MCID: MLB001
MIFTS: 49

Mulibrey Nanism malady

Genetic diseases, Rare diseases, Fetal diseases, Neuronal diseases, Liver diseases categories

Aliases & Classifications for Mulibrey Nanism

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Sources:
46OMIM, 8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Mulibrey Nanism:

Name: Mulibrey Nanism 46 8 9 42 20 10 48 61
Muscle-Liver-Brain-Eye Nanism 8 42 48
Perheentupa Syndrome 8 42 48
Pericardial Constriction and Growth Failure 8 42
 
Pericardial Constriction - Growth Failure 42 48
Mulibrey Dwarfism 42 48
Nanism Mulibrey 44 22


Classifications:



Characteristics (Orphanet epidemiological data):

48
mulibrey nanism:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: elderly


External Ids:

OMIM46 253250
Disease Ontology8 DOID:0050436
MeSH33 D050336
Orphanet48 2576
MESH via Orphanet34 C538604, D050336
ICD10 via Orphanet26 Q87.1
UMLS via Orphanet62 C0524582, C2931895

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, reduced tendon reflexes 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, eye and brain, and related mouse phenotypes are reproductive system and growth/size/body.

OMIM:46 Mulibrey nanism is a rare autosomal recessive growth disorder with prenatal onset, including occasional progressive... (253250) more...

Wikipedia:64 Mulibrey nanism (\"MUscle-LIver-BRain-EYe nanism\"), also called Perheentupa syndrome and pericardial... more...

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:

31
Liver, Eye, Brain, Heart

Animal Models for Mulibrey Nanism or affiliated genes

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MGI Mouse Phenotypes related to Mulibrey Nanism:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.6PEX5, PEX7, HSPA1B, RAD51C, UBB, TRAF4
2MP:00053787.8TRAF4, PEX5, PEX7, HSPA1B, RAD51C, UBC
3MP:00107687.7PEX5, PEX7, HSPA1B, RAD51C, UBC, RBX1
4MP:00053847.6SPOP, PEX5, PEX7, HSPA1B, UBC, RBX1

Publications for Mulibrey Nanism

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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
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
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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UniProtKB/Swiss-Prot genetic disease variations for Mulibrey Nanism:

63
id Symbol AA change Variation ID SNP ID
1TRIM37p.Leu76ProVAR_060217
2TRIM37p.Cys109SerVAR_060219
3TRIM37p.Gly322ValVAR_060220

Clinvar genetic disease variations for Mulibrey Nanism:

5 (show all 18)
id Gene Variation 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.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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Search GEO for disease gene expression data for Mulibrey Nanism.

Pathways for genes affiliated with Mulibrey Nanism

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Pathways related to Mulibrey Nanism according to GeneCards Suite gene sharing:

(show all 40)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7PEX7, PEX1, PEX5
2
Show member pathways
9.5UBC, UBB
39.5UBC, UBB
49.5UBC, UBB
5
Show member pathways
9.5UBB, UBC
69.5UBC, UBB
7
Show member pathways
9.5UBB, UBC
8
Show member pathways
9.5UBB, UBC
99.5UBB, UBC
109.5UBB, UBC
11
Show member pathways
9.5UBB, UBC
129.4UBB, RBX1, HSPA1B
13
Show member pathways
9.3UBB, UBC, HSPA1B
14
Show member pathways
Apoptosis and survival TNFR1 signaling pathway59
TWEAK Signaling Pathway36
Apoptosis Modulation by HSP7036
HIV-1 Nef- Negative effector of Fas and TNF-alpha36
9.2TRAF5, HSPA1B, TRAF4
15
Show member pathways
9.2UBB, UBC, MTMR4
16
Show member pathways
9.2MTMR4, UBB, UBC
179.2HSPA1B, TRAF5, PSMC5
189.2UBB, UBC, PSMC5
19
Show member pathways
9.2UBB, PSMC5, UBC
20
Show member pathways
9.2PSMC5, UBC, UBB
21
Show member pathways
9.2UBB, PSMC5, UBC
229.2PSMC5, UBB, UBC
239.2PSMC5, UBC, UBB
249.2PSMC5, UBB, UBC
25
Show member pathways
9.2UBB, UBC, PSMC5
26
Show member pathways
9.2UBB, UBC, PSMC5
27
Show member pathways
9.2UBC, RBX1, UBB
28
Show member pathways
9.2UBC, UBB, RBX1
29
Show member pathways
9.2RBX1, UBC, UBB
30
Show member pathways
9.2RBX1, UBC, UBB
31
Show member pathways
9.2RBX1, UBB, UBC
32
Show member pathways
8.9HSPA1B, PSMC5, UBC, UBB
338.9RBX1, UBB, UBC, HSPA1B
34
Show member pathways
8.8UBB, UBC, RBX1, PSMC5
35
Show member pathways
8.8RBX1, UBB, UBC, PSMC5
36
Show member pathways
8.6PSMC5, UBC, UBB, TRIM37, RBX1
37
Show member pathways
8.6TRAF5, UBC, UBB, TRAF4
38
Show member pathways
8.6UBC, UBB, TRAF4, TRAF5
39
Show member pathways
Proteasome Degradation36
Immune response Antigen presentation by MHC class I59
8.5RBX1, UBC, PSMC5, HSPA1B, UBB
408.2UBB, UBC, MTMR4, PSMC5, HSPA1B, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1aggresomeGO:001623510.1TRIM37, HSPA1B
2inclusion bodyGO:001623410.0PSMC5, HSPA1B
3peroxisomal matrixGO:000578210.0PEX7, PEX5
4peroxisomeGO:00057779.7PEX5, PEX1, PEX7, TRIM37
5Cul3-RING ubiquitin ligase complexGO:00314639.6RBX1, SPOP
6perinuclear region of cytoplasmGO:00484719.5HSPA1B, RAD51C, TRAF4, TRIM37
7nucleoplasmGO:00056548.6PSMC5, RAD51C, UBC, UBB, RBX1
8mitochondrionGO:00057398.3PPM1E, PEX5, HSPA1B, BBOX1, RAD51C
9cytoplasmGO:00057377.7PEX5, PEX1, HSPA1B, PSMC5, RAD51C, TRAF4
10cytosolGO:00058296.4TRIM37, PEX5, PEX1, PEX7, HSPA1B, PSMC5

Biological processes related to Mulibrey Nanism according to GeneCards Suite gene sharing:

(show all 42)
idNameGO IDScoreTop Affiliating Genes
1protein targeting to peroxisomeGO:000662510.4PEX1, PEX5
2peroxisome organizationGO:000703110.3PEX7, PEX1
3protein import into peroxisome matrixGO:001655810.2PEX7, PEX1, PEX5
4fatty acid beta-oxidationGO:000663510.0PEX7, PEX5
5viral protein processingGO:00190829.9UBC, UBB
6regulation of type I interferon productionGO:00324799.9UBC, UBB
7virion assemblyGO:00190689.9UBC, UBB
8intracellular transport of virusGO:00757339.8UBB, UBC
9Notch receptor processingGO:00072209.8UBC, UBB
10glycogen biosynthetic processGO:00059789.8UBC, UBB
11nucleotide-binding oligomerization domain containing signaling pathwayGO:00704239.7UBB, UBC
12negative regulation of type I interferon productionGO:00324809.7UBC, UBB
13negative regulation of epidermal growth factor receptor signaling pathwayGO:00420599.7UBB, UBC
14negative regulation of transforming growth factor beta receptor signaling pathwayGO:00305129.6MTMR4, UBC, UBB
15proteasome-mediated ubiquitin-dependent protein catabolic processGO:00431619.6PSMC5, SPOP, RBX1
16negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycleGO:00514369.6UBB, UBC, PSMC5
17DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestGO:00069779.6PSMC5, UBC, UBB
18positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycleGO:00514379.6UBB, UBC, PSMC5
19regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:00614189.6UBB, RBX1, UBC
20antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentGO:00024799.6PSMC5, UBC, UBB
21regulation of ubiquitin-protein ligase activity involved in mitotic cell cycleGO:00514399.6UBB, PSMC5, UBC
22antigen processing and presentation of exogenous peptide antigen via MHC class IGO:00425909.6UBC, PSMC5, UBB
23anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic processGO:00311459.6UBB, PSMC5, UBC
24transforming growth factor beta receptor signaling pathwayGO:00071799.6UBB, UBC, MTMR4
25antigen processing and presentation of peptide antigen via MHC class IGO:00024749.6UBB, PSMC5, UBC
26protein polyubiquitinationGO:00002099.5UBB, UBC, PSMC5
27cellular response to hypoxiaGO:00714569.5RBX1, UBB, UBC
28Notch signaling pathwayGO:00072199.5RBX1, UBB, UBC
29G1/S transition of mitotic cell cycleGO:00000829.5UBC, UBB, PSMC5
30nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:00358729.4UBC, UBB
31mRNA metabolic processGO:00160719.3PSMC5, UBB, UBC, HSPA1B
32RNA metabolic processGO:00160709.3PSMC5, UBB, UBC, HSPA1B
33DNA repairGO:00062819.3RAD51C, UBC, UBB, RBX1
34I-kappaB kinase/NF-kappaB signalingGO:00072499.2UBB, UBC
35negative regulation of apoptotic processGO:00430669.2PSMC5, UBB, UBC, HSPA1B
36positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.2UBB, UBC, TRAF5
37positive regulation of NF-kappaB transcription factor activityGO:00510929.1TRIM37, TRAF5, UBC, UBB
38viral processGO:00160329.0RBX1, UBC, PSMC5, UBB
39gene expressionGO:00104678.9HSPA1B, UBB, PSMC5, UBC
40regulation of apoptotic processGO:00429818.7TRAF5, UBB, UBC, PSMC5, TRAF4
41apoptotic processGO:00069158.7PSMC5, TRAF5, TRAF4, UBB, UBC
42small molecule metabolic processGO:00442818.4MTMR4, BBOX1, UBB, PSMC5, UBC

Molecular functions related to Mulibrey Nanism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1thioesterase bindingGO:00319969.4TRAF5, TRAF4
2protein serine/threonine phosphatase activityGO:00047229.4MTMR4, PPM1E
3ubiquitin-protein ligase activityGO:00048428.9RBX1, TRAF4, TRAF5, TRIM37
4ubiquitin protein ligase bindingGO:00316258.2TRIM37, TRAF5, TRAF4, RBX1, HSPA1B, SPOP
5zinc ion bindingGO:00082708.2BBOX1, RBX1, TRAF4, TRAF5, TRIM37
6protein bindingGO:00055155.1PSMC5, HSPA1B, PEX1, PEX5, SPOP, PPM1E

Sources for Mulibrey Nanism

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet