MCID: MLB001
MIFTS: 55

Mulibrey Nanism malady

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

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NIH Rare Diseases:42 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 based summary: Mulibrey Nanism, also known as muscle-liver-brain-eye nanism, is related to peroxisome disorders and wilms tumor, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, abnormal cry/voice/phonation disorder/nasal speech and areflexia/hyporeflexia. 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, eye and brain, 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:46 253250

Aliases & Classifications for Mulibrey Nanism

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 10DISEASES, 48Orphanet, 62UMLS, 44Novoseek, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Mulibrey Nanism, Aliases & Descriptions:

Name: Mulibrey Nanism 8 9 42 20 22 46 10 48 62
Muscle-Liver-Brain-Eye Nanism 8 42 48 62
Perheentupa Syndrome 8 42 48 62
Pericardial Constriction and Growth Failure 8 42
 
Mulibrey Dwarfism 48 62
Pericardial Constriction - Growth Failure 48
Nanism Mulibrey 44


Classifications:



Characteristics (Orphanet epidemiological data):

48
mulibrey nanism:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Elderly


External Ids:

Disease Ontology8 DOID:0050436
OMIM46 253250
MeSH34 D050336
MESH via Orphanet35 C538604, D050336
ICD10 via Orphanet26 Q87.1
UMLS via Orphanet63 C0524582, C2931895

Related Diseases for Mulibrey Nanism

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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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Symptoms by clinical synopsis from OMIM:

253250

Clinical features from OMIM:

253250

Symptoms:

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

HPO human phenotypes related to Mulibrey Nanism:

(show all 37)
id Description Frequency HPO Source Accession
1 macrocephaly hallmark (90%) HP:0000256
2 reduced tendon reflexes hallmark (90%) HP:0001315
3 intrauterine growth retardation hallmark (90%) HP:0001511
4 abnormality of the voice hallmark (90%) HP:0001608
5 short stature hallmark (90%) HP:0004322
6 decreased body weight hallmark (90%) HP:0004325
7 wide nasal bridge typical (50%) HP:0000431
8 hepatomegaly typical (50%) HP:0002240
9 autosomal recessive inheritance HP:0000007
10 microglossia HP:0000171
11 dolichocephaly HP:0000268
12 hypertelorism HP:0000316
13 triangular face HP:0000325
14 wide nasal bridge HP:0000431
15 astigmatism HP:0000483
16 strabismus HP:0000486
17 hypodontia HP:0000668
18 dental crowding HP:0000678
19 muscular hypotonia HP:0001252
20 dysarthria HP:0001260
21 high pitched voice HP:0001620
22 weak voice HP:0001621
23 congestive heart failure HP:0001635
24 myocardial fibrosis HP:0001685
25 frontal bossing HP:0002007
26 ventriculomegaly HP:0002119
27 hepatomegaly HP:0002240
28 nephroblastoma (wilms tumor) HP:0002667
29 j-shaped sella turcica HP:0002680
30 absent frontal sinuses HP:0002688
31 hypoplastic frontal sinuses HP:0002738
32 nevus HP:0003764
33 short stature HP:0004322
34 pericardial constriction HP:0005132
35 depressed nasal bridge HP:0005280
36 decreased retinal pigmentation with dispersion HP:0007659
37 hypoplasia of choroid HP:0007757

Drugs & Therapeutics for Mulibrey Nanism

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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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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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MalaCards organs/tissues related to Mulibrey Nanism:

32
Liver, Eye, Brain, Heart

Animal Models for Mulibrey Nanism or affiliated genes

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MGI Mouse Phenotypes related to Mulibrey Nanism:

36
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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Articles related to Mulibrey Nanism:

(show all 44)
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
Mulibrey nanism in a 35 year-old Iranian female with constrictive pericarditis. (25191351)
2011
5
Mass ascites in Mulibrey nanism. (21175083)
2010
6
High frequency of tumours in Mulibrey nanism. (19334051)
2009
7
Where genetics and pathology meet: mulibrey nanism. (19347900)
2009
8
Gynecological tumors in Mulibrey nanism and role for RING finger protein TRIM37 in the pathogenesis of ovarian fibrothecomas. (19329943)
2009
9
Growth and growth hormone therapy in subjects with mulibrey nanism. (17548484)
2007
10
Cardiac dysfunction in children with mulibrey nanism. (17375349)
2007
11
A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy. (17551331)
2007
12
Tissue expression of the mulibrey nanism-associated Trim37 protein in embryonic and adult mouse tissues. (16514549)
2006
13
Characterisation of the mulibrey nanism-associated TRIM37 gene: transcription initiation, promoter region and alternative splicing. (16310976)
2006
14
Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism. (17100991)
2006
15
TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase. (15885686)
2005
16
Novel mutations in the TRIM37 gene in Mulibrey Nanism. (15108285)
2004
17
Failure of sexual maturation in Mulibrey nanism. (15590968)
2004
18
Cardiac involvement in Mulibrey nanism: characterization with magnetic resonance imaging. (15347129)
2004
19
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
20
Mulibrey nanism: clinical features and diagnostic criteria. (14757854)
2004
21
A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity. (12754710)
2003
22
Mulibrey nanism--a novel peroxisomal disorder. (14713209)
2003
23
The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder. (11938494)
2002
24
Assessment of mulibrey nanism cardiopathy with functional magnetic resonance imaging. (11187000)
2000
25
Gene encoding a new RING-B-box-coiled-coil protein is mutated in mulibrey nanism. (10888877)
2000
26
Mulibrey nanism and Wilms tumor. (10377015)
1999
27
High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23. (10077533)
1999
28
Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis. (9106536)
1997
29
Mulibrey nanism. (7735507)
1995
30
Mulibrey nanism: three additional patients and a review of 39 patients. (7726235)
1995
31
Peroxisomal functions in mulibrey nanism. (7837772)
1994
32
Antibody deficiency and isolated growth hormone deficiency in a girl with Mulibrey nanism. (8335020)
1993
33
Mulibrey nanism, an autosomal recessive syndrome with ocular involvement. (6818830)
1982
34
A case of Mulibrey nanism with associated Wilms' tumor. (6248277)
1980
35
Craniofacial and dental study of mulibrey nanism. (281281)
1978
36
Constrictive pericarditis with dwarfism in two siblings (mulibrey nanism). (1255313)
1976
37
Growth failure with pericardial constriction. The syndrome of mulibrey nanism. (135512)
1976
38
Mulibrey nanism: review of 23 cases of a new autosomal recessive syndrome. (1227534)
1975
39
Mulibrey nanism; an inherited dysmorphic syndrome with characteristic ocular findings. (4368935)
1974
40
The cardiopathy of mulibrey nanism, a new inherited syndrome. (4275521)
1974
41
So-called mulibrey nanism with pericardial constriction. (4125809)
1973
42
Letter: Mulibrey nanism v. hereditary congenital dwarfism with pericardial constriction. (4127361)
1973
43
Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction. (4124529)
1973
44
Mulibrey-nanism: dwarfism with muscle, liver, brain and eye involvement. (5277003)
1970

Variations for Mulibrey Nanism

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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:

6 (show all 18)
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 pathogenicrs386834008GRCh37Chr 17, 57141716: 57141716
8TRIM37NM_001005207.2(TRIM37): c.1037_1040dupAGAT (p.Met347Ilefs)duplicationLikely pathogenicrs386833999GRCh37Chr 17, 57134395: 57134398
9TRIM37NM_001005207.2(TRIM37): c.1346dupA (p.Ser450Valfs)duplicationLikely pathogenicrs386834000GRCh37Chr 17, 57126722: 57126723
10TRIM37NM_001005207.2(TRIM37): c.1411C> T (p.Arg471Ter)single nucleotide variantLikely pathogenicrs386834001GRCh37Chr 17, 57126658: 57126658
11TRIM37NM_001005207.2(TRIM37): c.1894_1895delGA (p.Glu632Lysfs)deletionLikely pathogenicrs386834002GRCh37Chr 17, 57109310: 57109311
12TRIM37NM_001005207.2(TRIM37): c.2056C> T (p.Arg686Ter)single nucleotide variantLikely pathogenicrs386834003GRCh37Chr 17, 57105977: 57105977
13TRIM37NM_001005207.2(TRIM37): c.2212delG (p.Glu738Asnfs)deletionPathogenicrs386833416GRCh37Chr 17, 57105821: 57105821
14TRIM37NM_001005207.2(TRIM37): c.227T> C (p.Leu76Pro)single nucleotide variantLikely pathogenicrs386834004GRCh37Chr 17, 57165706: 57165706
15TRIM37NM_001005207.2(TRIM37): c.745C> T (p.Gln249Ter)single nucleotide variantLikely pathogenicrs386834005GRCh37Chr 17, 57148248: 57148248
16TRIM37NM_001005207.2(TRIM37): c.810-1G> Asingle nucleotide variantLikely pathogenicrs386834006GRCh37Chr 17, 57141767: 57141767
17TRIM37NM_001005207.2(TRIM37): c.838_842delACTTT (p.Thr280Cysfs)deletionLikely pathogenicrs386834007GRCh37Chr 17, 57141734: 57141738
18TRIM37NM_001005207.2(TRIM37): c.965G> T (p.Gly322Val)single nucleotide variantLikely pathogenicrs386834009GRCh37Chr 17, 57138447: 57138447

Expression for genes affiliated with Mulibrey Nanism

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Expression patterns in normal tissues for genes affiliated with Mulibrey Nanism

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Pathways for genes affiliated with Mulibrey Nanism

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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 Pathway37
Apoptosis Modulation by HSP7037
HIV-1 Nef- Negative effector of Fas and TNF-alpha37
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 Degradation37
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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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:0047229.4PPM1E, MTMR4
3ubiquitin-protein ligase activityGO:0048428.9TRAF4, TRAF5, TRIM37, RBX1
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, PEX5, SPOP, PPM1E, MTMR4

Products for genes affiliated with Mulibrey Nanism

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Sources for Mulibrey Nanism

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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