Macroglossia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Aliases & Classifications for Macroglossia

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:

MalaCards categories:
Global: Rare diseases, Fetal diseases
Anatomical: Gastrointestinal diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³⁰

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations of the digestive system

Other congenital malformations of tongue, mouth and pharynx

Macroglossia

Orphanet: ⁵⁴

Developmental anomalies during embryogenesis

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

Sources:
³⁶MalaCards, ⁴⁸NIH Rare Diseases, ⁵²OMIM, ⁷¹Wikipedia
See all MalaCards sources

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

Sources:
²⁰GeneAnalytics, ²¹GeneCards
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Diseases related to Macroglossia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 84)

id	Related Disease	Score	Top Affiliating Genes
1	beckwith-wiedemann syndrome	11.8
2	kleefstra syndrome	10.9
3	mental retardation, x-linked, syndromic 15	10.8
4	stickler syndrome, type ii	10.7
5	stickler syndrome, type iii	10.7
6	stickler syndrome, type iv	10.7
7	cowden syndrome 1	10.7
8	stickler syndrome, type i	10.7
9	catel-manzke syndrome	10.7
10	mannosidosis, alpha-, types i and ii	10.7
11	simpson-golabi-behmel syndrome	10.7
12	amyloidosis	10.3
13	hemorrhagic fever	10.2	CDKN1C, PTEN
14	marshall syndrome	10.2	COL11A1, COL2A1
15	fibrochondrogenesis 1	10.2	COL11A1, COL2A1
16	pterygium, antecubital	10.2	CDKN1C, COL2A1
17	plantar nerve lesion	10.2	COL11A1, COL2A1
18	moyamoya disease	10.2	COL11A1, COL2A1
19	warm antibody hemolytic anemia	10.2	COL11A1, COL2A1
20	ureter cancer	10.1	COL11A1, COL2A1
21	adult-onset still's disease	10.1	COL11A1, COL2A1
22	epiphyseal dysplasia, multiple, with myopia and deafness	10.1	COL11A1, COL2A1
23	oto-palatal-digital syndrome	10.1	COL11A2, COL2A1
24	deafness, autosomal recessive 53	10.1	COL11A2, COL2A1
25	maternally-inherited mitochondrial dystonia	10.1	COL11A1, COL9A1
26	gigantism	10.1
27	encephalomalacia	10.1	B2M, CDKN1C
28	albright's hereditary osteodystrophy	10.1	COL11A1, COL2A1
29	smed strudwick type	10.0	COL11A1, COL2A1
30	salt and pepper syndrome	10.0	COL11A1, COL11A2
31	neuropathy, distal hereditary motor, type iia	10.0	COL11A1, COL2A1
32	slti salem syndrome	10.0	COL11A2, COL2A1
33	deafness, autosomal dominant 13	9.9	COL11A1, COL11A2, COL2A1
34	myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency	9.9	COL11A1, COL11A2, COL2A1
35	intermediate uveitis	9.9	COL2A1, COL9A1
36	lymphangioma	9.9
37	muscular dystrophy	9.9
38	hypoglycemia	9.9
39	syngnathia cleft palate	9.9	COL11A1, COL11A2, COL9A1
40	multiple myeloma	9.9
41	neonatal diabetes mellitus	9.9
42	hypothyroidism	9.9
43	lipomatosis	9.9
44	omphalocele	9.8
45	angioedema	9.8
46	neurofibromatosis	9.8
47	al amyloidosis	9.8
48	charcot-marie-tooth disease type 5	9.7	COL11A1, COL11A2, COL2A1, COL9A1
49	duchenne muscular dystrophy	9.7
50	arthritis	9.7

Graphical network of the top 20 diseases related to Macroglossia:

Symptoms & Phenotypes for Macroglossia

Sources:
⁵²OMIM, ⁵⁴Orphanet, ⁶⁴The Human Phenotype Ontology
See all MalaCards sources

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

Sources:
⁴ClinicalTrials, ⁴⁶NDF-RT, ⁶⁸UMLS
See all MalaCards sources

Interventional clinical trials:

id	Name	Status	NCT ID	Phase
1	Comparison of Two Insertion Techniques of Proseal Laryngeal Mask Airway by Unskilled Personnel in Children	Unknown status	NCT01191619
2	A Pilot Study to Evaluate the Safety and Efficacy of the Hypoglossal Nerve Stimulator in Adolescents With Down Syndrome and Obstructive Sleep Apnea	Recruiting	NCT02344108

Search NIH Clinical Center for Macroglossia

Genetic Tests for Macroglossia

Sources:
²⁷GTR
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Genetic tests related to Macroglossia:

id	Genetic test	Affiliating Genes
1	Macroglossia²⁷

Anatomical Context for Macroglossia

Sources:
³⁶MalaCards
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MalaCards organs/tissues related to Macroglossia:

³⁶

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

Publications for Macroglossia

Sources:
⁵⁷PubMed
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Articles related to Macroglossia:

(show top 50) (show all 261)

id	Title	Authors	Year
1	Macroglossia. (28168951)	Singh Bakshi S.... Bhattacharjee S.	2017
2	Intermittent hypoxia causes mandibular growth retardation and macroglossia in growing rats. (28153167)	Hosomichi J.... Ono T.	2017
3	Symmetric Lipomatosis Arising in the Tongue Presenting as Macroglossia and Articulatory Disorder. (27413566)	Kudoh M.... Ishii Y.	2016
4	Surgical management of macroglossia secondary to amyloidosis. (27068724)	Gadiwalla Y.... Praveen P.	2016
5	Macroglossia in advanced amyotrophic lateral sclerosis. (26816340)	Matsuda C.... Kinoshita M.	2016
6	A case of symmetrical lipomatosis of the tongue presenting as macroglossia. (27427539)	Cristofaro M.G.... Giudice M.	2016
7	Macroglossia and periorbital ecchymosis. (26905771)	DA-az MejA-a N.M.... Caixal G.	2016
8	Application of Maxillomandibular Fixation for Management of Traumatic Macroglossia: A Case Report. (26576243)	Shanti R.M.... Ziccardi V.B.	2015
9	Massive macroglossia secondary to angioedema: a review and presentation of a case. (25883001)	Kovach T.A.... Triplett R.G.	2015
10	Macroglossia Associated with Lymphangioma: Surgical Management of An Interesting Case. (26672763)	Nagpal T.... Mahajan A.	2015
11	Macroglossia. (25824898)	Benavente-FernA!ndez A.... Romero-Ortiz A.	2015
12	13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia. (26365529)	Poreau B.... Coutton C.	2015
13	Successful Treatment of Macroglossia Due to Lymphatic Malformation With Sirolimus. (25902840)	Yesil S.... Sahin G.	2015
14	Current surgical management of macroglossia. (26101871)	Klosterman T.... Tatum S.A.	2015
15	Life-threatening macroglossia after posterior fossa surgery: a surgical positioning problem? (25654956)	Vermeersch G.... van de Heyning P.	2014
16	Sensory changes after tongue reduction for macroglossia. (22901656)	Matsumoto K.... Omura K.	2014
17	Macroglossia as the only presenting feature of amyloidosis due to MGUS. (23799910)	Tsourdi E.... Hofbauer L.C.	2014
18	Methylprednisolone sodium succinate-associated macroglossia in a critically ill patient. (23386601)	Igneri L.A.... Whitman C.B.	2013
19	Orthodontic treatment of a patient with Duchenne muscular dystrophy and macroglossia: how informed consent was critical to success. (24286912)	Miller J.R.	2013
20	Successful perioperative airway management in a patient with angiomatous macroglossia for laser ablation under general anesthesia. (23619724)	Tani M.... Fukuda K.	2013
21	Congenital macroglossia treated by 2-stage partial glossectomy. (23524740)	Choi J.W.... Kwon T.G.	2013
22	Management of macroglossia in Beckwith-Wiedemann syndrome. (22341741)	Kittur M.A.... Drake D.	2013
23	Tongue reduction for macroglossia in Beckwith Wiedemann syndrome: review and application of new technique. (23041202)	Heggie A.A.... Morgan A.T.	2013
24	Ultrasonography of the tongue in macroglossia - a case report. (26673678)	A9cieszka J.... UrbaA8ska-Krawiec D.	2013
25	Lymphangiomatous macroglossia associated with extensive cervicomediastinal cystic hygromas. (24012214)	Cheng L.H.... Lin Y.S.	2013
26	Macroglossia in amyotrophic lateral sclerosis. (24042440)	McKee H.R.... Kasarskis E.	2013
27	The surgical management of severe macroglossia in systemic AL amyloidosis. (22591765)	Cobb A.R.... Lloyd T.W.	2013
28	Surgical treatment of macroglossia caused by systemic primary amyloidosis. (22727361)	Pau M.... KAorcher H.	2013
29	Macroglossia Associated with Brainstem Injury. (24002892)	Iwuchukwu I.... Frank J.	2013
30	Phenytoin induced life threatening macroglossia in a child. (23546362)	Mondal R.... Pan P.P.	2013
31	Symmetrical lipomatosis of the tongue-a rare cause of macroglossia: diagnosis, surgical treatment, and literature review. (23288609)	Vasileiadis I.... Logothetis I.	2013
32	Surgical treatment of congenital true macroglossia. (24381769)	Costa S.A.... Tanabe M.N.	2013
33	Macroglossia and generalized edema not due to hypothyroidism. (22052249)	Alimoglu Y.... Erdamar S.	2012
34	Massive macroglossia after palatoplasty: case report and review of the literature. (21912891)	Junghaenel S.... Teschendorf P.	2012
35	Massive macroglossia developing fast and immediately after endotracheal extubation. (22103631)	Toyama S.... Shimoyama M.	2012
36	Genetic causes of macroglossia: diagnostic approach. (22250026)	Prada C.E.... Hopkin R.J.	2012
37	Surgical management of obstructive sleep apnea in acromegaly with mandibular prognathism and macroglossia: a treatment dilemma. (21824705)	Smith C.B.... Waite P.D.	2012
38	Macroglossia in a child undergoing posterior fossa surgery in sitting position. (22412792)	Chowdhury T.... Rath G.P.	2012
39	The effects of macroglossia on speech: a case study. (21728833)	Mekonnen A.M.	2012
40	Response of glandular organs to experimental macroglossia. (22816101)	Matveev R.S.... Karyshev P.B.	2012
41	Surgical treatment of macroglossia in patients with Beckwith-Wiedemann syndrome: a 20-year experience and review of the literature. (22104000)	Kadouch D.J.... van der Horst C.M.	2012
42	Congenital macroglossia: surgical and orthodontic management. (22583592)	Farronato G.... Maspero C.	2012
43	Lingual angioedema with macroglossia during the treatment of acute ischemic stroke with alteplase. (22399862)	Yayan J.	2012
44	Double stellate tongue reduction: a new method of treatment for macroglossia in patients with Beckwith-wiedemann syndrome. (21407066)	Hettinger P.C.... Denny A.D.	2011
45	Utilization of a modified bite guard for preventing traumatic macroglossia. (21233745)	Karayazgan-Saracoglu B.... Kecik D.	2011
46	Macroglossia associated with 271 bp deletion in exon 50 of dystrophin gene. (21655206)	Malhotra H.S.... Shukla R.	2011
47	Macroglossia due to Systemic Amyloidosis: Is There a Role for Radiotherapy? (21941488)	Thibault I.... ValliA"res I.	2011
48	Three-dimensional computerized tomographic angiography diagnosis and surgical treatment of macroglossia with huge venous malformation: a case report. (21292516)	Zou J.... Zhang Y.	2011
49	Giant macroglossia with persistent nonocclusion in a neonate. (22005373)	Okoro P.E.... Akadiri O.A.	2011
50	Unilateral macroglossia as sole presenting manifestation of internal carotid artery dissection. (21938704)	StA1bgen J.P.	2011

Genes related to Macroglossia

Sources:
²¹GeneCards, ⁵⁰Novoseek
See all MalaCards sources

Genes related to Macroglossia:

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	CDKN1C	Cyclin Dependent Kinase Inhibitor 1C	27.42	Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders (show sections)	20503313, 17638616
2	C1S	Complement C1s	23.37	Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders (show sections)	12635405
3	B2M	Beta-2-Microglobulin	21.57	Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders (show sections)	11411015, 2196475
4	PTEN	Phosphatase And Tensin Homolog	18.30	GeneCards inferred via : Disorders (show sections)
5	COL2A1	Collagen Type II Alpha 1 Chain	18.30	GeneCards inferred via : Disorders (show sections)
6	NSD1	Nuclear Receptor Binding SET Domain Protein 1	18.30	GeneCards inferred via : Disorders (show sections)
7	TGDS	TDP-Glucose 4,6-Dehydratase	18.30	GeneCards inferred via : Disorders (show sections)
8	COL11A1	Collagen Type XI Alpha 1 Chain	18.30	GeneCards inferred via : Disorders (show sections)
9	COL9A1	Collagen Type IX Alpha 1 Chain	18.30	GeneCards inferred via : Disorders (show sections)
10	COL11A2	Collagen Type XI Alpha 2 Chain	18.30	GeneCards inferred via : Disorders (show sections)
11	TNDM	Diabetes Mellitus, Transient Neonatal	16.98	GeneCards inferred via : Disorders, Publications (show sections)
12	CSF3	Colony Stimulating Factor 3	16.98	GeneCards inferred via : Disorders, Publications (show sections)

Variations for Macroglossia

Expression for genes affiliated with Macroglossia

Sources:
¹⁸Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Macroglossia.

Pathways for genes affiliated with Macroglossia

Sources:
³⁴KEGG, ⁴²NCBI BioSystems Database, ⁵⁵PathCards, ⁵⁸QIAGEN, ⁶⁰Reactome
See all MalaCards sources

Pathways related to Macroglossia according to GeneCards Suite gene sharing:

id	Super pathways	Score	Top Affiliating Genes
1	PI3K-Akt signaling pathway³⁴	8.8	COL2A1, COL9A1, CSF3, PTEN
2	Collagen chain trimerization⁶⁰ Show member pathways Assembly of collagen fibrils and other multimeric structures⁶⁰ Collagen formation⁶⁰ Protein digestion and absorption³⁴ Collagen biosynthesis and modifying enzymes⁶⁰ Crosslinking of collagen fibrils⁶⁰ Blood Coagulation Cascade⁵⁸ Intrinsic Prothrombin Activation Pathway⁵⁸ Anchoring fibril formation⁶⁰	8.5	COL11A1, COL11A2, COL2A1, COL9A1
3	Degradation of the extracellular matrix⁶⁰ Show member pathways Extracellular matrix organization⁶⁰ Collagen degradation⁶⁰	8.5	COL11A1, COL11A2, COL2A1, COL9A1
4	Phospholipase-C Pathway⁵⁸ Show member pathways PTEN Pathway⁵⁸	8.2	COL11A1, COL11A2, COL2A1, COL9A1, PTEN
5	Focal Adhesion³⁴ ⁴² Show member pathways Focal adhesion³⁴ HGF Pathway⁵⁸ Integrin-mediated Cell Adhesion⁴²	8.2	COL11A1, COL11A2, COL2A1, COL9A1, PTEN

GO Terms for genes affiliated with Macroglossia

Sources:
¹⁹Gene Ontology
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Cellular components related to Macroglossia according to GeneCards Suite gene sharing:

id	Name	GO ID	Score	Top Affiliating Genes
1	collagen type XI trimer	GO:0005592	10.2	COL11A1, COL11A2
2	collagen trimer	GO:0005581	9.3	COL11A1, COL11A2, COL2A1, COL9A1
3	endoplasmic reticulum lumen	GO:0005788	9.0	B2M, COL11A1, COL11A2, COL2A1, COL9A1
4	proteinaceous extracellular matrix	GO:0005578	8.5	COL11A1, COL11A2, COL2A1, COL9A1
5	extracellular region	GO:0005576	7.7	B2M, C1S, COL11A1, COL11A2, COL2A1, COL9A1

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

(show all 13)

id	Name	GO ID	Score	Top Affiliating Genes
1	cartilage condensation	GO:0001502	10.4	COL11A1, COL2A1
2	heart morphogenesis	GO:0003007	10.3	COL11A1, COL2A1
3	proteoglycan metabolic process	GO:0006029	10.3	COL11A1, COL2A1
4	chondrocyte differentiation	GO:0002062	10.2	COL11A2, COL2A1
5	extracellular matrix organization	GO:0030198	9.8	COL11A1, COL2A1, COL9A1
6	cartilage development	GO:0051216	9.7	COL11A1, COL11A2, COL2A1
7	collagen catabolic process	GO:0030574	9.7	COL11A1, COL11A2, COL2A1
8	collagen fibril organization	GO:0030199	9.7	COL11A1, COL11A2, COL2A1
9	skeletal system development	GO:0001501	9.7	CDKN1C, COL11A2, COL2A1
10	ossification	GO:0001503	9.7	COL11A1, COL11A2, COL2A1
11	sensory perception of sound	GO:0007605	9.6	COL11A1, COL11A2, COL2A1
12	tissue homeostasis	GO:0001894	9.5	COL11A2, COL2A1
13	skeletal system morphogenesis	GO:0048705	9.4	COL11A1, COL11A2, COL2A1

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

id	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix structural constituent	GO:0005201	9.2	COL11A1, COL11A2, COL2A1
2	extracellular matrix structural constituent conferring tensile strength	GO:0030020	9.0	COL11A2, COL2A1, COL9A1