Keppen-lubinsky Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Keppen-Lubinsky syndrome is a very rare disorder characterized by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth (summary by Masotti et al., 2015).

Genes related to Keppen-lubinsky Syndrome

KCNJ6

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Clinical Features

Top most frequent phenotypes and symptoms related to Keppen-lubinsky Syndrome

Intellectual disability
Seizures
Global developmental delay
Microcephaly
Scoliosis
Growth delay
Failure to thrive
Micrognathia
Spasticity
Flexion contracture

And another 45 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Keppen-lubinsky Syndrome Is also known as generalized lipodystrophy-progeroid features-severe intellectual disability syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Keppen-lubinsky Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Generalized Lipodystrophy Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). CAV1, BSCL2, AGPAT2, FBN1, KCNJ6, CAVIN1 Specificity 17 % Genes 100 %
Comprehensive Lipodystrophy Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). ZMPSTE24, CAV1, BSCL2, TBC1D4, CIDEC, ADRA2A, AGPAT2, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, CAVIN1 Specificity 6 % Genes 100 %
Comprehensive Lipodystrophy Panel. By Genetic Services Laboratory University of Chicago (United States). ZMPSTE24, CAV1, BSCL2, TBC1D4, CIDEC, ADRA2A, AGPAT2, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, CAVIN1 Specificity 6 % Genes 100 %
Congenital Generalized Lipodystrophy Panel. By Genetic Services Laboratory University of Chicago (United States). CAV1, BSCL2, AGPAT2, FBN1, KCNJ6, CAVIN1 Specificity 17 % Genes 100 %
Progeroid syndromes (NGS panel for 12 genes). By CGC Genetics (Portugal). BLM, WRN, ZMPSTE24, CAV1, BANF1, SPRTN, ERCC6, ERCC8, FBN1, KCNJ6, LMNA, POLD1 Specificity 9 % Genes 100 %
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes). By CGC Genetics (Portugal). BLM, WRN, ZMPSTE24, CAV1, BSCL2, BANF1, TBC1D4, CIDEC, SPRTN, AGPAT2, ERCC6, ERCC8, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PCYT1A, PIK3R1 , (...) View the complete list with 5 more genes Panel complete gene list BLM, WRN, ZMPSTE24, CAV1, BSCL2, BANF1, TBC1D4, CIDEC, SPRTN, AGPAT2, ERCC6, ERCC8, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PCYT1A, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, CAVIN1 Specificity 4 % Genes 100 %
Progeroid syndromes (NGS panel for 12 genes). By CGC Genetics (Portugal). BLM, WRN, ZMPSTE24, CAV1, BANF1, SPRTN, ERCC6, ERCC8, FBN1, KCNJ6, LMNA, POLD1 Specificity 9 % Genes 100 %
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes). By CGC Genetics (Portugal). BLM, WRN, ZMPSTE24, CAV1, BSCL2, BANF1, TBC1D4, CIDEC, SPRTN, AGPAT2, ERCC6, ERCC8, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PCYT1A, PIK3R1 , (...) View the complete list with 5 more genes Panel complete gene list BLM, WRN, ZMPSTE24, CAV1, BSCL2, BANF1, TBC1D4, CIDEC, SPRTN, AGPAT2, ERCC6, ERCC8, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PCYT1A, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, CAVIN1 Specificity 4 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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