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

Summaries for Macroglossia

Sources:
⁶³Wikipedia, ⁴⁶OMIM, ³²MalaCards
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Wikipedia:⁶³ Macroglossia is the medical term for an unusually large tongue. Severe enlargement of the tongue can... more...

MalaCards: Macroglossia, also known as congenital macroglossia, is related to arthritis and cleft palate, and has symptoms including macroglossia/tongue protrusion/proeminent/hypertrophicand autosomal dominant inheritance. An important gene associated with Macroglossia is CDKN1C (cyclin-dependent kinase inhibitor 1C (p57, Kip2)), and among its related pathways are Lysine degradation and Focal Adhesion. The compounds pentosidine and txb2 have been mentioned in the context of this disorder. Affiliated tissues include tongue, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

Description from OMIM:⁴⁶ 153630

Aliases & Classifications for Macroglossia

Sources:
⁴²NIH Rare Diseases, ⁴⁴Novoseek, ⁴⁸Orphanet, ⁴⁶OMIM, ³⁵MESH via Orphanet, ²⁶ICD10 via Orphanet, ⁵⁷SNOMED-CT via Orphanet, ⁶¹UMLS via Orphanet, ²⁵ICD10
See all sources

Classifications:

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

ICD10: ²⁶ ²⁵

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations of the digestive system

Other congenital malformations of tongue, mouth and pharynx

Macroglossia

Aliases & Descriptions:

macroglossia ⁴² ⁴⁴

congenital macroglossia ⁴² ⁴⁸ ⁴⁶

enlarged tongue ⁴²

giant tongue ⁴²

External Ids:

OMIM⁴⁶ 153630

MESH via Orphanet³⁵ C531735

ICD10 via Orphanet²⁶ Q38.2

SNOMED-CT via Orphanet⁵⁷ 270516002

UMLS via Orphanet⁶¹ C0009677

ICD10²⁵ Q38.2

Related Diseases for Macroglossia

Sources:
¹⁷GeneCards, ¹⁸GeneDecks
See all sources

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

(show top 50) (show all 126)

id	Related Disease	Score	Top Affiliating Genes
1	arthritis	29.9	COL2A1, B2M
2	cleft palate	29.9	COL2A1, COL11A2, COL11A1
3	beckwith-wiedemann syndrome	10.5
4	amyloidosis	10.5
5	myeloma	10.3
6	hypoglycemia	10.2
7	muscular dystrophy	10.2
8	neonatal diabetes mellitus	10.1
9	diabetes mellitus	10.1
10	hypothyroidism	10.1
11	lymphangioma	10.1
12	multiple myeloma	10.1
13	hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia	10.1
14	neurofibromatosis	10.1
15	carpal tunnel syndrome	10.1
16	acromegaly	10.1
17	kleefstra syndrome	10.1
18	duchenne muscular dystrophy	10.0
19	down syndrome	10.0
20	angioedema	10.0
21	cervicitis	10.0
22	lipomatosis	10.0
23	myositis	10.0
24	proteinuria	10.0
25	purpura	10.0
26	cowden syndrome 1	10.0
27	mannosidosis, alpha-, types i and ii	10.0
28	hypercalcemia	10.0	B2M
29	capillary leak syndrome	10.0	C1S
30	multiple epiphyseal dysplasia	10.0	COL9A1
31	connective tissue disease	10.0	C1S
32	cystic lymphangioma	10.0
33	blindness	10.0	COL2A1
34	pseudoachondroplasia	10.0	COL9A1
35	omphalocele	10.0	CDKN1C
36	weissenbacher-zweymuller syndrome	10.0	COL11A2, COL2A1
37	otospondylomegaepiphyseal dysplasia	10.0	COL11A2, COL2A1
38	marshall syndrome	10.0	COL11A1
39	chondrosarcoma	10.0	COL11A2
40	vitreoretinal dystrophy	10.0	COL11A1
41	myelodysplastic syndromes	10.0	CSF3, CDKN1C
42	osteochondrodysplasia	10.0	COL2A1, COL11A2
43	short stature	10.0	NSD1, COL2A1
44	deficiency anemia	10.0	B2M, CSF3
45	osteoarthritis	10.0	COL2A1, COL11A2, COL9A1
46	vitreous syneresis	10.0	COL11A1, COL2A1
47	retinal detachment	10.0	COL2A1, COL11A1
48	sensorineural hearing loss	10.0	COL11A2, COL11A1
49	acute kidney failure	10.0	C1S, B2M
50	non-hodgkin lymphoma	10.0	C1S, B2M, CSF3

Graphical network of the top 20 diseases related to Macroglossia:

Clinical Features for Macroglossia

Sources:
⁴⁶OMIM, ⁴⁸Orphanet
See all sources

Clinical features from OMIM:

153630

Clinical synopsis from OMIM:

153630

Symptoms:

⁴⁸

macroglossia/tongue protrusion/proeminent/hypertrophic

autosomal dominant inheritance

Drugs & Therapeutics for Macroglossia

Sources:
⁵CenterWatch, ⁴¹NIH Clinical Center, ⁶ClinicalTrials, ⁶⁰UMLS, ⁴⁰NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Macroglossia

Drug clinical trials:

Search ClinicalTrials for Macroglossia

Search NIH Clinical Center for Macroglossia

Search CenterWatch for Macroglossia

Genetic Tests for Macroglossia

Anatomical Context for Macroglossia

Sources:
³²MalaCards
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MalaCards organs/tissues related to Macroglossia:

³²

Tongue

Animal Models for Macroglossia or affiliated genes

Sources:
³⁶MGI
See all sources

MGI Mouse Phenotypes related to Macroglossia:

³⁶

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hearing/vestibular/ear phenotype	MP:0005377	8.8	COL11A1, COL2A1, COL9A1
2	limbs/digits/tail phenotype	MP:0005371	8.5	COL9A1, COL2A1, COL11A1, CDKN1C
3	skeleton phenotype	MP:0005390	8.0	CDKN1C, COL11A1, COL9A1, COL11A2, COL2A1
4	immune system phenotype	MP:0005387	7.3	CDKN1C, COL2A1, COL11A1, COL9A1, CSF3, B2M

Publications for Macroglossia

Genes related to Macroglossia

Sources:
¹⁷GeneCards, ⁴⁵Novus Biologicals, ³¹LifeSpan BioSciences, Inc.
See all sources

Genes related to Macroglossia:

id	Symbol	Description	Score	Implication
1	CDKN1C	cyclin-dependent kinase inhibitor 1C (p57, Kip2)	21.01	GeneCards inferred : Disorders (show sections)
2	C1S	complement component 1, s subcomponent	19.01	GeneCards inferred : Disorders (show sections)
3	B2M	beta-2-microglobulin	17.01	GeneCards inferred : Publications, Disorders (show sections)
4	COL11A2	collagen, type XI, alpha 2	14.96	GeneCards inferred : Disorders (show sections)
5	COL2A1	collagen, type II, alpha 1	12.96	GeneCards inferred : Disorders (show sections)
6	COL9A1	collagen, type IX, alpha 1	10.96	GeneCards inferred : Disorders (show sections)
7	NSD1	nuclear receptor binding SET domain protein 1	8.96	GeneCards inferred : Disorders (show sections)
8	EHMT1	euchromatic histone-lysine N-methyltransferase 1	6.96	GeneCards inferred : Disorders (show sections)
9	COL11A1	collagen, type XI, alpha 1	4.96	GeneCards inferred : Disorders (show sections)
10	CSF3	colony stimulating factor 3 (granulocyte)	2.96	GeneCards inferred : Publications, Disorders (show sections)

Products for genes related to Macroglossia disease:

id	Company	Proteins	Lysates	Antibodies
1	Novus Biologicals	9	9	10
2	LSBio	-	-	10

Genetic Variations for Macroglossia

Expression for genes affiliated with Macroglossia

Sources:
¹BioGPS, ¹⁵Gene 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

Sources:
²⁹KEGG, ³⁷NCBI BioSystems Database, ⁵³Reactome, ⁵¹QIAGEN
See all sources

Pathways related to Macroglossia according to GeneCards/GeneDecks:

(show all 11)

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Lysine degradation²⁹	9.3	NSD1, EHMT1
2	Focal Adhesion³⁷ Hide members Focal adhesion²⁹	8.9	COL11A1, COL2A1, COL11A2
3	Amoebiasis²⁹	8.9	COL11A2, COL2A1, COL11A1
4	Protein digestion and absorption²⁹	8.4	COL9A1, COL11A1, COL2A1, COL11A2
5	Degradation of the extracellular matrix⁵³ Hide members Degradation of collagen⁵³	8.4	COL9A1, COL11A2, COL2A1, COL11A1
6	Integrin Pathway⁵¹ Hide members Inhibition of Angiogenesis by TSP1⁵¹ Transendothelial Migration of Leukocytes⁵¹ FAK1 Signaling⁵¹ GnRH Signaling⁵¹ UPA-UPAR Pathway⁵¹	8.4	COL11A1, COL9A1, COL11A2, COL2A1
7	PTEN Pathway⁵¹ Hide members Phospholipase-C Pathway⁵¹	8.4	COL11A1, COL11A2, COL9A1, COL2A1
8	Non-integrin membrane-ECM interactions⁵³ Hide members ECM proteoglycans⁵³ ECM-receptor interaction²⁹ Integrin cell surface interactions⁵³	8.4	COL11A1, COL2A1, COL11A2, COL9A1
9	Collagen biosynthesis and modifying enzymes⁵³ Hide members Blood Coagulation Cascade⁵¹ Extracellular matrix organization⁵³ Intrinsic Prothrombin Activation Pathway⁵¹ Collagen formation⁵³ Assembly of collagen fibrils and other multimeric structures⁵³	8.4	COL9A1, COL2A1, COL11A1, COL11A2
10	PI3K-Akt signaling pathway²⁹	8.3	COL11A1, COL2A1, COL11A2, CSF3
11	Rho Family GTPases⁵¹ Hide members Molecular Mechanisms of Cancer⁵¹ ERK Signaling⁵¹ ILK Signaling⁵¹ MAPK Signaling⁵¹	7.9	COL11A1, COL2A1, COL11A2, COL9A1, CSF3

Compounds for genes affiliated with Macroglossia

Sources:
⁴⁴Novoseek, ¹¹DrugBank, ⁴⁹PharmGKB, ²⁸IUPHAR, ²⁴HMDB, ²BitterDB
See all sources

Compounds related to Macroglossia according to GeneCards/GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	pentosidine⁴⁴	9.9	COL2A1, B2M
2	txb2⁴⁴	9.8	B2M, C1S
3	mesna⁴⁴	9.8	B2M, CSF3
4	gemtuzumab ozogamicin⁴⁴ ¹¹	10.8	CSF3, C1S
5	2-chlorodeoxyadenosine⁴⁴	9.6	B2M, CSF3
6	rituximab⁴⁴ ⁴⁹ ¹¹	11.5	B2M, CSF3, C1S
7	ifosfamide⁴⁴ ¹¹	10.5	CSF3, B2M
8	l-lysine²⁸ ¹¹ ²⁴	11.4	EHMT1, NSD1
9	methimazole⁴⁴ ² ¹¹	11.3	B2M, CSF3
10	cycloheximide⁴⁴	9.0	COL2A1, CSF3, B2M, CDKN1C

GO Terms for genes affiliated with Macroglossia

Sources:
¹⁶Gene Ontology
See all sources

Cellular components related to Macroglossia according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	collagen type XI	GO:005592	9.0	COL11A1, COL11A2
2	endoplasmic reticulum lumen	GO:005788	8.0	COL11A1, COL2A1, COL11A2, COL9A1, B2M
3	extracellular region	GO:005576	7.7	C1S, COL11A1, COL2A1, COL11A2, COL9A1, B2M

Biological processes related to Macroglossia according to GeneCards/GeneDecks:

(show all 9)

id	Name	GO ID	Score	Top Affiliating Genes
1	tissue homeostasis	GO:001894	9.3	COL9A1, COL2A1
2	proteoglycan metabolic process	GO:006029	9.3	COL2A1, COL11A1
3	cartilage condensation	GO:001502	9.2	COL2A1, COL11A1
4	histone methylation	GO:016571	9.2	EHMT1, NSD1
5	collagen fibril organization	GO:030199	9.0	COL11A2, COL2A1, COL11A1
6	sensory perception of sound	GO:007605	8.9	COL11A1, COL2A1, COL11A2
7	collagen catabolic process	GO:030574	8.6	COL9A1, COL11A2, COL2A1, COL11A1
8	extracellular matrix disassembly	GO:022617	8.6	COL11A1, COL2A1, COL11A2, COL9A1
9	extracellular matrix organization	GO:030198	8.5	COL11A1, COL2A1, COL11A2, COL9A1

Molecular functions related to Macroglossia according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix structural constituent conferring tensile strength	GO:030020	9.2	COL9A1, COL11A2, COL2A1

Products for genes affiliated with Macroglossia

Antibodies
Proteins
Lysates

Antibodies

Sources for Macroglossia

¹BioGPS

²BitterDB

³CDC

⁴Cell Signaling Technology

⁵CenterWatch

⁶ClinicalTrials

⁷dbSNP

⁸Disease Ontology

⁹diseasecard

¹⁰DISEASES

¹¹DrugBank

¹²EMD Millipore

¹³ExPASy

¹⁴FMA

¹⁵Gene Expression Omnibus DataSets

¹⁶Gene Ontology

¹⁷GeneCards

¹⁸GeneDecks

¹⁹GeneReviews

²⁰GeneTests

²¹Genetics Home Reference

²²GTR

²³HGMD

²⁴HMDB

²⁵ICD10

²⁶ICD10 via Orphanet

²⁷ICD9CM

²⁸IUPHAR

²⁹KEGG

³⁰LifeMap Discovery™

³¹LifeSpan BioSciences, Inc.

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

⁴⁹PharmGKB

⁵⁰PubMed

⁵¹QIAGEN

⁵²R&D Systems

⁵³Reactome

⁵⁴SABiosciences

⁵⁵SinoBiological

⁵⁶SNOMED-CT

⁵⁷SNOMED-CT via Orphanet

⁵⁸Thomson Reuters

⁵⁹Tocris Bioscience

⁶⁰UMLS

⁶¹UMLS via Orphanet

⁶²UniProtKB/Swiss-Prot

⁶³Wikipedia

MCID: MCR037 MIFTS: 41	Macroglossia malady Gastrointestinal diseases, Fetal diseases categories
2 symptoms, 10 genes, 1 tissue, 126 related diseases, clinical trials.

Macroglossia malady