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MCID: MCR037
MIFTS: 45

Macroglossia

Categories: Fetal diseases, Gastrointestinal diseases, Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Macroglossia

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MalaCards integrated aliases for Macroglossia:

Name: Macroglossia 56 52 58 29 54 6 32
Congenital Macroglossia 52 58
Enlarged Tongue 52
Giant Tongue 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
macroglossia:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Gastrointestinal diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 153630
ICD10 32 Q38.2
MESH via Orphanet 44 C531735 D008260
ICD10 via Orphanet 33 Q38.2
UMLS via Orphanet 72 C0009677 C0024421
MedGen 41 C0024421
Sources

Summaries for Macroglossia

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NIH Rare Diseases : 52 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 cleft palate, isolated and beckwith-wiedemann syndrome. 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 : 56 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)

Wikipedia : 74 Macroglossia is the medical term for an unusually large tongue. Severe enlargement of the tongue can... more...

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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 208)
# Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 30.1 NSD1 COL9A1 COL2A1 COL11A1
2 beckwith-wiedemann syndrome 12.3
3 simpson-golabi-behmel syndrome 11.3
4 mental retardation, x-linked, syndromic, cabezas type 11.3
5 osteoglophonic dysplasia 11.2
6 chondrodysplasia, blomstrand type 11.2
7 kleefstra syndrome 1 11.2
8 muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue 11.2
9 glycogen storage disease 11.1
10 lama2-related muscular dystrophy 11.1
11 neurological manifestations of pompe disease 11.1
12 stickler syndrome, type i 11.1
13 cowden syndrome 1 11.1
14 hypothyroidism, congenital, nongoitrous, 2 11.1
15 cantu syndrome 11.1
16 mannosidosis, alpha b, lysosomal 11.1
17 mucopolysaccharidosis, type vi 11.1
18 mucopolysaccharidosis, type vii 11.1
19 proteasome-associated autoinflammatory syndrome 1 11.1
20 schinzel-giedion midface retraction syndrome 11.1
21 mucopolysaccharidosis, type ii 11.1
22 stickler syndrome, type ii 11.1
23 scheie syndrome 11.1
24 anauxetic dysplasia 1 11.1
25 stickler syndrome, type iv 11.1
26 catel-manzke syndrome 11.1
27 kleefstra syndrome 11.1
28 diabetes mellitus, 6q24-related transient neonatal 11.1
29 bamforth syndrome 11.1
30 central congenital hypothyroidism 11.1
31 amyloidosis 10.8
32 gigantism 10.6
33 hypoglycemia 10.5
34 myeloma, multiple 10.5
35 lymphangioma 10.4
36 al amyloidosis 10.4
37 rare lymphatic malformation 10.4
38 omphalocele 10.4
39 kohler's disease 10.4 COL2A1 COL11A1
40 autosomal recessive stickler syndrome 10.4 COL9A1 COL11A1
41 vitreoretinal degeneration 10.3 COL2A1 COL11A1
42 hypothyroidism 10.3
43 angioedema 10.3
44 dysphagia 10.3
45 vitreous syneresis 10.3 COL2A1 COL11A1
46 hypochondrogenesis 10.3 COL9A1 COL2A1
47 pectus carinatum 10.3 NSD1 COL2A1
48 retinal perforation 10.3 COL2A1 COL11A1
49 wilms tumor predisposition 10.3 NSD1 CDKN1C
50 sleep apnea 10.3

Graphical network of the top 20 diseases related to Macroglossia:



Diseases related to Macroglossia
Sources

Symptoms & Phenotypes for Macroglossia

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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:

56
Mouth:
isolated macroglossia

Clinical features from OMIM:

153630

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.1 B2M COL11A1 COL2A1 DPYD PTEN TGDS
Sources

Drugs & Therapeutics for Macroglossia

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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 Effects of the Prone and the Sitting Positions on the Brain Oxygenation in Posterior Fossa Surgery Unknown status NCT02933749
3 Effect of Different Surgical Positions on the Cerebral Venous Drainage: an Ultrasound Study on Healthy Volunteers Completed NCT02002494
4 F.R.O.N.T. Formula for Pre-operative Airway Assessment and Documentation Completed NCT02313168
5 Role of Sleep Apnea in the Neuropsychological Function in Down Syndrome People Completed NCT03267602
6 Impact of a Physical Rehabilitation Program on the Quality of Life of Patients With Acromegaly: a Non-randomized Clinical Trial. Recruiting NCT03710499
7 Biomarker for Maroteaux-Lamy Disease: BioMaroteaux-Lamy AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT01458613
8 Biomarker for Pompe Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGI-CAL PROTOCOL Active, not recruiting NCT01457443
9 A Pilot Study to Evaluate the Safety and Efficacy of the Hypoglossal Nerve Stimulator in Adolescents and Young Adults With Down Syndrome and Obstructive Sleep Apnea Active, not recruiting NCT02344108
10 Effect of Different Surgical Positions on the Cerebral Venous Drainage: an Ultrasound Study on Neurosurgical Patients Withdrawn NCT02002507

Search NIH Clinical Center for Macroglossia

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Genetic Tests for Macroglossia

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Genetic tests related to Macroglossia:

# Genetic test Affiliating Genes
1 Macroglossia 29
Sources

Anatomical Context for Macroglossia

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MalaCards organs/tissues related to Macroglossia:

40
Tongue, Heart, Bone, Thyroid, Pituitary, Brain, Kidney
Sources

Publications for Macroglossia

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Articles related to Macroglossia:

(show top 50) (show all 1145)
# Title Authors PMID Year
1
Autosomal dominant congenital macroglossia: further delineation of the syndrome. 56 61
7917123 1994
2
Autosomal dominant macroglossia in two unrelated families. 61 56
3770748 1986
3
CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms. 61 54
20503313 2010
4
Syndromes and disorders associated with omphalocele (I): Beckwith-Wiedemann syndrome. 54 61
17638616 2007
5
Angioedema of the tongue due to acquired C1 esterase inhibitor deficiency. 54 61
12635405 2003
6
Nodular macroglossia with combined light chain and beta-2 microglobulin deposition in a long-term dialysis patient. 61 54
11411015 2001
7
Macroglossia and amyloidoma of the buttock: evidence of systemic involvement in dialysis amyloid. 54 61
2196475 1990
8
Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa). 61
32406590 2020
9
An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology. 61
32426895 2020
10
Imaging features of mucopolysaccharidoses in the head and neck. 61
32251975 2020
11
Lymphangioma of the Dorsal Tongue. 61
31823215 2020
12
Risk factors for residual mouth breathing in children who had completely resolved obstructive sleep apnea after adenotonsillectomy. 61
32535860 2020
13
Children with Down syndrome and mild OSA: treatment with medication versus observation. 61
32043964 2020
14
Diffuse infantile hepatic hemangiomas in a patient with Beckwith-Wiedemann syndrome: A new association? 61
32573107 2020
15
Perioperative anesthetic management of reductive glossoplasty in a patient with Beckwith-Wiedemann syndrome. 61
32417109 2020
16
Kagami-Ogata syndrome: an important differential diagnosis to Beckwith-Wiedemann syndrome. 61
31994200 2020
17
The Utility of Early Tongue Reduction Surgery for Macroglossia in Beckwith-Wiedemann Syndrome. 61
32221229 2020
18
Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study. 61
32349794 2020
19
Macroglossia following intracranial injury. 61
32319027 2020
20
When to Suspect a Diagnosis of Amyloidosis. 61
32340017 2020
21
The impact of tongue dimension on air volume in brachycephalic dogs. 61
31361346 2020
22
Acromegaly and ultrasound: how, when and why? 61
31502218 2020
23
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
24
Intralesional Sclerotherapy with Bleomycin in Lymphatic Malformation of Tongue an Institutional Experience and Outcomes. 61
32139985 2020
25
Spontaneous and Dramatic Improvements in Open Bite Deformity Secondary to Large Maxillofacial Venous Malformation With Macroglossia After Sclerotherapy and Laser Therapy. 61
31977686 2020
26
Epigenetic Abnormalities of 11p15.5 Region in Beckwith-Wiedemann Syndrome - A Report of Eight Indian Cases. 61
31997239 2020
27
You "Cantu": Multidisciplinary Collaboration Resulting in Successful Orthognathic Surgery. 61
31401848 2020
28
Alternative Transoral Application of Nasopharyngeal Airways. 61
32191507 2020
29
The Effects of Patient Positioning on the Outcome During Posterior Cranial Fossa and Pineal Region Surgery. 61
32232048 2020
30
Assessment of Activity of Daily Life in Mucopolysaccharidosis Type II Patients with Hematopoietic Stem Cell Transplantation. 61
31963134 2020
31
Comprehensive treatment of massive macroglossia due to venous and lymphatic malformations. 61
31974007 2020
32
Rare Course of Bilateral Congenital Diaphragmatic Hernia Treated Thoracoscopically-Case Report. 61
32411638 2020
33
Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene. 61
31804259 2020
34
Generalized Lymphangioma of the Tongue: A Rare Cause of Macroglossia. 61
31896901 2020
35
Macroglossia in primary lateral sclerosis: a case report. 61
31307259 2019
36
A Study of Application of Preoperative Clinical Predictors of Difficult Laryngeal Exposure for Microlaryngoscopy: The Laryngoscore in the Indian Population. 61
31750107 2019
37
Lymphangioma of the tongue associated with open bite: case report. 61
31850775 2019
38
Sleep Quality in a Case-control Subset of Trisomy 21 and Typically Developing Children in Riyadh, Kingdom of Saudi Arabia. 61
32381844 2019
39
Systematic review of oral and craniofacial findings in patients with Fabry disease or Pompe disease. 61
31405600 2019
40
Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management. 61
31147633 2019
41
Down syndrome as a cause of abnormalities in the craniofacial region: A systematic literature review. 61
31778604 2019
42
Reduction glossectomy of congenital macroglossia due to lymphangioma. 61
31658796 2019
43
Simpson-Golabi-Behmel syndrome type 1 with subclinical hypothyroidism: A case report. 61
31651874 2019
44
Craniofacial Interventions in Children. 61
31353139 2019
45
An Unusual Cause of CPAP Intolerance. 61
31596220 2019
46
Hypothyroidism and hyperthyroidism. 61
31577260 2019
47
Actinomycosis Presenting as Macroglossia: Case Report and Review of Literature. 61
30244331 2019
48
Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome. 61
31339634 2019
49
Prenatal imaging throughout gestation in Beckwith-Wiedemann syndrome. 61
30784096 2019
50
Cardiac Amyloidosis: A Case Series from India. 61
31562714 2019
Sources

Variations for Macroglossia

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ClinVar genetic disease variations for Macroglossia:

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

Expression for Macroglossia

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Search GEO for disease gene expression data for Macroglossia.
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Pathways for Macroglossia

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Pathways related to Macroglossia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
G-protein signaling_Rap2B regulation pathway 22
9.83 CSF3 COL9A1 COL2A1 COL11A1
Sources

GO Terms for Macroglossia

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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

Sources for Macroglossia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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