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

Aliases & Descriptions for Mulibrey Nanism:

Name: Mulibrey Nanism 54 12 50 24 56 66 29 13 42 14 69
Muscle-Liver-Brain-Eye Nanism 12 50 56 66
Perheentupa Syndrome 12 50 56 66
Pericardial Constriction and Growth Failure 12 50 66
Pericardial Constriction-Growth Failure Syndrome 56
Mulibrey Dwarfism 56
Nanism Mulibrey 52
Mul 66

Characteristics:

Orphanet epidemiological data:

56
mulibrey nanism
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: elderly;

HPO:

32
mulibrey nanism:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 253250
Disease Ontology 12 DOID:0050436
MeSH 42 D050336
NCIt 47 C84906
SNOMED-CT 64 81604003
Orphanet 56 ORPHA2576
MESH via Orphanet 43 C538604 D050336
UMLS via Orphanet 70 C0524582 C2931895
ICD10 via Orphanet 34 Q87.1
MedGen 40 C0524582
UMLS 69 C0524582

Summaries for Mulibrey Nanism

NIH Rare Diseases : 50 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 cachexia, macrocephaly and hepatomegaly. An important gene associated with Mulibrey Nanism is TRIM37 (Tripartite Motif Containing 37), and among its related pathways/superpathways is Peroxisome. Affiliated tissues include eye, liver and brain, and related phenotype is liver/biliary system.

UniProtKB/Swiss-Prot : 66 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 : 54 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

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



Diseases related to Mulibrey Nanism

Symptoms & Phenotypes for Mulibrey Nanism

Symptoms by clinical synopsis from OMIM:

253250

Clinical features from OMIM:

253250

Human phenotypes related to Mulibrey Nanism:

56 32 (show all 31)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cachexia 56 32 Very frequent (99-80%) HP:0004326
2 macrocephaly 56 32 Very frequent (99-80%) HP:0000256
3 hepatomegaly 56 32 Frequent (79-30%) HP:0002240
4 wide nasal bridge 56 32 Frequent (79-30%) HP:0000431
5 short stature 56 32 Very frequent (99-80%) HP:0004322
6 reduced tendon reflexes 56 32 Very frequent (99-80%) HP:0001315
7 intrauterine growth retardation 56 32 Very frequent (99-80%) HP:0001511
8 high pitched voice 56 32 Very frequent (99-80%) HP:0001620
9 j-shaped sella turcica 56 32 Very frequent (99-80%) HP:0002680
10 hypertelorism 32 HP:0000316
11 frontal bossing 32 HP:0002007
12 muscular hypotonia 32 HP:0001252
13 dysarthria 32 HP:0001260
14 depressed nasal bridge 32 HP:0005280
15 strabismus 32 HP:0000486
16 congestive heart failure 32 HP:0001635
17 dolichocephaly 32 HP:0000268
18 nevus 32 HP:0003764
19 ventriculomegaly 32 HP:0002119
20 dental crowding 32 HP:0000678
21 hypodontia 32 HP:0000668
22 triangular face 32 HP:0000325
23 weak voice 32 HP:0001621
24 nephroblastoma 32 HP:0002667
25 astigmatism 32 HP:0000483
26 hypoplastic frontal sinuses 32 HP:0002738
27 pigmentary retinopathy 32 HP:0000580
28 microglossia 32 HP:0000171
29 absent frontal sinuses 32 HP:0002688
30 myocardial fibrosis 32 HP:0001685
31 pericardial constriction 32 HP:0005132

MGI Mouse Phenotypes related to Mulibrey Nanism:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 8.92 PEX1 PEX5 PEX7 TRIM37

Drugs & Therapeutics for Mulibrey Nanism

Search Clinical Trials , NIH Clinical Center for Mulibrey Nanism

Cochrane evidence based reviews: mulibrey nanism

Genetic Tests for Mulibrey Nanism

Genetic tests related to Mulibrey Nanism:

id Genetic test Affiliating Genes
1 Mulibrey Nanism Syndrome 29
2 Mulibrey Nanism 24 TRIM37

Anatomical Context for Mulibrey Nanism

MalaCards organs/tissues related to Mulibrey Nanism:

39
Eye, Liver, Brain, Heart

Publications for Mulibrey Nanism

Articles related to Mulibrey Nanism:

(show all 50)
id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 TRIM37 p.Leu76Pro VAR_060217 rs386834004
2 TRIM37 p.Cys109Ser VAR_060219 rs121908391
3 TRIM37 p.Gly322Val VAR_060220 rs386834009

ClinVar genetic disease variations for Mulibrey Nanism:

6 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1 TRIM37 TRIM37, 5-BP DEL, NT493 deletion Pathogenic
2 TRIM37 TRIM37, 1-BP DEL, 2212G deletion Pathogenic
3 TRIM37 TRIM37, 5-BP DEL, NT838 deletion Pathogenic
4 TRIM37 TRIM37, 1-BP INS, 1346A insertion Pathogenic
5 TRIM37 TRIM37, 8-BP DEL, NT855 deletion Pathogenic
6 TRIM37 NM_001005207.3(TRIM37): c.326G> C (p.Cys109Ser) single nucleotide variant Pathogenic rs121908391 GRCh37 Chromosome 17, 57161406: 57161406
7 TRIM37 NM_015294.4(TRIM37): c.860G> A (p.Ser287Asn) single nucleotide variant Pathogenic/Likely pathogenic rs386834008 GRCh37 Chromosome 17, 57141716: 57141716
8 TRIM37 NM_015294.4(TRIM37): c.1037_1040dupAGAT (p.Met347Ilefs) duplication Likely pathogenic rs386833999 GRCh37 Chromosome 17, 57134395: 57134398
9 TRIM37 NM_015294.4(TRIM37): c.1346dupA (p.Ser450Valfs) duplication Likely pathogenic rs386834000 GRCh37 Chromosome 17, 57126723: 57126723
10 TRIM37 NM_015294.4(TRIM37): c.1411C> T (p.Arg471Ter) single nucleotide variant Likely pathogenic rs386834001 GRCh37 Chromosome 17, 57126658: 57126658
11 TRIM37 NM_015294.4(TRIM37): c.1894_1895delGA (p.Glu632Lysfs) deletion Likely pathogenic rs386834002 GRCh37 Chromosome 17, 57109310: 57109311
12 TRIM37 NM_015294.4(TRIM37): c.2056C> T (p.Arg686Ter) single nucleotide variant Likely pathogenic rs386834003 GRCh37 Chromosome 17, 57105977: 57105977
13 TRIM37 NM_015294.4(TRIM37): c.2212delG (p.Glu738Asnfs) deletion Pathogenic rs386833416 GRCh37 Chromosome 17, 57105821: 57105821
14 TRIM37 NM_015294.4(TRIM37): c.227T> C (p.Leu76Pro) single nucleotide variant Likely pathogenic rs386834004 GRCh37 Chromosome 17, 57165706: 57165706
15 TRIM37 NM_015294.4(TRIM37): c.745C> T (p.Gln249Ter) single nucleotide variant Likely pathogenic rs386834005 GRCh37 Chromosome 17, 57148248: 57148248
16 TRIM37 NM_015294.4(TRIM37): c.810-1G> A single nucleotide variant Likely pathogenic rs386834006 GRCh37 Chromosome 17, 57141767: 57141767
17 TRIM37 NM_015294.4(TRIM37): c.838_842delACTTT (p.Thr280Cysfs) deletion Likely pathogenic rs386834007 GRCh37 Chromosome 17, 57141734: 57141738
18 TRIM37 NM_015294.4(TRIM37): c.965G> T (p.Gly322Val) single nucleotide variant Likely pathogenic rs386834009 GRCh37 Chromosome 17, 57138447: 57138447

Expression for Mulibrey Nanism

Search GEO for disease gene expression data for Mulibrey Nanism.

Pathways for Mulibrey Nanism

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

id Super pathways Score Top Affiliating Genes
1 10.72 PEX1 PEX5 PEX7

GO Terms for Mulibrey Nanism

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

id Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.8 HSPA1B PEX1 PEX5 PEX7 RAD51C TRIM37
2 cytosol GO:0005829 9.63 HSPA1B PEX1 PEX5 PEX7 RAD51C TRIM37
3 perinuclear region of cytoplasm GO:0048471 9.54 HSPA1B RAD51C TRIM37
4 peroxisomal membrane GO:0005778 9.26 PEX1 PEX5
5 aggresome GO:0016235 8.96 HSPA1B TRIM37
6 peroxisome GO:0005777 8.92 PEX1 PEX5 PEX7 TRIM37

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

id Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.54 PEX1 PEX5 PEX7
2 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.4 HSPA1B TRIM37
3 neuron migration GO:0001764 9.32 PEX5 PEX7
4 fatty acid beta-oxidation GO:0006635 9.26 PEX5 PEX7
5 protein targeting to peroxisome GO:0006625 9.16 PEX1 PEX7
6 peroxisome organization GO:0007031 9.13 PEX1 PEX5 PEX7
7 protein import into peroxisome matrix GO:0016558 8.8 PEX1 PEX5 PEX7

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

id Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 9.16 HSPA1B PEX5
2 enzyme binding GO:0019899 9.13 HSPA1B PEX5 PEX7
3 ATPase activity, coupled GO:0042623 8.62 HSPA1B PEX1

Sources for Mulibrey Nanism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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