Renpenning syndrome

Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature.



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Narrow down the case reports



Total: 5 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(40.2%)		 30143497
 First Korean Case of Renpenning Syndrome with Novel Mutation in PQBP1 Diagnosed by Targeted Exome Sequencing, and Literature Review.
Jeong HI, Yang A, Kim J, Jang JH, Cho SY, Jin DK.
Ann Clin Lab Sci. 2018;48(4):522-527.
Microcephaly Narrow face
PQBP1
c|DEL|559|T
Asians Base Sequence Carrier Proteins Cerebral Palsy DNA Mutational Analysis DNA-Binding Proteins Homo sapiens Infant Male Mental Retardation, X-Linked Mutation Nuclear Proteins Whole Exome Sequencing
1
(40.2%)		 15782410
 Renpenning syndrome comes into focus.
Stevenson RE, Bennett CW, Abidi F, Kleefstra T, Porteous M, Simensen RJ, Lubs HA, Hamel BC, Schwartz CE.
Am J Med Genet A. 2005;134(4):415-21.
Microcephaly Narrow face
DLG3 PQBP1
rs121917899 rs1557041239 rs1557041891 rs606231193 rs781844953 rs868977761
Adult Carrier Proteins DNA Mutational Analysis DNA-Binding Proteins Face Females Growth Disorders Homo sapiens Male Mental Retardation, X-Linked Microcephaly Middle Aged Mutation Nuclear Proteins Polymerase Chain Reaction Sex Factors Single-Stranded Conformational Polymorphism Syndrome Testis
1
(40.2%)		 15355434
 Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1).
Kleefstra T, Franken CE, Arens YH, Ramakers GJ, Yntema HG, Sistermans EA, Hulsmans CF, Nillesen WN, van Bokhoven H, de Vries BB, Hamel BC.
Clin Genet. 2004;66(4):318-26.
Microcephaly Narrow face
PQBP1
rs1557041239 rs1557041891 rs606231193 rs781844953 rs868977761
Adult Carrier Proteins Child Child, Preschool DNA-Binding Proteins Family Females Genotype Homo sapiens Infant Male Mental Retardation, X-Linked Middle Aged Mutation Nuclear Proteins Phenotype Syndrome
4
(39.0%)		 21204222
 Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning.
Flynn M, Zou YS, Milunsky A.
Am J Med Genet A. 2011;155A(1):141-4.
Microcephaly
EHD4 PQBP1
Carrier Proteins Cerebral Palsy Chromosome Aberrations Chromosomes, Human, X DNA-Binding Proteins Disease Progression Fluorescent in Situ Hybridization Gene Duplication Homo sapiens Male Mental Retardation, X-Linked Microarray Analysis Nuclear Proteins Phenotype Single Nucleotide Polymorphism
4
(39.0%)		 9545405
 Renpenning syndrome maps to Xp11.
Stevenson RE, Arena JF, Ouzts E, Gibson A, Shokeir MH, Vnencak-Jones C, Lubs HA, May M, Schwartz CE.
Am J Hum Genet. 1998;62(5):1092-101.
Microcephaly
PQBP1
rs606231196
Adult Chromosome Mapping Females Homo sapiens Intellectual Disability Male Middle Aged Syndrome X Chromosome
        

Phenotype(s) retrieved from Orphanet

    Total: 42

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0003202 Skeletal muscle atrophy Very frequent (99-80%)
HP:0003510 Severe short stature Very frequent (99-80%)
HP:0004326 Cachexia Very frequent (99-80%)
HP:0000047 Hypospadias Frequent (79-30%)
HP:0000272 Malar flattening Frequent (79-30%)
HP:0000274 Small face Frequent (79-30%)
HP:0000275 Narrow face Frequent (79-30%)
HP:0000276 Long face Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000303 Mandibular prognathia Frequent (79-30%)
HP:0000322 Short philtrum Frequent (79-30%)
HP:0000400 Macrotia Frequent (79-30%)
HP:0000448 Prominent nose Frequent (79-30%)
HP:0000582 Upslanted palpebral fissure Frequent (79-30%)
HP:0000772 Abnormality of the ribs Frequent (79-30%)
HP:0000912 Sprengel anomaly Frequent (79-30%)
HP:0001510 Growth delay Frequent (79-30%)
HP:0001596 Alopecia Frequent (79-30%)
HP:0008734 Decreased testicular size Frequent (79-30%)
HP:0045074 Thin eyebrow Frequent (79-30%)
HP:0100830 Round ear Frequent (79-30%)
HP:0000160 Narrow mouth Occasional (29-5%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000407 Sensorineural hearing impairment Occasional (29-5%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0000518 Cataract Occasional (29-5%)
HP:0000612 Iris coloboma Occasional (29-5%)
HP:0000767 Pectus excavatum Occasional (29-5%)
HP:0000819 Diabetes mellitus Occasional (29-5%)
HP:0001172 Abnormal thumb morphology Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001387 Joint stiffness Occasional (29-5%)
HP:0001572 Macrodontia Occasional (29-5%)
HP:0002023 Anal atresia Occasional (29-5%)
HP:0002705 High, narrow palate Occasional (29-5%)
HP:0003328 Abnormal hair laboratory examination Occasional (29-5%)
HP:0004209 Clinodactyly of the 5th finger Occasional (29-5%)
HP:0008499 High hypermetropia Occasional (29-5%)
HP:0010761 Broad columella Occasional (29-5%)
HP:0030853 Heterotaxy Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 3

HPO ID Term # of case reports
HP:0000252 Microcephaly 1
HP:0001249 Intellectual disability 1
HP:0004322 Short stature 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID