MCID: MLB001
MIFTS: 43

Mulibrey Nanism malady

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

Aliases & Classifications for Mulibrey Nanism

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 65UMLS, 47Novoseek, 24GTR, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Mulibrey Nanism:

Name: Mulibrey Nanism 49 10 11 45 22 12 51 67 36 65
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 Syndrome 51
Mulibrey Dwarfism 51
Mul 67

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
mulibrey nanism:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 253250
Disease Ontology10 DOID:0050436
MeSH36 D050336
NCIt42 C84906
Orphanet51 2576
SNOMED-CT59 81604003
ICD10 via Orphanet28 Q87.1
MESH via Orphanet37 C538604, D050336
UMLS via Orphanet66 C0524582, C2931895
MedGen34 C0524582
UMLS65 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 gastric cancer and rickets, and has symptoms including decreased body weight, short stature 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, eye and brain.

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 34)
id Description Frequency HPO Source Accession
1 decreased body weight hallmark (90%) HP:0004325
2 short stature hallmark (90%) HP:0004322
3 intrauterine growth retardation hallmark (90%) HP:0001511
4 reduced tendon reflexes hallmark (90%) HP:0001315
5 macrocephaly hallmark (90%) HP:0000256
6 hepatomegaly typical (50%) HP:0002240
7 wide nasal bridge typical (50%) HP:0000431
8 depressed nasal bridge HP:0005280
9 pericardial constriction HP:0005132
10 short stature HP:0004322
11 nevus HP:0003764
12 hypoplastic frontal sinuses HP:0002738
13 absent frontal sinuses HP:0002688
14 j-shaped sella turcica HP:0002680
15 nephroblastoma (wilms tumor) HP:0002667
16 hepatomegaly HP:0002240
17 ventriculomegaly HP:0002119
18 frontal bossing HP:0002007
19 myocardial fibrosis HP:0001685
20 congestive heart failure HP:0001635
21 weak voice HP:0001621
22 high pitched voice HP:0001620
23 dysarthria HP:0001260
24 muscular hypotonia HP:0001252
25 dental crowding HP:0000678
26 hypodontia HP:0000668
27 pigmentary retinopathy HP:0000580
28 strabismus HP:0000486
29 astigmatism HP:0000483
30 wide nasal bridge HP:0000431
31 triangular face HP:0000325
32 hypertelorism HP:0000316
33 dolichocephaly HP:0000268
34 microglossia HP:0000171

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

Anatomical Context for Mulibrey Nanism

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MalaCards organs/tissues related to Mulibrey Nanism:

33
Liver, Eye, Brain, Heart, Bone, Breast, Myeloid

Animal Models for Mulibrey Nanism or affiliated genes

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Publications for Mulibrey Nanism

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Articles related to Mulibrey Nanism:

(show all 44)
idTitleAuthorsYear
1
Percutaneous left atrial appendage closure-An alternative strategy for anticoagulation in atrial fibrillation and hereditary hemorrhagic telangiectasia? (25774347)
2015
2
Incidence of eclampsia with HELLP syndrome and associated mortality in Latin America. (25687238)
2015
3
Pediatric idiopathic hypereosinophilic syndrome with Gianotti-Crosti syndrome: a novel presentation. (24738625)
2014
4
Successful surgical repair of pentalogy of cantrell at 14 months of age. (24906266)
2014
5
Early and exudative age-related macular degeneration is associated with increased plasma levels of soluble TNF receptor II. (25363549)
2014
6
Effect of prophylactic 360A^ laser treatment for prevention of retinal detachment after phacovitrectomy: (Prophylactic 360A^ laser treatment for prevention of retinal detachment). (24325585)
2013
7
Clinical and molecular epidemiology of norovirus infection in adults with acute gastroenteritis in Ji'nan, China. (23754743)
2013
8
Association of genotypes at the matrix metalloproteinase (MMP) loci with carotid IMT and presence of carotid and femoral atherosclerotic plaques. (24043512)
2013
9
Pleomorphic spindle cell sarcoma (PSCS) formerly known as malignant fibrous histiocytoma (MFH): a complex malignant soft-tissue tumor. (23129168)
2012
10
Endovenous laser ablation for the treatment of varicose veins. (22205579)
2012
11
Transient ischemic attack associated with acute cytomegalovirus infection. (22246836)
2012
12
PAK1IP1, a ribosomal stress-induced nucleolar protein, regulates cell proliferation via the p53-MDM2 loop. (21097889)
2011
13
A case of MPO-ANCA-positive polyarteritis nodosa complicated by exudative otitis media, mononeuritis multiplex, and acute renal failure. (21611757)
2011
14
Autoimmune autonomic ganglionopathy with SjAPgren's syndrome: significance of ganglionic acetylcholine receptor antibody and therapeutic approach. (19097826)
2009
15
Statins do not decrease the risk for wet age-related macular degeneration. (19373579)
2009
16
CCL18 production is decreased in alveolar macrophages from cigarette smokers. (19357939)
2009
17
Skeletal muscle syntrophin interactors revealed by yeast two-hybrid assay. (18954030)
2008
18
On-chip oligonucleotide ligation assay using one-dimensional microfluidic beads array for the detection of low-abundant DNA point mutations. (17983740)
2008
19
Effect of ApoE genotype on response to donepezil in patients with Alzheimer's disease. (18401173)
2008
20
Membrane fusogenic activity of the Alzheimer's peptide A beta(1-42) demonstrated by small-angle neutron scattering. (18164313)
2008
21
Novel pyridyl-fused 3-amino chroman derivatives with dual action at serotonin transporter and 5-HT1A receptor. (17407811)
2007
22
Survivin expression is regulated by coexpression of human epidermal growth factor receptor 2 and epidermal growth factor receptor via phosphatidylinositol 3-kinase/AKT signaling pathway in breast cancer cells. (16322251)
2005
23
Fast and slow metabolizers of Hoasca. (16149329)
2005
24
Decreased cell proliferation and altered cytokine production in frail older adults. (15462470)
2004
25
Protein-predominant meals inhibit the development of gastric tachyarrhythmia, nausea and the symptoms of motion sickness. (14987327)
2004
26
Inferred functions of "novel" genes identified in fibroblasts chondroinduced by demineralized bone. (14965469)
2004
27
Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes. (14684696)
2003
28
Tumor necrosis factor and lipopolysaccharide affect periodontal ligament cells expressing osteoprotegerin in vitro]. (12930661)
2003
29
Polymorphism of insulin receptor substrate-1 gene in patients with coronary heart diseases]. (12910680)
2003
30
The impact of postprandial lipemia in accelerating atherothrombosis. (11143761)
2000
31
Novel association of haemophagocytic syndrome with Kaposi's sarcoma-associated herpesvirus-related primary effusion lymphoma. (11167749)
2000
32
Complete remission of hypereosinophilic syndrome after interferon-alpha therapy: report of a case and literature review. (10721659)
2000
33
Regulation of mitotic inhibitor Mik1 helps to enforce the DNA damage checkpoint. (10637286)
2000
34
Pharmacological characterization of glucocorticoid receptors in primary human bronchial epithelial cells. (10796070)
1999
35
Cerebral atherosclerosis in Parkinsonian patients. (18591095)
1998
36
Population-based study of glutathione S-transferase mu gene deletion in adult glioma cases and controls. (9230293)
1997
37
Substrate phosphorylation capacities of the major tyrosine protein kinase from the human promyelocytic cell line, HL-60. (8070974)
1994
38
Mapping genetic determinants for human immunodeficiency virus type 1 resistance to soluble CD4. (1373203)
1992
39
Colonisation by Pasteurella multocida in atrophic rhinitis of pigs and immunity to the osteolytic toxin. (2149226)
1990
40
Recognition by ELAM-1 of the sialyl-Lex determinant on myeloid and tumor cells. (1701275)
1990
41
Characterization of migration-stimulating factor (MSF): evidence for its role in cancer pathogenesis. (2292062)
1990
42
Nomenclature of fatty acid-binding proteins. (2266964)
1990
43
Bovine trichomoniasis in Bangladesh. (4412237)
1974
44
Treatment of hepatic coma. (13613857)
1959

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_001005207.3(TRIM37): c.326G> C (p.Cys109Ser)single nucleotide variantPathogenicrs121908391GRCh37Chr 17, 57161406: 57161406
7TRIM37NM_015294.4(TRIM37): c.860G> A (p.Ser287Asn)single nucleotide variantLikely pathogenic, 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)single nucleotide variantLikely 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)single nucleotide variantLikely 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)single nucleotide variantLikely pathogenicrs386834004GRCh37Chr 17, 57165706: 57165706
15TRIM37NM_015294.4(TRIM37): c.745C> T (p.Gln249Ter)single nucleotide variantLikely pathogenicrs386834005GRCh37Chr 17, 57148248: 57148248
16TRIM37NM_015294.4(TRIM37): c.810-1G> Asingle nucleotide variantLikely 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)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 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
1peroxisomeGO:00057779.6PEX1, TRIM37

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

idNameGO IDScoreTop Affiliating Genes
1neuron migrationGO:00017649.3PEX5, 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