MCID: MCR037
MIFTS: 45

Macroglossia malady

Categories: Rare diseases, Gastrointestinal diseases, Fetal diseases

Aliases & Classifications for Macroglossia

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Sources:
27GTR, 30ICD10, 31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Macroglossia:

Name: Macroglossia 52 48 27 50
Congenital Macroglossia 48 54
 
Enlarged Tongue 48
Giant Tongue 48

Characteristics:

HPO:

64
macroglossia:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 153630
Orphanet54 ORPHA2430
UMLS via Orphanet69 C0009677
ICD10 via Orphanet31 Q38.2
MESH via Orphanet40 C531735
ICD1030 Q38.2

Summaries for Macroglossia

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NIH Rare Diseases:48 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 beckwith-wiedemann syndrome and kleefstra syndrome, and has symptoms including Array and macroglossia. An important gene associated with Macroglossia is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C), and among its related pathways are PI3K-Akt signaling pathway and Collagen chain trimerization. Affiliated tissues include tongue, trachea and adrenal cortex.

OMIM:52 Macroglossia is an abnormal enlargement of the tongue. It is commonly observed with type 2 glycogen storage disease... (153630) more...

Wikipedia:71 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 84)
idRelated DiseaseScoreTop Affiliating Genes
1beckwith-wiedemann syndrome11.8
2kleefstra syndrome10.9
3mental retardation, x-linked, syndromic 1510.8
4stickler syndrome, type ii10.7
5stickler syndrome, type iii10.7
6stickler syndrome, type iv10.7
7cowden syndrome 110.7
8stickler syndrome, type i10.7
9catel-manzke syndrome10.7
10mannosidosis, alpha-, types i and ii10.7
11simpson-golabi-behmel syndrome10.7
12amyloidosis10.3
13hemorrhagic fever10.2CDKN1C, PTEN
14marshall syndrome10.2COL11A1, COL2A1
15fibrochondrogenesis 110.2COL11A1, COL2A1
16pterygium, antecubital10.2CDKN1C, COL2A1
17plantar nerve lesion10.2COL11A1, COL2A1
18moyamoya disease10.2COL11A1, COL2A1
19warm antibody hemolytic anemia10.2COL11A1, COL2A1
20ureter cancer10.1COL11A1, COL2A1
21adult-onset still's disease10.1COL11A1, COL2A1
22epiphyseal dysplasia, multiple, with myopia and deafness10.1COL11A1, COL2A1
23oto-palatal-digital syndrome10.1COL11A2, COL2A1
24deafness, autosomal recessive 5310.1COL11A2, COL2A1
25maternally-inherited mitochondrial dystonia10.1COL11A1, COL9A1
26gigantism10.1
27encephalomalacia10.1B2M, CDKN1C
28albright's hereditary osteodystrophy10.1COL11A1, COL2A1
29smed strudwick type10.0COL11A1, COL2A1
30salt and pepper syndrome10.0COL11A1, COL11A2
31neuropathy, distal hereditary motor, type iia10.0COL11A1, COL2A1
32slti salem syndrome10.0COL11A2, COL2A1
33deafness, autosomal dominant 139.9COL11A1, COL11A2, COL2A1
34myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency9.9COL11A1, COL11A2, COL2A1
35intermediate uveitis9.9COL2A1, COL9A1
36lymphangioma9.9
37muscular dystrophy9.9
38hypoglycemia9.9
39syngnathia cleft palate9.9COL11A1, COL11A2, COL9A1
40multiple myeloma9.9
41neonatal diabetes mellitus9.9
42hypothyroidism9.9
43lipomatosis9.9
44omphalocele9.8
45angioedema9.8
46neurofibromatosis9.8
47al amyloidosis9.8
48charcot-marie-tooth disease type 59.7COL11A1, COL11A2, COL2A1, COL9A1
49duchenne muscular dystrophy9.7
50arthritis9.7

Graphical network of the top 20 diseases related to Macroglossia:



Diseases related to macroglossia

Symptoms & Phenotypes for Macroglossia

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Symptoms by clinical synopsis from OMIM:

153630

Clinical features from OMIM:

153630

Human phenotypes related to Macroglossia:

 54 64
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia64 54 Very frequent (99-80%) HP:0000158

Drugs & Therapeutics for Macroglossia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Comparison of Two Insertion Techniques of Proseal Laryngeal Mask Airway by Unskilled Personnel in ChildrenUnknown statusNCT01191619
2A Pilot Study to Evaluate the Safety and Efficacy of the Hypoglossal Nerve Stimulator in Adolescents With Down Syndrome and Obstructive Sleep ApneaRecruitingNCT02344108

Search NIH Clinical Center for Macroglossia

Genetic Tests for Macroglossia

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Genetic tests related to Macroglossia:

id Genetic test Affiliating Genes
1 Macroglossia27

Anatomical Context for Macroglossia

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MalaCards organs/tissues related to Macroglossia:

36
Tongue, Trachea, Adrenal cortex, Heart, Cortex, Eye

Publications for Macroglossia

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Articles related to Macroglossia:

(show top 50)    (show all 261)
idTitleAuthorsYear
1
Macroglossia. (28168951)
2017
2
Intermittent hypoxia causes mandibular growth retardation and macroglossia in growing rats. (28153167)
2017
3
Symmetric Lipomatosis Arising in the Tongue Presenting as Macroglossia and Articulatory Disorder. (27413566)
2016
4
Surgical management of macroglossia secondary to amyloidosis. (27068724)
2016
5
Macroglossia in advanced amyotrophic lateral sclerosis. (26816340)
2016
6
A case of symmetrical lipomatosis of the tongue presenting as macroglossia. (27427539)
2016
7
Macroglossia and periorbital ecchymosis. (26905771)
2016
8
Application of Maxillomandibular Fixation for Management of Traumatic Macroglossia: A Case Report. (26576243)
2015
9
Massive macroglossia secondary to angioedema: a review and presentation of a case. (25883001)
2015
10
Macroglossia Associated with Lymphangioma: Surgical Management of An Interesting Case. (26672763)
2015
11
Macroglossia. (25824898)
2015
12
13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia. (26365529)
2015
13
Successful Treatment of Macroglossia Due to Lymphatic Malformation With Sirolimus. (25902840)
2015
14
Current surgical management of macroglossia. (26101871)
2015
15
Life-threatening macroglossia after posterior fossa surgery: a surgical positioning problem? (25654956)
2014
16
Sensory changes after tongue reduction for macroglossia. (22901656)
2014
17
Macroglossia as the only presenting feature of amyloidosis due to MGUS. (23799910)
2014
18
Methylprednisolone sodium succinate-associated macroglossia in a critically ill patient. (23386601)
2013
19
Orthodontic treatment of a patient with Duchenne muscular dystrophy and macroglossia: how informed consent was critical to success. (24286912)
2013
20
Successful perioperative airway management in a patient with angiomatous macroglossia for laser ablation under general anesthesia. (23619724)
2013
21
Congenital macroglossia treated by 2-stage partial glossectomy. (23524740)
2013
22
Management of macroglossia in Beckwith-Wiedemann syndrome. (22341741)
2013
23
Tongue reduction for macroglossia in Beckwith Wiedemann syndrome: review and application of new technique. (23041202)
2013
24
Ultrasonography of the tongue in macroglossia - a case report. (26673678)
2013
25
Lymphangiomatous macroglossia associated with extensive cervicomediastinal cystic hygromas. (24012214)
2013
26
Macroglossia in amyotrophic lateral sclerosis. (24042440)
2013
27
The surgical management of severe macroglossia in systemic AL amyloidosis. (22591765)
2013
28
Surgical treatment of macroglossia caused by systemic primary amyloidosis. (22727361)
2013
29
Macroglossia Associated with Brainstem Injury. (24002892)
2013
30
Phenytoin induced life threatening macroglossia in a child. (23546362)
2013
31
Symmetrical lipomatosis of the tongue-a rare cause of macroglossia: diagnosis, surgical treatment, and literature review. (23288609)
2013
32
Surgical treatment of congenital true macroglossia. (24381769)
2013
33
Macroglossia and generalized edema not due to hypothyroidism. (22052249)
2012
34
Massive macroglossia after palatoplasty: case report and review of the literature. (21912891)
2012
35
Massive macroglossia developing fast and immediately after endotracheal extubation. (22103631)
2012
36
Genetic causes of macroglossia: diagnostic approach. (22250026)
2012
37
Surgical management of obstructive sleep apnea in acromegaly with mandibular prognathism and macroglossia: a treatment dilemma. (21824705)
2012
38
Macroglossia in a child undergoing posterior fossa surgery in sitting position. (22412792)
2012
39
The effects of macroglossia on speech: a case study. (21728833)
2012
40
Response of glandular organs to experimental macroglossia. (22816101)
2012
41
Surgical treatment of macroglossia in patients with Beckwith-Wiedemann syndrome: a 20-year experience and review of the literature. (22104000)
2012
42
Congenital macroglossia: surgical and orthodontic management. (22583592)
2012
43
Lingual angioedema with macroglossia during the treatment of acute ischemic stroke with alteplase. (22399862)
2012
44
Double stellate tongue reduction: a new method of treatment for macroglossia in patients with Beckwith-wiedemann syndrome. (21407066)
2011
45
Utilization of a modified bite guard for preventing traumatic macroglossia. (21233745)
2011
46
Macroglossia associated with 271 bp deletion in exon 50 of dystrophin gene. (21655206)
2011
47
Macroglossia due to Systemic Amyloidosis: Is There a Role for Radiotherapy? (21941488)
2011
48
Three-dimensional computerized tomographic angiography diagnosis and surgical treatment of macroglossia with huge venous malformation: a case report. (21292516)
2011
49
Giant macroglossia with persistent nonocclusion in a neonate. (22005373)
2011
50
Unilateral macroglossia as sole presenting manifestation of internal carotid artery dissection. (21938704)
2011

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:000559210.2COL11A1, COL11A2
2collagen trimerGO:00055819.3COL11A1, COL11A2, COL2A1, COL9A1
3endoplasmic reticulum lumenGO:00057889.0B2M, COL11A1, COL11A2, COL2A1, COL9A1
4proteinaceous extracellular matrixGO:00055788.5COL11A1, COL11A2, COL2A1, COL9A1
5extracellular regionGO:00055767.7B2M, C1S, COL11A1, COL11A2, COL2A1, COL9A1

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1cartilage condensationGO:000150210.4COL11A1, COL2A1
2heart morphogenesisGO:000300710.3COL11A1, COL2A1
3proteoglycan metabolic processGO:000602910.3COL11A1, COL2A1
4chondrocyte differentiationGO:000206210.2COL11A2, COL2A1
5extracellular matrix organizationGO:00301989.8COL11A1, COL2A1, COL9A1
6cartilage developmentGO:00512169.7COL11A1, COL11A2, COL2A1
7collagen catabolic processGO:00305749.7COL11A1, COL11A2, COL2A1
8collagen fibril organizationGO:00301999.7COL11A1, COL11A2, COL2A1
9skeletal system developmentGO:00015019.7CDKN1C, COL11A2, COL2A1
10ossificationGO:00015039.7COL11A1, COL11A2, COL2A1
11sensory perception of soundGO:00076059.6COL11A1, COL11A2, COL2A1
12tissue homeostasisGO:00018949.5COL11A2, COL2A1
13skeletal system morphogenesisGO:00487059.4COL11A1, COL11A2, COL2A1

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.2COL11A1, COL11A2, COL2A1
2extracellular matrix structural constituent conferring tensile strengthGO:00300209.0COL11A2, COL2A1, COL9A1

Sources for Macroglossia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet