GMPPA gene related symptoms and diseases

All the information presented here about the GMPPA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GMPPA gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Anisocoria Very Common - Between 80% and 100% cases
Adrenal insufficiency Very Common - Between 80% and 100% cases
Orthostatic hypotension Very Common - Between 80% and 100% cases
Hyperkeratosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with GMPPA gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hyperhidrosis
  • Achalasia
  • Alacrima
  • Dysphagia
  • Hypotension
  • Global developmental delay
  • Feeding difficulties
  • Muscular hypotonia

And 59 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GMPPA gene

Here you will find a list of rare diseases related to the GMPPA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


TRIPLE A SYNDROME


Alternate names

TRIPLE A SYNDROME Is also known as glucocorticoid deficiency and achalasia, quaternary a syndrome, addisonian-achalasia syndrome, achalasia-addisonianism-alacrima syndrome, alacrima-achalasia-adrenal insufficiency neurologic disorder, 2a syndrome, 3a syndrome, adrenal insufficiency-achalasia-alac

Description

Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.

Most common symptoms of TRIPLE A SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


More info about TRIPLE A SYNDROME

SOURCES: ORPHANET OMIM

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.

Most common symptoms of ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Nystagmus


More info about ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR

SOURCES: OMIM


Potential gene panels for GMPPA gene

Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 TMEM199 ALG1 ATP6V0A2 COG4

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Congenital Disorders of Glycosylation (CDG) Panel

Germany.

By MGZ Medical Genetics Center Congenital Disorders of Glycosylation (CDG) that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 ALG1 COG4 COG6 COG7 COG8

More info about this panel

Invitae Congenital Disorders of Glycosylation Panel Panel

United States.

By Invitae Invitae Congenital Disorders of Glycosylation Panel that also includes the following genes: SEC23B SLC35A1 SLC35A2 SSR4 TRIP11 COG5 ALG9 NGLY1 ALG1 ATP6V0A2

More info about this panel

Achalasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Achalasia: Sequencing Panel that also includes the following genes: ACTB AAAS GMPPA FLVCR1 AIRE GUCY1A1

More info about this panel

GMPPA Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GMPPA gene.

More info about this panel

Congenital Disorders of Glycosylation Panel Panel

Finland.

By Blueprint Genetics Congenital Disorders of Glycosylation Panel that also includes the following genes: SEC23B SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 ALG1 ATP6V0A2 COG4

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel


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