Limb-mammary Syndrome

Table of contents:

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

Description

Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.

Genes related to Limb-mammary Syndrome

TP63

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Limb-mammary Syndrome

Cleft palate
Syndactyly
Hypogonadism
Camptodactyly
Hypodontia
Bifid uvula
Ectodermal dysplasia
Nail dysplasia
Amenorrhea
Primary amenorrhea

And another 10 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.

Researches and researchers

Doctors, researchs, and experts related to Limb-mammary Syndrome extracted from public data.

Limb-mammary Syndrome Experts map

Current Researchs and researchers

KÖLN — Dr Hans Christian HENNIES
Responsible for diagnostic tests - Investigator of research project - Manager of registry - Coordinator of research network - Director of laboratory
- Institution/s:
  — Cologne Center for Genomics (CCG) der Universität zu Köln
- Research area/topic::
  SkinDev: In vitro and in vivo models of congenital rare skin diseases for molecular characterization and drug screening

Limb-mammary Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
P63-related disorders. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). TP63 Specificity 100 % Genes 100 %
TP63 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). TP63 Specificity 100 % Genes 100 %
Hypospadias Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2 , (...) View the complete list with 41 more genes Panel complete gene list SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2, B3GLCT, BCOR, CUL7, FAT4, CREBBP, FREM2, MAMLD1, CYP11A1, TMEM70, ESCO2, DHCR7, SPECC1L, WDR35, EPG5, DNMT3B, EFNB1, EVC, FGF10, FGFR1, FGFR2, FGFR3, FLNA, GLI3, GPC3, HBA1, HCCS, HOXA13, HSD3B2, IRF6, AR, MAP3K1, MID1, MKKS, NR5A1, PDE4D, PEX1, ATRX, PITX2, PTDSS1, PTPN11, RBBP8 Specificity 2 % Genes 100 %
TP63. By Institute for Human Genetics University Clinic Freiburg (Germany). TP63 Specificity 100 % Genes 100 %
TP63. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). TP63 Specificity 100 % Genes 100 %
TP63. Sequencing of the exon 3. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). TP63 Specificity 100 % Genes 100 %
TP63. Sequencing of the exons 13 and 14. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). TP63 Specificity 100 % Genes 100 %
TP63,EDA,EDAR,EDARADD,WNT10A, NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). WNT10A, EDARADD, TP63, EDAR, EDA Specificity 20 % Genes 100 %