Leptin Deficiency Or Dysfunction; Lepd

Description

Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia.

Clinical Features

Top most frequent phenotypes and symptoms related to Leptin Deficiency Or Dysfunction; Lepd

  • Coma
  • Obesity
  • Pneumonia
  • Recurrent infections
  • Micropenis
  • Hypogonadism
  • Hypothyroidism
  • Difficulty walking
  • Infertility
  • Decreased testicular size
And another 27 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Leptin Deficiency Or Dysfunction; Lepd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
LEP Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

LEP
Specificity
100 %
Genes
100 %
LEP Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

LEP
Specificity
100 %
Genes
100 %
Monogenic Obesity Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

ARL6, MKKS, CEP290, TTC8, TRIM32, UCP3, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1, LEP, LEPR, PCSK1, POMC , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Non-syndromic Monogenic Obesity Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

UCP3, LEP, LEPR, POMC, MC4R, DYRK1B, NR0B2
Specificity
15 %
Genes
100 %
Monogenic Obesity Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

ARL6, MKKS, CEP290, TTC8, TRIM32, UCP3, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1, LEP, LEPR, PCSK1, POMC , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Non-Syndromic Monogenic Obesity Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

UCP3, LEP, LEPR, POMC, MC4R, DYRK1B, NR0B2
Specificity
15 %
Genes
100 %
LEP. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

LEP
Specificity
100 %
Genes
100 %
Morbid obesity (sequence analysis of LEP gene).

By CGC Genetics in Portugal.

LEP
Specificity
100 %
Genes
100 %
Leptin deficiency.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

LEP
Specificity
100 %
Genes
100 %
Non-Syndromic Monogenic Obesity via the LEP Gene.

By PreventionGenetics PreventionGenetics in United States.

LEP
Specificity
100 %
Genes
100 %
Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SOX2, HESX1, CHD7, LEP, LEPR, PCSK1, PROP1, NR0B1, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, SOX10, SEMA3E, SOX3 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Non-Syndromic Monogenic Obesity Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LEP, LEPR, PCSK1, POMC, MC4R
Specificity
20 %
Genes
100 %
Female Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, GALT, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1 , (...)

View the complete list with 83 more genes
Specificity
1 %
Genes
100 %
Male Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1, HESX1 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, GALT, BBS7 , (...)

View the complete list with 186 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, BBS7, BBS5 , (...)

View the complete list with 138 more genes
Specificity
1 %
Genes
100 %
Obesity.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

LEP, LEPR, POMC, MC4R, MC3R
Specificity
20 %
Genes
100 %
LEP.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

LEP
Specificity
100 %
Genes
100 %
Single gene testing LEP.

By CeGaT GmbH in Germany.

LEP
Specificity
100 %
Genes
100 %
LEPTIN (LEP).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

LEP
Specificity
100 %
Genes
100 %
Mixed hyperlipidemias.

By Health in Code in Spain.

PPARG, CAVIN1, LEP, LMNA, BSCL2, CAV1, ZMPSTE24, AKT2, INSR, CIDEC, PLIN1, AGPAT2, INSIG2
Specificity
8 %
Genes
100 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
100 %
Dyslipidemias / Early atherosclerosis.

By Health in Code in Spain.

HNF1A, NEUROD1, PPARG, HNF1B, CPT2, WFS1, PCDH15, GCK, GPD1, CAVIN1, PNPLA2, MEF2A, COQ2, PYGM, LDLR, LEP, LIPA, MTTP, LMNA, APOE , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
Obesity, severe.

By Praxis fuer Humangenetik Wien in Austria.

LEP
Specificity
100 %
Genes
100 %
Obesity, severe.

By MedGene in Slovakia.

LEP
Specificity
100 %
Genes
100 %
Congenital Obesity: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ARL6, MKKS, CEP290, TTC8, TRIM32, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1, LEP, LEPR, PCSK1, POMC, MC4R , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Diabetes-Obesity NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HNF1A, NEUROD1, HNF1B, WFS1, ARL6, MKKS, CEP290, TTC8, TRIM32, GCK, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
LEP.

By Fulgent Genetics Fulgent Genetics in United States.

LEP
Specificity
100 %
Genes
100 %
Monogenic Obesity Panel.

By Blueprint Genetics in Finland.

PPARG, ARL6, MKKS, CEP290, TTC8, TRIM32, UCP3, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1, LEP, LEPR, PCSK1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Obesity due to congenital leptin deficiency.

By Bioarray in Spain.

LEP
Specificity
100 %
Genes
100 %
Early Onset Obesity NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

LEP, LEPR, PCSK1, POMC, MC4R
Specificity
20 %
Genes
100 %
LEP Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

LEP
Specificity
100 %
Genes
100 %
MONOGENIC OBESITY DUE TO MELANOCORTIN-LEPTIN PATHWAY DEFICIENCY.

By Laboratorio de Genetica Clinica SL in Spain.

LEP, LEPR, PCSK1, POMC, MC4R, MC3R
Specificity
17 %
Genes
100 %
Morbid Obesity , Sequencing LEP Gene.

By Reference Laboratory Genetics in Spain.

LEP
Specificity
100 %
Genes
100 %
Severe Obesity (Susceptibility to) , Panel Massive Sequencing (NGS) 18 Genes.

By Reference Laboratory Genetics in Spain.

PPARG, UCP1, UCP3, PPARGC1B, LEP, LEPR, POMC, MC4R, SIM1, NR0B2, ENPP1, CARTPT, MC3R, ADRB2, ADRB3, AGRP, GHRL, SDC3
Specificity
6 %
Genes
100 %

Alternate names

Leptin Deficiency Or Dysfunction; Lepd Is also known as obesity, morbid, nonsyndromic 1;.



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