Alacrima, Achalasia, And Mental Retardation Syndrome; Aamr

Description

Alacrima, achalasia, and mental retardation syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome (OMIM ), but patients with AAMR do not have adrenal insufficiency (summary by Koehler et al., 2013).See also {300858} for a phenotypically similar disorder that shows X-linked inheritance.

Clinical Features

Top most frequent phenotypes and symptoms related to Alacrima, Achalasia, And Mental Retardation Syndrome; Aamr

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Muscular hypotonia
  • Spasticity
  • Feeding difficulties
  • Delayed speech and language development

And another 13 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.
No data available about the known clinical features onset.

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.


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Alacrima, Achalasia, And Mental Retardation Syndrome; Aamr Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC35A1, SLC35A2, SSR4, COG5, ALG9, NGLY1, TMEM199, ALG1, ATP6V0A2, COG4, COG6, COG7, COG8, ALG12, SLC35C1, DHDDS, SLC39A8, GMPPA, ALG3, ALG6 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Mental retardation - different panels.

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

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
Congenital Disorders of Glycosylation (CDG).

By MGZ Medical Genetics Center (Germany).

SLC35A1, SLC35A2, SSR4, COG5, ALG9, ALG1, COG4, COG6, COG7, COG8, ALG12, SLC35C1, DHDDS, GMPPA, ALG3, ALG6, ALG8, DOLK, MOGS, SRD5A3 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Invitae Congenital Disorders of Glycosylation Panel.

By Invitae (United States).

SEC23B, SLC35A1, SLC35A2, SSR4, TRIP11, COG5, ALG9, NGLY1, ALG1, ATP6V0A2, COG4, COG6, COG7, COG8, ALG12, SLC35C1, B3GLCT, DHDDS, GMPPA, GMPPB , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Achalasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States).

ACTB, AAAS, GMPPA, FLVCR1, AIRE, GUCY1A1
Specificity
17 %
Genes
100 %
GMPPA.

By Fulgent Genetics Fulgent Genetics (United States).

GMPPA
Specificity
100 %
Genes
100 %
Congenital Disorders of Glycosylation Panel.

By Blueprint Genetics (Finland).

SEC23B, SLC35A1, SLC35A2, SSR4, COG5, ALG9, NGLY1, ALG1, ATP6V0A2, COG4, COG6, COG7, COG8, ALG12, SLC35C1, B3GLCT, DHDDS, GMPPA, ALG3, ALG6 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics (Finland).

BCS1L, CNNM2, RYR1, CNNM4, SCN4A, SEC23B, SGSH, SI, SLC40A1, SLC12A3, SLC16A1, SLC17A5, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC2A1, SLC2A2 , (...)

View the complete list with 411 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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