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

Summaries for Macroglossia

Sources:
⁴⁶OMIM, ⁶⁴Wikipedia, ³²MalaCards
See all sources

OMIM:⁴⁶ Macroglossia is an abnormal enlargement of the tongue. It is commonly observed with type 2 glycogen storage disease...153630 more...

MalaCards based summary: Macroglossia, also known as congenital macroglossia, is related to beckwith-wiedemann syndrome and multiple myeloma, 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)). The compounds gemtuzumab ozogamicin and mesna have been mentioned in the context of this disorder. Affiliated tissues include tongue, eye and cortex.

Wikipedia:⁶⁴ Macroglossia is the medical term for an unusually large tongue. Severe enlargement of the tongue can... more...

Aliases & Classifications for Macroglossia

Sources:
⁴²NIH Rare Diseases, ⁴⁴Novoseek, ⁴⁸Orphanet, ⁴⁶OMIM, ⁶¹UMLS, ³⁵MESH via Orphanet, ²⁷ICD10 via Orphanet, ⁶²UMLS via Orphanet, ²⁶ICD10
See all sources

Macroglossia, Aliases & Descriptions:

Name: Macroglossia ⁴² ⁴⁴

Congenital Macroglossia ⁴² ⁴⁸ ⁴⁶

Enlargement, Nos ⁶¹

Enlarged Tongue ⁴²

Giant Tongue ⁴²

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Gastrointestinal diseases

ICD10: ²⁷ ²⁶

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations of the digestive system

Other congenital malformations of tongue, mouth and pharynx

Macroglossia

Orphanet: ⁴⁸

Developmental anomalies during embryogenesis

External Ids:

OMIM⁴⁶ 153630

MESH via Orphanet³⁵ C531735

ICD10 via Orphanet²⁷ Q38.2

UMLS via Orphanet⁶² C0009677

ICD10²⁶ Q38.2

Related Diseases for Macroglossia

Sources:
¹⁸GeneCards, ¹⁹GeneDecks
See all sources

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

(show top 50) (show all 117)

id	Related Disease	Score	Top Affiliating Genes
1	beckwith-wiedemann syndrome	30.9	CDKN1C, NSD1
2	multiple myeloma	30.4	CSF3, B2M
3	amyloidosis	10.6
4	gigantism	10.4
5	myeloma	10.4
6	capillary leak syndrome	10.4	C1S
7	hypoglycemia	10.2
8	muscular dystrophy	10.2
9	myeloid leukemia	10.2	CSF3
10	diabetes mellitus	10.2
11	neonatal diabetes mellitus	10.2
12	hypothyroidism	10.2
13	lymphangioma	10.2
14	transient neonatal diabetes mellitus	10.2
15	hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia	10.2
16	acromegaly	10.1
17	carpal tunnel syndrome	10.1
18	neurofibromatosis	10.1
19	kleefstra syndrome	10.1
20	al amyloidosis	10.1
21	omphalocele	10.1
22	hematologic cancer	10.1	CDKN1C, CSF3
23	septic shock	10.1	CSF3, C1S
24	myelodysplastic syndromes	10.1	CSF3, CDKN1C
25	acute kidney failure	10.1	B2M, C1S
26	chronic myeloid leukemia	10.1	CDKN1C, CSF3
27	arthritis	10.0
28	duchenne muscular dystrophy	10.0
29	down syndrome	10.0
30	cleft palate	10.0
31	obstructive sleep apnea	10.0
32	angioedema	10.0
33	cervicitis	10.0
34	lipomatosis	10.0
35	myositis	10.0
36	proteinuria	10.0
37	purpura	10.0
38	sleep apnea	10.0
39	cowden syndrome 1	10.0
40	mannosidosis, alpha-, types i and ii	10.0
41	paternal uniparental disomy of chromosome 6	10.0
42	cystic lymphangioma	10.0
43	acute lymphoblastic leukemia	10.0	CDKN1C, CSF3
44	deficiency anemia	10.0	B2M, CSF3
45	lung cancer	9.9	C1S, CSF3, CDKN1C
46	amyotrophic lateral sclerosis	9.9
47	facioscapulohumeral muscular dystrophy	9.9
48	mucopolysaccharidosis ii	9.9
49	mucopolysaccharidosis vi	9.9
50	pemphigus vulgaris	9.9

Graphical network of the top 20 diseases related to Macroglossia:

Symptoms for Macroglossia

Sources:
⁴⁶OMIM, ⁵⁸The Human Phenotype Ontology, ⁴⁸Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

153630

Clinical features from OMIM:

153630

Symptoms:

⁴⁸

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

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials, ⁶¹UMLS, ⁴⁰NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Macroglossia

Search NIH Clinical Center for Macroglossia

Genetic Tests for Macroglossia

Anatomical Context for Macroglossia

Sources:
³²MalaCards
See all sources

MalaCards organs/tissues related to Macroglossia:

³²

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

Animal Models for Macroglossia or affiliated genes

Publications for Macroglossia

Sources:
⁵¹PubMed
See all sources

Articles related to Macroglossia:

(show top 50) (show all 244)

id	Title	Authors	Year
1	Surgical treatment of congenital true macroglossia. (24381769)	Costa S.A.... Tanabe M.N.	2013
2	Congenital macroglossia treated by 2-stage partial glossectomy. (23524740)	Choi J.W.... Kwon T.G.	2013
3	Macroglossia in amyotrophic lateral sclerosis. (24042440)	McKee H.R.... Kasarskis E.	2013
4	Congenital macroglossia: surgical and orthodontic management. (22583592)	Farronato G.... Maspero C.	2012
5	Macroglossia. (21554274)	Topouzelis N.... Kolokitha O.E.	2011
6	Macroglossia - not always AL amyloidosis. (21401321)	Cowan A.J.... Sanchorawala V.	2011
7	A 77-year-old female with macroglossia. (21444941)	van Munster B.C.... Baas M.C.	2011
8	Cervicofacial cavernous venous malformation with massive macroglossia: novel surgical treatment with harmonic scalpel. (20116727)	Joseph P.V.... Nair V.B.	2010
9	Anaesthetic consideration in macroglossia due to lymphangioma of tongue: a case report. (20640084)	Tewari A.... Katyal S.	2009
10	A modified keyhole technique for correction of macroglossia. (19050540)	Kaufman Y.... Edmonds J.	2008
11	Macroglossia and carpal tunnel syndrome associated with multiple myeloma: a case report. (16285349)	Kelly M.... Moran J.	2005
12	Exuberant macroglossia in a patient with primary systemic amyloidosis. (15971439)	Moura C.G.... Souza S.P.	2005
13	Acquired macroglossia due to lopinavir/ritonavir treatment. (15610408)	Vritsali E.... Antoniades D.	2005
14	Episodic macroglossia as the sole manifestation of angiotensin-converting enzyme inhibitor-induced angioedema. (15053206)	Elinav E.... Nisanewitz V.	2004
15	Macroglossia combined with lymphangioma: a case report. (12597690)	Guelmann M.... Katz J.	2003
16	Use of the intubating laryngeal mask in failed intubation associated with amyloid macroglossia. (12173233)	Smart N.G.... Jacobs P.	2002
17	Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency. (12031620)	Quijano-Roy S.... Estournet B.	2002
18	Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities. (11038325)	Das S.... Schnur R.E.	2000
19	Technique for uniform reduction of macroglossia. (10876252)	Davalbhakta A.... Lamberty B.G.	2000
20	Orthodontic-surgical approach in a case of severe open-bite associated with functional macroglossia. (10982938)	Medeiros P.J.... Rocha R.	2000
21	The treatment of macroglossia before the 20th century. (9950110)	Ring M.E.	1999
22	Diagnosis of macroglossia and indications for reduction glossectomy. (8760843)	Wolford L.M.... Cottrell D.A.	1996
23	Acute transient unilateral macroglossia following use of a LMA. (8665646)	Maltby J.R.... Price B.	1996
24	Posttraumatic macroglossia complicated by hyaluronidase injection. (8637758)	Dort J.C.	1996
25	The use of leeches in a case of post-operative life-threatening macroglossia. (7798005)	Smeets I.M.... Engelberts I.	1995
26	Transient neonatal diabetes mellitus with ketoacidosis and macroglossia. (17590652)	Dib R.... Mahfoud G.W.	1995
27	Pathologic quiz case 1. Lymphangiomatous macroglossia. (1986756)	Reiner S.A.... Min K.W.	1991
28	The efficacy of tongue resection in treatment of symptomatic macroglossia in the child. (2143060)	Siddiqui A.... Pensler J.M.	1990
29	Macroglossia: clinical considerations. (2637234)	Dolan E.A.... Mason R.M.	1989
30	Macroglossia and ankyloglossia in Beckwith-Wiedemann syndrome. (3422394)	Patterson G.T.... Davis J.U.	1988
31	Massive macroglossia, amyloidosis and myeloma. (3150784)	Jacobs P.... King H.S.	1988
32	Postoperative macroglossia causing airway obstruction. (4030241)	Denneny J.C.	1985
33	Early tongue resection for Beckwith-Wiedemann macroglossia. (3994256)	Kveim M.... Gruer B.	1985
34	Computed tomography of macroglossia secondary to amyloidosis. (6736364)	Manco L.G.... Hanafee W.N.	1984
35	Chronic alveolar hypoventilation secondary to macroglossia in the Beckwith-Wiedemann syndrome. (7133819)	Smith D.F.... Flynn M.	1982
36	The exomphalos, macroglossia, gigantism (E.M.G.) syndrome: a case report and review of the literature. (650125)	Theetranont C.... Phatharakulwanich S.	1978
37	Macroglossia in the Beckwith-Wiedemann syndrome. (855081)	Grace J.B.... Kornblut A.D.	1977
38	Lymphangiomatous macroglossia. (1053377)	Dinerman W.S.... Myers E.N.	1976
39	Macroglossia--a positional complication. (4812721)	McAllister R.G.	1974
40	Omphalocoele, macroglossia and neonatal hypoglycemia (Beckwith's syndrome): two cases of Kenyan newborns. (4779525)	Wells D.W.... Cox P.S.	1973
41	Amyloidosis: report of a case presenting with macroglossia. (4726108)	Hicks K.A.... Dickie W.R.	1973
42	Exomphalos-macroglossia-gigantism (visceromegaly) syndrome. (The Beckwith-Wiedemann syndrome). (5058514)	McNamara T.O.... Clark R.E.	1972
43	Congenital macroglossia. (5548986)	Gupta O.P.	1971
44	Partial glossectomy for macroglossia. (5278785)	Allison M.L.... Wallace W.R.	1971
45	The macroglossia of Beckwith's syndrome. (5435867)	Arons M.S.... Grunt J.A.	1970
46	Exomphalos-macroglossia-gigantism syndrome in Jamaican infants. (5434588)	Thorburn M.J.... Smith-Read E.H.	1970
47	Exomphalos with macroglossia: a study of eleven cases. (4865835)	Irving I.M.	1967
48	Angular cheilosis and macroglossia; report of a case. (13224194)	Baden E.... PIERCE H.E.	1955
49	Amyloid macroglossia. (20288320)	Weber F.P.... COOKE R.T.	1947
50	Specimen of Congenital Macroglossia. (19986296)	Maxwell J.	1928

Genes related to Macroglossia

Sources:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals
See all sources

Genes related to Macroglossia:

- Elite gene

id	Symbol	Description	Score	Implication
1	CDKN1C	cyclin-dependent kinase inhibitor 1C (p57, Kip2)	22.04	GeneCards inferred via : Disorders (show sections)
2	C1S	complement component 1, s subcomponent	18.04	GeneCards inferred via : Disorders (show sections)
3	B2M	beta-2-microglobulin	14.04	GeneCards inferred via : Publications, Disorders (show sections)
4	NSD1	nuclear receptor binding SET domain protein 1	9.94	GeneCards inferred via : Disorders (show sections)
5	CSF3	colony stimulating factor 3 (granulocyte)	5.94	GeneCards inferred via : Publications (show sections)

Products for genes related to Macroglossia disease:

id	Company	Proteins	Lysates	Antibodies	Kits and Assays
1	Antibodies-online	5	-	5	5
2	Novus Biologicals	5	3	5	-

Variations for Macroglossia

Expression for genes affiliated with Macroglossia

Sources:
²BioGPS, ¹⁶Gene Expression Omnibus DataSets
See all sources

Expression patterns in normal tissues for genes affiliated with Macroglossia

Search GEO for disease gene expression data for Macroglossia.

Pathways for genes affiliated with Macroglossia

Compounds for genes affiliated with Macroglossia

Sources:
⁵⁰PharmGKB, ⁴⁴Novoseek, ¹²DrugBank, ³BitterDB
See all sources

Compounds related to Macroglossia according to GeneCards/GeneDecks:

(show all 13)

id	Compound	Score	Top Affiliating Genes
1	gemtuzumab ozogamicin⁵⁰ ⁴⁴ ¹²	11.7	CSF3, C1S
2	mesna⁴⁴	9.6	CSF3, B2M
3	2-chlorodeoxyadenosine⁴⁴	9.6	B2M, CSF3
4	ifosfamide⁴⁴ ¹²	10.5	CSF3, B2M
5	methimazole⁴⁴ ³ ¹²	11.5	CSF3, B2M
6	txb2⁴⁴	9.5	C1S, B2M
7	zidovudine⁴⁴ ⁵⁰ ¹²	11.4	CSF3, B2M
8	vincristine⁴⁴ ⁵⁰ ¹²	11.3	B2M, CSF3
9	valine⁴⁴	9.3	CSF3, B2M
10	adriamycin⁴⁴	9.2	CSF3, B2M
11	rituximab⁴⁴ ⁵⁰ ¹²	11.1	CSF3, B2M, C1S
12	cyclophosphamide⁴⁴ ⁵⁰ ¹²	11.0	CSF3, B2M
13	cycloheximide⁴⁴	9.0	CDKN1C, CSF3, B2M

GO Terms for genes affiliated with Macroglossia

Sources:
¹⁷Gene Ontology
See all sources

Biological processes related to Macroglossia according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cytokine-mediated signaling pathway	GO:019221	9.3	CSF3, B2M

Products for genes affiliated with Macroglossia

Antibodies
Proteins
Lysates

Antibodies
Proteins
Kits and Assays

Sources for Macroglossia

¹antibodies-online

²BioGPS

³BitterDB

⁴CDC

⁵Cell Signaling Technology

⁶ClinicalTrials

⁷Clinvar

⁸dbSNP

⁹Disease Ontology

¹⁰diseasecard

¹¹DISEASES

¹²DrugBank

¹³EMD Millipore

¹⁴ExPASy

¹⁵FMA

¹⁶Gene Expression Omnibus DataSets

¹⁷Gene Ontology

¹⁸GeneCards

¹⁹GeneDecks

²⁰GeneReviews

²¹GeneTests

²²Genetics Home Reference

²³GTR

²⁴HGMD

²⁵HMDB

²⁶ICD10

²⁷ICD10 via Orphanet

²⁸ICD9CM

²⁹IUPHAR

³⁰KEGG

³¹LifeMap Discovery®

³²MalaCards

³³MedlinePlus

³⁴MeSH

³⁵MESH via Orphanet

³⁶MGI

³⁷NCBI BioSystems Database

³⁸NCBI Bookshelf

³⁹NCIt

⁴⁰NDF-RT

⁴¹NIH Clinical Center

⁴²NIH Rare Diseases

⁴³NINDS

⁴⁴Novoseek

⁴⁵Novus Biologicals

⁴⁶OMIM

⁴⁷OMIM via Orphanet

⁴⁸Orphanet

⁴⁹PathCards

⁵⁰PharmGKB

⁵¹PubMed

⁵²QIAGEN

⁵³R&D Systems

⁵⁴Reactome

⁵⁵SinoBiological

⁵⁶SNOMED-CT

⁵⁷SNOMED-CT via Orphanet

⁵⁸The Human Phenotype Ontology

⁵⁹Thomson Reuters

⁶⁰Tocris Bioscience

⁶¹UMLS

⁶²UMLS via Orphanet

⁶³UniProtKB/Swiss-Prot

⁶⁴Wikipedia

MCID: MCR037 MIFTS: 47	Macroglossia malady Rare diseases, Gastrointestinal diseases, Fetal diseases categories
5 symptoms, 5 genes, 6 tissues, 117 related diseases, clinical trials Download this MalaCard Expand all tables

Macroglossia malady