MCID: MCR037
MIFTS: 42

Macroglossia malady

Categories: Rare diseases, Gastrointestinal diseases, Fetal diseases

Aliases & Classifications for Macroglossia

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Sources:
45NIH Rare Diseases, 47Novoseek, 51Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Macroglossia:

Name: Macroglossia 45 47
Congenital Macroglossia 45 51
 
Enlarged Tongue 45
Giant Tongue 45

Characteristics:



Classifications:



External Ids:

Orphanet51 2430
ICD10 via Orphanet28 Q38.2
MESH via Orphanet37 C531735
UMLS via Orphanet66 C0009677
ICD1027 Q38.2

Summaries for Macroglossia

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NIH Rare Diseases:45 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 macroglossia/tongue protrusion/proeminent/hypertrophic. 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, t cells and lung, and related mouse phenotype hearing/vestibular/ear.

Wikipedia:68 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 226)
idRelated DiseaseScoreTop Affiliating Genes
1stickler syndrome, type ii30.9COL11A1, COL2A1
2beckwith-wiedemann syndrome11.9
3mental retardation, x-linked, syndromic 1511.3
4kleefstra syndrome10.4
5marshall syndrome10.3COL11A1, COL2A1
6deafness, autosomal dominant 1310.3COL11A2, COL2A1
7trichuriasis10.3COL11A1, COL2A1
8dystrophies primarily involving the retinal pigment epithelium10.3COL11A1, COL2A1
9hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome10.3COL11A1, COL9A1
10vitreoretinochoroidopathy dominant10.3COL11A1, COL2A1
11smed strudwick type10.3COL11A1, COL2A1
12urachus cancer10.3COL11A1, COL2A1
13stickler syndrome10.3COL11A1, COL2A1
14endotheliitis10.2
15stickler syndrome, type iii10.2
16stickler syndrome, type iv10.2
17cowden syndrome 110.2
18stickler syndrome, type i10.2
19catel-manzke syndrome10.2
20mannosidosis, alpha-, types i and ii10.2
21simpson-golabi-behmel syndrome10.2
22achondrogenesis, type ii or hypochondrogenesis10.2COL11A1, COL2A1
23lymphoma10.2
24weissenbacher-zweymuller syndrome10.2COL11A1, COL11A2, COL2A1
25delayed sleep phase syndrome10.2COL11A2, COL2A1
26myasthenic syndrome, congenital, 2a, slow-channel10.2COL11A1, COL11A2, COL2A1
27gingival fibromatosis10.2COL11A1, COL11A2, COL9A1
28splenic marginal zone lymphoma10.2COL11A1, COL11A2, COL9A1
29skeleto cardiac syndrome with thrombocytopenia10.1COL11A2, COL2A1
30breast cancer10.1
31obesity10.1
32hepatitis10.1
33leukemia10.1
34neuronitis10.1
35thymus gland disease10.1COL11A1, COL2A1, COL9A1
36spondylocamptodactyly10.1B2M, COL2A1
37respiratory syncytial virus infectious disease10.1COL2A1, COL9A1
38darier disease10.1COL11A1, COL2A1
39schizophrenia10.0
40myocardial infarction10.0
41asthma10.0
42renal cell carcinoma10.0
43hemophilia b10.0
44acute myocardial infarction10.0
45arthritis10.0
46b-cell lymphomas10.0
47crohn's disease10.0
48sleep apnea10.0
49body dysmorphic disorder10.0
50pyelonephritis10.0

Graphical network of the top 20 diseases related to Macroglossia:



Diseases related to macroglossia

Symptoms for Macroglossia

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Symptoms:

 51
  • 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 macroglossia HP:0000158

Drugs & Therapeutics for Macroglossia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1A Pilot Study to Evaluate the Safety and Efficacy of the Hypoglossal Nerve Stimulator in Adolescents With Down Syndrome and Obstructive Sleep ApneaRecruitingNCT02344108
2Comparison of Two Insertion Techniques of Proseal Laryngeal Mask Airway by Unskilled Personnel in ChildrenRecruitingNCT01191619

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Genetic Tests for Macroglossia

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Anatomical Context for Macroglossia

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MalaCards organs/tissues related to Macroglossia:

33
Tongue, T cells, Lung, Breast, Endothelial, Bone, Brain

Animal Models for Macroglossia or affiliated genes

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MGI Mouse Phenotypes related to Macroglossia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.2COL11A1, COL11A2, COL2A1, COL9A1

Publications for Macroglossia

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Articles related to Macroglossia:

(show top 50)    (show all 252)
idTitleAuthorsYear
1
'Ring-within-a-ring' appearance: morphological clue to topical steroid abuse in dermatophytosis. (26856975)
2016
2
Anti-tumor activity of selective inhibitors of XPO1/CRM1-mediated nuclear export in diffuse malignant peritoneal mesothelioma: the role of survivin. (25948791)
2015
3
Long-term outcome of physiologic VDD pacing versus non-physiologic VVI pacing in dogs with high-grade atrioventricular block. (25726416)
2015
4
MiR-128, a key regulator of oncogenic properties]. (25916109)
2015
5
FBW7 upregulation enhances cisplatin cytotoxicity in non- small cell lung cancer cells. (24377525)
2013
6
Wnt/I^-Catenin Signaling in Alzheimer's Disease. (24365184)
2013
7
Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families. (23211700)
2013
8
Testing for growth hormone deficiency in adults: doing without growth hormone-releasing hormone. (22596248)
2012
9
Long-term outcome of central toxic keratopathy after photorefractive keratectomy. (21926568)
2011
10
Pretransplant serum CXCL9 and CXCL10 levels fail to predict acute rejection in kidney transplant recipients receiving induction therapy. (21475065)
2011
11
Seasonal variation of enteropathogens in infants and preschoolers with acute diarrhea in western Mexico. (20706147)
2010
12
Systemic IGF-I administration attenuates the inhibitory effect of chronic arthritis on gastrocnemius mass and decreases atrogin-1 and IGFBP-3. (20519361)
2010
13
Induction of regulatory T cells by macrophages is dependent on production of reactive oxygen species. (20861446)
2010
14
Acute polyradiculoneuropathy following wasp sting. (19934578)
2009
15
A dilemma in male engagement in preventive services: adolescent males' knowledge and attitudes toward testicular cancer and testicular self-exam. (19477726)
2009
16
Marantic endocarditis as an unusual paraneoplastic syndrome of head and neck squamous cell carcinoma. (19442361)
2009
17
Application of heme oxygenase-1, carbon monoxide and biliverdin for the prevention of intestinal ischemia/reperfusion injury. (18385824)
2008
18
PP2B and PP1alpha cooperatively disrupt 7SK snRNP to release P-TEFb for transcription in response to Ca2+ signaling. (18483222)
2008
19
Oncogenic hypophosphataemic osteomalacia: biomarker roles of fibroblast growth factor 23, 1,25-dihydroxyvitamin D3 and lymphatic vessel endothelial hyaluronan receptor 1. (18230836)
2008
20
Catatonia and neuroleptic malignant syndrome. (19034757)
2008
21
Plasma brain-derived neurotrophic factor daily variations in men: correlation with cortisol circadian rhythm. (18434373)
2008
22
Caspases activation in hyperthermia-induced stimulation of TRAIL apoptosis. (18330721)
2008
23
The dexamethasone-suppressed corticotropin-releasing hormone stimulation test and the desmopressin test to distinguish Cushing's syndrome from pseudo-Cushing's states. (17223996)
2007
24
Transcript overexpression of the MBD2 and MBD4 genes in CD4+ T cells from systemic lupus erythematosus patients. (17360956)
2007
25
Laparoscopic splenopexy for a wandering spleen in a child. (17484662)
2007
26
Akt regulates nuclear/cytoplasmic localization of tuberin. (16862180)
2007
27
Neuroanatomical correlates of memory deficits in tuberous sclerosis complex. (16603714)
2007
28
Comparative effect of topical application of lindane and permethrin on oxidative stress parameters in adult scabies patients. (17884035)
2007
29
Targeting bone metastasis in prostate cancer with endothelin receptor antagonists. (17062717)
2006
30
Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa. (16803959)
2006
31
The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations. (15071792)
2004
32
Outcome of patients undergoing laparoscopic adrenalectomy for primary hyperaldosteronism. (15554273)
2004
33
Acetohydroxyacid synthase from Mycobacterium avium and its inhibition by sulfonylureas and imidazolinones. (12818195)
2003
34
The multidrug resistance-associated protein 3 (MRP3) is associated with a poor outcome in childhood ALL and may account for the worse prognosis in male patients and T-cell immunophenotype. (12816874)
2003
35
Synthesis and cyclic AMP phosphodiesterase 4 isoenzyme inhibitory activity of heterocycle condensed purines. (12237530)
2002
36
Valproic acid, trichostatin and their combination with hemin preferentially enhance gamma-globin gene expression in human erythroid liquid cultures. (11454524)
2001
37
The relationship of insulin resistance measured by reliable indexes to coronary artery disease risk factors and outcomes--a systematic review. (11468646)
2001
38
Identification of receptor genes in renal cell carcinoma associated with angiogenesis by differential hybridization technique. (10208873)
1999
39
Epidermal mosaicism producing localised acne: somatic mutation in FGFR2. (9728990)
1998
40
Characteristics of primary infection of a European human immunodeficiency virus type 1 clade B isolate in chimpanzees. (9880002)
1998
41
Laser-induced thermotherapy for severe twin-twin transfusion syndrome. (9313081)
1997
42
Abnormalities of neuropeptides and neural markers in the esophagus of fetal rats with adriamycin-induced esophageal atresia. (9349759)
1997
43
The effect of peripheral blood mononuclear cell products from children with nephrotic syndrome on thromboxane A2 metabolism]. (7619008)
1995
44
Malignant melanoma metastasis to brain: role of degradative enzymes and responses to paracrine growth factors. (7964976)
1994
45
Activation of apoptosis by serum deprivation in a teratocarcinoma cell line: inhibition by L-acetylcarnitine. (8416796)
1993
46
Intestinal, hepatic and renal production of thiobarbituric acid reactive substances and myeloperoxidase activity after temporary aortic occlusion and reperfusion. (1653385)
1991
47
Endomyocardial fibrosis with aortic, mitral, and tricuspid valve involvement. (7125775)
1982
48
Dandy-Walker syndrome: clinico-pathological features and re-evaluation of modes of treatment. (888088)
1977
49
The role of visual fields and visual acuity in the treatment of chromophobe adenoma of the pituitary gland. A case report. (4423942)
1974
50
Treatment of enterobiasis with pyrantel pamoate. (4884784)
1969

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 trimerGO:00055819.9COL11A1, COL11A2

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:000602910.4COL11A1, COL2A1
2cartilage condensationGO:000150210.4COL11A1, COL2A1
3tissue homeostasisGO:000189410.3COL11A2, COL2A1
4skeletal system developmentGO:000150110.2CDKN1C, COL2A1
5cartilage developmentGO:005121610.2COL11A1, COL2A1
6collagen fibril organizationGO:003019910.1COL11A1, COL11A2, COL2A1
7chondrocyte differentiationGO:00020629.9COL11A2, COL2A1, COL9A1
8collagen catabolic processGO:00305749.6COL11A1, COL2A1, COL9A1
9extracellular matrix organizationGO:00301989.5COL11A1, COL11A2, COL2A1
10sensory perception of soundGO:00076059.5COL11A1, COL11A2, COL2A1
11negative regulation of epithelial cell proliferationGO:00506809.5CDKN1C, PTEN
12extracellular matrix disassemblyGO:00226179.1COL11A1, COL11A2, COL2A1, COL9A1

Sources for Macroglossia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet