiasis. Affiliated tissues include tongue, cortex and trachea, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Wikipedia:68 Macroglossia is the medical term for an unusually large tongue. Severe enlargement of the tongue can... more...

Related Diseases for Macroglossia

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Diseases related to Macroglossia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 160)
idRelated DiseaseScoreTop Affiliating Genes
1weaver syndrome30.0COL11A1, NSD1
2beckwith-wiedemann syndrome10.6
3amyloidosis10.6
4gigantism10.4
5myeloma10.4
6hypoglycemia10.3
7muscular dystrophy10.3
8weissenbacher-zweymuller syndrome10.2COL11A2, COL2A1
9kleefstra syndrome10.2
10multiple myeloma10.2
11hypothyroidism10.2
12lymphangioma10.2
13neonatal diabetes mellitus10.2
14marshall syndrome10.2COL11A1, COL2A1
15lutembacher's syndrome10.2COL11A1, COL2A1
163p- syndrome10.2COL11A1, COL2A1
17cervical serous adenocarcinoma10.2COL11A1, COL2A1
18vitreoretinochoroidopathy dominant10.2COL11A1, COL2A1
19fibrolamellar carcinoma10.2COL11A1, COL11A2
20hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism10.2COL11A1, COL9A1
21achondrogenesis, type ii or hypochondrogenesis10.2COL11A1, COL2A1
22spindle epithelial tumor with thymus-like differentiation tumor10.2COL11A1, PTEN
23hyperhomocysteinemia10.1COL11A1, COL2A1
24mannosidosis, alpha-, types i and ii10.1
25acromegaly10.1
26neurofibromatosis10.1
27omphalocele10.1
28angioedema10.1
29al amyloidosis10.1
30otospondylomegaepiphyseal dysplasia10.1COL11A1, COL11A2, COL2A1
31hyperandrogenism10.1COL11A1, COL2A1
32skeleto cardiac syndrome with thrombocytopenia10.1COL11A2, COL2A1
33myasthenic syndrome, congenital, 2a, slow-channel10.1COL11A1, COL11A2, COL2A1
34bone ewing's sarcoma10.1COL11A2, COL2A1, COL9A1
35splenic marginal zone lymphoma10.1COL11A1, COL11A2, COL9A1
36epiphyseal dysplasia, multiple, 110.1COL2A1, COL9A1
37retinal disease10.1COL11A1, COL2A1, COL9A1
38hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia10.1
39aspartylglucosaminuria10.1
40mucopolysaccharidosis type vi10.1
41autoinflammation, lipodystrophy, and dermatosis syndrome10.1
42costello syndrome10.1
43angelman syndrome10.1
44mental retardation, x-linked, syndromic 1510.1
45mucopolysaccharidosis ii10.1
46duchenne muscular dystrophy10.1
47arthritis10.1
48down syndrome10.1
49simpson-golabi-behmel syndrome10.1
50obstructive sleep apnea10.1

Graphical network of the top 20 diseases related to Macroglossia:



Diseases related to macroglossia

Symptoms for Macroglossia

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Symptoms:

 51
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • autosomal dominant inheritance

HPO human phenotypes related to Macroglossia:

id Description Frequency HPO Source Accession
1 abnormality of the tongue hallmark (90%) HP:0000157
2 autosomal dominant inheritance HP:0000006
3 macroglossia HP:0000158

Drugs & Therapeutics for Macroglossia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1A Pilot Study to Evaluate the Safety and Efficacy of the Hypoglossal Nerve Stimulator in Adolescents With Down Syndrome and Obstructive Sleep ApneaRecruitingNCT02344108
2Comparison of Two Insertion Techniques of Proseal Laryngeal Mask Airway by Unskilled Personnel in ChildrenRecruitingNCT01191619

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Genetic Tests for Macroglossia

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Anatomical Context for Macroglossia

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MalaCards organs/tissues related to Macroglossia:

33
Tongue, Cortex, Trachea, Adrenal cortex, Heart, Eye

Animal Models for Macroglossia or affiliated genes

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MGI Mouse Phenotypes related to Macroglossia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.4COL11A1, COL11A2, COL2A1, COL9A1
2MP:00053829.0CDKN1C, COL11A1, COL11A2, COL2A1, PTEN
3MP:00053718.8CDKN1C, COL11A1, COL2A1, COL9A1, PTEN
4MP:00053908.7CDKN1C, COL11A1, COL11A2, COL2A1, COL9A1, PTEN
5MP:00053818.4B2M, CDKN1C, COL11A1, COL2A1, PTEN
6MP:00053877.3B2M, CDKN1C, COL11A1, COL2A1, COL9A1, CSF3

Publications for Macroglossia

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Articles related to Macroglossia:

(show top 50)    (show all 250)
idTitleAuthorsYear
1
13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia. (26365529)
2015
2
Current surgical management of macroglossia. (26101871)
2015
3
Surgical treatment of congenital true macroglossia. (24381769)
2013
4
Congenital macroglossia treated by 2-stage partial glossectomy. (23524740)
2013
5
Macroglossia in amyotrophic lateral sclerosis. (24042440)
2013
6
Congenital macroglossia: surgical and orthodontic management. (22583592)
2012
7
Macroglossia. (21554274)
2011
8
Macroglossia - not always AL amyloidosis. (21401321)
2011
9
A 77-year-old female with macroglossia. (21444941)
2011
10
Cervicofacial cavernous venous malformation with massive macroglossia: novel surgical treatment with harmonic scalpel. (20116727)
2010
11
Anaesthetic consideration in macroglossia due to lymphangioma of tongue: a case report. (20640084)
2009
12
A modified keyhole technique for correction of macroglossia. (19050540)
2008
13
Macroglossia and carpal tunnel syndrome associated with multiple myeloma: a case report. (16285349)
2005
14
Exuberant macroglossia in a patient with primary systemic amyloidosis. (15971439)
2005
15
Episodic macroglossia as the sole manifestation of angiotensin-converting enzyme inhibitor-induced angioedema. (15053206)
2004
16
Macroglossia combined with lymphangioma: a case report. (12597690)
2003
17
Use of the intubating laryngeal mask in failed intubation associated with amyloid macroglossia. (12173233)
2002
18
Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency. (12031620)
2002
19
Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities. (11038325)
2000
20
Technique for uniform reduction of macroglossia. (10876252)
2000
21
Orthodontic-surgical approach in a case of severe open-bite associated with functional macroglossia. (10982938)
2000
22
The treatment of macroglossia before the 20th century. (9950110)
1999
23
Diagnosis of macroglossia and indications for reduction glossectomy. (8760843)
1996
24
Acute transient unilateral macroglossia following use of a LMA. (8665646)
1996
25
Posttraumatic macroglossia complicated by hyaluronidase injection. (8637758)
1996
26
The use of leeches in a case of post-operative life-threatening macroglossia. (7798005)
1995
27
Transient neonatal diabetes mellitus with ketoacidosis and macroglossia. (17590652)
1995
28
Pathologic quiz case 1. Lymphangiomatous macroglossia. (1986756)
1991
29
The efficacy of tongue resection in treatment of symptomatic macroglossia in the child. (2143060)
1990
30
Macroglossia: clinical considerations. (2637234)
1989
31
Macroglossia and ankyloglossia in Beckwith-Wiedemann syndrome. (3422394)
1988
32
Massive macroglossia, amyloidosis and myeloma. (3150784)
1988
33
Postoperative macroglossia causing airway obstruction. (4030241)
1985
34
Computed tomography of macroglossia secondary to amyloidosis. (6736364)
1984
35
Chronic alveolar hypoventilation secondary to macroglossia in the Beckwith-Wiedemann syndrome. (7133819)
1982
36
The exomphalos, macroglossia, gigantism (E.M.G.) syndrome: a case report and review of the literature. (650125)
1978
37
Macroglossia in the Beckwith-Wiedemann syndrome. (855081)
1977
38
Lymphangiomatous macroglossia. (1053377)
1976
39
Macroglossia--a positional complication. (4812721)
1974
40
Omphalocoele, macroglossia and neonatal hypoglycemia (Beckwith's syndrome): two cases of Kenyan newborns. (4779525)
1973
41
Amyloidosis: report of a case presenting with macroglossia. (4726108)
1973
42
Exomphalos-macroglossia-gigantism (visceromegaly) syndrome. (The Beckwith-Wiedemann syndrome). (5058514)
1972
43
Congenital macroglossia. (5548986)
1971
44
Partial glossectomy for macroglossia. (5278785)
1971
45
The macroglossia of Beckwith's syndrome. (5435867)
1970
46
Exomphalos-macroglossia-gigantism syndrome in Jamaican infants. (5434588)
1970
47
Exomphalos with macroglossia: a study of eleven cases. (4865835)
1967
48
Angular cheilosis and macroglossia; report of a case. (13224194)
1955
49
Amyloid macroglossia. (20288320)
1947
50
Specimen of Congenital Macroglossia. (19986296)
1928

Variations for Macroglossia

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Expression for genes affiliated with Macroglossia

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Search GEO for disease gene expression data for Macroglossia.

Pathways for genes affiliated with Macroglossia

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GO Terms for genes affiliated with Macroglossia

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Cellular components related to Macroglossia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen type XI trimerGO:000559210.4COL11A1, COL11A2
2collagen trimerGO:00055819.4COL11A1, COL11A2, COL2A1
3endoplasmic reticulum lumenGO:00057888.3B2M, COL11A1, COL11A2, COL2A1, COL9A1
4extracellular regionGO:00055766.8B2M, C1S, COL11A1, COL11A2, COL2A1, COL9A1

Biological processes related to Macroglossia according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1cartilage condensationGO:000150210.2COL11A1, COL2A1
2proteoglycan metabolic processGO:000602910.1COL11A1, COL2A1
3tissue homeostasisGO:000189410.1COL2A1, COL9A1
4skeletal system morphogenesisGO:004870510.1COL11A1, COL2A1
5ossificationGO:00015039.9COL11A1, COL11A2, COL2A1
6sensory perception of soundGO:00076059.8COL11A1, COL11A2, COL2A1
7skeletal system developmentGO:00015019.8CDKN1C, COL11A2, COL2A1
8collagen fibril organizationGO:00301999.7COL11A1, COL11A2, COL2A1
9cartilage developmentGO:00512169.4COL11A1, COL11A2, COL2A1, COL9A1
10extracellular matrix disassemblyGO:00226179.2COL11A1, COL11A2, COL2A1, COL9A1
11extracellular matrix organizationGO:00301989.2COL11A1, COL11A2, COL2A1, COL9A1
12collagen catabolic processGO:00305748.9COL11A1, COL11A2, COL2A1, COL9A1

Molecular functions related to Macroglossia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.5COL11A1, COL11A2, COL2A1
2extracellular matrix structural constituent conferring tensile strengthGO:00300209.5COL11A2, COL2A1, COL9A1
3identical protein bindingGO:00428028.5B2M, C1S, COL2A1, PTEN

Sources for Macroglossia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet