Keppen-Lubinsky syndrome

A rare, genetic, primary lipodystrophy syndrome characterized by severe developmental delay and intellectual disability, hypertonia, hyperreflexia, microcephaly, tightly adherent skin, an aged appearance, severe generalized lipodystrophy, and distinct facial dysmorphism which includes large prominent eyes, narrow nasal bridge, tented upper lip vermilion, an open mouth, and high-arched palate. Laboratory analysis of serum and urine are normal.



Input patient's signs and symptoms


Narrow down the case reports



Total: 2 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(41.7%)		 25620207
 Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.
Masotti A, Uva P, Davis-Keppen L, Basel-Vanagaite L, Cohen L, Pisaneschi E, Celluzzi A, Bencivenga P, Fang M, Tian M, Xu X, Cappa M, Dallapiccola B.
Am J Hum Genet. 2015;96(2):295-300.
Open mouth Microcephaly
DSCR4 KCNJ1 KCNJ6
c|DEL|455_457| c|SUB|G|460|A;RS#:786204795 p|DEL|152| p|SUB|G|154|S;RS#:786204795 rs786204794 rs786204795 rs79499902
Base Sequence Craniofacial Abnormalities DNA Primers Developmental Disabilities Exome G Protein-Coupled Inwardly-Rectifying Potassium Ch... Homo sapiens Intellectual Disability Male Missense Mutation Models, Molecular Molecular Sequence Data Sequence Analysis, DNA Sequence Deletion Syndrome
2
(17.5%)		 29852244
 Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype.
Horvath GA, Zhao Y, Tarailo-Graovac M, Boelman C, Gill H, Shyr C, Lee J, Blydt-Hansen I, Drogemoller BI, Moreland J, Ross CJ, Wasserman WW, Masotti A, Slesinger PA, van Karnebeek CDM.
Neuroscience. 2018;384:152-164.
Dystonia Lipodystrophy
KCNJ3 KCNJ6
c|SUB|T|512|G p|SUB|L|171|R
Brain Child, Preschool DNA Mutational Analysis Electroencephalography Females G Protein-Coupled Inwardly-Rectifying Potassium Ch... Gain of Function Mutation Homo sapiens Hyperkinesia Movement Disorders
        

Phenotype(s) retrieved from Orphanet

    Total: 42

HPO ID Term Frequency
HP:0005328 Progeroid facial appearance Obligate (100%)
HP:0009059 Congenital generalized lipodystrophy Obligate (100%)
HP:0000194 Open mouth Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000322 Short philtrum Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001347 Hyperreflexia Very frequent (99-80%)
HP:0100678 Premature skin wrinkling Very frequent (99-80%)
HP:0000212 Gingival overgrowth Frequent (79-30%)
HP:0000218 High palate Frequent (79-30%)
HP:0000290 Abnormality of the forehead Frequent (79-30%)
HP:0000292 Loss of facial adipose tissue Frequent (79-30%)
HP:0000298 Mask-like facies Frequent (79-30%)
HP:0000430 Underdeveloped nasal alae Frequent (79-30%)
HP:0000446 Narrow nasal bridge Frequent (79-30%)
HP:0000496 Abnormality of eye movement Frequent (79-30%)
HP:0000520 Proptosis Frequent (79-30%)
HP:0000586 Shallow orbits Frequent (79-30%)
HP:0001090 Abnormally large globe Frequent (79-30%)
HP:0001276 Hypertonia Frequent (79-30%)
HP:0001285 Spastic tetraparesis Frequent (79-30%)
HP:0001371 Flexion contracture Frequent (79-30%)
HP:0001508 Failure to thrive Frequent (79-30%)
HP:0001561 Polyhydramnios Frequent (79-30%)
HP:0002093 Respiratory insufficiency Frequent (79-30%)
HP:0002094 Dyspnea Frequent (79-30%)
HP:0002179 Opisthotonus Frequent (79-30%)
HP:0002187 Intellectual disability, profound Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0002781 Upper airway obstruction Frequent (79-30%)
HP:0005274 Prominent nasal tip Frequent (79-30%)
HP:0006532 Recurrent pneumonia Frequent (79-30%)
HP:0008734 Decreased testicular size Frequent (79-30%)
HP:0008897 Postnatal growth retardation Frequent (79-30%)
HP:0009125 Lipodystrophy Frequent (79-30%)
HP:0009933 Narrow naris Frequent (79-30%)
HP:0010751 Dimple chin Frequent (79-30%)
HP:0010804 Tented upper lip vermilion Frequent (79-30%)
HP:0011344 Severe global developmental delay Frequent (79-30%)
HP:0001250 Seizures Occasional (29-5%)
HP:0002659 Increased susceptibility to fractures Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0001332 Dystonia 1
HP:0009125 Lipodystrophy 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
KCNJ6 potassium voltage-gated channel subfamily J member 6 3763