Microphthalmia, Lenz type

Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms).



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Narrow down the case reports



Total: 19 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
11
(23.3%)		 21841432
 Orthopaedic manifestations in a case of Lenz microphthalmia syndrome.
Derman PB, Kulkarni SS, Dormans JP.
J Pediatr Orthop. 2011;31(6):e64-9.
Microphthalmia Kyphosis
Anophthalmos Bone Diseases, Developmental Follow-Up Studies Homo sapiens Male Microphthalmos Osteochondrosis Spinal Stenosis
12
(4.0%)		 26196063
 Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome.
Zhu X, Dai FR, Wang J, Zhang Y, Tan ZP, Zhang Y.
Gene. 2015;571(1):142-4.
Intellectual disability
c|SUB|G|1619|A p|SUB|R|540|Q rs148195891 rs1555913206 rs1555919769 rs909942650
Amino Acid Sequence Anophthalmos Cataract DNA Mutational Analysis Fatal Outcome Genetic Diseases, X-Linked Heart Septal Defects Homo sapiens Infant Male Microphthalmos Missense Mutation Molecular Sequence Data Proto-Oncogene Proteins Repressor Proteins Sequence Homology, Amino Acid
12
(4.0%)		 24431331
(4278941)
 A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.
Esmailpour T, Riazifar H, Liu L, Donkervoort S, Huang VH, Madaan S, Shoucri BM, Busch A, Wu J, Towbin A, Chadwick RB, Sequeira A, Vawter MP, Sun G, Johnston JJ, Biesecker LG, Kawaguchi R, Sun H, Kimonis V, Huang T.
J Med Genet. 2014;51(3):185-96.
Anophthalmia
BCOR BMP4 NAA10 STRA6
c|SUB|T|471+2|A;RS#:587776457 rs1057518605 rs587776457 rs797044868
Anophthalmos Cell Proliferation Cultured Cells Females Fibroblasts Homo sapiens Male Microphthalmos Mutation N-Terminal Acetyltransferase A N-Terminal Acetyltransferase E Phenotype RNA Splice Sites Signal Transduction
12
(4.0%)		 20003547
(2806267)
 Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes.
Bardakjian TM, Schneider AS, Ng D, Johnston JJ, Biesecker LG.
BMC Med Genet. 2009;10:137.
Chordee
SALL1
Anus, Imperforate Chromosomes, Human, Pair 16 DNA Copy Number Variations External Ear Gene Deletion Genetic Association Studies Genetic Predisposition to Disease Homo sapiens Infant, Newborn Male Microphthalmos Oligonucleotide Array Sequence Analysis Phenotype Syndrome
12
(4.0%)		 15770227
 Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.
Horn D, Chyrek M, Kleier S, Luttgen S, Bolz H, Hinkel GK, Korenke GC, Riess A, Schell-Apacik C, Tinschert S, Wieczorek D, Gillessen-Kaesbach G, Kutsche K.
Eur J Hum Genet. 2005;13(5):563-9.
Cataract
BCOR
c|DEL|2488_2489|AG c|DEL|3286|G p|SUB|P|85|L;RS#:121434618
Child, Preschool Chromosomes, Human, X Congenital Heart Defects DNA Mutational Analysis Eye Abnormalities Females Fluorescent in Situ Hybridization Gene Deletion Homo sapiens Infant Male Microphthalmos Missense Mutation Proto-Oncogene Proteins Repressor Proteins Single Nucleotide Polymorphism
12
(4.0%)		 12116202
 Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?
Ng D, Hadley DW, Tifft CJ, Biesecker LG.
Am J Med Genet. 2002;110(4):308-14.
Anophthalmia
ANOP1
rs148195891 rs1555913206 rs1555919769 rs909942650
Anophthalmos Craniofacial Abnormalities Females Gene Frequency Genes, Recessive Genetic Heterogeneity Genetic Predisposition to Disease Genotype Homo sapiens Infant Lod Score Male Microphthalmos Short Tandem Repeat Syndrome X Chromosome
12
(4.0%)		 10893665
 Lenz microphthalmia syndrome: three additional cases with rare associated anomalies.
Temtamy SA, Ismail SI, Meguid NA.
Genet Couns. 2000;11(2):147-52.
Ambiguous genitalia
Child Disorders of Sex Development Genetic Counseling Homo sapiens Intellectual Disability Male Microphthalmos Syndrome Testosterone 5-alpha-Reductase
12
(4.0%)		 9222975
 A case of Lenz microphthalmia syndrome.
Ozkinay FF, Ozkinay C, Yuksel H, Yenigun A, Sapmaz G, Aksu O.
J Med Genet. 1997;34(7):604-6.
Cryptorchidism
Craniofacial Abnormalities Homo sapiens Magnetic Resonance Imaging Male Microphthalmos Syndrome
12
(4.0%)		 1225823
 Linkage studies in Lenz microphthalmia.
Ogunye OO, Murray RF, Osgood T.
Hum Hered. 1975;25(6):493-500.
Microphthalmia
Glucosephosphate Dehydrogenase Homo sapiens Infant Infant, Newborn Male Microphthalmos Phenotype Sex Chromosomes
        

Phenotype(s) retrieved from Orphanet

    Total: 42

HPO ID Term Frequency
HP:0000568 Microphthalmia Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000047 Hypospadias Frequent (79-30%)
HP:0000072 Hydroureter Frequent (79-30%)
HP:0000126 Hydronephrosis Frequent (79-30%)
HP:0000164 Abnormality of the dentition Frequent (79-30%)
HP:0000202 Oral cleft Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0000482 Microcornea Frequent (79-30%)
HP:0000501 Glaucoma Frequent (79-30%)
HP:0000567 Chorioretinal coloboma Frequent (79-30%)
HP:0000588 Optic nerve coloboma Frequent (79-30%)
HP:0000612 Iris coloboma Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0006101 Finger syndactyly Frequent (79-30%)
HP:0006482 Abnormality of dental morphology Frequent (79-30%)
HP:0008572 External ear malformation Frequent (79-30%)
HP:0008678 Renal hypoplasia/aplasia Frequent (79-30%)
HP:0009943 Complete duplication of thumb phalanx Frequent (79-30%)
HP:0100490 Camptodactyly of finger Frequent (79-30%)
HP:0000365 Hearing impairment Occasional (29-5%)
HP:0000384 Preauricular skin tag Occasional (29-5%)
HP:0000465 Webbed neck Occasional (29-5%)
HP:0000505 Visual impairment Occasional (29-5%)
HP:0000518 Cataract Occasional (29-5%)
HP:0000639 Nystagmus Occasional (29-5%)
HP:0000684 Delayed eruption of teeth Occasional (29-5%)
HP:0000889 Abnormality of the clavicle Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0002167 Neurological speech impairment Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0002808 Kyphosis Occasional (29-5%)
HP:0003043 Abnormality of the shoulder Occasional (29-5%)
HP:0003307 Hyperlordosis Occasional (29-5%)
HP:0007370 Aplasia/Hypoplasia of the corpus callosum Occasional (29-5%)
HP:0009755 Ankyloblepharon Occasional (29-5%)
HP:0100716 Self-injurious behavior Occasional (29-5%)
HP:0100818 Long thorax Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 14

HPO ID Term # of case reports
HP:0000568 Microphthalmia 5
HP:0000252 Microcephaly 4
HP:0000528 Anophthalmia 4
HP:0000518 Cataract 2
HP:0000047 Hypospadias 1
HP:0000062 Ambiguous genitalia 1
HP:0001144 Orbital cyst 1
HP:0001249 Intellectual disability 1
HP:0001508 Failure to thrive 1
HP:0002617 Dilatation 1
HP:0002751 Kyphoscoliosis 1
HP:0002808 Kyphosis 1
HP:0008453 Congenital kyphoscoliosis 1
HP:0012430 Cerebral white matter hypoplasia 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
BCOR BCL6 corepressor 54880
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit 8260