Partial Lipodystrophy, Congenital Cataracts, And Neurodegeneration Syndrome; Lccns

Table of contents:

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

Genes related to Partial Lipodystrophy, Congenital Cataracts, And Neurodegeneration Syndrome; Lccns

CAV1

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.

Click here to know more about Mendelian.

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.

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 Panel complete gene list RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2, RSPH1, CFAP298, CAV1, HPS3, HPS4, RTEL1, NME8, LRRC6, HPS5, DTNBP1, ACVRL1, INVS, CENPF, CCNO, DNAI2, HPS6, CFTR, DOCK8, ZMYND10, DNAAF2, BLOC1S3, RSPH3, RSPH9, DNAAF4, RSPH4A, DNAL1, DRC1, CSF2RA, CSF2RB, CCDC39, TTC25, ARMC4, OFD1, DNAAF5, CCDC40, CCDC114, FLCN, ELMOD2, CCDC151, DKC1, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, CCDC65, DNAAF3, DNAAF1, DNAJB13, EDN3, EFEMP2, CCDC103, ABCA3, ELN, ENG, FBLN5, FOXF1, MCIDAS, GAS8, GDF2, ALMS1, HPS1, AP3B1, KCNA5, KCNK3, LTBP4, SMAD4, SMAD9, MUC5B, BLOC1S6, PARN, SERPINA1, PHOX2B 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 %

You can get up to 54 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THROMBOCYTOPENIA WITH CONGENITAL DYSERYTHROPOIETIC ANEMIA EPISODIC PAIN SYNDROME, FAMILIAL, 2; FEPS2 ATRIAL FIBRILLATION, FAMILIAL, 11; ATFB11 LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; LMHD CARNEY COMPLEX VARIANT IMMUNODEFICIENCY 34; IMD34 OVARIAN DYSGENESIS 3; ODG3