Maternal uniparental disomy of chromosome 1

Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.



Input patient's signs and symptoms


Narrow down the case reports



Total: 1 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(17.5%)		 23684670
 A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease.
Shimojima K, Tanaka R, Shimada S, Sangu N, Nakayama J, Iwasaki N, Yamamoto T.
J Neurol Sci. 2013;330(1-2):123-6.
Nystagmus Progressive spasticity
GJC2
c|SUB|C|746|G p|SUB|P|249|R
Chromosome Banding Connexins DNA Epilepsy Females Gene Dosage Haplotypes Homo sapiens In Situ Hybridization Microarray Analysis Muscle Spasticity Mutation Myelin Sheath Pelizaeus-Merzbacher Disease Single Nucleotide Polymorphism Uniparental Disomy Young Adult
        

Phenotype(s) retrieved from Orphanet

    Total: 29

HPO ID Term Frequency
HP:0000319 Smooth philtrum Frequent (79-30%)
HP:0000365 Hearing impairment Frequent (79-30%)
HP:0000518 Cataract Frequent (79-30%)
HP:0000639 Nystagmus Frequent (79-30%)
HP:0000717 Autism Frequent (79-30%)
HP:0000954 Single transverse palmar crease Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0001251 Ataxia Frequent (79-30%)
HP:0001319 Neonatal hypotonia Frequent (79-30%)
HP:0001476 Delayed closure of the anterior fontanelle Frequent (79-30%)
HP:0001508 Failure to thrive Frequent (79-30%)
HP:0001510 Growth delay Frequent (79-30%)
HP:0001876 Pancytopenia Frequent (79-30%)
HP:0001883 Talipes Frequent (79-30%)
HP:0002020 Gastroesophageal reflux Frequent (79-30%)
HP:0002119 Ventriculomegaly Frequent (79-30%)
HP:0002191 Progressive spasticity Frequent (79-30%)
HP:0002240 Hepatomegaly Frequent (79-30%)
HP:0002714 Downturned corners of mouth Frequent (79-30%)
HP:0002719 Recurrent infections Frequent (79-30%)
HP:0002813 Abnormality of limb bone morphology Frequent (79-30%)
HP:0003139 Panhypogammaglobulinemia Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0007272 Progressive psychomotor deterioration Frequent (79-30%)
HP:0008066 Abnormal blistering of the skin Frequent (79-30%)
HP:0009909 Uplifted earlobe Frequent (79-30%)
HP:0010655 Epiphyseal stippling Frequent (79-30%)
HP:0011968 Feeding difficulties Frequent (79-30%)
HP:0100651 Type I diabetes mellitus Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID