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 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: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 77)
idRelated DiseaseScoreTop Affiliating Genes
1stickler syndrome, type ii31.8COL11A1, COL2A1
2beckwith-wiedemann syndrome11.8
3kleefstra syndrome10.9
4cowden syndrome 110.9
5mental retardation, x-linked, syndromic 1510.8
6stickler syndrome, type iii10.7
7stickler syndrome, type iv10.7
8stickler syndrome, type i10.7
9catel-manzke syndrome10.7
10mannosidosis, alpha-, types i and ii10.7
11bagassosis10.5COL11A1, COL11A2
12marshall syndrome10.4COL11A1, COL2A1
13deafness, autosomal dominant 1310.4COL11A2, COL2A1
14moyamoya disease10.4COL11A1, COL2A1
15ureteric orifice cancer10.4COL11A1, COL2A1
16isotretinoin syndrome10.4COL11A1, COL9A1
17retinal dystrophy in systemic or cerebroretinal lipidoses10.4COL11A1, COL2A1
18wallerian degeneration10.4COL11A1, COL2A1
19ptosis, strabismus, and ectopic pupils10.4CDKN1C, COL2A1
20humeroradial synostosis10.4COL11A1, COL11A2
21smed strudwick type10.3COL11A1, COL2A1
22acromesomelic dysplasia10.3COL11A1, COL2A1
23amyloidosis10.3
24slc40a1-related hereditary hemochromatosis10.3COL11A1, COL2A1
25achondrogenesis, type ii or hypochondrogenesis10.2COL11A1, COL2A1
26weissenbacher-zweymuller syndrome10.2COL11A1, COL11A2, COL2A1
27myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency10.2COL11A1, COL11A2, COL2A1
28spondylolisthesis10.2COL11A1, COL11A2, COL9A1
29alveolar soft-part sarcoma10.2COL11A2, COL2A1
30gigantism10.1
31immunodeficiency 3010.0COL2A1, COL9A1
32lymphangioma9.9
33muscular dystrophy9.9
34hypoglycemia9.9
35multiple myeloma9.9
36neonatal diabetes mellitus9.9
37hypothyroidism9.9
38lipomatosis9.9
39pars planitis9.8COL2A1, COL9A1
40omphalocele9.8
41angioedema9.8
42al amyloidosis9.8
43neurotic disorder9.7B2M, CSF3
44duchenne muscular dystrophy9.7
45arthritis9.7
46sleep apnea9.7
47obstructive sleep apnea9.7
48lymphoma9.7
49down syndrome9.7
50lateral sclerosis9.7

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:

 64 54
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the tongue64 hallmark (90%) HP:0000157
2 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 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
Macroglossia and periorbital ecchymosis. (26905771)
2016
4
Macroglossia in advanced amyotrophic lateral sclerosis. (26816340)
2016
5
Symmetric Lipomatosis Arising in the Tongue Presenting as Macroglossia and Articulatory Disorder. (27413566)
2016
6
13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia. (26365529)
2015
7
Massive macroglossia secondary to angioedema: a review and presentation of a case. (25883001)
2015
8
Application of Maxillomandibular Fixation for Management of Traumatic Macroglossia: A Case Report. (26576243)
2015
9
Macroglossia. (25824898)
2015
10
Current surgical management of macroglossia. (26101871)
2015
11
Successful Treatment of Macroglossia Due to Lymphatic Malformation With Sirolimus. (25902840)
2015
12
Macroglossia Associated with Lymphangioma: Surgical Management of An Interesting Case. (26672763)
2015
13
Life-threatening macroglossia after posterior fossa surgery: a surgical positioning problem? (25654956)
2014
14
Macroglossia as the only presenting feature of amyloidosis due to MGUS. (23799910)
2014
15
Sensory changes after tongue reduction for macroglossia. (22901656)
2014
16
Surgical treatment of congenital true macroglossia. (24381769)
2013
17
Macroglossia in amyotrophic lateral sclerosis. (24042440)
2013
18
Methylprednisolone sodium succinate-associated macroglossia in a critically ill patient. (23386601)
2013
19
Successful perioperative airway management in a patient with angiomatous macroglossia for laser ablation under general anesthesia. (23619724)
2013
20
Ultrasonography of the tongue in macroglossia - a case report. (26673678)
2013
21
Management of macroglossia in Beckwith-Wiedemann syndrome. (22341741)
2013
22
Tongue reduction for macroglossia in Beckwith Wiedemann syndrome: review and application of new technique. (23041202)
2013
23
Congenital macroglossia treated by 2-stage partial glossectomy. (23524740)
2013
24
Surgical treatment of macroglossia caused by systemic primary amyloidosis. (22727361)
2013
25
The surgical management of severe macroglossia in systemic AL amyloidosis. (22591765)
2013
26
Symmetrical lipomatosis of the tongue-a rare cause of macroglossia: diagnosis, surgical treatment, and literature review. (23288609)
2013
27
Orthodontic treatment of a patient with Duchenne muscular dystrophy and macroglossia: how informed consent was critical to success. (24286912)
2013
28
Macroglossia Associated with Brainstem Injury. (24002892)
2013
29
Phenytoin induced life threatening macroglossia in a child. (23546362)
2013
30
Lymphangiomatous macroglossia associated with extensive cervicomediastinal cystic hygromas. (24012214)
2013
31
Massive macroglossia developing fast and immediately after endotracheal extubation. (22103631)
2012
32
The effects of macroglossia on speech: a case study. (21728833)
2012
33
Genetic causes of macroglossia: diagnostic approach. (22250026)
2012
34
Response of glandular organs to experimental macroglossia. (22816101)
2012
35
Massive macroglossia after palatoplasty: case report and review of the literature. (21912891)
2012
36
Congenital macroglossia: surgical and orthodontic management. (22583592)
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
Macroglossia and generalized edema not due to hypothyroidism. (22052249)
2012
40
Lingual angioedema with macroglossia during the treatment of acute ischemic stroke with alteplase. (22399862)
2012
41
Surgical treatment of macroglossia in patients with Beckwith-Wiedemann syndrome: a 20-year experience and review of the literature. (22104000)
2012
42
A 77-year-old female with macroglossia. (21444941)
2011
43
Utilization of a modified bite guard for preventing traumatic macroglossia. (21233745)
2011
44
Macroglossia due to Systemic Amyloidosis: Is There a Role for Radiotherapy? (21941488)
2011
45
AL amyloidosis in a patient with macroglossia. (22295339)
2011
46
Giant macroglossia with persistent nonocclusion in a neonate. (22005373)
2011
47
Three-dimensional computerized tomographic angiography diagnosis and surgical treatment of macroglossia with huge venous malformation: a case report. (21292516)
2011
48
Macroglossia associated with 271 bp deletion in exon 50 of dystrophin gene. (21655206)
2011
49
Macroglossia. (21554274)
2011
50
Macroglossia - not always AL amyloidosis. (21401321)
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:000559210.6COL11A1, COL11A2
2collagen trimerGO:000558110.3COL11A1, COL11A2, COL2A1
3endoplasmic reticulum lumenGO:00057889.3B2M, 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
1cartilage condensationGO:000150210.5COL11A1, COL2A1
2heart morphogenesisGO:000300710.5COL11A1, COL2A1
3proteoglycan metabolic processGO:000602910.5COL11A1, COL2A1
4cartilage developmentGO:005121610.2COL11A1, COL11A2, COL2A1
5collagen catabolic processGO:003057410.2COL11A1, COL11A2, COL2A1
6collagen fibril organizationGO:003019910.2COL11A1, COL11A2, COL2A1
7ossificationGO:000150310.2COL11A1, COL11A2, COL2A1
8chondrocyte differentiationGO:000206210.1COL11A2, COL2A1, COL9A1
9sensory perception of soundGO:000760510.1COL11A1, COL11A2, COL2A1
10extracellular matrix organizationGO:003019810.1COL11A1, COL2A1, COL9A1
11skeletal system developmentGO:000150110.0CDKN1C, COL11A2, COL2A1
12skeletal system morphogenesisGO:00487059.9COL11A1, COL11A2, COL2A1
13tissue homeostasisGO:00018949.8COL11A2, COL2A1

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituent conferring tensile strengthGO:003002010.1COL11A2, COL2A1, COL9A1
2identical protein bindingGO:00428028.5B2M, C1S, COL2A1, PTEN

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