MCID: MLB001
MIFTS: 47

Mulibrey Nanism malady

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

Aliases & Classifications for Mulibrey Nanism

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Mulibrey Nanism:

Name: Mulibrey Nanism 49 10 11 45 22 12 51 65 36 67
Muscle-Liver-Brain-Eye Nanism 10 45 51 67
Perheentupa Syndrome 10 45 51 67
Pericardial Constriction and Growth Failure 10 45 67
 
Nanism Mulibrey 47 24
Pericardial Constriction - Growth Failure 51
Mulibrey Dwarfism 51
Mul 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
mulibrey nanism:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: elderly


External Ids:

OMIM49 253250
Disease Ontology10 DOID:0050436
MeSH36 D050336
Orphanet51 2576
ICD10 via Orphanet28 Q87.1
MESH via Orphanet37 C538604, D050336
UMLS via Orphanet66 C0524582, C2931895
MedGen34 C0524582

Summaries for Mulibrey Nanism

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NIH Rare Diseases:45 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 phenotype reproductive system.

OMIM:49 Mulibrey nanism is a rare autosomal recessive growth disorder with prenatal onset, including occasional progressive... (253250) more...

UniProtKB/Swiss-Prot:67 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:68 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

Symptoms:

 51 (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 35)
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 autosomal recessive inheritance HP:0000007
9 microglossia HP:0000171
10 dolichocephaly HP:0000268
11 hypertelorism HP:0000316
12 triangular face HP:0000325
13 wide nasal bridge HP:0000431
14 astigmatism HP:0000483
15 strabismus HP:0000486
16 pigmentary retinopathy HP:0000580
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

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 Nanism22 TRIM37
2 Mulibrey Nanism Syndrome24

Anatomical Context for Mulibrey Nanism

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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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MGI Mouse Phenotypes related to Mulibrey Nanism:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.0HSPA1A, PEX5, PEX7, RAD51C

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:

67
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_015294.3(TRIM37): c.860G> A (p.Ser287Asn)single nucleotide variantLikely pathogenic, Pathogenicrs386834008GRCh37Chr 17, 57141716: 57141716
8TRIM37NM_015294.3(TRIM37): c.1037_1040dupAGAT (p.Met347Ilefs)duplicationLikely pathogenicrs386833999GRCh37Chr 17, 57134395: 57134398
9TRIM37NM_015294.3(TRIM37): c.1346dupA (p.Ser450Valfs)duplicationLikely pathogenicrs386834000GRCh37Chr 17, 57126723: 57126723
10TRIM37NM_015294.3(TRIM37): c.1411C> T (p.Arg471Ter)single nucleotide variantLikely pathogenicrs386834001GRCh37Chr 17, 57126658: 57126658
11TRIM37NM_015294.3(TRIM37): c.1894_1895delGA (p.Glu632Lysfs)deletionLikely pathogenicrs386834002GRCh37Chr 17, 57109310: 57109311
12TRIM37NM_015294.3(TRIM37): c.2056C> T (p.Arg686Ter)single nucleotide variantLikely pathogenicrs386834003GRCh37Chr 17, 57105977: 57105977
13TRIM37NM_015294.3(TRIM37): c.2212delG (p.Glu738Asnfs)deletionPathogenicrs386833416GRCh37Chr 17, 57105821: 57105821
14TRIM37NM_015294.3(TRIM37): c.227T> C (p.Leu76Pro)single nucleotide variantLikely pathogenicrs386834004GRCh37Chr 17, 57165706: 57165706
15TRIM37NM_015294.3(TRIM37): c.745C> T (p.Gln249Ter)single nucleotide variantLikely pathogenicrs386834005GRCh37Chr 17, 57148248: 57148248
16TRIM37NM_015294.3(TRIM37): c.810-1G> Asingle nucleotide variantLikely pathogenicrs386834006GRCh37Chr 17, 57141767: 57141767
17TRIM37NM_015294.3(TRIM37): c.838_842delACTTT (p.Thr280Cysfs)deletionLikely pathogenicrs386834007GRCh37Chr 17, 57141734: 57141738
18TRIM37NM_015294.3(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:

idSuper pathways (with members indented)ScoreTop 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 matrixGO:00057829.8PEX5, PEX7
2peroxisomal membraneGO:00057789.8PEX1, PEX5
3perinuclear region of cytoplasmGO:00484719.2HSPA1A, RAD51C, TRIM37
4peroxisomeGO:00057778.8PEX1, PEX5, PEX7, TRIM37
5cytosolGO:00058297.9HSPA1A, PEX1, PEX5, PEX7, TRIM37

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

idNameGO IDScoreTop Affiliating Genes
1fatty acid beta-oxidationGO:00066359.3PEX5, PEX7
2neuron migrationGO:00017649.3PEX5, PEX7
3protein import into peroxisome matrixGO:00165589.3PEX1, PEX5, PEX7
4peroxisome organizationGO:00070319.3PEX1, PEX5, PEX7
5positive regulation of NF-kappaB transcription factor activityGO:00510929.2HSPA1A, TRIM37
6protein targeting to peroxisomeGO:00066259.2PEX1, PEX5, PEX7

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

idNameGO IDScoreTop Affiliating Genes
1ATPase activity, coupledGO:00426239.8HSPA1A, PEX1
2protein C-terminus bindingGO:00080229.4PEX1, PEX5
3enzyme bindingGO:00198998.5HSPA1A, PEX5, PEX7

Sources for Mulibrey Nanism

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet