MCID: MCR037
MIFTS: 45

Macroglossia malady

Categories: Rare diseases, Gastrointestinal diseases, Fetal diseases

Aliases & Classifications for Macroglossia

Aliases & Descriptions for Macroglossia:

Name: Macroglossia 54 50 29 52
Congenital Macroglossia 50 56
Enlarged Tongue 50
Giant Tongue 50

Characteristics:

HPO:

32
macroglossia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 153630
Orphanet 56 ORPHA2430
UMLS via Orphanet 70 C0009677
ICD10 via Orphanet 34 Q38.2
MESH via Orphanet 43 C531735
ICD10 33 Q38.2

Summaries for Macroglossia

NIH Rare Diseases : 50 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 kleefstra syndrome. An important gene associated with Macroglossia is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C), and among its related pathways/superpathways are Phospholipase-C Pathway and Collagen chain trimerization. Affiliated tissues include tongue, heart and eye.

OMIM : 54 Macroglossia is an abnormal enlargement of the tongue. It is commonly observed with type 2 glycogen storage disease... (153630) more...

Wikipedia : 71 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 84)
id Related Disease Score Top Affiliating Genes
1 beckwith-wiedemann syndrome 11.8
2 kleefstra syndrome 10.9
3 mental retardation, x-linked, syndromic 15 10.8
4 stickler syndrome, type ii 10.7
5 stickler syndrome, type iii 10.7
6 stickler syndrome, type iv 10.7
7 simpson-golabi-behmel syndrome 10.7
8 cowden syndrome 1 10.7
9 stickler syndrome, type i 10.7
10 catel-manzke syndrome 10.7
11 mannosidosis, alpha-, types i and ii 10.7
12 amyloidosis 10.3
13 hemorrhagic fever 10.2 CDKN1C PTEN
14 marshall syndrome 10.2 COL11A1 COL2A1
15 fibrochondrogenesis 1 10.2 COL11A1 COL2A1
16 pterygium, antecubital 10.2 CDKN1C COL2A1
17 plantar nerve lesion 10.2 COL11A1 COL2A1
18 moyamoya disease 10.2 COL11A1 COL2A1
19 warm antibody hemolytic anemia 10.2 COL11A1 COL2A1
20 ureter cancer 10.1 COL11A1 COL2A1
21 adult-onset still's disease 10.1 COL11A1 COL2A1
22 epiphyseal dysplasia, multiple, with myopia and deafness 10.1 COL11A1 COL2A1
23 oto-palatal-digital syndrome 10.1 COL11A2 COL2A1
24 deafness, autosomal recessive 53 10.1 COL11A2 COL2A1
25 maternally-inherited mitochondrial dystonia 10.1 COL11A1 COL9A1
26 gigantism 10.1
27 encephalomalacia 10.1 B2M CDKN1C
28 albright's hereditary osteodystrophy 10.1 COL11A1 COL2A1
29 smed strudwick type 10.0 COL11A1 COL2A1
30 salt and pepper syndrome 10.0 COL11A1 COL11A2
31 neuropathy, distal hereditary motor, type iia 10.0 COL11A1 COL2A1
32 slti salem syndrome 10.0 COL11A2 COL2A1
33 deafness, autosomal dominant 13 9.9 COL11A1 COL11A2 COL2A1
34 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 9.9 COL11A1 COL11A2 COL2A1
35 intermediate uveitis 9.9 COL2A1 COL9A1
36 lymphangioma 9.9
37 muscular dystrophy 9.9
38 hypoglycemia 9.9
39 syngnathia cleft palate 9.9 COL11A1 COL11A2 COL9A1
40 hypothyroidism 9.9
41 lipomatosis 9.9
42 multiple myeloma 9.9
43 neonatal diabetes mellitus 9.9
44 angioedema 9.8
45 al amyloidosis 9.8
46 omphalocele 9.8
47 neurofibromatosis 9.8
48 charcot-marie-tooth disease type 5 9.7 COL11A1 COL11A2 COL2A1 COL9A1
49 arthritis 9.7
50 sleep apnea 9.7

Graphical network of the top 20 diseases related to Macroglossia:



Diseases related to Macroglossia

Symptoms & Phenotypes for Macroglossia

Symptoms by clinical synopsis from OMIM:

153630

Clinical features from OMIM:

153630

Human phenotypes related to Macroglossia:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 56 32 Very frequent (99-80%) HP:0000158

Drugs & Therapeutics for Macroglossia

Interventional clinical trials:


id Name Status NCT ID Phase
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:

id Genetic test Affiliating Genes
1 Macroglossia 29

Anatomical Context for Macroglossia

MalaCards organs/tissues related to Macroglossia:

39
Tongue, Heart, Eye, Trachea, Cortex, Adrenal Cortex

Publications for Macroglossia

Articles related to Macroglossia:

(show top 50) (show all 261)
id Title Authors Year
1
Macroglossia. ( 28168951 )
2017
2
Intermittent hypoxia causes mandibular growth retardation and macroglossia in growing rats. ( 28153167 )
2017
3
Symmetric Lipomatosis Arising in the Tongue Presenting as Macroglossia and Articulatory Disorder. ( 27413566 )
2016
4
Surgical management of macroglossia secondary to amyloidosis. ( 27068724 )
2016
5
Macroglossia in advanced amyotrophic lateral sclerosis. ( 26816340 )
2016
6
A case of symmetrical lipomatosis of the tongue presenting as macroglossia. ( 27427539 )
2016
7
Macroglossia and periorbital ecchymosis. ( 26905771 )
2016
8
Application of Maxillomandibular Fixation for Management of Traumatic Macroglossia: A Case Report. ( 26576243 )
2015
9
Massive macroglossia secondary to angioedema: a review and presentation of a case. ( 25883001 )
2015
10
Macroglossia Associated with Lymphangioma: Surgical Management of An Interesting Case. ( 26672763 )
2015
11
Macroglossia. ( 25824898 )
2015
12
13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia. ( 26365529 )
2015
13
Successful Treatment of Macroglossia Due to Lymphatic Malformation With Sirolimus. ( 25902840 )
2015
14
Current surgical management of macroglossia. ( 26101871 )
2015
15
Life-threatening macroglossia after posterior fossa surgery: a surgical positioning problem? ( 25654956 )
2014
16
Sensory changes after tongue reduction for macroglossia. ( 22901656 )
2014
17
Macroglossia as the only presenting feature of amyloidosis due to MGUS. ( 23799910 )
2014
18
Methylprednisolone sodium succinate-associated macroglossia in a critically ill patient. ( 23386601 )
2013
19
Orthodontic treatment of a patient with Duchenne muscular dystrophy and macroglossia: how informed consent was critical to success. ( 24286912 )
2013
20
Successful perioperative airway management in a patient with angiomatous macroglossia for laser ablation under general anesthesia. ( 23619724 )
2013
21
Congenital macroglossia treated by 2-stage partial glossectomy. ( 23524740 )
2013
22
Management of macroglossia in Beckwith-Wiedemann syndrome. ( 22341741 )
2013
23
Tongue reduction for macroglossia in Beckwith Wiedemann syndrome: review and application of new technique. ( 23041202 )
2013
24
Ultrasonography of the tongue in macroglossia - a case report. ( 26673678 )
2013
25
Lymphangiomatous macroglossia associated with extensive cervicomediastinal cystic hygromas. ( 24012214 )
2013
26
Macroglossia in amyotrophic lateral sclerosis. ( 24042440 )
2013
27
The surgical management of severe macroglossia in systemic AL amyloidosis. ( 22591765 )
2013
28
Surgical treatment of macroglossia caused by systemic primary amyloidosis. ( 22727361 )
2013
29
Macroglossia Associated with Brainstem Injury. ( 24002892 )
2013
30
Phenytoin induced life threatening macroglossia in a child. ( 23546362 )
2013
31
Symmetrical lipomatosis of the tongue-a rare cause of macroglossia: diagnosis, surgical treatment, and literature review. ( 23288609 )
2013
32
Surgical treatment of congenital true macroglossia. ( 24381769 )
2013
33
Macroglossia and generalized edema not due to hypothyroidism. ( 22052249 )
2012
34
Massive macroglossia after palatoplasty: case report and review of the literature. ( 21912891 )
2012
35
Massive macroglossia developing fast and immediately after endotracheal extubation. ( 22103631 )
2012
36
Genetic causes of macroglossia: diagnostic approach. ( 22250026 )
2012
37
Surgical management of obstructive sleep apnea in acromegaly with mandibular prognathism and macroglossia: a treatment dilemma. ( 21824705 )
2012
38
Macroglossia in a child undergoing posterior fossa surgery in sitting position. ( 22412792 )
2012
39
The effects of macroglossia on speech: a case study. ( 21728833 )
2012
40
Response of glandular organs to experimental macroglossia. ( 22816101 )
2012
41
Surgical treatment of macroglossia in patients with Beckwith-Wiedemann syndrome: a 20-year experience and review of the literature. ( 22104000 )
2012
42
Congenital macroglossia: surgical and orthodontic management. ( 22583592 )
2012
43
Lingual angioedema with macroglossia during the treatment of acute ischemic stroke with alteplase. ( 22399862 )
2012
44
Double stellate tongue reduction: a new method of treatment for macroglossia in patients with Beckwith-wiedemann syndrome. ( 21407066 )
2011
45
Utilization of a modified bite guard for preventing traumatic macroglossia. ( 21233745 )
2011
46
Macroglossia associated with 271 bp deletion in exon 50 of dystrophin gene. ( 21655206 )
2011
47
Macroglossia due to Systemic Amyloidosis: Is There a Role for Radiotherapy? ( 21941488 )
2011
48
Three-dimensional computerized tomographic angiography diagnosis and surgical treatment of macroglossia with huge venous malformation: a case report. ( 21292516 )
2011
49
Giant macroglossia with persistent nonocclusion in a neonate. ( 22005373 )
2011
50
Unilateral macroglossia as sole presenting manifestation of internal carotid artery dissection. ( 21938704 )
2011

Variations for Macroglossia

Expression for Macroglossia

Search GEO for disease gene expression data for Macroglossia.

Pathways for Macroglossia

GO Terms for Macroglossia

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.86 B2M C1S COL11A1 COL11A2 COL2A1 COL9A1
2 proteinaceous extracellular matrix GO:0005578 9.62 COL11A1 COL11A2 COL2A1 COL9A1
3 endoplasmic reticulum lumen GO:0005788 9.35 B2M COL11A1 COL11A2 COL2A1 COL9A1
4 collagen type XI trimer GO:0005592 9.16 COL11A1 COL11A2
5 collagen trimer GO:0005581 8.92 COL11A1 COL11A2 COL2A1 COL9A1

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.67 COL11A1 COL2A1 COL9A1
2 skeletal system development GO:0001501 9.65 CDKN1C COL11A2 COL2A1
3 sensory perception of sound GO:0007605 9.58 COL11A1 COL11A2 COL2A1
4 ossification GO:0001503 9.54 COL11A1 COL11A2 COL2A1
5 heart morphogenesis GO:0003007 9.52 COL11A1 COL2A1
6 chondrocyte differentiation GO:0002062 9.51 COL11A2 COL2A1
7 cartilage condensation GO:0001502 9.46 COL11A1 COL2A1
8 tissue homeostasis GO:0001894 9.43 COL11A2 COL2A1
9 cartilage development GO:0051216 9.43 COL11A1 COL11A2 COL2A1
10 collagen catabolic process GO:0030574 9.33 COL11A1 COL11A2 COL2A1
11 proteoglycan metabolic process GO:0006029 9.32 COL11A1 COL2A1
12 skeletal system morphogenesis GO:0048705 9.13 COL11A1 COL11A2 COL2A1
13 collagen fibril organization GO:0030199 8.8 COL11A1 COL11A2 COL2A1

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

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.13 COL11A1 COL11A2 COL2A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.8 COL11A2 COL2A1 COL9A1

Sources for Macroglossia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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