MCID: MCR037
MIFTS: 45

Macroglossia malady

Rare diseases, Gastrointestinal diseases, Fetal diseases categories

Summaries for Macroglossia

About this section


Wikipedia:65 Macroglossia is the medical term for an unusually large tongue. Severe enlargement of the tongue can... more...

MalaCards based summary: Macroglossia, also known as congenital macroglossia, is related to beckwith-wiedemann syndrome and multiple myeloma, and has symptoms including abnormality of the tongue, autosomal dominant inheritance and macroglossia. An important gene associated with Macroglossia is CDKN1C (cyclin-dependent kinase inhibitor 1C (p57, Kip2)). The compounds gemtuzumab ozogamicin and mesna have been mentioned in the context of this disorder. Affiliated tissues include tongue, eye and cortex.

Aliases & Classifications for Macroglossia

About this section
Sources:
43NIH Rare Diseases, 45Novoseek, 49Orphanet, 62UMLS, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet, 27ICD10
See all sources

Macroglossia, Aliases & Descriptions:

Name: Macroglossia 43 45
Congenital Macroglossia 43 49
Enlargement, Nos 62
 
Enlarged Tongue 43
Giant Tongue 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Gastrointestinal diseases


External Ids:

Orphanet49 2430
MESH via Orphanet36 C531735
ICD10 via Orphanet28 Q38.2
UMLS via Orphanet63 C0009677
ICD1027 Q38.2

Related Diseases for Macroglossia

About this section

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

(show top 50)    (show all 137)
idRelated DiseaseScoreTop Affiliating Genes
1beckwith-wiedemann syndrome30.9NSD1, CDKN1C
2multiple myeloma30.3CSF3, B2M
3amyloidosis10.6
4gigantism10.4
5myeloma10.4
6hypoglycemia10.2
7muscular dystrophy10.2
8kleefstra syndrome10.2
9neonatal diabetes mellitus10.2
10hypothyroidism10.2
11lymphangioma10.2
12mannosidosis, alpha-, types i and ii10.1
13neurofibromatosis10.1
14acromegaly10.1
15angioedema10.1
16omphalocele10.1
17capillary leak syndrome10.0C1S
18aspartylglucosaminuria10.0
19autoinflammation, lipodystrophy, and dermatosis syndrome10.0
20costello syndrome10.0
21angelman syndrome10.0
22glycogen storage disease ii10.0
23hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia10.0
24mucopolysaccharidosis type vi10.0
25duchenne muscular dystrophy10.0
26mucopolysaccharidosis ii10.0
27arthritis10.0
28obstructive sleep apnea10.0
29cowden disease10.0
30simpson-golabi-behmel syndrome10.0
31down syndrome10.0
32cervicitis10.0
33lipomatosis10.0
34myositis10.0
35purpura10.0
36sleep apnea10.0
37al amyloidosis10.0
38proteinuria10.0
39paternal uniparental disomy of chromosome 610.0
40cystic lymphangioma10.0
41myeloid leukemia10.0CSF3
42hematologic cancer10.0CDKN1C, CSF3
43myelodysplastic syndrome10.0CDKN1C, CSF3
44acute kidney failure10.0B2M, C1S
45leukemia, chronic myeloid10.0CSF3, CDKN1C
46deficiency anemia10.0B2M, CSF3
47leukemia, acute lymphoblastic10.0CSF3, CDKN1C
48lung cancer10.0C1S, CSF3, CDKN1C
49lymphoma, non-hodgkin10.0C1S, B2M, CSF3
50leukemia10.0CSF3, B2M, CDKN1C

Graphical network of the top 20 diseases related to Macroglossia:



Diseases related to macroglossia

Symptoms for Macroglossia

About this section


Symptoms:

 49
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • autosomal dominant inheritance

HPO human phenotypes related to Macroglossia:

id Description Frequency HPO Source Accession
1 abnormality of the tongue hallmark (90%) HP:0000157
2 autosomal dominant inheritance HP:0000006
3 macroglossia HP:0000158

Drugs & Therapeutics for Macroglossia

About this section

Drug clinical trials:

Search ClinicalTrials for Macroglossia

Search NIH Clinical Center for Macroglossia

Genetic Tests for Macroglossia

About this section

Anatomical Context for Macroglossia

About this section

MalaCards organs/tissues related to Macroglossia:

33
Tongue, Eye, Cortex, Heart, Trachea, Adrenal cortex

Animal Models for Macroglossia or affiliated genes

About this section

Publications for Macroglossia

About this section

Articles related to Macroglossia:

(show top 50)    (show all 246)
idTitleAuthorsYear
1
Surgical treatment of congenital true macroglossia. (24381769)
2013
2
Congenital macroglossia treated by 2-stage partial glossectomy. (23524740)
2013
3
Macroglossia in amyotrophic lateral sclerosis. (24042440)
2013
4
Congenital macroglossia: surgical and orthodontic management. (22583592)
2012
5
Macroglossia. (21554274)
2011
6
A 77-year-old female with macroglossia. (21444941)
2011
7
Cervicofacial cavernous venous malformation with massive macroglossia: novel surgical treatment with harmonic scalpel. (20116727)
2010
8
Anaesthetic consideration in macroglossia due to lymphangioma of tongue: a case report. (20640084)
2009
9
A modified keyhole technique for correction of macroglossia. (19050540)
2008
10
Macroglossia and carpal tunnel syndrome associated with multiple myeloma: a case report. (16285349)
2005
11
Exuberant macroglossia in a patient with primary systemic amyloidosis. (15971439)
2005
12
Acquired macroglossia due to lopinavir/ritonavir treatment. (15610408)
2005
13
Episodic macroglossia as the sole manifestation of angiotensin-converting enzyme inhibitor-induced angioedema. (15053206)
2004
14
Macroglossia combined with lymphangioma: a case report. (12597690)
2003
15
Use of the intubating laryngeal mask in failed intubation associated with amyloid macroglossia. (12173233)
2002
16
Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency. (12031620)
2002
17
Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities. (11038325)
2000
18
Technique for uniform reduction of macroglossia. (10876252)
2000
19
Orthodontic-surgical approach in a case of severe open-bite associated with functional macroglossia. (10982938)
2000
20
The treatment of macroglossia before the 20th century. (9950110)
1999
21
Diagnosis of macroglossia and indications for reduction glossectomy. (8760843)
1996
22
Acute transient unilateral macroglossia following use of a LMA. (8665646)
1996
23
Posttraumatic macroglossia complicated by hyaluronidase injection. (8637758)
1996
24
The use of leeches in a case of post-operative life-threatening macroglossia. (7798005)
1995
25
Transient neonatal diabetes mellitus with ketoacidosis and macroglossia. (17590652)
1995
26
Pathologic quiz case 1. Lymphangiomatous macroglossia. (1986756)
1991
27
The efficacy of tongue resection in treatment of symptomatic macroglossia in the child. (2143060)
1990
28
Macroglossia: clinical considerations. (2637234)
1989
29
Macroglossia and ankyloglossia in Beckwith-Wiedemann syndrome. (3422394)
1988
30
Massive macroglossia, amyloidosis and myeloma. (3150784)
1988
31
Postoperative macroglossia causing airway obstruction. (4030241)
1985
32
Early tongue resection for Beckwith-Wiedemann macroglossia. (3994256)
1985
33
Computed tomography of macroglossia secondary to amyloidosis. (6736364)
1984
34
Chronic alveolar hypoventilation secondary to macroglossia in the Beckwith-Wiedemann syndrome. (7133819)
1982
35
The exomphalos, macroglossia, gigantism (E.M.G.) syndrome: a case report and review of the literature. (650125)
1978
36
Macroglossia in the Beckwith-Wiedemann syndrome. (855081)
1977
37
Lymphangiomatous macroglossia. (1053377)
1976
38
Macroglossia--a positional complication. (4812721)
1974
39
Omphalocoele, macroglossia and neonatal hypoglycemia (Beckwith's syndrome): two cases of Kenyan newborns. (4779525)
1973
40
Exomphalos-macroglossia-gigantism (visceromegaly) syndrome. (The Beckwith-Wiedemann syndrome). (5058514)
1972
41
Congenital macroglossia. (5548986)
1971
42
Partial glossectomy for macroglossia. (5278785)
1971
43
The macroglossia of Beckwith's syndrome. (5435867)
1970
44
Exomphalos-macroglossia-gigantism syndrome in Jamaican infants. (5434588)
1970
45
Low set ears and small oral cavity with relative macroglossia in Down's syndrome: an explanation of the phenomenon. (4283608)
1970
46
Exomphalos with macroglossia: a study of eleven cases. (4865835)
1967
47
New syndrome of neonatal hypoglycemia. Association with visceromegaly, macroglossia, microcephaly and abnormal umbilicus. (5943267)
1966
48
Angular cheilosis and macroglossia; report of a case. (13224194)
1955
49
Amyloid macroglossia. (20288320)
1947
50
Specimen of Congenital Macroglossia. (19986296)
1928

Variations for Macroglossia

About this section

Expression for genes affiliated with Macroglossia

About this section

Search GEO for disease gene expression data for Macroglossia.

Pathways for genes affiliated with Macroglossia

About this section

Compounds for genes affiliated with Macroglossia

About this section
Sources:
51PharmGKB, 45Novoseek, 13DrugBank, 3BitterDB
See all sources

Compounds related to Macroglossia according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1gemtuzumab ozogamicin51 45 1311.7CSF3, C1S
2mesna459.6CSF3, B2M
32-chlorodeoxyadenosine459.6B2M, CSF3
4ifosfamide45 1310.5CSF3, B2M
5methimazole45 3 1311.5CSF3, B2M
6txb2459.5C1S, B2M
7zidovudine45 51 1311.4CSF3, B2M
8vincristine45 51 1311.3B2M, CSF3
9valine459.3CSF3, B2M
10adriamycin459.2CSF3, B2M
11rituximab45 51 1311.1CSF3, B2M, C1S
12cyclophosphamide45 51 1311.0CSF3, B2M
13cycloheximide459.0CDKN1C, CSF3, B2M

GO Terms for genes affiliated with Macroglossia

About this section

Biological processes related to Macroglossia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytokine-mediated signaling pathwayGO:00192219.3CSF3, B2M

Products for genes affiliated with Macroglossia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Macroglossia

About this section
4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet