MUL
MCID: MLB001
MIFTS: 51

Mulibrey Nanism (MUL)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Mulibrey Nanism

MalaCards integrated aliases for Mulibrey Nanism:

Name: Mulibrey Nanism 57 12 73 20 58 72 36 13 44 15 39 70
Muscle-Liver-Brain-Eye Nanism 57 12 20 58 72
Pericardial Constriction and Growth Failure 57 12 20 72
Perheentupa Syndrome 57 12 20 72
Mul 12 73 58 72
Mulibrey Growth Disorder 12 58
Mulibrey Nanism Syndrome 29 6
Pericardial Constriction with Growth Failure 73
Nanism Mulibrey 54

Characteristics:

Orphanet epidemiological data:

58
mulibrey nanism
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: elderly;

OMIM®:

57 (Updated 05-Apr-2021)
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:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050436
OMIM® 57 253250
KEGG 36 H01289
MeSH 44 D050336
NCIt 50 C84906
SNOMED-CT 67 81604003
MESH via Orphanet 45 C538604 D050336
ICD10 via Orphanet 33 Q87.1
UMLS via Orphanet 71 C0524582 C2931895
Orphanet 58 ORPHA2576
MedGen 41 C0524582
UMLS 70 C0524582

Summaries for Mulibrey Nanism

GARD : 20 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 autosomal recessive disease. An important gene associated with Mulibrey Nanism is TRIM37 (Tripartite Motif Containing 37), and among its related pathways/superpathways are Ubiquitin mediated proteolysis and Cellular Senescence (REACTOME). Affiliated tissues include liver, eye and brain, and related phenotypes are macrocephaly and short stature

Disease Ontology : 12 A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has material basis in mutations in the TRIM37 gene.

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) (Updated 05-Apr-2021)

KEGG : 36 Mulibrey nanism is an autosomal recessive growth disorder characterized by prenatal-onset growth failure and heart disease involving constrictive pericarditis and restrictive cardiomyopathy. Mutations in the TRIM37 gene have been reported in Mulibrey nanism patients.

UniProtKB/Swiss-Prot : 72 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 : 73 Mulibrey nanism ("MUscle-LIver-BRain-EYe nanism"), is a rare autosomal recessive congenital disorder. It... more...

Related Diseases for Mulibrey Nanism

Diseases related to Mulibrey Nanism via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 peroxisomal disease 30.7 TRIM37 PEX7 PEX5 PEX1
2 autosomal recessive disease 10.6
3 constrictive pericarditis 10.6
4 pericarditis 10.6
5 acid-labile subunit deficiency 10.4
6 fibrous dysplasia 10.4
7 congestive heart failure 10.4
8 infertility 10.3
9 dwarfism 10.3
10 rhizomelic chondrodysplasia punctata, type 5 10.3 PEX7 PEX5
11 peroxisomal biogenesis disorder 10.3 PEX7 PEX5 PEX1
12 refsum disease, classic 10.3 PEX7 PEX5 PEX1
13 silver-russell syndrome 1 10.2
14 fatty liver disease 10.2
15 diencephalic syndrome 10.2
16 rhizomelic chondrodysplasia punctata 10.2 PEX7 PEX5 PEX1
17 peroxisome biogenesis disorder 1b 10.2 PEX7 PEX5 PEX1
18 rhizomelic chondrodysplasia punctata, type 3 10.2 PEX7 PEX5
19 adrenoleukodystrophy 10.2 PEX7 PEX5 PEX1
20 cleft palate, isolated 10.1
21 chromosome 2q35 duplication syndrome 10.1
22 wilms tumor 1 10.1
23 meckel syndrome, type 1 10.1
24 langerhans cell histiocytosis 10.1
25 pulmonary hypertension 10.1
26 isolated growth hormone deficiency 10.1
27 non-alcoholic fatty liver disease 10.1
28 heart disease 10.1
29 hemopericardium 10.1
30 pericardial effusion 10.1
31 male infertility 10.1
32 patent foramen ovale 10.1
33 amenorrhea 10.1
34 azoospermia 10.1
35 hypogonadism 10.1
36 endometrial adenocarcinoma 10.1
37 mesenchymal cell neoplasm 10.1
38 histiocytosis 10.1
39 restrictive cardiomyopathy 10.1
40 wilms tumor predisposition 10.1
41 growth hormone deficiency 10.1
42 hypotonia 10.1
43 acute mountain sickness 10.1 HSPA1B HSPA1A
44 pulmonary disease, chronic obstructive 10.1
45 polyploidy 10.1
46 polykaryocytosis inducer 9.9
47 mulchandani-bhoj-conlin syndrome 9.9
48 peritonitis 9.9
49 hypoglycemia 9.9
50 spinal cord injury 9.9

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



Diseases related to Mulibrey Nanism

Symptoms & Phenotypes for Mulibrey Nanism

Human phenotypes related to Mulibrey Nanism:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
4 reduced tendon reflexes 58 31 hallmark (90%) Very frequent (99-80%) HP:0001315
5 cachexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004326
6 high pitched voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0001620
7 j-shaped sella turcica 58 31 hallmark (90%) Very frequent (99-80%) HP:0002680
8 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
9 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
10 frontal bossing 31 HP:0002007
11 dysarthria 31 HP:0001260
12 depressed nasal bridge 31 HP:0005280
13 hypertelorism 31 HP:0000316
14 strabismus 31 HP:0000486
15 congestive heart failure 31 HP:0001635
16 nevus 31 HP:0003764
17 dental crowding 31 HP:0000678
18 dolichocephaly 31 HP:0000268
19 ventriculomegaly 31 HP:0002119
20 hypodontia 31 HP:0000668
21 weak voice 31 HP:0001621
22 triangular face 31 HP:0000325
23 nephroblastoma 31 HP:0002667
24 astigmatism 31 HP:0000483
25 hypoplastic frontal sinuses 31 HP:0002738
26 pigmentary retinopathy 31 HP:0000580
27 microglossia 31 HP:0000171
28 absent frontal sinuses 31 HP:0002688
29 myocardial fibrosis 31 HP:0001685
30 hypotonia 31 HP:0001252
31 pericardial constriction 31 HP:0005132

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
frontal bossing
triangular face

Muscle Soft Tissue:
muscular hypotonia

Head And Neck Eyes:
strabismus
astigmatism
mild hypertelorism
yellowish dots in fundi
decreased retinal pigmentation with dispersion
more
Head And Neck Teeth:
dental crowding
hypodontia of second bicuspid

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

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

Abdomen Liver:
hepatomegaly

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

Head And Neck Head:
dolichocephaly

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 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Mulibrey Nanism according to GeneCards Suite gene sharing:

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.6 BBOX1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-122 9.6 UBB
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-128 9.6 HSPA1A
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.6 UBB
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-159 9.6 PSMC5
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 9.6 PSMC5
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 9.6 UBB
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.6 PSMC5
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-201 9.6 PSMC5
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.6 BBOX1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 9.6 PSMC5
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.6 PSMC5
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-5 9.6 BBOX1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.6 PSMC5
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.6 PSMC5
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-74 9.6 BBOX1
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.6 BBOX1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-93 9.6 PSMC5 UBB

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:

40
Liver, Eye, Brain, Heart, Bone, Tongue, Kidney

Publications for Mulibrey Nanism

Articles related to Mulibrey Nanism:

(show top 50) (show all 74)
# Title Authors PMID Year
1
Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism. 61 54 6 57
17100991 2006
2
A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity. 61 54 57 6
12754710 2003
3
Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism. 61 6 57
10888877 2000
4
Mulibrey nanism: clinical features and diagnostic criteria. 54 57 61
14757854 2004
5
Failure of sexual maturation in Mulibrey nanism. 61 57
15590968 2004
6
High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23. 57 61
10077533 1999
7
Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis. 61 57
9106536 1997
8
Mulibrey nanism: three additional patients and a review of 39 patients. 61 57
7726235 1995
9
Mulibrey nanism. 61 57
7735507 1995
10
Antibody deficiency and isolated growth hormone deficiency in a girl with Mulibrey nanism. 61 57
8335020 1993
11
A case of Mulibrey nanism with associated Wilms' tumor. 61 57
6248277 1980
12
Craniofacial and dental study of mulibrey nanism. 57 61
281281 1978
13
Constrictive pericarditis with dwarfism in two siblings (mulibrey nanism). 61 57
1255313 1976
14
The cardiopathy of mulibrey nanism, a new inherited syndrome. 57 61
4275521 1974
15
So-called mulibrey nanism with pericardial constriction. 57 61
4125809 1973
16
Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction. 61 57
4124529 1973
17
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 6
32576985 2020
18
De novo substitutions of TRPM3 cause intellectual disability and epilepsy. 6
31278393 2019
19
Gynecological tumors in Mulibrey nanism and role for RING finger protein TRIM37 in the pathogenesis of ovarian fibrothecomas. 54 61
19329943 2009
20
A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy. 54 61
17551331 2007
21
Tissue expression of the mulibrey nanism-associated Trim37 protein in embryonic and adult mouse tissues. 61 54
16514549 2006
22
Characterisation of the mulibrey nanism-associated TRIM37 gene: transcription initiation, promoter region and alternative splicing. 61 54
16310976 2006
23
Novel mutations in the TRIM37 gene in Mulibrey Nanism. 54 61
15108285 2004
24
The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder. 61 54
11938494 2002
25
Expression of MUL, a gene encoding a novel RBCC family ring-finger protein, in human and mouse embryogenesis. 54 61
11578880 2001
26
TRIM37 prevents formation of centriolar protein assemblies by regulating Centrobin. 61
33491649 2021
27
TRIM37 is highly expressed during mitosis in CHON-002 chondrocytes cell line and is regulated by miR-223. 61
32353567 2020
28
Mulibrey Nanism Syndrome: A Case for Heart Transplantation. 61
31260650 2020
29
Restriction of lung volumes but normal function of pulmonary tissue in mulibrey nanism. 61
31502399 2020
30
TRIMming down to TRIM37: Relevance to Inflammation, Cardiovascular Disorders, and Cancer in MULIBREY Nanism. 61
30586926 2018
31
Premature ovarian insufficiency and early depletion of the ovarian reserve in the monogenic Mulibrey nanism disorder. 61
29860321 2018
32
Successful Total Pericardiectomy for Constrictive Pericarditis in the First Series of Japanese Patients With Mulibrey Nanism. 61
29731032 2018
33
TRIM37 deficiency induces autophagy through deregulating the MTORC1-TFEB axis. 61
29940807 2018
34
New intragenic rearrangements in non-Finnish mulibrey nanism. 61
28815877 2017
35
TRIM37, a novel E3 ligase for PEX5-mediated peroxisomal matrix protein import. 61
28724525 2017
36
Renal findings in patients with Mulibrey nanism. 61
28432469 2017
37
Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management. 61
28529015 2017
38
Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome. 61
28496510 2016
39
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing. 61
27256967 2016
40
Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism. 61
27044324 2016
41
A stone was lifted from her heart: pericardial constriction in 28-year-old patient with Mulibrey nanism. 61
27150563 2016
42
Report of two Syrian siblings with Mulibrey nanism. 61
26664725 2015
43
Thoracoscopic pericardiectomy for constrictive pericarditis in a pediatric patient with mulibrey nanism. 61
24327644 2013
44
Refractory congestive heart failure following delayed pericardectomy in a 12-year-old child with Mulibrey nanism due to a novel mutation in TRIM37. 61
23385855 2013
45
Testicular failure and male infertility in the monogenic Mulibrey nanism disorder. 61
21865362 2011
46
Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum? 61
21548126 2011
47
Mulibrey nanism in a 35 year-old Iranian female with constrictive pericarditis. 61
25191351 2011
48
Mass ascites in Mulibrey nanism. 61
21175083 2010
49
Where genetics and pathology meet: mulibrey nanism. 61
19347900 2009
50
Serum levels of natriuretic peptides in children with various types of loading conditions. 61
18855222 2009

Variations for Mulibrey Nanism

ClinVar genetic disease variations for Mulibrey Nanism:

6 (show top 50) (show all 117)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRIM37 TRIM37, 5-BP DEL, NT493 Deletion Pathogenic 5240 GRCh37:
GRCh38:
2 TRIM37 TRIM37, 1-BP DEL, 2212G Deletion Pathogenic 5241 GRCh37:
GRCh38:
3 TRIM37 TRIM37, 5-BP DEL, NT838 Deletion Pathogenic 5242 GRCh37:
GRCh38:
4 TRIM37 TRIM37, 1-BP INS, 1346A Insertion Pathogenic 5243 GRCh37:
GRCh38:
5 TRIM37 TRIM37, 8-BP DEL, NT855 Deletion Pathogenic 5244 GRCh37:
GRCh38:
6 TRIM37 NM_015294.6(TRIM37):c.326G>C (p.Cys109Ser) SNV Pathogenic 5245 rs121908391 GRCh37: 17:57161406-57161406
GRCh38: 17:59084045-59084045
7 TRIM37 NM_015294.6(TRIM37):c.2212del (p.Glu738fs) Deletion Pathogenic 56568 rs386833416 GRCh37: 17:57105821-57105821
GRCh38: 17:59028460-59028460
8 TRIM37 NM_015294.6(TRIM37):c.181C>T (p.Arg61Ter) SNV Pathogenic 623386 rs373520509 GRCh37: 17:57165752-57165752
GRCh38: 17:59088391-59088391
9 TRIM37 GRCh37/hg19 17q22(chr17:57119174-57128690) copy number loss Pathogenic 915965 GRCh37: 17:57119174-57128690
GRCh38:
10 TRIM37 NM_015294.6(TRIM37):c.1691del (p.Tyr564fs) Deletion Pathogenic 998316 GRCh37: 17:57119236-57119236
GRCh38: 17:59041875-59041875
11 TRPM3 NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) SNV Pathogenic 585073 rs1564493599 GRCh37: 9:73213379-73213379
GRCh38: 9:70598463-70598463
12 TRIM37 NM_015294.6(TRIM37):c.860G>A (p.Ser287Asn) SNV Pathogenic/Likely pathogenic 5246 rs386834008 GRCh37: 17:57141716-57141716
GRCh38: 17:59064355-59064355
13 TRIM37 NM_015294.6(TRIM37):c.1411C>T (p.Arg471Ter) SNV Likely pathogenic 56565 rs386834001 GRCh37: 17:57126658-57126658
GRCh38: 17:59049297-59049297
14 TRIM37 NM_015294.6(TRIM37):c.1037_1040dup (p.Met347fs) Duplication Likely pathogenic 56563 rs386833999 GRCh37: 17:57134394-57134395
GRCh38: 17:59057033-59057034
15 TRIM37 NM_015294.6(TRIM37):c.1346dup (p.Ser450fs) Duplication Likely pathogenic 56564 rs386834000 GRCh37: 17:57126722-57126723
GRCh38: 17:59049361-59049362
16 TRIM37 NM_015294.6(TRIM37):c.1153_1154insGACTTACTCGC (p.Ala385fs) Insertion Likely pathogenic 666333 rs1599230814 GRCh37: 17:57134281-57134282
GRCh38: 17:59056920-59056921
17 overlap with 5 genes NC_000017.10:g.57075470_57235248del159779 Deletion Likely pathogenic 599190 GRCh37: 17:57075470-57235248
GRCh38: 17:58998109-59157887
18 PPM1E , TRIM37 NM_014906.5(PPM1E):c.*1892T>A SNV Likely pathogenic 931109 GRCh37: 17:57060284-57060284
GRCh38: 17:58982923-58982923
19 TRIM37 NM_015294.6(TRIM37):c.227T>C (p.Leu76Pro) SNV Likely pathogenic 56569 rs386834004 GRCh37: 17:57165706-57165706
GRCh38: 17:59088345-59088345
20 TRIM37 NM_015294.6(TRIM37):c.1894_1895del (p.Glu632fs) Deletion Likely pathogenic 56566 rs386834002 GRCh37: 17:57109310-57109311
GRCh38: 17:59031949-59031950
21 TRIM37 NM_015294.6(TRIM37):c.2056C>T (p.Arg686Ter) SNV Likely pathogenic 56567 rs386834003 GRCh37: 17:57105977-57105977
GRCh38: 17:59028616-59028616
22 TRIM37 NM_015294.6(TRIM37):c.838_842del (p.Thr280fs) Deletion Likely pathogenic 56572 rs386834007 GRCh37: 17:57141734-57141738
GRCh38: 17:59064373-59064377
23 TRIM37 NM_015294.6(TRIM37):c.965G>T (p.Gly322Val) SNV Likely pathogenic 56574 rs386834009 GRCh37: 17:57138447-57138447
GRCh38: 17:59061086-59061086
24 TRIM37 NM_015294.6(TRIM37):c.810-1G>A SNV Likely pathogenic 56571 rs386834006 GRCh37: 17:57141767-57141767
GRCh38: 17:59064406-59064406
25 TRIM37 NM_015294.6(TRIM37):c.943-7_943-5del Microsatellite Uncertain significance 324203 rs886053177 GRCh37: 17:57138474-57138476
GRCh38: 17:59061113-59061115
26 TRIM37 NM_015294.6(TRIM37):c.810-13dup Duplication Uncertain significance 324206 rs367700401 GRCh37: 17:57141768-57141769
GRCh38: 17:59064407-59064408
27 TRIM37 NM_015294.6(TRIM37):c.810-3del Deletion Uncertain significance 324207 rs367700401 GRCh37: 17:57141769-57141769
GRCh38: 17:59064408-59064408
28 TRIM37 NM_015294.6(TRIM37):c.*977del Deletion Uncertain significance 324177 rs112918162 GRCh37: 17:57075761-57075761
GRCh38: 17:58998400-58998400
29 TRIM37 NM_015294.6(TRIM37):c.-139G>A SNV Uncertain significance 324210 rs886053178 GRCh37: 17:57183961-57183961
GRCh38: 17:59106600-59106600
30 TRIM37 NM_015294.6(TRIM37):c.586C>T (p.Gln196Ter) SNV Uncertain significance 561179 rs1568191596 GRCh37: 17:57157145-57157145
GRCh38: 17:59079784-59079784
31 TRIM37 NM_015294.6(TRIM37):c.2036A>C (p.Lys679Thr) SNV Uncertain significance 587524 rs1568017495 GRCh37: 17:57105997-57105997
GRCh38: 17:59028636-59028636
32 TRIM37 NM_015294.6(TRIM37):c.745C>T (p.Gln249Ter) SNV Uncertain significance 56570 rs386834005 GRCh37: 17:57148248-57148248
GRCh38: 17:59070887-59070887
33 TRIM37 NM_015294.6(TRIM37):c.1870del (p.Asp624fs) Deletion Uncertain significance 631780 rs1568027916 GRCh37: 17:57109335-57109335
GRCh38: 17:59031974-59031974
34 TRIM37 NM_015294.6(TRIM37):c.2316A>G (p.Leu772=) SNV Uncertain significance 324196 rs765983264 GRCh37: 17:57094727-57094727
GRCh38: 17:59017366-59017366
35 TRIM37 NM_015294.6(TRIM37):c.-228C>G SNV Uncertain significance 324213 rs886053179 GRCh37: 17:57184050-57184050
GRCh38: 17:59106689-59106689
36 TRIM37 NM_015294.6(TRIM37):c.-296G>T SNV Uncertain significance 324216 rs886053181 GRCh37: 17:57184118-57184118
GRCh38: 17:59106757-59106757
37 TRIM37 NM_015294.6(TRIM37):c.*622T>C SNV Uncertain significance 324183 rs886053172 GRCh37: 17:57076116-57076116
GRCh38: 17:58998755-58998755
38 TRIM37 NM_015294.6(TRIM37):c.*344G>A SNV Uncertain significance 324186 rs886053174 GRCh37: 17:57076394-57076394
GRCh38: 17:58999033-58999033
39 TRIM37 NM_015294.6(TRIM37):c.*381T>C SNV Uncertain significance 324184 rs886053173 GRCh37: 17:57076357-57076357
GRCh38: 17:58998996-58998996
40 TRIM37 NM_015294.6(TRIM37):c.2776G>T (p.Asp926Tyr) SNV Uncertain significance 324189 rs375437566 GRCh37: 17:57078995-57078995
GRCh38: 17:59001634-59001634
41 TRIM37 NM_015294.6(TRIM37):c.-419G>T SNV Uncertain significance 324222 rs549763737 GRCh37: 17:57184241-57184241
GRCh38: 17:59106880-59106880
42 TRIM37 NM_015294.6(TRIM37):c.398C>G (p.Ala133Gly) SNV Uncertain significance 324208 rs61758100 GRCh37: 17:57158552-57158552
GRCh38: 17:59081191-59081191
43 TRIM37 NM_015294.6(TRIM37):c.-230C>T SNV Uncertain significance 324214 rs886053180 GRCh37: 17:57184052-57184052
GRCh38: 17:59106691-59106691
44 TRIM37 NM_015294.6(TRIM37):c.-203C>A SNV Uncertain significance 324211 rs182346107 GRCh37: 17:57184025-57184025
GRCh38: 17:59106664-59106664
45 TRIM37 NM_015294.6(TRIM37):c.*1084C>T SNV Uncertain significance 324175 rs12451581 GRCh37: 17:57075654-57075654
GRCh38: 17:58998293-58998293
46 TRIM37 NM_015294.6(TRIM37):c.2487G>T (p.Gln829His) SNV Uncertain significance 324194 rs886053176 GRCh37: 17:57093060-57093060
GRCh38: 17:59015699-59015699
47 TRIM37 NM_015294.6(TRIM37):c.-334C>G SNV Uncertain significance 324217 rs886053182 GRCh37: 17:57184156-57184156
GRCh38: 17:59106795-59106795
48 TRIM37 NM_015294.6(TRIM37):c.1200-11A>G SNV Uncertain significance 324201 rs781195873 GRCh37: 17:57128700-57128700
GRCh38: 17:59051339-59051339
49 TRIM37 NM_015294.6(TRIM37):c.*961A>G SNV Uncertain significance 324178 rs3826354 GRCh37: 17:57075777-57075777
GRCh38: 17:58998416-58998416
50 TRIM37 NM_015294.6(TRIM37):c.-365G>A SNV Uncertain significance 324220 rs781390565 GRCh37: 17:57184187-57184187
GRCh38: 17:59106826-59106826

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

72
# 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

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
Show member pathways
12.79 UBB RBX1 PSMC5 HSPA1B HSPA1A H2AC18
2 11.6 UBB TRIM37 RBX1 MID1
3
Show member pathways
11.58 UBB HSPA1B HSPA1A
4 11.41 PEX7 PEX5 PEX1
5 10.99 UBB RBX1 HSPA1B HSPA1A
6 10.47 UBB RBX1 HSPA1B HSPA1A
7 10.21 UBB RBX1

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 10.25 UBB TRIM37 RBX1 RAD51C PSMC5 PPM1E
2 cytosol GO:0005829 10.13 UBB TRIM37 RBX1 RAD51C PSMC5 PEX7
3 mitochondrion GO:0005739 9.86 UBB RAD51C PPM1E PEX5 MUL1 HSPA1B
4 peroxisomal membrane GO:0005778 9.54 PEX7 PEX5 PEX1
5 aggresome GO:0016235 9.33 TRIM37 HSPA1B HSPA1A
6 inclusion body GO:0016234 9.13 PSMC5 HSPA1B HSPA1A
7 peroxisome GO:0005777 9.02 TRIM37 PEX7 PEX5 PEX1 MUL1

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 protein ubiquitination GO:0016567 9.96 UBB TRIM37 RBX1 PEX5 MUL1
2 protein polyubiquitination GO:0000209 9.84 UBB RBX1 PSMC5 MUL1
3 regulation of mRNA stability GO:0043488 9.74 UBB PSMC5 HSPA1A
4 interleukin-1-mediated signaling pathway GO:0070498 9.72 UBB RBX1 PSMC5
5 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.7 UBB MTMR4 HSPA1A
6 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 9.63 RBX1 HSPA1B HSPA1A
7 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.61 UBB RBX1 PSMC5
8 regulation of protein ubiquitination GO:0031396 9.58 HSPA1B HSPA1A
9 positive regulation of tumor necrosis factor-mediated signaling pathway GO:1903265 9.51 HSPA1B HSPA1A
10 negative regulation of inclusion body assembly GO:0090084 9.49 HSPA1B HSPA1A
11 regulation of cell death GO:0010941 9.48 HSPA1B HSPA1A
12 protein targeting to peroxisome GO:0006625 9.46 UBB PEX7 PEX5 PEX1
13 peroxisome organization GO:0007031 9.43 PEX7 PEX5 PEX1
14 positive regulation of microtubule nucleation GO:0090063 9.4 HSPA1B HSPA1A
15 cellular heat acclimation GO:0070370 9.37 HSPA1B HSPA1A
16 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.35 UBB TRIM37 INS HSPA1B HSPA1A
17 positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway GO:0070434 9.32 HSPA1B HSPA1A
18 protein import into peroxisome matrix GO:0016558 8.8 PEX7 PEX5 PEX1

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

# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.56 PSMC5 PEX1 HSPA1B HSPA1A
2 enzyme binding GO:0019899 9.55 PEX7 PEX5 MID1 HSPA1B HSPA1A
3 protein N-terminus binding GO:0047485 9.5 PEX5 HSPA1B HSPA1A
4 ubiquitin protein ligase binding GO:0031625 9.17 UBB TRIM37 RBX1 MUL1 MID1 HSPA1B
5 C3HC4-type RING finger domain binding GO:0055131 8.96 HSPA1B HSPA1A

Sources for Mulibrey Nanism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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