Page last updated: 2024-09-27

Mulibrey Nanism

Growth failure from birth that is due to mutations in a gene (TRIM37) on chromosome 17q22-q23 which encodes a RING-B-box-coiled-coil protein.

Synonyms(5)

Synonym
Nanism, Mulibrey
Muscle-Liver-Brain-Eye Nanism
Mulibrey Nanism
Mulibrey Nanism Syndrome
Perheentupa Syndrome

Research Excerpts

Overview

ExcerptReference
"Mulibrey nanism is a rare autosomal recessive disorder with prenatal onset growth retardation (nanism) and dysmorphic features, including a wide range of abnormalities, such as cardiac disease (pericardial constriction, myocardial hypertrophy and fibrosis) and anomalies of muscle, liver, brain and eye, resulting in the acronym 'mulibrey'."( Hes, FJ; Morreau, H, 2009)

Research

Studies (4)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's2 (50.00)18.1394
2010's2 (50.00)28.8240
2020's0 (0.00)9.53
DrugIndicatedRelationship StrengthStudiesTrials
milrinone0low10
atrial natriuretic factor0low10
natriuretic peptide, brain0low10
eye0low10

Protein Targets (73)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Atrial natriuretic peptide receptor 10112
Atrial natriuretic peptide receptor 1 0011
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE1001
Chain A, Beta-lactamase1001
Chain A, 2-oxoglutarate Oxygenase1001
acetylcholinesterase1001
glp-1 receptor, partial1001
thioredoxin reductase1001
RAR-related orphan receptor gamma1001
SMAD family member 21001
SMAD family member 31001
TDP1 protein1001
GLI family zinc finger 31001
AR protein1001
thyroid stimulating hormone receptor1001
progesterone receptor1001
regulator of G-protein signaling 41001
cytochrome P450 family 3 subfamily A polypeptide 41001
glucocorticoid receptor [Homo sapiens]1001
retinoic acid nuclear receptor alpha variant 11001
retinoid X nuclear receptor alpha1001
estrogen-related nuclear receptor alpha1001
pregnane X nuclear receptor1001
estrogen nuclear receptor alpha1001
G1001
cytochrome P450 2D61001
peroxisome proliferator-activated receptor delta1001
peroxisome proliferator activated receptor gamma1001
vitamin D (1,25- dihydroxyvitamin D3) receptor1001
arylsulfatase A1001
Phosphodiesterase 0101
aryl hydrocarbon receptor1001
thyroid stimulating hormone receptor1001
activating transcription factor 61001
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a1001
Bloom syndrome protein isoform 11001
cytochrome P450 2C19 precursor1001
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 11001
thyroid hormone receptor beta isoform 21001
peptidyl-prolyl cis-trans isomerase NIMA-interacting 11001
geminin1001
Vpr1001
peripheral myelin protein 221001
muscarinic acetylcholine receptor M11001
lamin isoform A-delta101001
cGMP-dependent 3',5'-cyclic phosphodiesterase0101
Aurora kinase A0101
High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A0101
cGMP-specific 3',5'-cyclic phosphodiesterase0101
3',5'-cyclic-AMP phosphodiesterase 0101
Interferon beta1001
HLA class I histocompatibility antigen, B alpha chain 1001
Cellular tumor antigen p531001
Prostaglandin G/H synthase 10101
cAMP-specific 3',5'-cyclic phosphodiesterase 4A0101
Dual specificity protein kinase TTK0101
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A0101
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B0101
cAMP-specific 3',5'-cyclic phosphodiesterase 4B0101
cAMP-specific 3',5'-cyclic phosphodiesterase 4C0101
cAMP-specific 3',5'-cyclic phosphodiesterase 4D0101
cGMP-inhibited 3',5'-cyclic phosphodiesterase B0202
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C0101
cGMP-inhibited 3',5'-cyclic phosphodiesterase A0202
cGMP-specific 3',5'-cyclic phosphodiesterase0101
Inositol hexakisphosphate kinase 11001
Aurora kinase B0101
ATPase family AAA domain-containing protein 51001
Ataxin-21001
Inner centromere protein0101
Phosphodiesterase 0101
cytochrome P450 2C9, partial1001
ATP-dependent phosphofructokinase1001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]