MCID: MLB001
MIFTS: 55

Mulibrey Nanism malady

Fetal diseases, Neuronal diseases, Liver diseases categories

Summaries for Mulibrey Nanism

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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: Mulibrey Nanism, also known as muscle-liver-brain-eye nanism, is related to dwarfism and constrictive pericarditis, and has symptoms including intrauterine growth retardation, areflexia/hyporeflexia and wasted (excluding lipodystrophy)/poorly muscled build/cachexy. An important gene associated with Mulibrey Nanism is TRIM37 (tripartite motif containing 37), and among its related pathways are Peroxisome and Cellular response to hypoxia. Affiliated tissues include liver, eye and brain, and related mouse phenotypes are embryogenesis and growth/size.

Wikipedia:63 Mulibrey nanism (\"MUscle-LIver-BRain-EYe nanism\"), also called Perheentupa syndrome and pericardial... more...

Description from OMIM:46 253250

Aliases & Classifications for Mulibrey Nanism

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Neuronal diseases, Liver diseases


Characteristics (Orphanet epidemiological data):

48
mulibrey nanism:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Elderly


Aliases & Descriptions:

mulibrey nanism 8 9 42 20 22 46 10 48 60
muscle-liver-brain-eye nanism 8 42 48
perheentupa syndrome 8 42 48
pericardial constriction and growth failure 8 42
pericardial constriction - growth failure 48
mulibrey dwarfism 48
nanism mulibrey 44


External Ids:

Disease Ontology8 DOID:0050436
OMIM46 253250
MeSH34 D050336
ICD10 via Orphanet26 Q87.1
SNOMED-CT via Orphanet57 81604003
UMLS via Orphanet61 C0524582, C2931895
MESH via Orphanet35 C538604, D050336

Related Diseases for Mulibrey Nanism

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Mulibrey Nanism:



Diseases related to mulibrey nanism

Clinical Features for Mulibrey Nanism

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46OMIM, 48Orphanet
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Clinical features from OMIM:

253250

Clinical synopsis from OMIM:

253250

Symptoms:

48 (show all 9)
  • intrauterine growth retardation
  • areflexia/hyporeflexia
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • broad nasal root
  • abnormal cry/voice/phonation disorder/nasal speech
  • short stature/dwarfism/nanism
  • hepatomegaly/liver enlargement (excluding storage disease)
  • autosomal recessive inheritance
  • macrocephaly/macrocrania/megalocephaly/megacephaly

Drugs & Therapeutics for Mulibrey Nanism

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Mulibrey Nanism

Drug clinical trials:

Search ClinicalTrials for Mulibrey Nanism

Search NIH Clinical Center for Mulibrey Nanism

Search CenterWatch for Mulibrey Nanism

Genetic Tests for Mulibrey Nanism

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20GeneTests, 22GTR
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Genetic tests related to Mulibrey Nanism:

id Genetic test Affiliating Genes
1 Mulibrey Nanism20 TRIM37
2 Mulibrey Nanism Syndrome22

Anatomical Context for Mulibrey Nanism

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32MalaCards
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MalaCards organs/tissues related to Mulibrey Nanism:

32
Liver, Eye, Brain, Heart

Animal Models for Mulibrey Nanism or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Mulibrey Nanism:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.5USP7, RBX1, TRAF4, RAD51C, CUL7, TMEM67
2MP:00053787.7PEX5, HSPA1B, UBB, USP7, RBX1, TRAF4
3MP:00107687.5USP7, RBX1, TRAF4, RAD51C, CUL7, TMEM67
4MP:00053847.2HSPA1B, RBX1, TRAF5, TRAF4, CUL7, TMEM67

Publications for Mulibrey Nanism

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50PubMed
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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
Mass ascites in Mulibrey nanism. (21175083)
2010
5
High frequency of tumours in Mulibrey nanism. (19334051)
2009
6
Where genetics and pathology meet: mulibrey nanism. (19347900)
2009
7
Gynecological tumors in Mulibrey nanism and role for RING finger protein TRIM37 in the pathogenesis of ovarian fibrothecomas. (19329943)
2009
8
Growth and growth hormone therapy in subjects with mulibrey nanism. (17548484)
2007
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

Genetic Variations for Mulibrey Nanism

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Mulibrey Nanism:

62
id Symbol AA change Variation ID SNP ID
1TRIM37p.Leu76ProVAR_060217
2TRIM37p.Cys109SerVAR_060219
3TRIM37p.Gly322ValVAR_060220

Expression for genes affiliated with Mulibrey Nanism

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mulibrey Nanism

Search GEO for disease gene expression data for Mulibrey Nanism.

Pathways for genes affiliated with Mulibrey Nanism

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29KEGG, 53Reactome, 51QIAGEN, 37NCBI BioSystems Database, 12EMD Millipore
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Pathways related to Mulibrey Nanism according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9PEX1, PEX7, PEX5
2
Hide members
9.7RBX1, UBB
39.5USP7, PSMC5, UBB
4
Hide members
9.4TRAF4, TRAF5, HSPA1B
59.4HSPA1B, UBB, RBX1
69.4RBX1, UBB, HSPA1B
7
Hide members
9.3UBB, TRAF5, TRAF4
89.1TRAF5, USP7, PSMC5, HSPA1B
9
Hide members
9.1RBX1, PSMC5, UBB, HSPA1B
10
Hide members
8.9CUL7, TRIM37, RBX1, PSMC5, UBB

Compounds for genes affiliated with Mulibrey Nanism

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GO Terms for genes affiliated with Mulibrey Nanism

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16Gene Ontology
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Cellular components related to Mulibrey Nanism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1aggresomeGO:0162359.7TRIM37, HSPA1B
2peroxisomeGO:0057779.6TRIM37, PEX1, PEX7, PEX5
3Cul3-RING ubiquitin ligase complexGO:0314639.5SPOP, RBX1
4perinuclear region of cytoplasmGO:0484719.0HSPA1B, TRIM37, TRAF4, RAD51C, CUL7, OBSL1
5cytosolGO:0058296.6PEX5, BBOX1, HSPA1B, UBB, PSMC5, USP7

Biological processes related to Mulibrey Nanism according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1protein targeting to peroxisomeGO:00662510.1PEX5, PEX1
2protein import into peroxisome matrixGO:01655810.0PEX5, PEX7, PEX1
3positive regulation of dendrite morphogenesisGO:0507759.9OBSL1, CUL7
4peroxisome organizationGO:0070319.8PEX7, PEX1
5regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:0614189.7RBX1, UBB
6proteasomal ubiquitin-dependent protein catabolic processGO:0431619.2PSMC5, RBX1, SPOP
7regulation of apoptotic processGO:0429819.1TRAF4, TRAF5, PSMC5, UBB

Molecular functions related to Mulibrey Nanism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein C-terminus bindingGO:0080229.8PEX5, PEX1, USP7
2thioesterase bindingGO:0319969.6TRAF4, TRAF5
3ubiquitin-protein ligase activityGO:0048428.9RBX1, TRIM17, TRAF5, TRIM37, TRAF4
4zinc ion bindingGO:0082708.1BBOX1, RBX1, TRIM17, TRAF5, TRIM37, TRAF4
5ubiquitin protein ligase bindingGO:0316257.9SPOP, HSPA1B, USP7, RBX1, TRAF5, TRIM37
6protein bindingGO:0055154.9TRIM17, RBX1, USP7, PPM1E, PSMC5, UBB

Products for genes affiliated with Mulibrey Nanism

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Sources for Mulibrey Nanism

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet