PedAM

Pediatric Disease Annotations & Medicines


	mulibrey nanism

Disease ID	255
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	ORPHANET:2576
OMIM	OMIM:253250
DOID	DOID:0050436
UMLS	C0524582
MeSH	D050336
SNOMED-CT	SNOMEDCT_US_2016_09_01:81604003
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) TRIM37 \| 4591 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:24) 2273 \| FHL1 \| DISEASES 7132 \| TNFRSF1A \| DISEASES 8405 \| SPOP \| DISEASES 5189 \| PEX1 \| DISEASES 7188 \| TRAF5 \| DISEASES 4591 \| TRIM37 \| DISEASES 9618 \| TRAF4 \| DISEASES 8424 \| BBOX1 \| DISEASES 3480 \| IGF1R \| DISEASES 51127 \| TRIM17 \| DISEASES 50852 \| TRAT1 \| DISEASES 5191 \| PEX7 \| DISEASES 64388 \| GREM2 \| DISEASES 5155 \| PDGFB \| DISEASES 348235 \| SKA2 \| DISEASES 7189 \| TRAF6 \| DISEASES 2246 \| FGF1 \| DISEASES 7874 \| USP7 \| DISEASES 617 \| BCS1L \| DISEASES 7185 \| TRAF1 \| DISEASES 7187 \| TRAF3 \| DISEASES 23363 \| OBSL1 \| DISEASES 5830 \| PEX5 \| DISEASES 9820 \| CUL7 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) TRIM37 \| 17q22

Disease ID	255
Disease	mulibrey nanism
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:9) HP:0002240 \| Hepatomegaly HP:0001511 \| Intrauterine growth retardation HP:0004322 \| Short stature HP:0004326 \| Cachexia HP:0002680 \| J-shaped sella turcica HP:0000256 \| Macrocephaly HP:0001620 \| High pitched voice HP:0001315 \| Reduced tendon reflexes HP:0000431 \| Wide nasal bridge
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0001541 \| Ascites \| 1

Disease ID	255
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.)

All Snps(Total Genotypes:13)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121908391	NA	4591	TRIM37	umls:C0524582	CLINVAR	NA	0.494154703	NA	TRIM37	17	59084045	C	G
rs386833416	NA	4591	TRIM37	umls:C0524582	CLINVAR	NA	0.494154703	NA	TRIM37	17	59028460	C	-
rs386833999	NA	4591	TRIM37	umls:C0524582	CLINVAR	NA	0.494154703	NA	TRIM37	17	59057033	-	ATCT
rs386834000	NA	4591	TRIM37	umls:C0524582	CLINVAR	NA	0.494154703	NA	TRIM37	17	59049361	-	T
rs386834001	NA	4591	TRIM37	umls:C0524582	CLINVAR	NA	0.494154703	NA	TRIM37	17	59049297	G	A
rs386834002	NA	4591	TRIM37	umls:C0524582	CLINVAR	NA	0.494154703	NA	TRIM37	17	59031949	TC	-
rs386834003	NA	4591	TRIM37	umls:C0524582	CLINVAR	NA	0.494154703	NA	TRIM37	17	59028616	G	A
rs386834004	NA	4591	TRIM37	umls:C0524582	CLINVAR	NA	0.494154703	NA	TRIM37	17	59088345	A	G
rs386834005	NA	4591	TRIM37	umls:C0524582	CLINVAR	NA	0.494154703	NA	TRIM37	17	59070887	G	A
rs386834006	NA	4591	TRIM37	umls:C0524582	CLINVAR	NA	0.494154703	NA	TRIM37	17	59064406	C	T
rs386834007	NA	4591	TRIM37	umls:C0524582	CLINVAR	NA	0.494154703	NA	TRIM37	17	59064373	AAAGT	-
rs386834008	NA	4591	TRIM37	umls:C0524582	CLINVAR	NA	0.494154703	NA	TRIM37	17	59064355	C	T
rs386834009	NA	4591	TRIM37	umls:C0524582	CLINVAR	NA	0.494154703	NA	TRIM37	17	59061086	C	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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