Partial Lipodystrophy, Congenital Cataracts, And Neurodegeneration Syndrome; Lccns

Clinical Features

Top most frequent phenotypes and symptoms related to Partial Lipodystrophy, Congenital Cataracts, And Neurodegeneration Syndrome; Lccns

  • Ataxia
  • Nystagmus
  • Micrognathia
  • Cataract
  • Babinski sign
  • Rod-cone dystrophy
  • Gait ataxia
  • Retinopathy
  • Congenital cataract
  • Lower limb muscle weakness

And another 22 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

Partial Lipodystrophy, Congenital Cataracts, And Neurodegeneration Syndrome; Lccns Is also known as lipodystrophy, partial, with congenital cataracts and neurodegeneration.

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.


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Partial Lipodystrophy, Congenital Cataracts, And Neurodegeneration Syndrome; Lccns Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Pulmonary Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %
Arterial Hypertension Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

BMPR1B, BMPR2, CAV1, ACVRL1, ABCA3, ENG, GDF2, KCNA5, KCNK3, SMAD4, SMAD9
Specificity
10 %
Genes
100 %
Pulmonary Arterial Hypertension Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

BMPR2, CAV1, ACVRL1, ABCA3, ENG, GDF2, KCNA5, KCNK3, SMAD4, SMAD9
Specificity
10 %
Genes
100 %
Partial Lipodystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

ZMPSTE24, CAV1, TBC1D4, CIDEC, ADRA2A, AKT2, LIPE, LMNA, LMNB2, PIK3R1, PLIN1, POLD1, PPARG, PSMB8
Specificity
8 %
Genes
100 %
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 %

We have 54 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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