MCID: MCR037
MIFTS: 45

Macroglossia malady

Categories: Rare diseases, Gastrointestinal diseases, Fetal diseases

Aliases & Classifications for Macroglossia

About this section
Sources:
50OMIM, 46NIH Rare Diseases, 25GTR, 48Novoseek, 52Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 28ICD10, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Macroglossia:

Name: Macroglossia 50 46 25 48
Congenital Macroglossia 46 52
 
Enlarged Tongue 46
Giant Tongue 46

Characteristics:

HPO:

62
macroglossia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 153630
Orphanet52 ORPHA2430
ICD10 via Orphanet29 Q38.2
MESH via Orphanet38 C531735
UMLS via Orphanet67 C0009677
ICD1028 Q38.2

Summaries for Macroglossia

About this section
NIH Rare Diseases:46 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 stickler syndrome, type ii and beckwith-wiedemann syndrome, and has symptoms including abnormality of the tongue, macroglossia and Array. An important gene associated with Macroglossia is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C), and among its related pathways are Protein digestion and absorption and Degradation of the extracellular matrix. Affiliated tissues include tongue, trachea and adrenal cortex.

OMIM:50 Macroglossia is an abnormal enlargement of the tongue. It is commonly observed with type 2 glycogen storage disease... (153630) more...

Wikipedia:69 Macroglossia is the medical term for an unusually large tongue. Severe enlargement of the tongue can... more...

Related Diseases for Macroglossia

About this section

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

(show top 50)    (show all 81)
idRelated DiseaseScoreTop Affiliating Genes
1stickler syndrome, type ii30.6COL11A1, COL2A1
2beckwith-wiedemann syndrome11.7
3mental retardation, x-linked, syndromic 1510.9
4bagassosis10.6COL11A1, COL11A2
5marshall syndrome10.5COL11A1, COL2A1
6deafness, autosomal dominant 1310.5COL11A2, COL2A1
7moyamoya disease10.5COL11A1, COL2A1
8ureteric orifice cancer10.5COL11A1, COL2A1
9isotretinoin syndrome10.5COL11A1, COL9A1
10retinal dystrophy in systemic or cerebroretinal lipidoses10.5COL11A1, COL2A1
11wallerian degeneration10.4COL11A1, COL2A1
12ptosis, strabismus, and ectopic pupils10.4CDKN1C, COL2A1
13humeroradial synostosis10.4COL11A1, COL11A2
14smed strudwick type10.4COL11A1, COL2A1
15amyloidosis10.4
16acromesomelic dysplasia10.4COL11A1, COL2A1
17slc40a1-related hereditary hemochromatosis10.3COL11A1, COL2A1
18achondrogenesis, type ii or hypochondrogenesis10.3COL11A1, COL2A1
19weissenbacher-zweymuller syndrome10.3COL11A1, COL11A2, COL2A1
20myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency10.3COL11A1, COL11A2, COL2A1
21spondylolisthesis10.2COL11A1, COL11A2, COL9A1
22gigantism10.2
23alveolar soft-part sarcoma10.2COL11A2, COL2A1
24myeloma10.2
25immunodeficiency 3010.0COL2A1, COL9A1
26lymphangioma10.0
27muscular dystrophy10.0
28hypoglycemia10.0
29kleefstra syndrome10.0
30multiple myeloma10.0
31neonatal diabetes mellitus10.0
32hypothyroidism10.0
33lipomatosis10.0
34omphalocele9.9
35angioedema9.9
36neurofibromatosis9.9
37al amyloidosis9.9
38albright's hereditary osteodystrophy9.9COL11A1, COL11A2, COL2A1, COL9A1
39pars planitis9.8COL2A1, COL9A1
40stickler syndrome, type iii9.8
41stickler syndrome, type iv9.8
42cowden syndrome 19.8
43stickler syndrome, type i9.8
44catel-manzke syndrome9.8
45mannosidosis, alpha-, types i and ii9.8
46simpson-golabi-behmel syndrome9.8
47duchenne muscular dystrophy9.8
48arthritis9.8
49sleep apnea9.8
50obstructive sleep apnea9.8

Graphical network of the top 20 diseases related to Macroglossia:



Diseases related to macroglossia

Symptoms for Macroglossia

About this section

Symptoms by clinical synopsis from OMIM:

153630

Clinical features from OMIM:

153630

Symptoms:

 52
  • macroglossia

HPO human phenotypes related to Macroglossia:

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

Drugs & Therapeutics for Macroglossia

About this section

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

Search NIH Clinical Center for Macroglossia

Genetic Tests for Macroglossia

About this section

Genetic tests related to Macroglossia:

id Genetic test Affiliating Genes
1 Macroglossia25

Anatomical Context for Macroglossia

About this section

MalaCards organs/tissues related to Macroglossia:

34
Tongue, Trachea, Adrenal cortex, Heart, Cortex, Eye

Animal Models for Macroglossia or affiliated genes

About this section

Publications for Macroglossia

About this section

Articles related to Macroglossia:

(show top 50)    (show all 259)
idTitleAuthorsYear
1
Surgical management of macroglossia secondary to amyloidosis. (27068724)
2016
2
A case of symmetrical lipomatosis of the tongue presenting as macroglossia. (27427539)
2016
3
13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia. (26365529)
2015
4
Massive macroglossia secondary to angioedema: a review and presentation of a case. (25883001)
2015
5
Application of Maxillomandibular Fixation for Management of Traumatic Macroglossia: A Case Report. (26576243)
2015
6
Life-threatening macroglossia after posterior fossa surgery: a surgical positioning problem? (25654956)
2014
7
Surgical treatment of congenital true macroglossia. (24381769)
2013
8
Macroglossia in amyotrophic lateral sclerosis. (24042440)
2013
9
Methylprednisolone sodium succinate-associated macroglossia in a critically ill patient. (23386601)
2013
10
Massive macroglossia developing fast and immediately after endotracheal extubation. (22103631)
2012
11
The effects of macroglossia on speech: a case study. (21728833)
2012
12
A 77-year-old female with macroglossia. (21444941)
2011
13
Utilization of a modified bite guard for preventing traumatic macroglossia. (21233745)
2011
14
Macroglossia due to Systemic Amyloidosis: Is There a Role for Radiotherapy? (21941488)
2011
15
Focal myositis of the tongue presenting as macroglossia. (20055851)
2009
16
Macroglossia caused by adenoid cystic carcinoma. Case report. (18521061)
2008
17
Reduction of traumatic macroglossia with base of tongue corticosteroid injection. (19041523)
2008
18
Macroglossia and carpal tunnel syndrome associated with multiple myeloma: a case report. (16285349)
2005
19
Acquired macroglossia due to lopinavir/ritonavir treatment. (15610408)
2005
20
Macroglossia as a manifestation of post-kala-azar dermal leishmaniasis: a case report. (15689211)
2005
21
Use of the intubating laryngeal mask in failed intubation associated with amyloid macroglossia. (12173233)
2002
22
Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency. (12031620)
2002
23
The use of medicinal leeches to treat macroglossia secondary to blunt trauma. (11743470)
2001
24
Nodular macroglossia with combined light chain and beta-2 microglobulin deposition in a long-term dialysis patient. (11411015)
2001
25
Technique for uniform reduction of macroglossia. (10876252)
2000
26
Airway obstruction caused by bee sting macroglossia. (10793370)
2000
27
Comment on macroglossia and reduction glossectomy. (9109569)
1997
28
Acute transient unilateral macroglossia following use of a LMA. (8665646)
1996
29
Macroglossia: more than meets the eye. (8648554)
1996
30
Acute macroglossia causing upper-airway obstruction. (8863217)
1996
31
Autosomal dominant macroglossia: an addendum to the etiological classification. (7705227)
1995
32
Central tongue reduction for macroglossia. (8479986)
1993
33
Plastic surgery for macroglossia in Downs syndrome: reported satisfaction of parents, immediate and three months postsurgery. (1535698)
1992
34
Pathologic quiz case 1. Lymphangiomatous macroglossia. (1986756)
1991
35
Early tongue resection for Beckwith-Wiedemann macroglossia. (3994256)
1985
36
Macroglossia in a 16-month-old child after a craniotomy. (3994042)
1985
37
Computed tomography of macroglossia secondary to amyloidosis. (6736364)
1984
38
Chronic alveolar hypoventilation secondary to macroglossia in the Beckwith-Wiedemann syndrome. (7133819)
1982
39
Macroglossia, transient neonatal diabetes mellitus and intrauterine growth failure: a new distinct entity? (1110857)
1975
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 syndrome in Jamaican infants. (5434588)
1970
43
Low set ears and small oral cavity with relative macroglossia in Down's syndrome: an explanation of the phenomenon. (4283608)
1970
44
Macroglossia, abnormal umbilicus and hypoglycaemia (Beckwith's syndrome). (5440739)
1970
45
Exomphalos with macroglossia: a study of eleven cases. (4865835)
1967
46
New syndrome of neonatal hypoglycemia. Association with visceromegaly, macroglossia, microcephaly and abnormal umbilicus. (5943267)
1966
47
Macroglossia or giant tongue; case report. (13311674)
1956
48
Amyloid macroglossia; report of a case. (20284032)
1947
49
Primary systematized amyloidosis with macroglossia; a syndrome related to Bence Jones proteinuria and myeloma. (20287348)
1947
50
Primary systematized amyloidosis with macroglossia; a syndrome related to Bence-Jones proteinuria and myeloma. (20289532)
1947

Variations for Macroglossia

About this section

Expression for genes affiliated with Macroglossia

About this section
Search GEO for disease gene expression data for Macroglossia.

Pathways for genes affiliated with Macroglossia

About this section

GO Terms for genes affiliated with Macroglossia

About this section

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

idNameGO IDScoreTop Affiliating Genes
1collagen type XI trimerGO:000559210.5COL11A1, COL11A2
2collagen trimerGO:000558110.1COL11A1, COL11A2, COL2A1
3endoplasmic reticulum lumenGO:00057888.6B2M, COL11A1, COL11A2, COL2A1, COL9A1
4extracellular regionGO:00055767.1B2M, C1S, COL11A1, COL11A2, COL2A1, COL9A1

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:000602910.4COL11A1, COL2A1
2cartilage condensationGO:000150210.2COL11A1, COL2A1
3tissue homeostasisGO:000189410.2COL11A2, COL2A1
4heart morphogenesisGO:000300710.1COL11A1, COL2A1
5skeletal system morphogenesisGO:004870510.0COL11A1, COL11A2, COL2A1
6collagen catabolic processGO:00305749.9COL11A1, COL11A2, COL2A1
7chondrocyte differentiationGO:00020629.8COL11A2, COL2A1, COL9A1
8cartilage developmentGO:00512169.7COL11A1, COL11A2, COL2A1
9sensory perception of soundGO:00076059.7COL11A1, COL11A2, COL2A1
10collagen fibril organizationGO:00301999.5COL11A1, COL11A2, COL2A1
11ossificationGO:00015039.5COL11A1, COL11A2, COL2A1
12skeletal system developmentGO:00015019.5CDKN1C, COL11A2, COL2A1
13extracellular matrix organizationGO:00301989.2COL11A1, COL2A1, COL9A1

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituent conferring tensile strengthGO:00300209.9COL11A2, COL2A1, COL9A1
2identical protein bindingGO:00428028.5B2M, C1S, COL2A1, PTEN

Sources for Macroglossia

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet