MCID: MCR037
MIFTS: 44

Macroglossia

Categories: Rare diseases, Gastrointestinal diseases, Fetal diseases

Aliases & Classifications for Macroglossia

MalaCards integrated aliases for Macroglossia:

Name: Macroglossia 53 49 28 51
Congenital Macroglossia 49 55
Enlarged Tongue 49
Giant Tongue 49

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
macroglossia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 153630
Orphanet 55 ORPHA2430
MESH via Orphanet 42 C531735
UMLS via Orphanet 70 C0009677
ICD10 via Orphanet 33 Q38.2
MedGen 39 C0024421
ICD10 32 Q38.2
SNOMED-CT via HPO 65 263681008 25273001

Summaries for Macroglossia

NIH Rare Diseases : 49 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 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. Affiliated tissues include tongue, trachea and adrenal cortex.

OMIM : 53 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 : 72 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 101)
# 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 med13l haploinsufficiency syndrome 10.8
22 peripheral resistance to thyroid hormones 10.8
23 amyloidosis 10.4
24 marshall syndrome 10.3 COL11A1 COL2A1
25 retinal perforation 10.3 COL11A1 COL2A1
26 autosomal recessive stickler syndrome 10.3 COL11A1 COL9A1
27 otospondylomegaepiphyseal dysplasia 10.3 COL11A1 COL2A1
28 vitreous syneresis 10.3 COL11A1 COL2A1
29 vitreoretinal degeneration 10.3 COL11A1 COL2A1
30 pyle disease 10.3 CDKN1C COL2A1
31 vitreoretinal dystrophy 10.3 COL11A1 COL2A1
32 achondrogenesis, type ii 10.2 COL11A1 COL2A1
33 hypochondrogenesis 10.2 COL11A1 COL2A1
34 gigantism 10.2
35 kniest dysplasia 10.2 COL11A1 COL2A1
36 stickler syndrome 10.1 COL11A1 COL2A1 COL9A1
37 multiple epiphyseal dysplasia 10.1 COL11A1 COL2A1 COL9A1
38 spinal stenosis 10.0 COL2A1 COL9A1
39 myeloma, multiple 10.0
40 lymphangioma 10.0
41 muscular dystrophy 10.0
42 hypoglycemia 10.0
43 diabetes mellitus, transient neonatal, 1 9.9
44 diabetes mellitus 9.9
45 neonatal diabetes mellitus 9.9
46 hypothyroidism 9.9
47 lipomatosis 9.9
48 spondyloepiphyseal dysplasia congenita 9.9 COL11A1 COL2A1
49 carpal tunnel syndrome 9.9
50 neurofibromatosis, type iv, of riccardi 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:

53
Mouth:
isolated macroglossia


Clinical features from OMIM:

153630

Human phenotypes related to Macroglossia:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000158

Drugs & Therapeutics for Macroglossia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparison of Two Insertion Techniques of Proseal Laryngeal Mask Airway by Unskilled Personnel in Children Unknown status NCT01191619
2 A Pilot Study to Evaluate the Safety and Efficacy of the Hypoglossal Nerve Stimulator in Adolescents With Down Syndrome and Obstructive Sleep Apnea Recruiting NCT02344108

Search NIH Clinical Center for Macroglossia

Genetic Tests for Macroglossia

Genetic tests related to Macroglossia:

# Genetic test Affiliating Genes
1 Macroglossia 28

Anatomical Context for Macroglossia

MalaCards organs/tissues related to Macroglossia:

38
Tongue, Trachea, Adrenal Cortex, Heart, Cortex, Eye

Publications for Macroglossia

Articles related to Macroglossia:

(show top 50) (show all 270)
# Title Authors Year
1
Severe macroglossia after posterior fossa and craniofacial surgery in children. ( 29301676 )
2018
2
National trends in tongue reduction surgery for macroglossia in children. ( 29395995 )
2018
3
Macroglossia as a presenting feature of multiple myeloma. ( 29026768 )
2017
4
Intermittent hypoxia causes mandibular growth retardation and macroglossia in growing rats. ( 28153167 )
2017
5
Persistent Acute Onset Macroglossia Treated with Compression Therapy. ( 29085692 )
2017
6
Angiotensin-converting Enzyme (ACE) Inhibitor Induced Macroglossia. ( 29327538 )
2017
7
Massive Macroglossia After Posterior Cranial Fossa Surgery: A Case Report. ( 29210720 )
2017
8
Macroglossia During Awake Craniotomy: A Near Miss. ( 29045270 )
2017
9
Unusual Case of a Massive Macroglossia Secondary to Myxedema: A Case Report and Literature Review. ( 28742994 )
2017
10
Macroglossia. ( 28168951 )
2017
11
A case of symmetrical lipomatosis of the tongue presenting as macroglossia. ( 27427539 )
2016
12
Amyloidosis Presenting as Macroglossia and Restricted Tongue Movement. ( 29148674 )
2016
13
Symmetric Lipomatosis Arising in the Tongue Presenting as Macroglossia and Articulatory Disorder. ( 27413566 )
2016
14
Macroglossia in advanced amyotrophic lateral sclerosis. ( 26816340 )
2016
15
Macroglossia and periorbital ecchymosis. ( 26905771 )
2016
16
Surgical management of macroglossia secondary to amyloidosis. ( 27068724 )
2016
17
Application of Maxillomandibular Fixation for Management of Traumatic Macroglossia: A Case Report. ( 26576243 )
2015
18
Massive macroglossia secondary to angioedema: a review and presentation of a case. ( 25883001 )
2015
19
Macroglossia. ( 25824898 )
2015
20
Current surgical management of macroglossia. ( 26101871 )
2015
21
Successful Treatment of Macroglossia Due to Lymphatic Malformation With Sirolimus. ( 25902840 )
2015
22
13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia. ( 26365529 )
2015
23
Macroglossia Associated with Lymphangioma: Surgical Management of An Interesting Case. ( 26672763 )
2015
24
Macroglossia as the only presenting feature of amyloidosis due to MGUS. ( 23799910 )
2014
25
Life-threatening macroglossia after posterior fossa surgery: a surgical positioning problem? ( 25654956 )
2014
26
Sensory changes after tongue reduction for macroglossia. ( 22901656 )
2014
27
Macroglossia in amyotrophic lateral sclerosis. ( 24042440 )
2013
28
The surgical management of severe macroglossia in systemic AL amyloidosis. ( 22591765 )
2013
29
Tongue reduction for macroglossia in Beckwith Wiedemann syndrome: review and application of new technique. ( 23041202 )
2013
30
Symmetrical lipomatosis of the tongue-a rare cause of macroglossia: diagnosis, surgical treatment, and literature review. ( 23288609 )
2013
31
Macroglossia Associated with Brainstem Injury. ( 24002892 )
2013
32
Lymphangiomatous macroglossia associated with extensive cervicomediastinal cystic hygromas. ( 24012214 )
2013
33
Successful perioperative airway management in a patient with angiomatous macroglossia for laser ablation under general anesthesia. ( 23619724 )
2013
34
Methylprednisolone sodium succinate-associated macroglossia in a critically ill patient. ( 23386601 )
2013
35
Congenital macroglossia treated by 2-stage partial glossectomy. ( 23524740 )
2013
36
Orthodontic treatment of a patient with Duchenne muscular dystrophy and macroglossia: how informed consent was critical to success. ( 24286912 )
2013
37
Surgical treatment of congenital true macroglossia. ( 24381769 )
2013
38
Management of macroglossia in Beckwith-Wiedemann syndrome. ( 22341741 )
2013
39
Phenytoin induced life threatening macroglossia in a child. ( 23546362 )
2013
40
Ultrasonography of the tongue in macroglossia - a case report. ( 26673678 )
2013
41
Surgical treatment of macroglossia caused by systemic primary amyloidosis. ( 22727361 )
2013
42
Macroglossia and generalized edema not due to hypothyroidism. ( 22052249 )
2012
43
Massive macroglossia after palatoplasty: case report and review of the literature. ( 21912891 )
2012
44
Response of glandular organs to experimental macroglossia. ( 22816101 )
2012
45
Lingual angioedema with macroglossia during the treatment of acute ischemic stroke with alteplase. ( 22399862 )
2012
46
Surgical treatment of macroglossia in patients with Beckwith-Wiedemann syndrome: a 20-year experience and review of the literature. ( 22104000 )
2012
47
Congenital macroglossia: surgical and orthodontic management. ( 22583592 )
2012
48
The effects of macroglossia on speech: a case study. ( 21728833 )
2012
49
Massive macroglossia developing fast and immediately after endotracheal extubation. ( 22103631 )
2012
50
Macroglossia in a child undergoing posterior fossa surgery in sitting position. ( 22412792 )
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
12.45 COL11A1 COL2A1 COL9A1 PTEN
2
Show member pathways
12.28 COL2A1 COL9A1 CSF3 PTEN
3
Show member pathways
12.02 COL11A1 COL2A1 COL9A1 PTEN
4 9.83 COL11A1 COL2A1 COL9A1 CSF3

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 heart morphogenesis GO:0003007 9.37 COL11A1 COL2A1
2 extracellular matrix organization GO:0030198 9.33 COL11A1 COL2A1 COL9A1
3 skeletal system morphogenesis GO:0048705 9.32 COL11A1 COL2A1
4 collagen fibril organization GO:0030199 9.26 COL11A1 COL2A1
5 cartilage condensation GO:0001502 8.96 COL11A1 COL2A1
6 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 conferring tensile strength GO:0030020 8.62 COL2A1 COL9A1

Sources for Macroglossia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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