MCID: MLB001
MIFTS: 44

Mulibrey Nanism malady

Categories: Genetic diseases, Rare diseases, Fetal diseases, Neuronal diseases, Liver diseases

Aliases & Classifications for Mulibrey Nanism

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Mulibrey Nanism:

Name: Mulibrey Nanism 51 11 47 24 53 69 26 12 38 13 67
Muscle-Liver-Brain-Eye Nanism 11 47 53 69
Perheentupa Syndrome 11 47 53 69
Pericardial Constriction and Growth Failure 11 47 69
 
Pericardial Constriction-Growth Failure Syndrome 53
Mulibrey Dwarfism 53
Nanism Mulibrey 49
Mul 69

Characteristics:

Orphanet epidemiological data:

53
mulibrey nanism:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: elderly

HPO:

63
mulibrey nanism:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 253250
Disease Ontology11 DOID:0050436
MeSH38 D050336
NCIt44 C84906
Orphanet53 ORPHA2576
SNOMED-CT61 81604003
MESH via Orphanet39 C538604, D050336
UMLS via Orphanet68 C0524582, C2931895
ICD10 via Orphanet30 Q87.1
MedGen36 C0524582

Summaries for Mulibrey Nanism

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NIH Rare Diseases:47 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 constrictive pericarditis and pericarditis, 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 is Peroxisome. Affiliated tissues include liver, brain and eye, and related mouse phenotypes are liver/biliary system and endocrine/exocrine gland.

UniProtKB/Swiss-Prot:69 Mulibrey nanism: An autosomal recessive growth disorder characterized by severe growth failure of prenatal onset, constrictive pericardium and progressive cardiomyopathy, facial dysmorphism, and failure of sexual maturation. Additional clinical features include hepatomegaly, muscle hypotonia, J-shaped sella turcica, yellowish dots in the ocular fundi, hypoplasia of various endocrine glands, insulin resistance with type 2 diabetes, and an increased risk for Wilms' tumor.

OMIM:51 Mulibrey nanism is a rare autosomal recessive growth disorder with prenatal onset, including occasional progressive... (253250) more...

Wikipedia:70 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 the top 20 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

Human phenotypes related to Mulibrey Nanism:

 63 53 (show all 32)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000256
2 reduced tendon reflexes63 53 hallmark (90%) Very frequent (99-80%) HP:0001315
3 intrauterine growth retardation63 53 hallmark (90%) Very frequent (99-80%) HP:0001511
4 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
5 decreased body weight63 hallmark (90%) HP:0004325
6 wide nasal bridge63 53 typical (50%) Frequent (79-30%) HP:0000431
7 hepatomegaly63 53 typical (50%) Frequent (79-30%) HP:0002240
8 microglossia63 HP:0000171
9 dolichocephaly63 HP:0000268
10 hypertelorism63 HP:0000316
11 triangular face63 HP:0000325
12 astigmatism63 HP:0000483
13 strabismus63 HP:0000486
14 pigmentary retinopathy63 HP:0000580
15 hypodontia63 HP:0000668
16 dental crowding63 HP:0000678
17 muscular hypotonia63 HP:0001252
18 dysarthria63 HP:0001260
19 high pitched voice63 53 Very frequent (99-80%) HP:0001620
20 weak voice63 HP:0001621
21 congestive heart failure63 HP:0001635
22 myocardial fibrosis63 HP:0001685
23 frontal bossing63 HP:0002007
24 ventriculomegaly63 HP:0002119
25 nephroblastoma63 HP:0002667
26 j-shaped sella turcica63 53 Very frequent (99-80%) HP:0002680
27 absent frontal sinuses63 HP:0002688
28 hypoplastic frontal sinuses63 HP:0002738
29 nevus63 HP:0003764
30 pericardial constriction63 HP:0005132
31 depressed nasal bridge63 HP:0005280
32 cachexia53 Very frequent (99-80%)

UMLS symptoms related to Mulibrey Nanism:


hepatomegaly

Drugs & Therapeutics for Mulibrey Nanism

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Mulibrey Nanism


Cochrane evidence based reviews: mulibrey nanism

Genetic Tests for Mulibrey Nanism

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Genetic tests related to Mulibrey Nanism:

id Genetic test Affiliating Genes
1 Mulibrey Nanism Syndrome26
2 Mulibrey Nanism24 TRIM37

Anatomical Context for Mulibrey Nanism

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MalaCards organs/tissues related to Mulibrey Nanism:

35
Liver, Brain, Eye, Heart

Animal Models for Mulibrey Nanism or affiliated genes

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MGI Mouse Phenotypes related to Mulibrey Nanism:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.2PEX1, PEX5, PEX7, TRIM37
2MP:00053798.9PEX5, PEX7, RAD51C, TRIM37
3MP:00053788.4PEX1, PEX5, PEX7, RAD51C, TRIM37
4MP:00053898.1PEX5, PEX7, RAD51C, TRIM37

Publications for Mulibrey Nanism

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Articles related to Mulibrey Nanism:

(show all 48)
idTitleAuthorsYear
1
Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism. (27044324)
2016
2
A stone was lifted from her heart: pericardial constriction in 28-year-old patient with Mulibrey nanism. (27150563)
2016
3
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing. (27256967)
2016
4
Report of two Syrian siblings with Mulibrey nanism. (26664725)
2015
5
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
6
Thoracoscopic pericardiectomy for constrictive pericarditis in a pediatric patient with mulibrey nanism. (24327644)
2013
7
Testicular failure and male infertility in the monogenic Mulibrey nanism disorder. (21865362)
2011
8
Mulibrey nanism in a 35 year-old Iranian female with constrictive pericarditis. (25191351)
2011
9
Mass ascites in Mulibrey nanism. (21175083)
2010
10
High frequency of tumours in Mulibrey nanism. (19334051)
2009
11
Where genetics and pathology meet: mulibrey nanism. (19347900)
2009
12
Gynecological tumors in Mulibrey nanism and role for RING finger protein TRIM37 in the pathogenesis of ovarian fibrothecomas. (19329943)
2009
13
Cardiac dysfunction in children with mulibrey nanism. (17375349)
2007
14
A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy. (17551331)
2007
15
Growth and growth hormone therapy in subjects with mulibrey nanism. (17548484)
2007
16
Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism. (17100991)
2006
17
Tissue expression of the mulibrey nanism-associated Trim37 protein in embryonic and adult mouse tissues. (16514549)
2006
18
Characterisation of the mulibrey nanism-associated TRIM37 gene: transcription initiation, promoter region and alternative splicing. (16310976)
2006
19
TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase. (15885686)
2005
20
Cardiac involvement in Mulibrey nanism: characterization with magnetic resonance imaging. (15347129)
2004
21
Novel mutations in the TRIM37 gene in Mulibrey Nanism. (15108285)
2004
22
Failure of sexual maturation in Mulibrey nanism. (15590968)
2004
23
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
24
Mulibrey nanism: clinical features and diagnostic criteria. (14757854)
2004
25
A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity. (12754710)
2003
26
Mulibrey nanism--a novel peroxisomal disorder. (14713209)
2003
27
The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder. (11938494)
2002
28
Assessment of mulibrey nanism cardiopathy with functional magnetic resonance imaging. (11187000)
2000
29
Gene encoding a new RING-B-box-coiled-coil protein is mutated in mulibrey nanism. (10888877)
2000
30
Mulibrey nanism and Wilms tumor. (10377015)
1999
31
High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23. (10077533)
1999
32
Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis. (9106536)
1997
33
Mulibrey nanism. (7735507)
1995
34
Mulibrey nanism: three additional patients and a review of 39 patients. (7726235)
1995
35
Peroxisomal functions in mulibrey nanism. (7837772)
1994
36
Antibody deficiency and isolated growth hormone deficiency in a girl with Mulibrey nanism. (8335020)
1993
37
Mulibrey nanism, an autosomal recessive syndrome with ocular involvement. (6818830)
1982
38
A case of Mulibrey nanism with associated Wilms' tumor. (6248277)
1980
39
Craniofacial and dental study of mulibrey nanism. (281281)
1978
40
Constrictive pericarditis with dwarfism in two siblings (mulibrey nanism). (1255313)
1976
41
Growth failure with pericardial constriction. The syndrome of mulibrey nanism. (135512)
1976
42
Mulibrey nanism: review of 23 cases of a new autosomal recessive syndrome. (1227534)
1975
43
Mulibrey nanism; an inherited dysmorphic syndrome with characteristic ocular findings. (4368935)
1974
44
The cardiopathy of mulibrey nanism, a new inherited syndrome. (4275521)
1974
45
So-called mulibrey nanism with pericardial constriction. (4125809)
1973
46
Letter: Mulibrey nanism v. hereditary congenital dwarfism with pericardial constriction. (4127361)
1973
47
Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction. (4124529)
1973
48
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:

69
id Symbol AA change Variation ID SNP ID
1TRIM37p.Leu76ProVAR_060217rs386834004
2TRIM37p.Cys109SerVAR_060219rs121908391
3TRIM37p.Gly322ValVAR_060220rs386834009

Clinvar genetic disease variations for Mulibrey Nanism:

5 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1TRIM37TRIM37, 5-BP DEL, NT493deletionPathogenicChr na, -1: -1
2TRIM37TRIM37, 1-BP DEL, 2212GdeletionPathogenicChr na, -1: -1
3TRIM37TRIM37, 5-BP DEL, NT838deletionPathogenicChr na, -1: -1
4TRIM37TRIM37, 1-BP INS, 1346AinsertionPathogenicChr na, -1: -1
5TRIM37TRIM37, 8-BP DEL, NT855deletionPathogenicChr na, -1: -1
6TRIM37NM_001005207.3(TRIM37): c.326G> C (p.Cys109Ser)SNVPathogenicrs121908391GRCh37Chr 17, 57161406: 57161406
7TRIM37NM_015294.4(TRIM37): c.860G> A (p.Ser287Asn)SNVLikely pathogenic, Pathogenicrs386834008GRCh37Chr 17, 57141716: 57141716
8TRIM37NM_015294.4(TRIM37): c.1037_1040dupAGAT (p.Met347Ilefs)duplicationLikely pathogenicrs386833999GRCh37Chr 17, 57134395: 57134398
9TRIM37NM_015294.4(TRIM37): c.1346dupA (p.Ser450Valfs)duplicationLikely pathogenicrs386834000GRCh37Chr 17, 57126723: 57126723
10TRIM37NM_015294.4(TRIM37): c.1411C> T (p.Arg471Ter)SNVLikely pathogenicrs386834001GRCh37Chr 17, 57126658: 57126658
11TRIM37NM_015294.4(TRIM37): c.1894_1895delGA (p.Glu632Lysfs)deletionLikely pathogenicrs386834002GRCh37Chr 17, 57109310: 57109311
12TRIM37NM_015294.4(TRIM37): c.2056C> T (p.Arg686Ter)SNVLikely pathogenicrs386834003GRCh37Chr 17, 57105977: 57105977
13TRIM37NM_015294.4(TRIM37): c.2212delG (p.Glu738Asnfs)deletionPathogenicrs386833416GRCh37Chr 17, 57105821: 57105821
14TRIM37NM_015294.4(TRIM37): c.227T> C (p.Leu76Pro)SNVLikely pathogenicrs386834004GRCh37Chr 17, 57165706: 57165706
15TRIM37NM_015294.4(TRIM37): c.745C> T (p.Gln249Ter)SNVLikely pathogenicrs386834005GRCh37Chr 17, 57148248: 57148248
16TRIM37NM_015294.4(TRIM37): c.810-1G> ASNVLikely pathogenicrs386834006GRCh37Chr 17, 57141767: 57141767
17TRIM37NM_015294.4(TRIM37): c.838_842delACTTT (p.Thr280Cysfs)deletionLikely pathogenicrs386834007GRCh37Chr 17, 57141734: 57141738
18TRIM37NM_015294.4(TRIM37): c.965G> T (p.Gly322Val)SNVLikely 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:

idSuper pathwaysScoreTop Affiliating Genes
18.9PEX1, PEX5, PEX7

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
1peroxisomal membraneGO:00057789.6PEX1, PEX5
2perinuclear region of cytoplasmGO:00484718.7HSPA1B, RAD51C, TRIM37
3peroxisomeGO:00057778.6PEX1, PEX5, PEX7, TRIM37

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

idNameGO IDScoreTop Affiliating Genes
1protein targeting to peroxisomeGO:000662510.0PEX1, PEX7
2positive regulation of NF-kappaB transcription factor activityGO:00510929.7HSPA1B, TRIM37
3protein import into peroxisome matrixGO:00165589.4PEX1, PEX5, PEX7
4peroxisome organizationGO:00070319.4PEX1, PEX5, PEX7
5neuron migrationGO:00017649.3PEX5, PEX7
6fatty acid beta-oxidationGO:00066359.2PEX5, PEX7

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

idNameGO IDScoreTop Affiliating Genes
1ATPase activity, coupledGO:00426239.9HSPA1B, PEX1
2enzyme bindingGO:00198998.8HSPA1B, PEX5, PEX7

Sources for Mulibrey Nanism

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet