Ring chromosome 1 syndrome

Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.



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Narrow down the case reports



Total: 9 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(63.5%)		 631857
 Terminal deletion of (1)(q42) and its phenotypical manifestations.
Andrle M, Erlach A, Mayr WR, Rett A.
Hum Genet. 1978;41(1):115-20.
Epicanthus Micrognathia
RING1
Child, Preschool Chromosome Deletion Chromosomes, Human, 1-3 Dwarfism Homo sapiens Intellectual Disability Male Microcephaly Phenotype
2
(39.0%)		 12910498
 Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literature.
Tonnies H, Neumann LM, Gruneberg B, Neitzel H.
Am J Med Genet A. 2003;121A(2):163-7.
Microcephaly
Child, Preschool Chromosomes, Human, Pair 1 Cytogenetic Analysis Fluorescent in Situ Hybridization Genetic Markers Homo sapiens Male Microcephaly Mosaicism Review Literature as Topic Ring Chromosomes
3
(34.4%)		 26437553
 [Anesthesia Management for Primary Cleft Lip Closure in an Infant with Congenital Total Length Complete Tracheal Rings].
Yoshinaga J, Miyazawa N, Hanzawa A, Miwa S, Oyama N, Yamamoto S.
Masui. 2015;64(6):628-31.
Tracheal stenosis Bilateral cleft lip
General Anesthesia Homo sapiens Infant Male Stenosis Trachea X-Ray Computed Tomography
4
(27.8%)		 16955177
 [Orthodontic treatment for the impacted upper central incisors: report of 28 cases].
Wang S, Shu CB, Fan LF.
Shanghai Kou Qiang Yi Xue. 2006;15(4):437-40.
Impacted tooth
Child Homo sapiens Incisor Maxilla Orthodontics, Corrective
5
(23.3%)		 11746048
 FISH characterization of a supernumerary r(1)(::cen-->q22::q22-->sq21::) chromosome associated with multiple anomalies and bilateral cataracts.
Finelli P, Cavalli P, Giardino D, Gottardi G, Natacci F, Savasta S, Larizza L.
Am J Med Genet. 2001;104(2):157-64.
Cataract Kyphoscoliosis
GJA8
Cataract Chromosomes, Human, Pair 1 Females Fluorescent in Situ Hybridization Homo sapiens Intellectual Disability Magnetic Resonance Imaging Models, Genetic Mutation Phenotype Ring Chromosomes Speech
6
(4.0%)		 21447990
 Macular Dysfunction in Oguchi Disease with the Frequent Mutation 1147delA in the SAG Gene.
Hayashi T, Tsuzuranuki S, Kozaki K, Urashima M, Tsuneoka H.
Ophthalmic Res. 2011;46(4):175-80.
Blindness
RING1 RNF2 SAG
c|DEL|1147|A
Adult Arrestin DNA Mutational Analysis Electroretinography Eye Diseases, Hereditary Homo sapiens Male Nyctalopia Polymerase Chain Reaction Retina Retinal Diseases Sequence Deletion Tomography, Optical Coherence Vision Disorders Visual Fields
6
(4.0%)		 16914909
 Clonal karyotype evolution involving ring chromosome 1 with myelodysplastic syndrome subtype RAEB-t progressing into acute leukemia.
Duell T, Poleck-Dehlin B, Schmid C, Wunderlich B, Ledderose G, Mittermuller J, Kolb HJ, Schmetzer H.
Acta Haematol. 2006;116(2):131-6.
Pancytopenia
CSF2
Acute Disease Chromosome Banding Chromosomes, Human, Pair 1 Differential Diagnosis Disease Progression Homo sapiens Immunophenotyping Male Middle Aged Ring Chromosomes
6
(4.0%)		 15672935
 Late onset esotropia as first symptom of a cerebellar tumor.
Musazadeh M, Hartmann K, Simon F.
Strabismus. 2004;12(2):119-23.
Esotropia
Astrocytoma Cerebellar Neoplasms Child, Preschool Esotropia Headache Homo sapiens Magnetic Resonance Imaging Male Neurosurgical Procedures
6
(4.0%)		 10421123
 Fixed left ventricular outflow tract obstruction in presumed hypertrophic obstructive cardiomyopathy: implications for therapy.
Bruce CJ, Nishimura RA, Tajik AJ, Schaff HV, Danielson GK.
Ann Thorac Surg. 1999;68(1):100-4.
Cardiomyopathy
Adult Echocardiography Females Homo sapiens Hypertrophic Cardiomyopathy Middle Aged Ventricular Outflow Obstruction
        

Phenotype(s) retrieved from Orphanet

    Total: 13

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000311 Round face Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000463 Anteverted nares Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0000506 Telecanthus Very frequent (99-80%)
HP:0000508 Ptosis Very frequent (99-80%)
HP:0002714 Downturned corners of mouth Very frequent (99-80%)
HP:0004209 Clinodactyly of the 5th finger Very frequent (99-80%)
HP:0008872 Feeding difficulties in infancy Very frequent (99-80%)
HP:0010720 Abnormal hair pattern Very frequent (99-80%)
HP:0100543 Cognitive impairment Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0002488 Acute leukemia 1
HP:0002751 Kyphoscoliosis 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID