MCID: MCR037
MIFTS: 46

Macroglossia

Categories: Rare diseases, Gastrointestinal diseases, Fetal diseases

Aliases & Classifications for Macroglossia

MalaCards integrated aliases for Macroglossia:

Name: Macroglossia 57 53 29 55
Congenital Macroglossia 53 59
Enlarged Tongue 53
Giant Tongue 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
macroglossia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 153630
Orphanet 59 ORPHA2430
UMLS via Orphanet 74 C0009677
ICD10 via Orphanet 34 Q38.2
MESH via Orphanet 45 C531735
MedGen 42 C0024421
ICD10 33 Q38.2
SNOMED-CT via HPO 69 263681008 25273001

Summaries for Macroglossia

NIH Rare Diseases : 53 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 beckwith-wiedemann syndrome and mental retardation, x-linked, syndromic, cabezas type. An important gene associated with Macroglossia is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C), and among its related pathways/superpathways are Phospholipase-C Pathway and PI3K-Akt signaling pathway. The drugs Selenium and Methionine have been mentioned in the context of this disorder. Affiliated tissues include tongue, heart and eye, and related phenotype is macroglossia.

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)

Wikipedia : 76 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 102)
# Related Disease Score Top Affiliating Genes
1 beckwith-wiedemann syndrome 12.0
2 mental retardation, x-linked, syndromic, cabezas type 10.9
3 chondrodysplasia, blomstrand type 10.9
4 glycogen storage disease ii 10.8
5 glycogen storage disease 10.8
6 neurological manifestations of pompe disease 10.8
7 stickler syndrome, type i 10.8
8 cowden syndrome 1 10.8
9 osteoglophonic dysplasia 10.8
10 hypothyroidism, congenital, nongoitrous, 2 10.8
11 cantu syndrome 10.8
12 mannosidosis, alpha b, lysosomal 10.8
13 stickler syndrome, type ii 10.8
14 kleefstra syndrome 1 10.8
15 stickler syndrome, type iv 10.8
16 catel-manzke syndrome 10.8
17 simpson-golabi-behmel syndrome 10.8
18 kleefstra syndrome 10.8
19 bamforth syndrome 10.8
20 central congenital hypothyroidism 10.8
21 peripheral resistance to thyroid hormones 10.8
22 marshall syndrome 10.5 COL11A1 COL2A1
23 autosomal recessive stickler syndrome 10.5 COL11A1 COL9A1
24 retinal perforation 10.5 COL11A1 COL2A1
25 otospondylomegaepiphyseal dysplasia 10.5 COL11A1 COL2A1
26 vitreous syneresis 10.5 COL11A1 COL2A1
27 pyle disease 10.5 CDKN1C COL2A1
28 vitreoretinal dystrophy 10.5 COL11A1 COL2A1
29 vitreoretinal degeneration 10.4 COL11A1 COL2A1
30 achondrogenesis, type ii 10.4 COL11A1 COL2A1
31 amyloidosis 10.4
32 hypochondrogenesis 10.3 COL11A1 COL2A1
33 kniest dysplasia 10.3 COL11A1 COL2A1
34 spinal stenosis 10.2 COL2A1 COL9A1
35 stickler syndrome 10.2 COL11A1 COL2A1 COL9A1
36 gigantism 10.2
37 strabismus 10.1 COL11A1 COL2A1 COL9A1
38 myeloma, multiple 10.1
39 spondyloepiphyseal dysplasia congenita 10.1 COL11A1 COL2A1
40 al amyloidosis 10.0
41 lymphangioma 10.0
42 muscular dystrophy 10.0
43 hypoglycemia 10.0
44 diabetes mellitus, transient neonatal, 1 9.9
45 diabetes mellitus 9.9
46 neonatal diabetes mellitus 9.9
47 hypothyroidism 9.9
48 lipomatosis 9.9
49 carpal tunnel syndrome 9.9
50 mononeuropathy of the median nerve, mild 9.9

Graphical network of the top 20 diseases related to Macroglossia:



Diseases related to Macroglossia

Symptoms & Phenotypes for Macroglossia

Symptoms via clinical synopsis from OMIM:

57
Mouth:
isolated macroglossia


Clinical features from OMIM:

153630

Human phenotypes related to Macroglossia:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000158

Drugs & Therapeutics for Macroglossia

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Selenium Approved, Investigational, Vet_approved Not Applicable 7782-49-2
2
Methionine Approved, Nutraceutical Not Applicable 63-68-3 6137
3 Antioxidants Not Applicable
4 Micronutrients Not Applicable
5 Protective Agents Not Applicable
6 Trace Elements Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 S1702 Isatuximab in Treating Patients With Relapsed or Refractory Primary Amyloidosis Recruiting NCT03499808 Phase 2
2 Comparison of Two Insertion Techniques of Proseal Laryngeal Mask Airway by Unskilled Personnel in Children Unknown status NCT01191619 Not Applicable
3 Selenium Supplementation in Pregnancy Completed NCT01465867 Not Applicable
4 A Pilot Study to Evaluate the Hypoglossal Nerve Stimulator in Adolescents With Down Syndrome and Obstructive Sleep Apnea Recruiting NCT02344108 Not Applicable

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:

41
Tongue, Heart, Eye, Trachea, Cortex, Adrenal Cortex

Publications for Macroglossia

Articles related to Macroglossia:

(show top 50) (show all 281)
# Title Authors Year
1
National trends in tongue reduction surgery for macroglossia in children. ( 29395995 )
2018
2
Dysphagia due to macroglossia in a patient with amyloidosis associated with multiple myeloma: A case report. ( 29889980 )
2018
3
Macroglossia in Light-Chain Amyloidosis. ( 29897852 )
2018
4
Severe macroglossia after posterior fossa and craniofacial surgery in children. ( 29301676 )
2018
5
Macroglossia And Amyloidosis. ( 29939317 )
2018
6
Massive Macroglossia After Posterior Cranial Fossa Surgery: A Case Report. ( 29652686 )
2018
7
Neonatal Macroglossia: Demographics, Cost of Care, and Associated Comorbidities. ( 29570380 )
2018
8
Macroglossia, the first manifestation of systemic amyloidosis associated with multiple myeloma. ( 29953958 )
2018
9
Intermittent hypoxia causes mandibular growth retardation and macroglossia in growing rats. ( 28153167 )
2017
10
Angiotensin-converting Enzyme (ACE) Inhibitor Induced Macroglossia. ( 29327538 )
2017
11
Macroglossia. ( 28168951 )
2017
12
Persistent Acute Onset Macroglossia Treated with Compression Therapy. ( 29085692 )
2017
13
Macroglossia as a presenting feature of multiple myeloma. ( 29026768 )
2017
14
Massive Macroglossia After Posterior Cranial Fossa Surgery: A Case Report. ( 29210720 )
2017
15
Macroglossia During Awake Craniotomy: A Near Miss. ( 29045270 )
2017
16
Unusual Case of a Massive Macroglossia Secondary to Myxedema: A Case Report and Literature Review. ( 28742994 )
2017
17
Understanding and Treating Macroglossia. ( 29799703 )
2016
18
Amyloidosis Presenting as Macroglossia and Restricted Tongue Movement. ( 29148674 )
2016
19
A case of symmetrical lipomatosis of the tongue presenting as macroglossia. ( 27427539 )
2016
20
Macroglossia and periorbital ecchymosis. ( 26905771 )
2016
21
Symmetric Lipomatosis Arising in the Tongue Presenting as Macroglossia and Articulatory Disorder. ( 27413566 )
2016
22
Surgical management of macroglossia secondary to amyloidosis. ( 27068724 )
2016
23
Macroglossia in advanced amyotrophic lateral sclerosis. ( 26816340 )
2016
24
Macroglossia. ( 25824898 )
2015
25
Macroglossia Associated with Lymphangioma: Surgical Management of An Interesting Case. ( 26672763 )
2015
26
Current surgical management of macroglossia. ( 26101871 )
2015
27
Application of Maxillomandibular Fixation for Management of Traumatic Macroglossia: A Case Report. ( 26576243 )
2015
28
Successful Treatment of Macroglossia Due to Lymphatic Malformation With Sirolimus. ( 25902840 )
2015
29
13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia. ( 26365529 )
2015
30
Massive macroglossia secondary to angioedema: a review and presentation of a case. ( 25883001 )
2015
31
Life-threatening macroglossia after posterior fossa surgery: a surgical positioning problem? ( 25654956 )
2014
32
Sensory changes after tongue reduction for macroglossia. ( 22901656 )
2014
33
Macroglossia as the only presenting feature of amyloidosis due to MGUS. ( 23799910 )
2014
34
Ultrasonography of the tongue in macroglossia - a case report. ( 26673678 )
2013
35
Congenital macroglossia treated by 2-stage partial glossectomy. ( 23524740 )
2013
36
Management of macroglossia in Beckwith-Wiedemann syndrome. ( 22341741 )
2013
37
The surgical management of severe macroglossia in systemic AL amyloidosis. ( 22591765 )
2013
38
Surgical treatment of congenital true macroglossia. ( 24381769 )
2013
39
Macroglossia in amyotrophic lateral sclerosis. ( 24042440 )
2013
40
Surgical treatment of macroglossia caused by systemic primary amyloidosis. ( 22727361 )
2013
41
Macroglossia Associated with Brainstem Injury. ( 24002892 )
2013
42
Orthodontic treatment of a patient with Duchenne muscular dystrophy and macroglossia: how informed consent was critical to success. ( 24286912 )
2013
43
Lymphangiomatous macroglossia associated with extensive cervicomediastinal cystic hygromas. ( 24012214 )
2013
44
Successful perioperative airway management in a patient with angiomatous macroglossia for laser ablation under general anesthesia. ( 23619724 )
2013
45
Symmetrical lipomatosis of the tongue-a rare cause of macroglossia: diagnosis, surgical treatment, and literature review. ( 23288609 )
2013
46
Tongue reduction for macroglossia in Beckwith Wiedemann syndrome: review and application of new technique. ( 23041202 )
2013
47
Methylprednisolone sodium succinate-associated macroglossia in a critically ill patient. ( 23386601 )
2013
48
Phenytoin induced life threatening macroglossia in a child. ( 23546362 )
2013
49
Macroglossia and generalized edema not due to hypothyroidism. ( 22052249 )
2012
50
Genetic causes of macroglossia: diagnostic approach. ( 22250026 )
2012

Variations for Macroglossia

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
Show member pathways
12.35 COL11A1 COL2A1 COL9A1 PTEN
2
Show member pathways
12.08 COL2A1 COL9A1 CSF3 PTEN
3
Show member pathways
11.69 COL11A1 COL2A1 COL9A1 PTEN

GO Terms for Macroglossia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.7 B2M C1S COL11A1 COL2A1 COL9A1 CSF3
2 collagen trimer GO:0005581 9.13 COL11A1 COL2A1 COL9A1
3 endoplasmic reticulum lumen GO:0005788 8.92 B2M COL11A1 COL2A1 COL9A1

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of epithelial cell proliferation GO:0050680 9.4 CDKN1C PTEN
2 heart morphogenesis GO:0003007 9.37 COL11A1 COL2A1
3 extracellular matrix organization GO:0030198 9.33 COL11A1 COL2A1 COL9A1
4 collagen fibril organization GO:0030199 9.32 COL11A1 COL2A1
5 skeletal system morphogenesis GO:0048705 9.26 COL11A1 COL2A1
6 cartilage condensation GO:0001502 8.96 COL11A1 COL2A1
7 proteoglycan metabolic process GO:0006029 8.62 COL11A1 COL2A1

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 8.96 COL11A1 COL2A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL2A1 COL9A1

Sources for Macroglossia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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