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 ).

Genes related to Alopecia-mental Retardation Syndrome 1; Apmr1

ITGB6
AHSG

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.

Click here to know more about Mendelian.

Incidence and onset information

— Not enough data available about incidence and published cases.

Accelerate your rare disease diagnosis with us

Learn more

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.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE; PLTEID MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS; JDSCD ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY; SIDBA3