MCID: MLB001
MIFTS: 46

Mulibrey Nanism malady

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

Aliases & Classifications for Mulibrey Nanism

About this section
Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Mulibrey Nanism:

Name: Mulibrey Nanism 50 11 46 23 13 52 68 25 12 37 66
Muscle-Liver-Brain-Eye Nanism 11 46 52 68
Perheentupa Syndrome 11 46 52 68
Pericardial Constriction and Growth Failure 11 46 68
 
Pericardial Constriction-Growth Failure Syndrome 52
Mulibrey Dwarfism 52
Nanism Mulibrey 48
Mul 68

Characteristics:

Orphanet epidemiological data:

52
mulibrey nanism:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: elderly

HPO:

62
mulibrey nanism:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 253250
Disease Ontology11 DOID:0050436
MeSH37 D050336
NCIt43 C84906
Orphanet52 ORPHA2576
SNOMED-CT60 81604003
ICD10 via Orphanet29 Q87.1
MESH via Orphanet38 C538604, D050336
UMLS via Orphanet67 C0524582, C2931895
MedGen35 C0524582

Summaries for Mulibrey Nanism

About this section
NIH Rare Diseases:46 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 reproductive system.

OMIM:50 Mulibrey nanism is a rare autosomal recessive growth disorder with prenatal onset, including occasional progressive... (253250) more...

UniProtKB/Swiss-Prot:68 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.

Wikipedia:69 Mulibrey nanism (\"MUscle-LIver-BRain-EYe nanism\"), also called Perheentupa syndrome and pericardial... more...

Related Diseases for Mulibrey Nanism

About this section

Graphical network of the top 20 diseases related to Mulibrey Nanism:



Diseases related to mulibrey nanism

Symptoms for Mulibrey Nanism

About this section

Symptoms by clinical synopsis from OMIM:

253250

Clinical features from OMIM:

253250

Symptoms:

 52 (show all 9)
  • macrocephaly
  • wide nasal bridge
  • reduced tendon reflexes
  • intrauterine growth retardation
  • high pitched voice
  • hepatomegaly
  • j-shaped sella turcica
  • short stature
  • cachexia

HPO human phenotypes related to Mulibrey Nanism:

(show all 34)
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 short stature hallmark (90%) HP:0004322
5 decreased body weight hallmark (90%) HP:0004325
6 wide nasal bridge typical (50%) HP:0000431
7 hepatomegaly typical (50%) HP:0002240
8 microglossia HP:0000171
9 dolichocephaly HP:0000268
10 hypertelorism HP:0000316
11 triangular face HP:0000325
12 wide nasal bridge HP:0000431
13 astigmatism HP:0000483
14 strabismus HP:0000486
15 pigmentary retinopathy HP:0000580
16 hypodontia HP:0000668
17 dental crowding HP:0000678
18 muscular hypotonia HP:0001252
19 dysarthria HP:0001260
20 high pitched voice HP:0001620
21 weak voice HP:0001621
22 congestive heart failure HP:0001635
23 myocardial fibrosis HP:0001685
24 frontal bossing HP:0002007
25 ventriculomegaly HP:0002119
26 hepatomegaly HP:0002240
27 nephroblastoma HP:0002667
28 j-shaped sella turcica HP:0002680
29 absent frontal sinuses HP:0002688
30 hypoplastic frontal sinuses HP:0002738
31 nevus HP:0003764
32 short stature HP:0004322
33 pericardial constriction HP:0005132
34 depressed nasal bridge HP:0005280

UMLS symptoms related to Mulibrey Nanism:


hepatomegaly

Drugs & Therapeutics for Mulibrey Nanism

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Mulibrey Nanism


Cochrane evidence based reviews: mulibrey nanism

Genetic Tests for Mulibrey Nanism

About this section

Genetic tests related to Mulibrey Nanism:

id Genetic test Affiliating Genes
1 Mulibrey Nanism Syndrome25
2 Mulibrey Nanism23 TRIM37

Anatomical Context for Mulibrey Nanism

About this section

MalaCards organs/tissues related to Mulibrey Nanism:

34
Liver, Brain, Eye, Heart

Animal Models for Mulibrey Nanism or affiliated genes

About this section

MGI Mouse Phenotypes related to Mulibrey Nanism:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.8PEX1, PEX5, PEX7, TRIM37
2MP:00053898.5PEX5, PEX7, RAD51C, TRIM37
3MP:00053798.1PEX5, PEX7, RAD51C, TRIM37
4MP:00053787.9PEX1, PEX5, PEX7, RAD51C, TRIM37

Publications for Mulibrey Nanism

About this section

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

About this section

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

68
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, NT493deletionPathogenic
2TRIM37TRIM37, 1-BP DEL, 2212GdeletionPathogenic
3TRIM37TRIM37, 5-BP DEL, NT838deletionPathogenic
4TRIM37TRIM37, 1-BP INS, 1346AinsertionPathogenic
5TRIM37TRIM37, 8-BP DEL, NT855deletionPathogenic
6TRIM37NM_001005207.3(TRIM37): c.326G> C (p.Cys109Ser)single nucleotide variantPathogenicrs121908391GRCh37Chr 17, 57161406: 57161406
7TRIM37NM_015294.4(TRIM37): c.860G> A (p.Ser287Asn)single nucleotide variantLikely 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)single nucleotide variantLikely 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)single nucleotide variantLikely 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)single nucleotide variantLikely pathogenicrs386834004GRCh37Chr 17, 57165706: 57165706
15TRIM37NM_015294.4(TRIM37): c.745C> T (p.Gln249Ter)single nucleotide variantLikely pathogenicrs386834005GRCh37Chr 17, 57148248: 57148248
16TRIM37NM_015294.4(TRIM37): c.810-1G> Asingle nucleotide variantLikely 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)single nucleotide variantLikely pathogenicrs386834009GRCh37Chr 17, 57138447: 57138447

Expression for genes affiliated with Mulibrey Nanism

About this section
Search GEO for disease gene expression data for Mulibrey Nanism.

Pathways for genes affiliated with Mulibrey Nanism

About this section

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

About this section

Cellular components related to Mulibrey Nanism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1peroxisomal membraneGO:00057789.7PEX1, PEX5
2perinuclear region of cytoplasmGO:00484718.7HSPA1A, RAD51C, TRIM37
3peroxisomeGO:00057778.2PEX1, 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
2fatty acid beta-oxidationGO:00066359.5PEX5, PEX7
3protein import into peroxisome matrixGO:00165589.4PEX1, PEX5, PEX7
4peroxisome organizationGO:00070319.4PEX1, PEX5, PEX7
5neuron migrationGO:00017649.3PEX5, PEX7
6positive regulation of NF-kappaB transcription factor activityGO:00510929.2HSPA1A, TRIM37

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

idNameGO IDScoreTop Affiliating Genes
1ATPase activity, coupledGO:00426239.6HSPA1A, PEX1
2enzyme bindingGO:00198998.5HSPA1A, PEX5, PEX7

Sources for Mulibrey Nanism

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet