MCID: MLB001
MIFTS: 46

Mulibrey Nanism

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

Aliases & Classifications for Mulibrey Nanism

MalaCards integrated aliases for Mulibrey Nanism:

Name: Mulibrey Nanism 53 12 72 49 55 71 36 13 41 14 69
Muscle-Liver-Brain-Eye Nanism 53 12 49 55 71
Perheentupa Syndrome 53 12 49 55 71
Pericardial Constriction and Growth Failure 53 12 49 71
Pericardial Constriction-Growth Failure Syndrome 55
Pericardial Constriction with Growth Failure 72
Mulibrey Nanism Syndrome 28
Mulibrey Dwarfism 55
Nanism Mulibrey 51
Mul 71

Characteristics:

Orphanet epidemiological data:

55
mulibrey nanism
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: elderly;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
mulibrey is an acronym (muscle, liver, brain, and eyes)
most patients are from finland


HPO:

31
mulibrey nanism:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mulibrey Nanism

NIH Rare Diseases : 49 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 are Ubiquitin mediated proteolysis and Peroxisome. Affiliated tissues include brain, liver and eye, and related phenotype is liver/biliary system.

OMIM : 53 Mulibrey nanism is a rare autosomal recessive growth disorder with prenatal onset, including occasional progressive cardiomyopathy, characteristic facial features, failure of sexual maturation, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor (summary by Hamalainen et al., 2006). (253250)

UniProtKB/Swiss-Prot : 71 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 : 72 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 via clinical synopsis from OMIM:

53
HeadAndNeckFace:
frontal bossing
triangular face

NeurologicCentralNervousSystem:
dysarthria
normal intelligence
large cerebral ventricles and cisternae

HeadAndNeckEyes:
strabismus
astigmatism
mild hypertelorism
yellowish dots in fundi
decreased retinal pigmentation with dispersion
more
HeadAndNeckHead:
dolichocephaly

SkeletalSkull:
j-shaped sella turcica
absent or small frontal sinus
absent or small sphenoidal sinus

GrowthHeight:
short stature, prenatal onset
adult male height 136-161 cm
adult female height 126-151 cm
birth length 1.5-2 s.d. below mean

HeadAndNeckNose:
deep, broad nasal bridge

CardiovascularVascular:
elevated venous pressure

SkeletalLimbs:
fibrous dysplasia (especially tibia)

Voice:
weak, high-pitched voice

MuscleSoftTissue:
muscular hypotonia

AbdomenLiver:
hepatomegaly

CardiovascularHeart:
congestive heart failure
myocardial fibrosis
pericardial constriction
globular shaped heart on x-ray

HeadAndNeckTeeth:
dental crowding
hypodontia of second bicuspid

Neoplasia:
wilms tumor

GrowthWeight:
birth weight 1.5-2 s.d. below mean

HeadAndNeckMouth:
relatively small tongue

Skeletal:
normal bone age

SkinNailsHairSkin:
cutaneous nevi flammei (limbs)


Clinical features from OMIM:

253250

Human phenotypes related to Mulibrey Nanism:

55 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cachexia 55 31 hallmark (90%) Very frequent (99-80%) HP:0004326
2 macrocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000256
3 hepatomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0002240
4 wide nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0000431
5 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 intrauterine growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001511
7 reduced tendon reflexes 55 31 hallmark (90%) Very frequent (99-80%) HP:0001315
8 high pitched voice 55 31 hallmark (90%) Very frequent (99-80%) HP:0001620
9 j-shaped sella turcica 55 31 hallmark (90%) Very frequent (99-80%) HP:0002680
10 hypertelorism 31 HP:0000316
11 frontal bossing 31 HP:0002007
12 muscular hypotonia 31 HP:0001252
13 dysarthria 31 HP:0001260
14 depressed nasal bridge 31 HP:0005280
15 strabismus 31 HP:0000486
16 congestive heart failure 31 HP:0001635
17 dolichocephaly 31 HP:0000268
18 nevus 31 HP:0003764
19 ventriculomegaly 31 HP:0002119
20 dental crowding 31 HP:0000678
21 hypodontia 31 HP:0000668
22 triangular face 31 HP:0000325
23 weak voice 31 HP:0001621
24 nephroblastoma 31 HP:0002667
25 astigmatism 31 HP:0000483
26 hypoplastic frontal sinuses 31 HP:0002738
27 pigmentary retinopathy 31 HP:0000580
28 microglossia 31 HP:0000171
29 absent frontal sinuses 31 HP:0002688
30 myocardial fibrosis 31 HP:0001685
31 pericardial constriction 31 HP:0005132

MGI Mouse Phenotypes related to Mulibrey Nanism:

43
# 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:

# Genetic test Affiliating Genes
1 Mulibrey Nanism Syndrome 28 TRIM37

Anatomical Context for Mulibrey Nanism

MalaCards organs/tissues related to Mulibrey Nanism:

38
Brain, Liver, Eye, Heart, Bone, Tongue

Publications for Mulibrey Nanism

Articles related to Mulibrey Nanism:

(show top 50) (show all 51)
# Title Authors Year
1
New intragenic rearrangements in non-Finnish mulibrey nanism. ( 28815877 )
2017
2
Renal findings in patients with Mulibrey nanism. ( 28432469 )
2017
3
A stone was lifted from her heart: pericardial constriction in 28-year-old patient with Mulibrey nanism. ( 27150563 )
2016
4
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing. ( 27256967 )
2016
5
Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome. ( 28496510 )
2016
6
Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism. ( 27044324 )
2016
7
Report of two Syrian siblings with Mulibrey nanism. ( 26664725 )
2015
8
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
9
Thoracoscopic pericardiectomy for constrictive pericarditis in a pediatric patient with mulibrey nanism. ( 24327644 )
2013
10
Testicular failure and male infertility in the monogenic Mulibrey nanism disorder. ( 21865362 )
2011
11
Mulibrey nanism in a 35 year-old Iranian female with constrictive pericarditis. ( 25191351 )
2011
12
Mass ascites in Mulibrey nanism. ( 21175083 )
2010
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
Where genetics and pathology meet: mulibrey nanism. ( 19347900 )
2009
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
Growth and growth hormone therapy in subjects with mulibrey nanism. ( 17548484 )
2007
19
Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism. ( 17100991 )
2006
20
Tissue expression of the mulibrey nanism-associated Trim37 protein in embryonic and adult mouse tissues. ( 16514549 )
2006
21
Characterisation of the mulibrey nanism-associated TRIM37 gene: transcription initiation, promoter region and alternative splicing. ( 16310976 )
2006
22
TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase. ( 15885686 )
2005
23
Failure of sexual maturation in Mulibrey nanism. ( 15590968 )
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
Novel mutations in the TRIM37 gene in Mulibrey Nanism. ( 15108285 )
2004
27
Cardiac involvement in Mulibrey nanism: characterization with magnetic resonance imaging. ( 15347129 )
2004
28
A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity. ( 12754710 )
2003
29
Mulibrey nanism--a novel peroxisomal disorder. ( 14713209 )
2003
30
The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder. ( 11938494 )
2002
31
Assessment of mulibrey nanism cardiopathy with functional magnetic resonance imaging. ( 11187000 )
2000
32
Gene encoding a new RING-B-box-coiled-coil protein is mutated in mulibrey nanism. ( 10888877 )
2000
33
Mulibrey nanism and Wilms tumor. ( 10377015 )
1999
34
High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23. ( 10077533 )
1999
35
Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis. ( 9106536 )
1997
36
Mulibrey nanism. ( 7735507 )
1995
37
Mulibrey nanism: three additional patients and a review of 39 patients. ( 7726235 )
1995
38
Peroxisomal functions in mulibrey nanism. ( 7837772 )
1994
39
Antibody deficiency and isolated growth hormone deficiency in a girl with Mulibrey nanism. ( 8335020 )
1993
40
Mulibrey nanism, an autosomal recessive syndrome with ocular involvement. ( 6818830 )
1982
41
A case of Mulibrey nanism with associated Wilms' tumor. ( 6248277 )
1980
42
Craniofacial and dental study of mulibrey nanism. ( 281281 )
1978
43
Growth failure with pericardial constriction. The syndrome of mulibrey nanism. ( 135512 )
1976
44
Constrictive pericarditis with dwarfism in two siblings (mulibrey nanism). ( 1255313 )
1976
45
Mulibrey nanism: review of 23 cases of a new autosomal recessive syndrome. ( 1227534 )
1975
46
Mulibrey nanism; an inherited dysmorphic syndrome with characteristic ocular findings. ( 4368935 )
1974
47
The cardiopathy of mulibrey nanism, a new inherited syndrome. ( 4275521 )
1974
48
Letter: Mulibrey nanism v. hereditary congenital dwarfism with pericardial constriction. ( 4127361 )
1973
49
Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction. ( 4124529 )
1973
50
So-called mulibrey nanism with pericardial constriction. ( 4125809 )
1973

Variations for Mulibrey Nanism

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

71
# 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)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRIM37 NM_015294.4(TRIM37): c.1037_1040dupAGAT (p.Met347Ilefs) duplication Likely pathogenic rs386833999 GRCh37 Chromosome 17, 57134395: 57134398
2 TRIM37 NM_015294.4(TRIM37): c.1346dupA (p.Ser450Valfs) duplication Likely pathogenic rs386834000 GRCh37 Chromosome 17, 57126723: 57126723
3 TRIM37 NM_015294.4(TRIM37): c.1411C> T (p.Arg471Ter) single nucleotide variant Likely pathogenic rs386834001 GRCh37 Chromosome 17, 57126658: 57126658
4 TRIM37 NM_015294.4(TRIM37): c.1894_1895delGA (p.Glu632Lysfs) deletion Likely pathogenic rs386834002 GRCh37 Chromosome 17, 57109310: 57109311
5 TRIM37 NM_015294.4(TRIM37): c.2056C> T (p.Arg686Ter) single nucleotide variant Likely pathogenic rs386834003 GRCh37 Chromosome 17, 57105977: 57105977
6 TRIM37 NM_015294.4(TRIM37): c.2212delG (p.Glu738Asnfs) deletion Pathogenic rs386833416 GRCh37 Chromosome 17, 57105821: 57105821
7 TRIM37 NM_015294.4(TRIM37): c.227T> C (p.Leu76Pro) single nucleotide variant Likely pathogenic rs386834004 GRCh37 Chromosome 17, 57165706: 57165706
8 TRIM37 NM_015294.4(TRIM37): c.745C> T (p.Gln249Ter) single nucleotide variant Likely pathogenic rs386834005 GRCh37 Chromosome 17, 57148248: 57148248
9 TRIM37 NM_015294.4(TRIM37): c.810-1G> A single nucleotide variant Likely pathogenic rs386834006 GRCh37 Chromosome 17, 57141767: 57141767
10 TRIM37 NM_015294.4(TRIM37): c.838_842delACTTT (p.Thr280Cysfs) deletion Likely pathogenic rs386834007 GRCh37 Chromosome 17, 57141734: 57141738
11 TRIM37 NM_015294.4(TRIM37): c.965G> T (p.Gly322Val) single nucleotide variant Likely pathogenic rs386834009 GRCh37 Chromosome 17, 57138447: 57138447
12 TRIM37 TRIM37, 5-BP DEL, NT493 deletion Pathogenic
13 TRIM37 TRIM37, 1-BP DEL, 2212G deletion Pathogenic
14 TRIM37 TRIM37, 5-BP DEL, NT838 deletion Pathogenic
15 TRIM37 TRIM37, 1-BP INS, 1346A insertion Pathogenic
16 TRIM37 TRIM37, 8-BP DEL, NT855 deletion Pathogenic
17 TRIM37 NM_001005207.3(TRIM37): c.326G> C (p.Cys109Ser) single nucleotide variant Pathogenic rs121908391 GRCh37 Chromosome 17, 57161406: 57161406
18 TRIM37 NM_015294.4(TRIM37): c.860G> A (p.Ser287Asn) single nucleotide variant Pathogenic/Likely pathogenic rs386834008 GRCh37 Chromosome 17, 57141716: 57141716

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 KEGG:

36
# Name Kegg Source Accession
1 Ubiquitin mediated proteolysis hsa04120

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

# 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:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.73 PEX1 PEX5 PEX7 PSMC5 RAD51C TRIM37
2 cytosol GO:0005829 9.43 PEX1 PEX5 PEX7 PSMC5 RAD51C TRIM37
3 peroxisomal membrane GO:0005778 9.16 PEX1 PEX5
4 peroxisome GO:0005777 8.92 PEX1 PEX5 PEX7 TRIM37

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

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.54 PEX1 PEX5 PEX7
2 neuron migration GO:0001764 9.32 PEX5 PEX7
3 fatty acid beta-oxidation GO:0006635 9.26 PEX5 PEX7
4 protein targeting to peroxisome GO:0006625 9.16 PEX1 PEX7
5 peroxisome organization GO:0007031 9.13 PEX1 PEX5 PEX7
6 protein import into peroxisome matrix GO:0016558 8.8 PEX1 PEX5 PEX7

Sources for Mulibrey Nanism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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41 MeSH
42 MESH via Orphanet
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50 NINDS
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53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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