Alopecia-mental Retardation Syndrome 1; Apmr1

Description

Alopecia-mental retardation syndrome (APMR) is a rare autosomal recessive disorder in which affected individuals show loss of hair on the scalp, absence of eyebrows, eyelashes, and axillary and pubic hair, and mild to severe mental retardation (summary by Wali et al., 2007). Genetic Heterogeneity of Alopecia-Mental Retardation SyndromeAlopecia-mental retardation syndrome-1 (APMR1) has been mapped to chromosome 3q26.3-q27.3. Additional loci for alopecia-mental retardation syndrome have been mapped to chromosome 3q26.2-q26.31 (APMR2 ) and chromosome 18q11.2-q12.2 (APMR3 ).

Clinical Features

Top most frequent phenotypes and symptoms related to Alopecia-mental Retardation Syndrome 1; Apmr1

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay
  • Muscular hypotonia
  • Flexion contracture
  • Brachydactyly
And another 17 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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Alopecia-mental Retardation Syndrome 1; Apmr1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Amelogenesis Imperfecta Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LAMB3, LAMA3, ROGDI, CNNM4, FAM20A, AMELX, SLC24A4, DLX3, FAM83H, LTBP3, ENAM, KLK4, MMP20, ODAPH, WDR72, GPR68, ITGB6, SMOC2
Specificity
6 %
Genes
50 %
Amelogenesis imperfecta and related disorders Deletion/ Duplication panel.

By Connective Tissue Gene Tests in United States.

LAMB3, LAMA3, DSPP, FAM20A, AMELX, SLC24A4, DLX3, FAM83H, ENAM, KLK4, MMP20, ODAPH, WDR72, GPR68, ITGB6, SMOC2
Specificity
7 %
Genes
50 %
Amelogenesis imperfecta and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

LAMB3, LAMA3, DSPP, FAM20A, AMELX, SLC24A4, DLX3, FAM83H, ENAM, KLK4, MMP20, ODAPH, WDR72, GPR68, ITGB6, SMOC2
Specificity
7 %
Genes
50 %
Amelogenesis imperfecta and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

LAMB3, LAMA3, DSPP, FAM20A, AMELX, SLC24A4, DLX3, FAM83H, ENAM, KLK4, MMP20, ODAPH, WDR72, GPR68, ITGB6, SMOC2
Specificity
7 %
Genes
50 %
Amelogenesis imperfecta type 1H.

By Centogene AG - the Rare Disease Company in Germany.

ITGB6
Specificity
100 %
Genes
50 %
ITGB6.

By Fulgent Genetics Fulgent Genetics in United States.

ITGB6
Specificity
100 %
Genes
50 %
Amelogenesis Imperfecta and Dentinogenesis Imperfecta Panel.

By Blueprint Genetics in Finland.

LAMB3, DSPP, FAM20A, AMELX, SLC24A4, DLX3, FAM83H, LTBP3, ENAM, KLK4, MMP20, ODAPH, WDR72, GPR68, ITGB6
Specificity
7 %
Genes
50 %
AHSG.

By Fulgent Genetics Fulgent Genetics in United States.

AHSG
Specificity
100 %
Genes
50 %

Alternate names

Alopecia-mental Retardation Syndrome 1; Apmr1 Is also known as amr syndrome;perniola-krajewska-carnevale syndrome.



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