MCID: MCR037
MIFTS: 47

Macroglossia malady

Rare diseases, Gastrointestinal diseases, Fetal diseases categories
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Summaries for Macroglossia

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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 macroglossia/tongue protrusion/proeminent/hypertrophicand autosomal dominant inheritance. 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.

Description from OMIM:46 153630

Aliases & Classifications for Macroglossia

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Sources:
42NIH Rare Diseases, 44Novoseek, 48Orphanet, 46OMIM, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Macroglossia, Aliases & Descriptions:

Name: Macroglossia 42 44
Congenital Macroglossia 42 48 46
Enlargement, Nos 62
 
Enlarged Tongue 42
Giant Tongue 42


Classifications:

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


External Ids:

OMIM46 153630
MESH via Orphanet35 C531735
ICD10 via Orphanet26 Q38.2
UMLS via Orphanet63 C0009677
ICD1025 Q38.2

Related Diseases for Macroglossia

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

(show top 50)    (show all 117)
idRelated DiseaseScoreTop Affiliating Genes
1beckwith-wiedemann syndrome30.9CDKN1C, NSD1
2multiple myeloma30.4CSF3, B2M
3amyloidosis10.6
4gigantism10.4
5myeloma10.4
6capillary leak syndrome10.4C1S
7hypoglycemia10.2
8muscular dystrophy10.2
9myeloid leukemia10.2CSF3
10diabetes mellitus10.2
11neonatal diabetes mellitus10.2
12hypothyroidism10.2
13lymphangioma10.2
14transient neonatal diabetes mellitus10.2
15hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia10.2
16acromegaly10.1
17carpal tunnel syndrome10.1
18neurofibromatosis10.1
19kleefstra syndrome10.1
20al amyloidosis10.1
21omphalocele10.1
22hematologic cancer10.1CDKN1C, CSF3
23septic shock10.1CSF3, C1S
24myelodysplastic syndromes10.1CSF3, CDKN1C
25acute kidney failure10.1B2M, C1S
26chronic myeloid leukemia10.1CDKN1C, CSF3
27arthritis10.0
28duchenne muscular dystrophy10.0
29down syndrome10.0
30cleft palate10.0
31obstructive sleep apnea10.0
32angioedema10.0
33cervicitis10.0
34lipomatosis10.0
35myositis10.0
36proteinuria10.0
37purpura10.0
38sleep apnea10.0
39cowden syndrome 110.0
40mannosidosis, alpha-, types i and ii10.0
41paternal uniparental disomy of chromosome 610.0
42cystic lymphangioma10.0
43acute lymphoblastic leukemia10.0CDKN1C, CSF3
44deficiency anemia10.0B2M, CSF3
45lung cancer9.9C1S, CSF3, CDKN1C
46amyotrophic lateral sclerosis9.9
47facioscapulohumeral muscular dystrophy9.9
48mucopolysaccharidosis ii9.9
49mucopolysaccharidosis vi9.9
50pemphigus vulgaris9.9

Graphical network of the top 20 diseases related to Macroglossia:



Diseases related to macroglossia

Symptoms for Macroglossia

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Symptoms by clinical synopsis from OMIM:

153630

Clinical features from OMIM:

153630

Symptoms:

48
  • 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:

32
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 244)
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
Macroglossia - not always AL amyloidosis. (21401321)
2011
7
A 77-year-old female with macroglossia. (21444941)
2011
8
Cervicofacial cavernous venous malformation with massive macroglossia: novel surgical treatment with harmonic scalpel. (20116727)
2010
9
Anaesthetic consideration in macroglossia due to lymphangioma of tongue: a case report. (20640084)
2009
10
A modified keyhole technique for correction of macroglossia. (19050540)
2008
11
Macroglossia and carpal tunnel syndrome associated with multiple myeloma: a case report. (16285349)
2005
12
Exuberant macroglossia in a patient with primary systemic amyloidosis. (15971439)
2005
13
Acquired macroglossia due to lopinavir/ritonavir treatment. (15610408)
2005
14
Episodic macroglossia as the sole manifestation of angiotensin-converting enzyme inhibitor-induced angioedema. (15053206)
2004
15
Macroglossia combined with lymphangioma: a case report. (12597690)
2003
16
Use of the intubating laryngeal mask in failed intubation associated with amyloid macroglossia. (12173233)
2002
17
Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency. (12031620)
2002
18
Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities. (11038325)
2000
19
Technique for uniform reduction of macroglossia. (10876252)
2000
20
Orthodontic-surgical approach in a case of severe open-bite associated with functional macroglossia. (10982938)
2000
21
The treatment of macroglossia before the 20th century. (9950110)
1999
22
Diagnosis of macroglossia and indications for reduction glossectomy. (8760843)
1996
23
Acute transient unilateral macroglossia following use of a LMA. (8665646)
1996
24
Posttraumatic macroglossia complicated by hyaluronidase injection. (8637758)
1996
25
The use of leeches in a case of post-operative life-threatening macroglossia. (7798005)
1995
26
Transient neonatal diabetes mellitus with ketoacidosis and macroglossia. (17590652)
1995
27
Pathologic quiz case 1. Lymphangiomatous macroglossia. (1986756)
1991
28
The efficacy of tongue resection in treatment of symptomatic macroglossia in the child. (2143060)
1990
29
Macroglossia: clinical considerations. (2637234)
1989
30
Macroglossia and ankyloglossia in Beckwith-Wiedemann syndrome. (3422394)
1988
31
Massive macroglossia, amyloidosis and myeloma. (3150784)
1988
32
Postoperative macroglossia causing airway obstruction. (4030241)
1985
33
Early tongue resection for Beckwith-Wiedemann macroglossia. (3994256)
1985
34
Computed tomography of macroglossia secondary to amyloidosis. (6736364)
1984
35
Chronic alveolar hypoventilation secondary to macroglossia in the Beckwith-Wiedemann syndrome. (7133819)
1982
36
The exomphalos, macroglossia, gigantism (E.M.G.) syndrome: a case report and review of the literature. (650125)
1978
37
Macroglossia in the Beckwith-Wiedemann syndrome. (855081)
1977
38
Lymphangiomatous macroglossia. (1053377)
1976
39
Macroglossia--a positional complication. (4812721)
1974
40
Omphalocoele, macroglossia and neonatal hypoglycemia (Beckwith's syndrome): two cases of Kenyan newborns. (4779525)
1973
41
Amyloidosis: report of a case presenting with macroglossia. (4726108)
1973
42
Exomphalos-macroglossia-gigantism (visceromegaly) syndrome. (The Beckwith-Wiedemann syndrome). (5058514)
1972
43
Congenital macroglossia. (5548986)
1971
44
Partial glossectomy for macroglossia. (5278785)
1971
45
The macroglossia of Beckwith's syndrome. (5435867)
1970
46
Exomphalos-macroglossia-gigantism syndrome in Jamaican infants. (5434588)
1970
47
Exomphalos with macroglossia: a study of eleven cases. (4865835)
1967
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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Expression patterns in normal tissues for genes affiliated with Macroglossia

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:
50PharmGKB, 44Novoseek, 11DrugBank, 2BitterDB
See all sources

Compounds related to Macroglossia according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1gemtuzumab ozogamicin50 44 1111.7CSF3, C1S
2mesna449.6CSF3, B2M
32-chlorodeoxyadenosine449.6B2M, CSF3
4ifosfamide44 1110.5CSF3, B2M
5methimazole44 2 1111.5CSF3, B2M
6txb2449.5C1S, B2M
7zidovudine44 50 1111.4CSF3, B2M
8vincristine44 50 1111.3B2M, CSF3
9valine449.3CSF3, B2M
10adriamycin449.2CSF3, B2M
11rituximab44 50 1111.1CSF3, B2M, C1S
12cyclophosphamide44 50 1111.0CSF3, B2M
13cycloheximide449.0CDKN1C, CSF3, B2M

GO Terms for genes affiliated with Macroglossia

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Biological processes related to Macroglossia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytokine-mediated signaling pathwayGO:0192219.3CSF3, B2M

Products for genes affiliated with Macroglossia

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  • Antibodies
  • Proteins
  • Lysates

Sources for Macroglossia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet