1. Mendelian
  2. Rare Diseases
  3. MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB

Mandibuloacral Dysplasia With Type B Lipodystrophy; Madb

Table of contents:

Genes related to Mandibuloacral Dysplasia With Type B Lipodystrophy; Madb

  • ZMPSTE24

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Mandibuloacral Dysplasia With Type B Lipodystrophy; Madb

  • Growth delay
  • Micrognathia
  • Flexion contracture
  • High palate
  • Abnormality of the skeletal system
  • Short nose
  • Alopecia
  • Narrow mouth
  • Proptosis
  • Retrognathia

And another 58 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

Mandibuloacral Dysplasia With Type B Lipodystrophy; Madb Is also known as lipodystrophy, type b, associated with mandibuloacral dysplasia.

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.

Mandibuloacral Dysplasia With Type B Lipodystrophy; Madb Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Contractures Panel.

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

SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...)

View the complete list with 37 more genes
Specificity
2 %
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 %
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 %
Partial Lipodystrophy 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 %
Lethal Restrictive Dermopathy, ZMPSTE24-Related.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

ZMPSTE24
Specificity
100 %
Genes
100 %
Mandibuloacral Dysplasia.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

ZMPSTE24, LMNA
Specificity
50 %
Genes
100 %
Mandibuloacral dysplasia with type B lipodystrophy (sequence analysis of ZMPSTE24 gene).

By CGC Genetics (Portugal).

ZMPSTE24
Specificity
100 %
Genes
100 %

You can get up to 49 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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