MCID: MCR037
MIFTS: 38

Macroglossia malady

Rare diseases, Gastrointestinal diseases, Fetal diseases categories

Summaries for Macroglossia

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Wikipedia:63 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

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Sources:
41NIH Rare Diseases, 43Novoseek, 47Orphanet, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Macroglossia, Aliases & Descriptions:

Name: Macroglossia 41 43
Congenital Macroglossia 41 47
 
Enlarged Tongue 41
Giant Tongue 41


Classifications:

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


External Ids:

Orphanet47 2430
MESH via Orphanet34 C531735
ICD10 via Orphanet26 Q38.2
UMLS via Orphanet61 C0009677
ICD1025 Q38.2

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 137)
idRelated DiseaseScoreTop Affiliating Genes
1beckwith-wiedemann syndrome30.9CDKN1C, NSD1
2multiple myeloma30.3CSF3, B2M
3amyloidosis10.6
4gigantism10.4
5myeloma10.4
6capillary leak syndrome10.3C1S
7myeloid leukemia10.2CSF3
8hypoglycemia10.2
9muscular dystrophy10.2
10kleefstra syndrome10.2
11neonatal diabetes mellitus10.2
12hypothyroidism10.2
13lymphangioma10.2
14mannosidosis, alpha-, types i and ii10.1
15neurofibromatosis10.1
16acromegaly10.1
17angioedema10.1
18omphalocele10.1
19hematologic cancer10.1CDKN1C, CSF3
20myelodysplastic syndrome10.1CSF3, CDKN1C
21acute kidney failure10.1B2M, C1S
22leukemia, chronic myeloid10.0CDKN1C, CSF3
23aspartylglucosaminuria10.0
24autoinflammation, lipodystrophy, and dermatosis syndrome10.0
25costello syndrome10.0
26angelman syndrome10.0
27glycogen storage disease ii10.0
28hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia10.0
29mucopolysaccharidosis type vi10.0
30duchenne muscular dystrophy10.0
31mucopolysaccharidosis ii10.0
32arthritis10.0
33obstructive sleep apnea10.0
34cowden disease10.0
35simpson-golabi-behmel syndrome10.0
36down syndrome10.0
37cervicitis10.0
38lipomatosis10.0
39myositis10.0
40purpura10.0
41sleep apnea10.0
42al amyloidosis10.0
43proteinuria10.0
44paternal uniparental disomy of chromosome 610.0
45cystic lymphangioma10.0
46deficiency anemia9.9B2M, CSF3
47leukemia, acute lymphoblastic9.9CDKN1C, CSF3
48lung cancer9.9C1S, CSF3, CDKN1C
49fucosidosis9.9
50psychomotor retardation, epilepsy, and craniofacial dysmorphism9.9

Graphical network of the top 20 diseases related to Macroglossia:



Diseases related to macroglossia

Symptoms for Macroglossia

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Symptoms:

 47
  • 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

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Drug clinical trials:

Search ClinicalTrials for Macroglossia

Search NIH Clinical Center for Macroglossia

Genetic Tests for Macroglossia

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Anatomical Context for Macroglossia

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MalaCards organs/tissues related to Macroglossia:

31
Tongue, Eye, Cortex, Heart, Trachea, Adrenal cortex

Animal Models for Macroglossia or affiliated genes

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Publications for Macroglossia

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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

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Expression for genes affiliated with Macroglossia

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Search GEO for disease gene expression data for Macroglossia.

Pathways for genes affiliated with Macroglossia

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Compounds for genes affiliated with Macroglossia

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Sources:
49PharmGKB, 43Novoseek, 12DrugBank, 2BitterDB
See all sources

Compounds related to Macroglossia according to GeneCards Suite gene sharing:

(show all 13)
idCompoundScoreTop Affiliating Genes
1gemtuzumab ozogamicin49 43 1211.7CSF3, C1S
2mesna439.6CSF3, B2M
32-chlorodeoxyadenosine439.6B2M, CSF3
4ifosfamide43 1210.5CSF3, B2M
5methimazole43 2 1211.5CSF3, B2M
6txb2439.5C1S, B2M
7zidovudine43 49 1211.4CSF3, B2M
8vincristine43 49 1211.3B2M, CSF3
9valine439.3CSF3, B2M
10adriamycin439.2CSF3, B2M
11rituximab43 49 1211.1CSF3, B2M, C1S
12cyclophosphamide43 49 1211.0CSF3, B2M
13cycloheximide439.0CDKN1C, CSF3, B2M

GO Terms for genes affiliated with Macroglossia

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

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

Products for genes affiliated with Macroglossia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Macroglossia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet