MUL
MCID: MLB001
MIFTS: 43

Mulibrey Nanism (MUL) 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, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Mulibrey Nanism:

Name: Mulibrey Nanism 52 11 48 24 54 70 27 12 39 13 68
Muscle-Liver-Brain-Eye Nanism 11 48 54 70
Perheentupa Syndrome 11 48 54 70
Pericardial Constriction and Growth Failure 11 48 70
 
Pericardial Constriction-Growth Failure Syndrome 54
Mulibrey Dwarfism 54
Nanism Mulibrey 50
Mul 70

Characteristics:

Orphanet epidemiological data:

54
mulibrey nanism:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: elderly

HPO:

64
mulibrey nanism:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 253250
Disease Ontology11 DOID:0050436
MeSH39 D050336
NCIt45 C84906
Orphanet54 ORPHA2576
SNOMED-CT62 81604003
MESH via Orphanet40 C538604, D050336
UMLS via Orphanet69 C0524582, C2931895
ICD10 via Orphanet31 Q87.1
MedGen37 C0524582

Summaries for Mulibrey Nanism

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NIH Rare Diseases:48 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 Array, Array and Array. 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 liver/biliary system.

UniProtKB/Swiss-Prot:70 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:52 Mulibrey nanism is a rare autosomal recessive growth disorder with prenatal onset, including occasional progressive... (253250) more...

Wikipedia:71 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 & Phenotypes 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:

 54 64 (show all 31)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly64 54 Very frequent (99-80%) HP:0000256
2 wide nasal bridge64 54 Frequent (79-30%) HP:0000431
3 reduced tendon reflexes64 54 Very frequent (99-80%) HP:0001315
4 intrauterine growth retardation64 54 Very frequent (99-80%) HP:0001511
5 high pitched voice64 54 Very frequent (99-80%) HP:0001620
6 hepatomegaly64 54 Frequent (79-30%) HP:0002240
7 j-shaped sella turcica64 54 Very frequent (99-80%) HP:0002680
8 short stature64 54 Very frequent (99-80%) HP:0004322
9 cachexia64 54 Very frequent (99-80%) HP:0004326
10 microglossia64 HP:0000171
11 dolichocephaly64 HP:0000268
12 hypertelorism64 HP:0000316
13 triangular face64 HP:0000325
14 astigmatism64 HP:0000483
15 strabismus64 HP:0000486
16 pigmentary retinopathy64 HP:0000580
17 hypodontia64 HP:0000668
18 dental crowding64 HP:0000678
19 muscular hypotonia64 HP:0001252
20 dysarthria64 HP:0001260
21 weak voice64 HP:0001621
22 congestive heart failure64 HP:0001635
23 myocardial fibrosis64 HP:0001685
24 frontal bossing64 HP:0002007
25 ventriculomegaly64 HP:0002119
26 nephroblastoma64 HP:0002667
27 absent frontal sinuses64 HP:0002688
28 hypoplastic frontal sinuses64 HP:0002738
29 nevus64 HP:0003764
30 pericardial constriction64 HP:0005132
31 depressed nasal bridge64 HP:0005280

MGI Mouse Phenotypes related to Mulibrey Nanism according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5PEX1, PEX5, PEX7, TRIM37

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 Syndrome27
2 Mulibrey Nanism24 TRIM37

Anatomical Context for Mulibrey Nanism

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MalaCards organs/tissues related to Mulibrey Nanism:

36
Liver, Brain, Eye, Heart

Publications for Mulibrey Nanism

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Articles related to Mulibrey Nanism:

(show all 50)
idTitleAuthorsYear
1
Renal findings in patients with Mulibrey nanism. (28432469)
2017
2
A stone was lifted from her heart: pericardial constriction in 28-year-old patient with Mulibrey nanism. (27150563)
2016
3
Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome. (28496510)
2016
4
Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism. (27044324)
2016
5
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing. (27256967)
2016
6
Report of two Syrian siblings with Mulibrey nanism. (26664725)
2015
7
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
8
Thoracoscopic pericardiectomy for constrictive pericarditis in a pediatric patient with mulibrey nanism. (24327644)
2013
9
Mulibrey nanism in a 35 year-old Iranian female with constrictive pericarditis. (25191351)
2011
10
Testicular failure and male infertility in the monogenic Mulibrey nanism disorder. (21865362)
2011
11
Mass ascites in Mulibrey nanism. (21175083)
2010
12
Where genetics and pathology meet: mulibrey nanism. (19347900)
2009
13
Gynecological tumors in Mulibrey nanism and role for RING finger protein TRIM37 in the pathogenesis of ovarian fibrothecomas. (19329943)
2009
14
High frequency of tumours in Mulibrey nanism. (19334051)
2009
15
Growth and growth hormone therapy in subjects with mulibrey nanism. (17548484)
2007
16
Cardiac dysfunction in children with mulibrey nanism. (17375349)
2007
17
A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy. (17551331)
2007
18
Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism. (17100991)
2006
19
Characterisation of the mulibrey nanism-associated TRIM37 gene: transcription initiation, promoter region and alternative splicing. (16310976)
2006
20
Tissue expression of the mulibrey nanism-associated Trim37 protein in embryonic and adult mouse tissues. (16514549)
2006
21
TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase. (15885686)
2005
22
Cardiac involvement in Mulibrey nanism: characterization with magnetic resonance imaging. (15347129)
2004
23
Novel mutations in the TRIM37 gene in Mulibrey Nanism. (15108285)
2004
24
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
25
Mulibrey nanism: clinical features and diagnostic criteria. (14757854)
2004
26
Failure of sexual maturation in Mulibrey nanism. (15590968)
2004
27
A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity. (12754710)
2003
28
Mulibrey nanism--a novel peroxisomal disorder. (14713209)
2003
29
The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder. (11938494)
2002
30
Gene encoding a new RING-B-box-coiled-coil protein is mutated in mulibrey nanism. (10888877)
2000
31
Assessment of mulibrey nanism cardiopathy with functional magnetic resonance imaging. (11187000)
2000
32
High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23. (10077533)
1999
33
Mulibrey nanism and Wilms tumor. (10377015)
1999
34
Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis. (9106536)
1997
35
Mulibrey nanism: three additional patients and a review of 39 patients. (7726235)
1995
36
Mulibrey nanism. (7735507)
1995
37
Peroxisomal functions in mulibrey nanism. (7837772)
1994
38
Antibody deficiency and isolated growth hormone deficiency in a girl with Mulibrey nanism. (8335020)
1993
39
Mulibrey nanism, an autosomal recessive syndrome with ocular involvement. (6818830)
1982
40
A case of Mulibrey nanism with associated Wilms' tumor. (6248277)
1980
41
Craniofacial and dental study of mulibrey nanism. (281281)
1978
42
Constrictive pericarditis with dwarfism in two siblings (mulibrey nanism). (1255313)
1976
43
Growth failure with pericardial constriction. The syndrome of mulibrey nanism. (135512)
1976
44
Mulibrey nanism: review of 23 cases of a new autosomal recessive syndrome. (1227534)
1975
45
Mulibrey nanism; an inherited dysmorphic syndrome with characteristic ocular findings. (4368935)
1974
46
The cardiopathy of mulibrey nanism, a new inherited syndrome. (4275521)
1974
47
Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction. (4124529)
1973
48
Letter: Mulibrey nanism v. hereditary congenital dwarfism with pericardial constriction. (4127361)
1973
49
So-called mulibrey nanism with pericardial constriction. (4125809)
1973
50
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:

70
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)SNVPathogenicrs121908391GRCh37Chr 17, 57161406: 57161406
7TRIM37NM_ 015294.4(TRIM37): c.860G> A (p.Ser287Asn)SNVPathogenic/ Likely 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
1aggresomeGO:001623510.4HSPA1B, TRIM37
2peroxisomal membraneGO:00057789.9PEX1, PEX5
3perinuclear region of cytoplasmGO:00484719.3HSPA1B, RAD51C, TRIM37
4peroxisomeGO:00057778.5PEX1, PEX5, PEX7, TRIM37
5cytoplasmGO:00057377.9HSPA1B, PEX1, PEX5, PEX7, RAD51C, TRIM37
6cytosolGO:00058297.8HSPA1B, PEX1, PEX5, PEX7, RAD51C, TRIM37

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of NF-kappaB transcription factor activityGO:005109210.2HSPA1B, TRIM37
2protein targeting to peroxisomeGO:000662510.2PEX1, PEX7
3fatty acid beta-oxidationGO:000663510.0PEX5, PEX7
4neuron migrationGO:000176410.0PEX5, PEX7
5peroxisome organizationGO:00070319.6PEX1, PEX5, PEX7
6protein import into peroxisome matrixGO:00165589.5PEX1, PEX5, PEX7
7protein transportGO:00150318.9PEX1, PEX5, PEX7

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

idNameGO IDScoreTop Affiliating Genes
1ATPase activity, coupledGO:004262310.1HSPA1B, PEX1
2enzyme bindingGO:00198999.3HSPA1B, PEX5, PEX7
3protein N-terminus bindingGO:00474859.3HSPA1B, PEX5

Sources for Mulibrey Nanism

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet