MCID: MLB001
MIFTS: 46

Mulibrey Nanism

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

Aliases & Classifications for Mulibrey Nanism

MalaCards integrated aliases for Mulibrey Nanism:

Name: Mulibrey Nanism 57 12 76 53 59 75 37 13 44 15 40 73
Muscle-Liver-Brain-Eye Nanism 57 12 53 59 75
Perheentupa Syndrome 57 12 53 59 75
Pericardial Constriction and Growth Failure 57 12 53 75
Mulibrey Nanism Syndrome 29 6
Pericardial Constriction-Growth Failure Syndrome 59
Pericardial Constriction with Growth Failure 76
Mulibrey Dwarfism 59
Nanism Mulibrey 55
Mul 75

Characteristics:

Orphanet epidemiological data:

59
mulibrey nanism
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: elderly;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
mulibrey nanism:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mulibrey Nanism

NIH Rare Diseases : 53 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.

MalaCards based summary : Mulibrey Nanism, also known as muscle-liver-brain-eye nanism, is related to peroxisomal disease and constrictive pericarditis. 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 phenotypes are macrocephaly and hepatomegaly

OMIM : 57 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 : 75 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 : 76 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:

57
Head And Neck Face:
frontal bossing
triangular face

Neurologic Central Nervous System:
dysarthria
normal intelligence
large cerebral ventricles and cisternae

Head And Neck Eyes:
strabismus
astigmatism
mild hypertelorism
yellowish dots in fundi
decreased retinal pigmentation with dispersion
more
Head And Neck Head:
dolichocephaly

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

Growth Height:
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

Head And Neck Nose:
deep, broad nasal bridge

Cardiovascular Vascular:
elevated venous pressure

Skeletal Limbs:
fibrous dysplasia (especially tibia)

Voice:
weak, high-pitched voice

Muscle Soft Tissue:
muscular hypotonia

Abdomen Liver:
hepatomegaly

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

Head And Neck Teeth:
dental crowding
hypodontia of second bicuspid

Neoplasia:
wilms tumor

Growth Weight:
birth weight 1.5-2 s.d. below mean

Head And Neck Mouth:
relatively small tongue

Skeletal:
normal bone age

Skin Nails Hair Skin:
cutaneous nevi flammei (limbs)


Clinical features from OMIM:

253250

Human phenotypes related to Mulibrey Nanism:

59 32 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
3 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
4 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
5 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
6 reduced tendon reflexes 59 32 hallmark (90%) Very frequent (99-80%) HP:0001315
7 cachexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004326
8 high pitched voice 59 32 hallmark (90%) Very frequent (99-80%) HP:0001620
9 j-shaped sella turcica 59 32 hallmark (90%) 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.35 PEX1 PEX5 PEX7 RAD51C TRIM37
2 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 29 TRIM37

Anatomical Context for Mulibrey Nanism

MalaCards organs/tissues related to Mulibrey Nanism:

41
Brain, Liver, Eye, Heart, Bone, Tongue

Publications for Mulibrey Nanism

Articles related to Mulibrey Nanism:

(show top 50) (show all 53)
# Title Authors Year
1
Successful Total Pericardiectomy for Constrictive Pericarditis in the First Series of Japanese Patients With Mulibrey Nanism. ( 29731032 )
2018
2
Premature ovarian insufficiency and early depletion of the ovarian reserve in the monogenic Mulibrey nanism disorder. ( 29860321 )
2018
3
Renal findings in patients with Mulibrey nanism. ( 28432469 )
2017
4
New intragenic rearrangements in non-Finnish mulibrey nanism. ( 28815877 )
2017
5
Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome. ( 28496510 )
2016
6
A stone was lifted from her heart: pericardial constriction in 28-year-old patient with Mulibrey nanism. ( 27150563 )
2016
7
Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism. ( 27044324 )
2016
8
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing. ( 27256967 )
2016
9
Report of two Syrian siblings with Mulibrey nanism. ( 26664725 )
2015
10
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
11
Thoracoscopic pericardiectomy for constrictive pericarditis in a pediatric patient with mulibrey nanism. ( 24327644 )
2013
12
Testicular failure and male infertility in the monogenic Mulibrey nanism disorder. ( 21865362 )
2011
13
Mulibrey nanism in a 35 year-old Iranian female with constrictive pericarditis. ( 25191351 )
2011
14
Mass ascites in Mulibrey nanism. ( 21175083 )
2010
15
Gynecological tumors in Mulibrey nanism and role for RING finger protein TRIM37 in the pathogenesis of ovarian fibrothecomas. ( 19329943 )
2009
16
Where genetics and pathology meet: mulibrey nanism. ( 19347900 )
2009
17
High frequency of tumours in Mulibrey nanism. ( 19334051 )
2009
18
Growth and growth hormone therapy in subjects with mulibrey nanism. ( 17548484 )
2007
19
Cardiac dysfunction in children with mulibrey nanism. ( 17375349 )
2007
20
A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy. ( 17551331 )
2007
21
Tissue expression of the mulibrey nanism-associated Trim37 protein in embryonic and adult mouse tissues. ( 16514549 )
2006
22
Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism. ( 17100991 )
2006
23
Characterisation of the mulibrey nanism-associated TRIM37 gene: transcription initiation, promoter region and alternative splicing. ( 16310976 )
2006
24
TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase. ( 15885686 )
2005
25
Novel mutations in the TRIM37 gene in Mulibrey Nanism. ( 15108285 )
2004
26
Mulibrey nanism: clinical features and diagnostic criteria. ( 14757854 )
2004
27
Failure of sexual maturation in Mulibrey nanism. ( 15590968 )
2004
28
Cardiac involvement in Mulibrey nanism: characterization with magnetic resonance imaging. ( 15347129 )
2004
29
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
30
Mulibrey nanism--a novel peroxisomal disorder. ( 14713209 )
2003
31
A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity. ( 12754710 )
2003
32
The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder. ( 11938494 )
2002
33
Gene encoding a new RING-B-box-coiled-coil protein is mutated in mulibrey nanism. ( 10888877 )
2000
34
Assessment of mulibrey nanism cardiopathy with functional magnetic resonance imaging. ( 11187000 )
2000
35
High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23. ( 10077533 )
1999
36
Mulibrey nanism and Wilms tumor. ( 10377015 )
1999
37
Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis. ( 9106536 )
1997
38
Mulibrey nanism: three additional patients and a review of 39 patients. ( 7726235 )
1995
39
Mulibrey nanism. ( 7735507 )
1995
40
Peroxisomal functions in mulibrey nanism. ( 7837772 )
1994
41
Antibody deficiency and isolated growth hormone deficiency in a girl with Mulibrey nanism. ( 8335020 )
1993
42
Mulibrey nanism, an autosomal recessive syndrome with ocular involvement. ( 6818830 )
1982
43
A case of Mulibrey nanism with associated Wilms' tumor. ( 6248277 )
1980
44
Craniofacial and dental study of mulibrey nanism. ( 281281 )
1978
45
Growth failure with pericardial constriction. The syndrome of mulibrey nanism. ( 135512 )
1976
46
Constrictive pericarditis with dwarfism in two siblings (mulibrey nanism). ( 1255313 )
1976
47
Mulibrey nanism: review of 23 cases of a new autosomal recessive syndrome. ( 1227534 )
1975
48
The cardiopathy of mulibrey nanism, a new inherited syndrome. ( 4275521 )
1974
49
Mulibrey nanism; an inherited dysmorphic syndrome with characteristic ocular findings. ( 4368935 )
1974
50
Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction. ( 4124529 )
1973

Variations for Mulibrey Nanism

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

75
# 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 top 50) (show all 135)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRIM37 TRIM37, 5-BP DEL, NT838 deletion Pathogenic
2 TRIM37 TRIM37, 5-BP DEL, NT493 deletion Pathogenic
3 TRIM37 TRIM37, 1-BP DEL, 2212G 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_001005207.3(TRIM37): c.326G> C (p.Cys109Ser) single nucleotide variant Pathogenic rs121908391 GRCh38 Chromosome 17, 59084045: 59084045
8 TRIM37 NM_015294.4(TRIM37): c.860G> A (p.Ser287Asn) single nucleotide variant Pathogenic/Likely pathogenic rs386834008 GRCh37 Chromosome 17, 57141716: 57141716
9 TRIM37 NM_015294.4(TRIM37): c.860G> A (p.Ser287Asn) single nucleotide variant Pathogenic/Likely pathogenic rs386834008 GRCh38 Chromosome 17, 59064355: 59064355
10 TRIM37 NM_015294.4(TRIM37): c.1037_1040dupAGAT (p.Met347Ilefs) duplication Likely pathogenic rs386833999 GRCh37 Chromosome 17, 57134395: 57134398
11 TRIM37 NM_015294.4(TRIM37): c.1037_1040dupAGAT (p.Met347Ilefs) duplication Likely pathogenic rs386833999 GRCh38 Chromosome 17, 59057034: 59057037
12 TRIM37 NM_015294.4(TRIM37): c.1346dupA (p.Ser450Valfs) duplication Likely pathogenic rs386834000 GRCh37 Chromosome 17, 57126723: 57126723
13 TRIM37 NM_015294.4(TRIM37): c.1346dupA (p.Ser450Valfs) duplication Likely pathogenic rs386834000 GRCh38 Chromosome 17, 59049362: 59049362
14 TRIM37 NM_015294.4(TRIM37): c.1411C> T (p.Arg471Ter) single nucleotide variant Likely pathogenic rs386834001 GRCh37 Chromosome 17, 57126658: 57126658
15 TRIM37 NM_015294.4(TRIM37): c.1411C> T (p.Arg471Ter) single nucleotide variant Likely pathogenic rs386834001 GRCh38 Chromosome 17, 59049297: 59049297
16 TRIM37 NM_015294.4(TRIM37): c.1894_1895delGA (p.Glu632Lysfs) deletion Likely pathogenic rs386834002 GRCh37 Chromosome 17, 57109310: 57109311
17 TRIM37 NM_015294.4(TRIM37): c.1894_1895delGA (p.Glu632Lysfs) deletion Likely pathogenic rs386834002 GRCh38 Chromosome 17, 59031949: 59031950
18 TRIM37 NM_015294.4(TRIM37): c.2056C> T (p.Arg686Ter) single nucleotide variant Likely pathogenic rs386834003 GRCh37 Chromosome 17, 57105977: 57105977
19 TRIM37 NM_015294.4(TRIM37): c.2056C> T (p.Arg686Ter) single nucleotide variant Likely pathogenic rs386834003 GRCh38 Chromosome 17, 59028616: 59028616
20 TRIM37 NM_015294.4(TRIM37): c.2212delG (p.Glu738Asnfs) deletion Pathogenic rs386833416 GRCh37 Chromosome 17, 57105821: 57105821
21 TRIM37 NM_015294.4(TRIM37): c.2212delG (p.Glu738Asnfs) deletion Pathogenic rs386833416 GRCh38 Chromosome 17, 59028460: 59028460
22 TRIM37 NM_015294.4(TRIM37): c.227T> C (p.Leu76Pro) single nucleotide variant Likely pathogenic rs386834004 GRCh37 Chromosome 17, 57165706: 57165706
23 TRIM37 NM_015294.4(TRIM37): c.227T> C (p.Leu76Pro) single nucleotide variant Likely pathogenic rs386834004 GRCh38 Chromosome 17, 59088345: 59088345
24 TRIM37 NM_015294.4(TRIM37): c.745C> T (p.Gln249Ter) single nucleotide variant Likely pathogenic rs386834005 GRCh37 Chromosome 17, 57148248: 57148248
25 TRIM37 NM_015294.4(TRIM37): c.745C> T (p.Gln249Ter) single nucleotide variant Likely pathogenic rs386834005 GRCh38 Chromosome 17, 59070887: 59070887
26 TRIM37 NM_015294.4(TRIM37): c.810-1G> A single nucleotide variant Likely pathogenic rs386834006 GRCh37 Chromosome 17, 57141767: 57141767
27 TRIM37 NM_015294.4(TRIM37): c.810-1G> A single nucleotide variant Likely pathogenic rs386834006 GRCh38 Chromosome 17, 59064406: 59064406
28 TRIM37 NM_015294.4(TRIM37): c.838_842delACTTT (p.Thr280Cysfs) deletion Likely pathogenic rs386834007 GRCh37 Chromosome 17, 57141734: 57141738
29 TRIM37 NM_015294.4(TRIM37): c.838_842delACTTT (p.Thr280Cysfs) deletion Likely pathogenic rs386834007 GRCh38 Chromosome 17, 59064373: 59064377
30 TRIM37 NM_015294.4(TRIM37): c.965G> T (p.Gly322Val) single nucleotide variant Likely pathogenic rs386834009 GRCh37 Chromosome 17, 57138447: 57138447
31 TRIM37 NM_015294.4(TRIM37): c.965G> T (p.Gly322Val) single nucleotide variant Likely pathogenic rs386834009 GRCh38 Chromosome 17, 59061086: 59061086
32 TRIM37 NM_015294.4(TRIM37): c.2049C> T (p.Ala683=) single nucleotide variant Conflicting interpretations of pathogenicity rs35871562 GRCh37 Chromosome 17, 57105984: 57105984
33 TRIM37 NM_015294.4(TRIM37): c.2049C> T (p.Ala683=) single nucleotide variant Conflicting interpretations of pathogenicity rs35871562 GRCh38 Chromosome 17, 59028623: 59028623
34 TRIM37 NM_015294.4(TRIM37): c.1919G> A (p.Arg640His) single nucleotide variant Uncertain significance rs112762655 GRCh37 Chromosome 17, 57109286: 57109286
35 TRIM37 NM_015294.4(TRIM37): c.1919G> A (p.Arg640His) single nucleotide variant Uncertain significance rs112762655 GRCh38 Chromosome 17, 59031925: 59031925
36 TRIM37 NM_015294.4(TRIM37): c.2577-7C> G single nucleotide variant Conflicting interpretations of pathogenicity rs199694001 GRCh37 Chromosome 17, 57089814: 57089814
37 TRIM37 NM_015294.4(TRIM37): c.2577-7C> G single nucleotide variant Conflicting interpretations of pathogenicity rs199694001 GRCh38 Chromosome 17, 59012453: 59012453
38 TRIM37 NM_015294.4(TRIM37): c.*759T> C single nucleotide variant Uncertain significance rs191702204 GRCh38 Chromosome 17, 58998618: 58998618
39 TRIM37 NM_015294.4(TRIM37): c.*759T> C single nucleotide variant Uncertain significance rs191702204 GRCh37 Chromosome 17, 57075979: 57075979
40 TRIM37 NM_015294.4(TRIM37): c.*622T> C single nucleotide variant Uncertain significance rs886053172 GRCh38 Chromosome 17, 58998755: 58998755
41 TRIM37 NM_015294.4(TRIM37): c.*622T> C single nucleotide variant Uncertain significance rs886053172 GRCh37 Chromosome 17, 57076116: 57076116
42 TRIM37 NM_015294.4(TRIM37): c.2754T> C (p.His918=) single nucleotide variant Uncertain significance rs746826852 GRCh38 Chromosome 17, 59001656: 59001656
43 TRIM37 NM_015294.4(TRIM37): c.2754T> C (p.His918=) single nucleotide variant Uncertain significance rs746826852 GRCh37 Chromosome 17, 57079017: 57079017
44 TRIM37 NM_015294.4(TRIM37): c.1446C> T (p.Leu482=) single nucleotide variant Uncertain significance rs774383633 GRCh38 Chromosome 17, 59049262: 59049262
45 TRIM37 NM_015294.4(TRIM37): c.1446C> T (p.Leu482=) single nucleotide variant Uncertain significance rs774383633 GRCh37 Chromosome 17, 57126623: 57126623
46 TRIM37 NM_015294.4(TRIM37): c.1178A> G (p.Gln393Arg) single nucleotide variant Uncertain significance rs761341418 GRCh38 Chromosome 17, 59056896: 59056896
47 TRIM37 NM_015294.4(TRIM37): c.1178A> G (p.Gln393Arg) single nucleotide variant Uncertain significance rs761341418 GRCh37 Chromosome 17, 57134257: 57134257
48 TRIM37 NM_015294.4(TRIM37): c.943-7_943-5delCTT deletion Uncertain significance rs886053177 GRCh38 Chromosome 17, 59061113: 59061115
49 TRIM37 NM_015294.4(TRIM37): c.943-7_943-5delCTT deletion Uncertain significance rs886053177 GRCh37 Chromosome 17, 57138474: 57138476
50 TRIM37 NM_015294.4(TRIM37): c.828C> T (p.Tyr276=) single nucleotide variant Uncertain significance rs776019614 GRCh38 Chromosome 17, 59064387: 59064387

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:

37
# 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

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