MCID: MLB001
MIFTS: 55

Mulibrey Nanism malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Liver diseases categories
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Summaries for Mulibrey Nanism

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Sources:
43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Mulibrey nanism is a rare genetic disorder characterized by profound growth delays and distinctive abnormalities of the muscles, liver, brain, and eyes. the acronym mulibrey stands for (mu)scle, (li)ver, (br)ain, and (ey)e; nanism is another word for dwarfism. signs and symptoms of the disorder may include constrictive pericarditis; low birth weight; short stature; severe progressive growth delays; hypotonia; hepatomegaly; and yellow discoloration of the eyes in infancy. it is caused by mutations in the trim37 gene and is inherited in an autosomal recessive manner. treatment may include surgery for constrictive pericarditis, medications for progressive heart failure and hormone replacement therapy. last updated: 6/2/2011

MalaCards: Mulibrey Nanism, also known as muscle-liver-brain-eye nanism, is related to peroxisome disorders and dwarfism, and has symptoms including hepatomegaly/liver enlargement (excluding storage disease), broad nasal root and intrauterine growth retardation. An important gene associated with Mulibrey Nanism is TRIM37 (tripartite motif containing 37), and among its related pathways are Peroxisome and Fanconi anemia pathway. Affiliated tissues include liver, brain and eye, and related mouse phenotypes are reproductive system and growth/size/body.

Wikipedia:65 Mulibrey nanism (\"MUscle-LIver-BRain-EYe nanism\"), also called Perheentupa syndrome and pericardial... more...

Description from OMIM:47 253250

Aliases & Classifications for Mulibrey Nanism

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 35MeSH, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
mulibrey nanism:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Elderly


Aliases & Descriptions:

mulibrey nanism 8 9 43 20 22 47 10 49 62
muscle-liver-brain-eye nanism 8 43 49
perheentupa syndrome 8 43 49
pericardial constriction and growth failure 8 43
pericardial constriction - growth failure 49
mulibrey dwarfism 49
nanism mulibrey 45


External Ids:

Disease Ontology8 DOID:0050436
OMIM47 253250
MeSH35 D050336
ICD10 via Orphanet26 Q87.1
SNOMED-CT via Orphanet59 81604003
UMLS via Orphanet63 C0524582, C2931895
MESH via Orphanet36 C538604, D050336

Related Diseases for Mulibrey Nanism

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Mulibrey Nanism:



Diseases related to mulibrey nanism

Symptoms for Mulibrey Nanism

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

253250

Clinical features from OMIM:

253250

Symptoms:

49 (show all 9)
  • hepatomegaly/liver enlargement (excluding storage disease)
  • broad nasal root
  • intrauterine growth retardation
  • short stature/dwarfism/nanism
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • autosomal recessive inheritance
  • areflexia/hyporeflexia
  • abnormal cry/voice/phonation disorder/nasal speech
  • macrocephaly/macrocrania/megalocephaly/megacephaly

Drugs & Therapeutics for Mulibrey Nanism

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Mulibrey Nanism

Search NIH Clinical Center for Mulibrey Nanism

Genetic Tests for Mulibrey Nanism

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20GeneTests, 22GTR
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Genetic tests related to Mulibrey Nanism:

id Genetic test Affiliating Genes
1 Mulibrey Nanism20 TRIM37
2 Mulibrey Nanism Syndrome22

Anatomical Context for Mulibrey Nanism

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33MalaCards
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MalaCards organs/tissues related to Mulibrey Nanism:

33
Liver, Brain, Eye, Heart

Animal Models for Mulibrey Nanism or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Mulibrey Nanism:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.6TRAF4, UBB, RAD51C, HSPA1B, PEX7, PEX5
2MP:00053787.8PEX5, PEX7, HSPA1B, RAD51C, UBC, UBB
3MP:00107687.7HSPA1B, PEX7, PEX5, SPOP, UBC, TRAF4
4MP:00053847.6TRAF4, SPOP, PEX5, PEX7, HSPA1B, UBC

Publications for Mulibrey Nanism

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52PubMed
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Articles related to Mulibrey Nanism:

(show all 43)
idTitleAuthorsYear
1
Thoracoscopic pericardiectomy for constrictive pericarditis in a pediatric patient with mulibrey nanism. (24327644)
2013
2
Refractory congestive heart failure following delayed pericardectomy in a 12-year-old child with Mulibrey nanism due to a novel mutation in TRIM37. (23385855)
2013
3
Testicular failure and male infertility in the monogenic Mulibrey nanism disorder. (21865362)
2011
4
Mass ascites in Mulibrey nanism. (21175083)
2010
5
High frequency of tumours in Mulibrey nanism. (19334051)
2009
6
Where genetics and pathology meet: mulibrey nanism. (19347900)
2009
7
Gynecological tumors in Mulibrey nanism and role for RING finger protein TRIM37 in the pathogenesis of ovarian fibrothecomas. (19329943)
2009
8
Growth and growth hormone therapy in subjects with mulibrey nanism. (17548484)
2007
9
Cardiac dysfunction in children with mulibrey nanism. (17375349)
2007
10
A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy. (17551331)
2007
11
Tissue expression of the mulibrey nanism-associated Trim37 protein in embryonic and adult mouse tissues. (16514549)
2006
12
Characterisation of the mulibrey nanism-associated TRIM37 gene: transcription initiation, promoter region and alternative splicing. (16310976)
2006
13
Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism. (17100991)
2006
14
TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase. (15885686)
2005
15
Novel mutations in the TRIM37 gene in Mulibrey Nanism. (15108285)
2004
16
Failure of sexual maturation in Mulibrey nanism. (15590968)
2004
17
Cardiac involvement in Mulibrey nanism: characterization with magnetic resonance imaging. (15347129)
2004
18
Ascites and nuchal fold as the first signs of progressive cardiac diastolic dysfunction in a fetus with fetal growth restriction due to mulibrey nanism. (15065196)
2004
19
Mulibrey nanism: clinical features and diagnostic criteria. (14757854)
2004
20
A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity. (12754710)
2003
21
Mulibrey nanism--a novel peroxisomal disorder. (14713209)
2003
22
The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder. (11938494)
2002
23
Assessment of mulibrey nanism cardiopathy with functional magnetic resonance imaging. (11187000)
2000
24
Gene encoding a new RING-B-box-coiled-coil protein is mutated in mulibrey nanism. (10888877)
2000
25
Mulibrey nanism and Wilms tumor. (10377015)
1999
26
High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23. (10077533)
1999
27
Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis. (9106536)
1997
28
Mulibrey nanism. (7735507)
1995
29
Mulibrey nanism: three additional patients and a review of 39 patients. (7726235)
1995
30
Peroxisomal functions in mulibrey nanism. (7837772)
1994
31
Antibody deficiency and isolated growth hormone deficiency in a girl with Mulibrey nanism. (8335020)
1993
32
Mulibrey nanism, an autosomal recessive syndrome with ocular involvement. (6818830)
1982
33
A case of Mulibrey nanism with associated Wilms' tumor. (6248277)
1980
34
Craniofacial and dental study of mulibrey nanism. (281281)
1978
35
Constrictive pericarditis with dwarfism in two siblings (mulibrey nanism). (1255313)
1976
36
Growth failure with pericardial constriction. The syndrome of mulibrey nanism. (135512)
1976
37
Mulibrey nanism: review of 23 cases of a new autosomal recessive syndrome. (1227534)
1975
38
Mulibrey nanism; an inherited dysmorphic syndrome with characteristic ocular findings. (4368935)
1974
39
The cardiopathy of mulibrey nanism, a new inherited syndrome. (4275521)
1974
40
So-called mulibrey nanism with pericardial constriction. (4125809)
1973
41
Letter: Mulibrey nanism v. hereditary congenital dwarfism with pericardial constriction. (4127361)
1973
42
Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction. (4124529)
1973
43
Mulibrey-nanism: dwarfism with muscle, liver, brain and eye involvement. (5277003)
1970

Variations for Mulibrey Nanism

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Mulibrey Nanism:

64
id Symbol AA change Variation ID SNP ID
1TRIM37p.Leu76ProVAR_060217
2TRIM37p.Cys109SerVAR_060219
3TRIM37p.Gly322ValVAR_060220

Clinvar genetic disease variations for Mulibrey Nanism:

1
id Gene Name Type Significance SNP ID Assembly Location
1TRIM37TRIM37, 5-BP DEL, NT493deletionPathogenic
2TRIM37TRIM37, 1-BP DEL, 2212GdeletionPathogenic
3TRIM37TRIM37, 5-BP DEL, NT838deletionPathogenic
4TRIM37TRIM37, 1-BP INS, 1346AinsertionPathogenic
5TRIM37TRIM37, 8-BP DEL, NT855deletionPathogenic
6TRIM37NM_001005207.2(TRIM37): c.326G> C (p.Cys109Ser)single nucleotide variantPathogenicrs121908391GRCh37Chr 17, 57161406: 57161406
7TRIM37NM_001005207.2(TRIM37): c.860G> A (p.Ser287Asn)single nucleotide variantLikely pathogenic, Pathogenicrs386834008GRCh37Chr 17, 57141716: 57141716
8TRIM37NM_001005207.2(TRIM37): c.2212delG (p.Glu738Asnfs)deletionPathogenicrs386833416GRCh37Chr 17, 57105821: 57105821

Expression for genes affiliated with Mulibrey Nanism

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mulibrey Nanism

Search GEO for disease gene expression data for Mulibrey Nanism.

Pathways for genes affiliated with Mulibrey Nanism

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Sources:
50PathCards, 30KEGG, 55Reactome, 60Thomson Reuters, 53QIAGEN, 38NCBI BioSystems Database, 57SinoBiological, 12EMD Millipore
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Pathways related to Mulibrey Nanism according to GeneCards/GeneDecks:

(show all 40)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7PEX5, PEX1, PEX7
2
Show member pathways
9.5UBB, UBC
39.5UBB, UBC
49.5UBB, UBC
5
Show member pathways
9.5UBC, UBB
69.5UBC, UBB
7
Show member pathways
9.5UBC, UBB
89.5UBB, UBC
9
Show member pathways
9.5UBB, UBC
109.5UBC, UBB
11
Show member pathways
9.5UBB, UBC
129.4HSPA1B, UBB, RBX1
13
Show member pathways
9.3HSPA1B, UBC, UBB
14
Show member pathways
Apoptosis and survival TNFR1 signaling pathway60
TWEAK Signaling Pathway38
Apoptosis Modulation by HSP7038
HIV-1 Nef- Negative effector of Fas and TNF-alpha38
9.2TRAF5, TRAF4, HSPA1B
15
Show member pathways
9.2UBB, UBC, MTMR4
16
Show member pathways
9.2UBB, UBC, MTMR4
179.2TRAF5, PSMC5, HSPA1B
189.2UBB, UBC, PSMC5
19
Show member pathways
9.2PSMC5, UBC, UBB
20
Show member pathways
9.2UBB, UBC, PSMC5
21
Show member pathways
9.2UBB, UBC, PSMC5
229.2UBB, UBC, PSMC5
239.2UBB, UBC, PSMC5
249.2UBB, UBC, PSMC5
25
Show member pathways
9.2PSMC5, UBC, UBB
26
Show member pathways
9.2UBB, UBC, PSMC5
27
Show member pathways
9.2UBC, UBB, RBX1
28
Show member pathways
9.2UBC, UBB, RBX1
29
Show member pathways
9.2UBC, UBB, RBX1
30
Show member pathways
9.2RBX1, UBB, UBC
31
Show member pathways
9.2RBX1, UBB, UBC
32
Show member pathways
8.9UBB, UBC, PSMC5, HSPA1B
338.9RBX1, UBB, UBC, HSPA1B
34
Show member pathways
8.8PSMC5, UBC, UBB, RBX1
35
Show member pathways
8.8PSMC5, UBC, UBB, RBX1
36
Show member pathways
8.6TRIM37, RBX1, UBB, UBC, PSMC5
37
Show member pathways
8.6UBC, UBB, TRAF4, TRAF5
38
Show member pathways
8.6TRAF5, TRAF4, UBB, UBC
39
Show member pathways
Proteasome Degradation38
Immune response Antigen presentation by MHC class I60
8.5RBX1, UBB, UBC, PSMC5, HSPA1B
408.2HSPA1B, PSMC5, MTMR4, UBC, UBB, RBX1

Compounds for genes affiliated with Mulibrey Nanism

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GO Terms for genes affiliated with Mulibrey Nanism

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16Gene Ontology
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Cellular components related to Mulibrey Nanism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1aggresomeGO:01623510.1TRIM37, HSPA1B
2inclusion bodyGO:01623410.0PSMC5, HSPA1B
3peroxisomal matrixGO:00578210.0PEX7, PEX5
4peroxisomeGO:0057779.7PEX5, PEX1, PEX7, TRIM37
5Cul3-RING ubiquitin ligase complexGO:0314639.6RBX1, SPOP
6perinuclear region of cytoplasmGO:0484719.5HSPA1B, RAD51C, TRAF4, TRIM37
7nucleoplasmGO:0056548.6PSMC5, RAD51C, UBC, UBB, RBX1
8mitochondrionGO:0057398.3PPM1E, PEX5, HSPA1B, BBOX1, RAD51C
9cytoplasmGO:0057377.7PEX5, PEX1, HSPA1B, PSMC5, RAD51C, TRAF4
10cytosolGO:0058296.4TRIM37, PEX5, PEX1, PEX7, HSPA1B, PSMC5

Biological processes related to Mulibrey Nanism according to GeneCards/GeneDecks:

(show all 42)
idNameGO IDScoreTop Affiliating Genes
1protein targeting to peroxisomeGO:00662510.4PEX5, PEX1
2peroxisome organizationGO:00703110.3PEX7, PEX1
3protein import into peroxisome matrixGO:01655810.2PEX7, PEX1, PEX5
4fatty acid beta-oxidationGO:00663510.0PEX5, PEX7
5viral protein processingGO:0190829.9UBB, UBC
6virion assemblyGO:0190689.9UBB, UBC
7regulation of type I interferon productionGO:0324799.9UBB, UBC
8intracellular transport of virusGO:0757339.8UBC, UBB
9Notch receptor processingGO:0072209.8UBB, UBC
10glycogen biosynthetic processGO:0059789.8UBB, UBC
11nucleotide-binding oligomerization domain containing signaling pathwayGO:0704239.7UBB, UBC
12negative regulation of type I interferon productionGO:0324809.7UBB, UBC
13negative regulation of epidermal growth factor receptor signaling pathwayGO:0420599.7UBB, UBC
14negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305129.6UBB, UBC, MTMR4
15proteasome-mediated ubiquitin-dependent protein catabolic processGO:0431619.6SPOP, PSMC5, RBX1
16negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycleGO:0514369.6UBB, UBC, PSMC5
17DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestGO:0069779.6PSMC5, UBC, UBB
18positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycleGO:0514379.6UBB, UBC, PSMC5
19regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:0614189.6UBC, UBB, RBX1
20regulation of ubiquitin-protein ligase activity involved in mitotic cell cycleGO:0514399.6PSMC5, UBC, UBB
21antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentGO:0024799.6PSMC5, UBC, UBB
22antigen processing and presentation of exogenous peptide antigen via MHC class IGO:0425909.6UBB, UBC, PSMC5
23anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic processGO:0311459.6PSMC5, UBC, UBB
24transforming growth factor beta receptor signaling pathwayGO:0071799.6UBB, UBC, MTMR4
25antigen processing and presentation of peptide antigen via MHC class IGO:0024749.6UBB, UBC, PSMC5
26protein polyubiquitinationGO:0002099.5PSMC5, UBC, UBB
27cellular response to hypoxiaGO:0714569.5RBX1, UBB, UBC
28Notch signaling pathwayGO:0072199.5UBC, UBB, RBX1
29G1/S transition of mitotic cell cycleGO:0000829.5UBB, UBC, PSMC5
30nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:0358729.4UBC, UBB
31mRNA metabolic processGO:0160719.3HSPA1B, PSMC5, UBC, UBB
32RNA metabolic processGO:0160709.3UBB, UBC, PSMC5, HSPA1B
33DNA repairGO:0062819.3RBX1, UBB, UBC, RAD51C
34I-kappaB kinase/NF-kappaB signalingGO:0072499.2UBC, UBB
35negative regulation of apoptotic processGO:0430669.2HSPA1B, PSMC5, UBC, UBB
36positive regulation of I-kappaB kinase/NF-kappaB signalingGO:0431239.2UBC, UBB, TRAF5
37positive regulation of NF-kappaB transcription factor activityGO:0510929.1TRIM37, TRAF5, UBB, UBC
38viral processGO:0160329.0PSMC5, UBC, UBB, RBX1
39gene expressionGO:0104678.9UBB, UBC, PSMC5, HSPA1B
40regulation of apoptotic processGO:0429818.7TRAF5, TRAF4, UBB, UBC, PSMC5
41apoptotic processGO:0069158.7PSMC5, UBC, UBB, TRAF4, TRAF5
42small molecule metabolic processGO:0442818.4UBB, UBC, BBOX1, MTMR4, PSMC5

Molecular functions related to Mulibrey Nanism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1thioesterase bindingGO:0319969.4TRAF5, TRAF4
2protein serine/threonine phosphatase activityGO:0047229.4MTMR4, PPM1E
3ubiquitin-protein ligase activityGO:0048428.9RBX1, TRAF4, TRAF5, TRIM37
4ubiquitin protein ligase bindingGO:0316258.2TRIM37, TRAF5, TRAF4, RBX1, HSPA1B, SPOP
5zinc ion bindingGO:0082708.2BBOX1, RBX1, TRAF4, TRAF5, TRIM37
6protein bindingGO:0055155.1PSMC5, HSPA1B, PEX1, PEX5, SPOP, PPM1E

Products for genes affiliated with Mulibrey Nanism

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Sources for Mulibrey Nanism

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet