PedAM

Pediatric Disease Annotations & Medicines


	miller syndrome

Disease ID	1608
Disease	miller syndrome
Definition	Miller syndrome, also known as postaxial acrofacial dysostosis, is a rare genetic disorder characterized by craniofacial malformations occurring along with abnormalities of the arms, hands and/or feet. Craniofacial abnormalities include underdevelopment of the cheekbones (malar hypoplasia), an abnormally small lower jaw (micrognathia), incomplete closure of the roof of the mouth (cleft palate), small, protruding, “cup-shaped” ears; and/or absence of tissue (colobomas) from the lower eyelids. Limb abnormalities may include incomplete development, webbing (syndactyly), and/or closure or absence of certain fingers and/or toes; and/or improper development and/or abnormal fusion of bones in the forearms (radioulnar synostosis), causing the forearms to appear unusually short. Additional physical abnormalities can occur in some cases. Intelligence is not affected. Miller syndrome is inherited as an autosomal recessive trait caused by mutations in theDHODHgene.Miller syndrome was first described in the medical field between 1969 and 1979 through several independent reports. The disorder is refereed by several names derived from some of the physicians who first reported the disorder including M. Miller, H.R. Wiedemann, and E. Genee. Some researchers believe that Miller syndrome represents a distinct entity under the broader term of “postaxial acrofacial dysostosis,” which would include other disorders with similar and overlapping craniofacial and limb abnormalities, but ultimately distinct symptoms. - NORD Reference: NORD
Synonym	genee-wiedemann acrofacial dysostosis genee-wiedemann syndrome miller syndrome (disorder) miller syndromes miller's syndrome millers syndrome poads poads syndrome postaxial acrofacial dysostosis postaxial acrofacial dysostosis (poads) postaxial acrofacial dysostosis (poads) syndrome postaxial acrofacial dysostosis syndrome wildervanck-smith syndrome
Orphanet	ORPHANET:246
OMIM	OMIM:263750
UMLS	C0265257
SNOMED-CT	SNOMEDCT_US_2016_09_01:66038001
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) DHODH \| 1723 \| CLINVAR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1608
Disease	miller syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	1608
Disease	miller syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
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All Snps(Total Genotypes:11)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs201230446	19915526	1723	DHODH	umls:C0265257	UNIPROT	Sanger sequencing confirmed the presence of DHODH mutations in three additional families with Miller syndrome.	0.361357209	2010	DHODH	16	72014641	C	T
rs201230446	22967083	1723	DHODH	umls:C0265257	BeFree	In conclusion, the G202A and R346W mutation causes deficient protein stability, and the R135C mutation does not affect stability but impairs the substrate-induced enzymatic activity, suggesting that impairment of DHODH activity is linked to the Miller syndrome phenotype.	0.361357209	2012	DHODH	16	72014641	C	T
rs201230446	NA	1723	DHODH	umls:C0265257	CLINVAR	NA	0.361357209	NA	DHODH	16	72014641	C	T
rs201947120	NA	1723	DHODH	umls:C0265257	CLINVAR	NA	0.361357209	NA	DHODH	16	72023536	C	T
rs201947120	22967083	1723	DHODH	umls:C0265257	BeFree	In conclusion, the G202A and R346W mutation causes deficient protein stability, and the R135C mutation does not affect stability but impairs the substrate-induced enzymatic activity, suggesting that impairment of DHODH activity is linked to the Miller syndrome phenotype.	0.361357209	2012	DHODH	16	72023536	C	T
rs267606765	NA	1723	DHODH	umls:C0265257	CLINVAR	NA	0.361357209	NA	DHODH	16	72012084	G	A,C
rs267606766	NA	1723	DHODH	umls:C0265257	CLINVAR	NA	0.361357209	NA	DHODH	16	72017043	G	A
rs267606767	NA	1723	DHODH	umls:C0265257	CLINVAR	NA	0.361357209	NA	DHODH	16	72021211	G	A,C
rs267606767	22967083	1723	DHODH	umls:C0265257	BeFree	In conclusion, the G202A and R346W mutation causes deficient protein stability, and the R135C mutation does not affect stability but impairs the substrate-induced enzymatic activity, suggesting that impairment of DHODH activity is linked to the Miller syndrome phenotype.	0.361357209	2012	DHODH	16	72021211	G	A,C
rs267606768	NA	1723	DHODH	umls:C0265257	CLINVAR	NA	0.361357209	NA	DHODH	16	72022386	C	T
rs267606769	NA	1723	DHODH	umls:C0265257	CLINVAR	NA	0.361357209	NA	DHODH	16	72021201	C	T

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

GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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