MCID: MCR037
MIFTS: 44

Macroglossia

Categories: Fetal diseases, Gastrointestinal diseases, Oral diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Macroglossia

MalaCards integrated aliases for Macroglossia:

Name: Macroglossia 57 20 58 29 54 6 32
Congenital Macroglossia 20 58
Enlarged Tongue 20
Giant Tongue 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
macroglossia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 153630
ICD10 32 Q38.2
MESH via Orphanet 45 C531735 D008260
ICD10 via Orphanet 33 Q38.2
UMLS via Orphanet 71 C0009677 C0024421
MedGen 41 C0024421

Summaries for Macroglossia

GARD : 20 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.

MalaCards based summary : Macroglossia, also known as congenital macroglossia, is related to stickler syndrome, type i and cleft palate, isolated. An important gene associated with Macroglossia is DPYD (Dihydropyrimidine Dehydrogenase), and among its related pathways/superpathways is G-protein signaling_Rap2B regulation pathway. The drug Gliclazide has been mentioned in the context of this disorder. Affiliated tissues include tongue, heart and bone, and related phenotypes are macroglossia and hypothyroidism

OMIM® : 57 Macroglossia is an abnormal enlargement of the tongue. It is commonly observed with type 2 glycogen storage disease (232300), neurofibromatosis (162200), congenital hypothyroidism, and the Beckwith-Wiedemann syndrome (130650). (153630) (Updated 05-Apr-2021)

Wikipedia : 73 Macroglossia is the medical term for an unusually large tongue. Severe enlargement of the tongue can... more...

Related Diseases for Macroglossia

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

(show top 50) (show all 202)
# Related Disease Score Top Affiliating Genes
1 stickler syndrome, type i 31.6 COL2A1 COL11A1
2 cleft palate, isolated 29.9 NSD1 COL9A1 COL2A1 COL11A1
3 beckwith-wiedemann syndrome 11.6
4 simpson-golabi-behmel syndrome 11.1
5 osteoglophonic dysplasia 11.0
6 chondrodysplasia, blomstrand type 11.0
7 kleefstra syndrome 1 11.0
8 muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue 11.0
9 congenital muscular dystrophy type 1a 11.0
10 mental retardation, x-linked, syndromic, cabezas type 11.0
11 cowden syndrome 1 10.8
12 hypothyroidism, congenital, nongoitrous, 2 10.8
13 cantu syndrome 10.8
14 mannosidosis, alpha b, lysosomal 10.8
15 mucopolysaccharidosis, type vi 10.8
16 mucopolysaccharidosis, type vii 10.8
17 proteasome-associated autoinflammatory syndrome 1 10.8
18 schinzel-giedion midface retraction syndrome 10.8
19 mucopolysaccharidosis, type ii 10.8
20 stickler syndrome, type ii 10.8
21 scheie syndrome 10.8
22 anauxetic dysplasia 1 10.8
23 stickler syndrome, type iv 10.8
24 catel-manzke syndrome 10.8
25 kleefstra syndrome 10.8
26 diabetes mellitus, 6q24-related transient neonatal 10.8
27 bamforth syndrome 10.8
28 central congenital hypothyroidism 10.8
29 amyloidosis 10.6
30 gigantism 10.5
31 hypoglycemia 10.4
32 lymphangioma 10.3
33 al amyloidosis 10.3
34 kohler's disease 10.3 COL2A1 COL11A1
35 myeloma, multiple 10.3
36 rare lymphatic malformation 10.3
37 autosomal recessive stickler syndrome 10.2 COL9A1 COL11A1
38 vitreoretinal degeneration 10.2 COL2A1 COL11A1
39 hypochondrogenesis 10.2 COL9A1 COL2A1
40 omphalocele 10.2
41 dysphagia 10.2
42 fibrochondrogenesis 1 10.2 COL9A1 COL11A1
43 hypothyroidism 10.2
44 angioedema 10.2
45 pectus carinatum 10.2 NSD1 COL2A1
46 wilms tumor predisposition 10.2 NSD1 CDKN1C
47 retinal perforation 10.2 COL2A1 COL11A1
48 spondyloepiphyseal dysplasia congenita 10.2 COL9A1 COL2A1
49 down syndrome 10.2
50 umbilical hernia 10.2

Graphical network of the top 20 diseases related to Macroglossia:



Diseases related to Macroglossia

Symptoms & Phenotypes for Macroglossia

Human phenotypes related to Macroglossia:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000158
2 hypothyroidism 58 31 very rare (1%) Very rare (<4-1%) HP:0000821
3 neurofibromas 58 31 very rare (1%) Very rare (<4-1%) HP:0001067
4 abnormal hepatic glycogen storage 58 31 very rare (1%) Very rare (<4-1%) HP:0500030

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Mouth:
isolated macroglossia

Clinical features from OMIM®:

153630 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Macroglossia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.1 B2M CDKN1C COL11A1 COL2A1 COL9A1 DPYD

MGI Mouse Phenotypes related to Macroglossia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.1 B2M COL11A1 COL2A1 DPYD PTEN TGDS

Drugs & Therapeutics for Macroglossia

Drugs for Macroglossia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Gliclazide Approved Phase 2 21187-98-4 3475

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II Study of Isatuximab (SAR650984) (NSC-795145) for Patients With Previously Treated AL Amyloidosis Active, not recruiting NCT03499808 Phase 2
2 Biomarker for Maroteaux-Lamy Disease: BioMaroteaux-Lamy AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT01458613
3 Biomarker for Pompe Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGI-CAL PROTOCOL Active, not recruiting NCT01457443

Search NIH Clinical Center for Macroglossia

Genetic Tests for Macroglossia

Genetic tests related to Macroglossia:

# Genetic test Affiliating Genes
1 Macroglossia 29

Anatomical Context for Macroglossia

MalaCards organs/tissues related to Macroglossia:

40
Tongue, Heart, Bone, Thyroid, Pituitary, Bone Marrow, Kidney

Publications for Macroglossia

Articles related to Macroglossia:

(show top 50) (show all 1196)
# Title Authors PMID Year
1
Autosomal dominant congenital macroglossia: further delineation of the syndrome. 57 61
7917123 1994
2
Autosomal dominant macroglossia in two unrelated families. 57 61
3770748 1986
3
CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms. 54 61
20503313 2010
4
Syndromes and disorders associated with omphalocele (I): Beckwith-Wiedemann syndrome. 61 54
17638616 2007
5
Angioedema of the tongue due to acquired C1 esterase inhibitor deficiency. 61 54
12635405 2003
6
Nodular macroglossia with combined light chain and beta-2 microglobulin deposition in a long-term dialysis patient. 54 61
11411015 2001
7
Macroglossia and amyloidoma of the buttock: evidence of systemic involvement in dialysis amyloid. 54 61
2196475 1990
8
The otolaryngologic manifestations of Sotos syndrome 1: A systematic review. 61
33640723 2021
9
Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy. 61
33606663 2021
10
Spontaneous bilateral peri-orbital purpura: an important clinical sign of primary systemic amyloidosis. 61
33795269 2021
11
Dialysis-related amyloidosis associated with a novel β2-microglobulin variant. 61
32875920 2021
12
A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report. 61
33789733 2021
13
Tongue and Upper Airway Dimensions: A Comparative Study between Three Popular Brachycephalic Breeds. 61
33801521 2021
14
Shoulder pad and macroglossia: "two signs of AL amyloidosis". 61
33768946 2021
15
Phenobarbital-Associated Macroglossia. 61
33687030 2021
16
Trisomy 5p with bilateral congenital diaphragmatic hernia: a case report. 61
33750440 2021
17
Perioperative anesthetic management of reductive glossoplasty in a patient with Beckwith-Wiedemann syndrome. 61
32417109 2021
18
Prenatally diagnosed omphaloceles: Report of 92 cases and association with Beckwith-Wiedemann syndrome. 61
33687072 2021
19
The diagnostic potential of targeted imaging of the fetal pancreas. 61
33778984 2021
20
Investigation of (epi)genotype causes and follow-up manifestations in the patients with classical and atypical phenotype of Beckwith-Wiedemann spectrum. 61
33704912 2021
21
Anesthetic Management of Patients Undergoing Open Suboccipital Surgery. 61
33563388 2021
22
Reduction Glossectomy for Macroglossia in Beckwith-Wiedemann Syndrome: Is Post-Op Intubation Necessary? 61
33550827 2021
23
Familial Beckwith-Wiedemann syndrome: Prenatal manifestation and a possible expansion of the phenotype. 61
33421606 2021
24
Oral Complications of ICU Patients with COVID-19: Case-Series and Review of Two Hundred Ten Cases. 61
33557130 2021
25
Case Report: Post-operative Angioedema After a Laryngeal Mask Airway Application. 61
33791318 2021
26
Anaesthesiological approach to the floppy child. 61
33432795 2021
27
Recurrent macroglossia requiring tracheostomy after haemorrhagic basal ganglia stroke. 61
33431468 2021
28
Ethosuximide induced macroglossia and oropharyngeal edema. 61
33218689 2021
29
Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome. 61
33513760 2021
30
AL amyloidosis presenting as inflammatory polyarthritis: a case report. 61
33269662 2021
31
Systemic Amyloidosis Caused by Monoclonal Immunoglobulins: Soft Tissue and Vascular Involvement. 61
33099427 2020
32
Cardiac amyloidosis mimicking acute coronary syndrome: a case report and literature review. 61
33442652 2020
33
Localized Placental Mesenchymal Dysplasia in Monochorionic Diamniotic Twin Placenta with Beckwith-Wiedemann Syndrome. 61
33356737 2020
34
Long-term longitudinal evalutation of mandibular growth in patients with Beckwith-Wiedemann Syndrome treated and not treated with glossectomy. 61
33087311 2020
35
PPP1R21-related syndromic intellectual disability: Report of an adult patient and review. 61
32985083 2020
36
A combined orthodontic / orthognathic approach in the management of obstructive sleep apnoea: Balancing treatment efficacy and facial aesthetics. 61
32883153 2020
37
Orofacial features and pediatric dentistry in the long-term management of Infantile Pompe Disease children. 61
33228748 2020
38
Congenital infiltrating lipomatosis of the face with lingual mucosal neuromas associated with a PIK3CA mutation. 61
32770747 2020
39
Large hemangioma of the tongue. 61
33753673 2020
40
Tongue Reduction for Macroglossia. 61
33235175 2020
41
Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing. 61
33115931 2020
42
Phenotypes and epigenetic errors in patients with Beckwith-Wiedemann syndrome in China. 61
33209728 2020
43
Differences in the Incidence of Pathologic Lesions on the Oral Mucosa in Patients Undergoing Hemodialysis vs Renal Organ Transplant Recipients Subjected to Long-term Pharmacologic Immunosuppressive Therapy. 61
32222390 2020
44
Risk factors for residual mouth breathing in children who had completely resolved obstructive sleep apnea after adenotonsillectomy. 61
32535860 2020
45
Significant role of magnetic resonance imaging for the diagnosis and evaluation of cardiac amyloidosis in primary light chain amyloidosis. 61
32779613 2020
46
Genetics of Arthrogryposis and Macroglossia in Piemontese Cattle Breed. 61
32987629 2020
47
Macroglossia following intracranial injury. 61
32319027 2020
48
Achondroplasia: A form of disproportionate dwarfism - A case report. 61
33433522 2020
49
Diffuse infantile hepatic hemangiomas in a patient with Beckwith-Wiedemann syndrome: A new association? 61
32573107 2020
50
Orodental, Facial and Clinical Features of Mutation-Positive Noonan Syndrome: A Monocentric Study. 61
33167018 2020

Variations for Macroglossia

ClinVar genetic disease variations for Macroglossia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DPYD NM_000110.4(DPYD):c.1905+1G>A SNV Pathogenic 432 rs3918290 GRCh37: 1:97915614-97915614
GRCh38: 1:97450058-97450058
2 GNS NM_002076.4(GNS):c.1594C>G (p.Pro532Ala) SNV Uncertain significance 598985 rs202228620 GRCh37: 12:65110586-65110586
GRCh38: 12:64716806-64716806

Expression for Macroglossia

Search GEO for disease gene expression data for Macroglossia.

Pathways for Macroglossia

Pathways related to Macroglossia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.83 CSF3 COL9A1 COL2A1 COL11A1

GO Terms for Macroglossia

Cellular components related to Macroglossia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen trimer GO:0005581 9.33 COL9A1 COL2A1 COL11A1
2 endoplasmic reticulum lumen GO:0005788 9.26 COL9A1 COL2A1 COL11A1 B2M
3 extracellular region GO:0005576 9.23 PTEN GNS CSF3 COL9A1 COL2A1 COL11A1

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.26 PTEN CDKN1C
2 cartilage condensation GO:0001502 9.16 COL2A1 COL11A1
3 proteoglycan metabolic process GO:0006029 8.96 COL2A1 COL11A1
4 negative regulation of epithelial cell proliferation GO:0050680 8.92 PTEN LIMS2 CDKN1C B2M

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.13 COL9A1 COL2A1 COL11A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.8 COL9A1 COL2A1 COL11A1

Sources for Macroglossia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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