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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   mulibrey nanism
  

Disease ID 345
Disease mulibrey nanism
Definition
An autosomal recessive inherited disorder caused by mutations in the TRIM37 gene. It is characterized by marked growth retardation and abnormalities in multiple organs including heart, liver, muscle, eyes, and brain.
Synonym
mulibrey nanism [disease/finding]
mulibrey nanism syndrome
mulibrey nanism syndrome (disorder)
muscle liver brain eye nanism
muscle-liver-brain-eye nanism
nanism syndrome, mulibrey
nanism, mulibrey
nanism, muscle-liver-brain-eye
perheentupa syndrome
pericardial constriction and growth failure
syndrome, mulibrey nanism
syndrome, perheentupa
Orphanet
OMIM
DOID
UMLS
C0524582
MeSH
SNOMED-CT
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
4591  |  TRIM37  |  CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:11)
617  |  BCS1L  |  2.187  |  DISEASES
9820  |  CUL7  |  3.564  |  DISEASES
2246  |  FGF1  |  1.812  |  DISEASES
23363  |  OBSL1  |  3.995  |  DISEASES
5155  |  PDGFB  |  1.543  |  DISEASES
5830  |  PEX5  |  2.301  |  DISEASES
348235  |  SKA2  |  3.952  |  DISEASES
7185  |  TRAF1  |  2.464  |  DISEASES
7187  |  TRAF3  |  2.393  |  DISEASES
7189  |  TRAF6  |  1.977  |  DISEASES
7874  |  USP7  |  2.898  |  DISEASES
Locus
Symbol | Locus(Total Locus:1)
TRIM37  |  17q22
Disease ID 345
Disease mulibrey nanism
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:9)
HP:0004326  |  Cachexia
HP:0000256  |  Macrocephaly
HP:0004322  |  Short stature
HP:0001315  |  Reduced tendon reflexes
HP:0001620  |  High pitched voice
HP:0002680  |  J-shaped sella turcica
HP:0001511  |  Intrauterine growth retardation
HP:0002240  |  Hepatomegaly
HP:0000431  |  Wide nasal bridge
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:1)
HP:0001541  |  Ascites  |  1
Disease ID 345
Disease mulibrey nanism
Manually Symptom
UMLS  | Name(Total Manually Symptoms:1)
C0018799  |  cardiopathy
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:13)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs121908391NA4591TRIM37umls:C0524582CLINVARNA0.494154703NATRIM371759084045CG
rs386833416NA4591TRIM37umls:C0524582CLINVARNA0.494154703NATRIM371759028460C-
rs386833999NA4591TRIM37umls:C0524582CLINVARNA0.494154703NATRIM371759057033-ATCT
rs386834000NA4591TRIM37umls:C0524582CLINVARNA0.494154703NATRIM371759049361-T
rs386834001NA4591TRIM37umls:C0524582CLINVARNA0.494154703NATRIM371759049297GA
rs386834002NA4591TRIM37umls:C0524582CLINVARNA0.494154703NATRIM371759031949TC-
rs386834003NA4591TRIM37umls:C0524582CLINVARNA0.494154703NATRIM371759028616GA
rs386834004NA4591TRIM37umls:C0524582CLINVARNA0.494154703NATRIM371759088345AG
rs386834005NA4591TRIM37umls:C0524582CLINVARNA0.494154703NATRIM371759070887GA
rs386834006NA4591TRIM37umls:C0524582CLINVARNA0.494154703NATRIM371759064406CT
rs386834007NA4591TRIM37umls:C0524582CLINVARNA0.494154703NATRIM371759064373AAAGT-
rs386834008NA4591TRIM37umls:C0524582CLINVARNA0.494154703NATRIM371759064355CT
rs386834009NA4591TRIM37umls:C0524582CLINVARNA0.494154703NATRIM371759061086CA
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:2)
HP ID HP Name MP ID MP Name Annotation
HP:0000431Wide nasal bridgeMP:0006292abnormal nasal placode morphologyany structural anomaly in the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epith
HP:0001511Intrauterine growth retardationMP:0011109lethality throughout fetal growth and development, incomplete penetrancethe appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)
Mapped by homologous gene(Total Items:9)
HP ID HP Name MP ID MP Name Annotation
HP:0001620High pitched voiceMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0002680J-shaped sella turcicaMP:0014185cerebellum atrophyacquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0001511Intrauterine growth retardationMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000256MacrocephalyMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0002240HepatomegalyMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000431Wide nasal bridgeMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0004326CachexiaMP:0013659abnormal erythroid lineage cell morphologyany structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes
HP:0004322Short statureMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001315Reduced tendon reflexesMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
Disease ID 345
Disease mulibrey nanism
Case(Waiting for update.)