We describe a consanguineous Israeli Arab kindred with five males in two interrelated families with intellectual disabilities, alacrima, achalasia, and mild autonomic dysfunction. Adrenal function is normal. [ncbi.nlm.nih.gov]

Previously, biallelic mutations in GMPPA were reported to cause a disorder characterized by achalasia, alacrima, neurological deficits, and intellectual disability. [jhu.pure.elsevier.com]

disabled children with autistic traits and ocular involvement. ( 29475819 ) Pascolini G....Digilio M.C. 2018 4 Overlapping and Distinct Cognitive Impairments in Attention-Deficit/Hyperactivity and Autism Spectrum Disorder without Intellectual Disability [malacards.org]

In Ireland people with an intellectual disability are identified in the national census. Moreover, a national register of people receiving or requiring intellectual disability services is maintained and updated annually. [readbyqxmd.com]

[…] for Achalasia Causes See also causal information: Causes of Alacrima Causes of Mental retardation Causes of Intellectual disabilities Causes of Achalasia Similar Topic Articles Mental retardation Intellectual disability Alacrima Achalasia • • • References [familydiagnosis.com]

All patients had global developmental delay, a movement disorder, and hypotonia. [nature.com]

Affected individuals may also have dysautonomia, developmental delay, intellectual disability, speech problems, a small head size, muscle weakness, movement problems, peripheral neuropathy, and optic atrophy. [diseaseinfosearch.org]

These patients suffer from achalasia, alacrima, short stature, developmental delay, seizures, and cerebral atrophy, but also lack adrenal insufficiency. The protein product seems to be important for an intact Golgi apparatus. [abstracts.eurospe.org]

Clinical characteristics are congenital generalized ichthyosis, vacuolated leukocytes, hepatomegaly, myopathy, cataracts, neurosensory hearing loss and developmental delay. [nectarmutation.org]

People with this condition may have other neurological abnormalities, such as developmental delay, intellectual disability, speech problems (dysarthria), and a small head size ( microcephaly ). [ghr.nlm.nih.gov]

Affected individuals may also have dysautonomia, developmental delay, intellectual disability, speech problems, a small head size, muscle weakness, movement problems, peripheral neuropathy, and optic atrophy. [diseaseinfosearch.org]

On examination mild palatal weakness was noted but tendon reflexes were preserved and no firm diagnosis was made. [jnnp.bmj.com]

Most patients (72.8%) display neurological impairment, most frequently distal muscular weakness, hyperreflexia, nasal speech, and autonomic dysfunction. [abstracts.eurospe.org]

In addition, affected individuals commonly experience muscle weakness, movement problems, and nerve abnormalities in their extremities (peripheral neuropathy). [ghr.nlm.nih.gov]

Affected individuals may also have developmental delay, intellectual disability, speech problems, a small head size, muscle weakness, movement problems, peripheral neuropathy, and optic atrophy. [rarediseases.info.nih.gov]

[…] system Orthostatic hypotension Abnormality of the digestive system Achalasia Dysphagia Feeding difficulties Abnormality of the endocrine system Adrenal insufficiency Abnormality ... ... [familydiagnosis.com]

It can lead to severe feeding difficulties and low blood sugar (hypoglycemia). [ghr.nlm.nih.gov]

RESULTS: The patient presented with global developmental delay, hypotonia, autistic-like traits, mild facial dysmorphism and other features including short stature, small hands and feet, congenital heart disease and feeding difficulty... [readbyqxmd.com]

The main features of Addison disease include fatigue, loss of appetite, weight loss, low blood pressure, and darkening of the skin. The third major feature of triple A syndrome is a reduced or absent ability to secrete tears (alacrima). [ghr.nlm.nih.gov]

She was noted to have a nasal voice as a child. She underwent a Heller’s cardiomyotomy for achalasia of the cardia aged 24. She first presented to the neurology service 10 years later with paraesthesiae in the right arm and hand. [jnnp.bmj.com]

[…] system Orthostatic hypotension Abnormality of the digestive system Achalasia Dysphagia Feeding difficulties Abnormality of the endocrine system Adrenal insufficiency Abnormality ... ... [familydiagnosis.com]

Recognition of the syndrome presenting in adult life permits treatment of unrecognised autonomic dysfunction, adrenal insufficiency, and dysphagia. [jnnp.bmj.com]

Esophageal manometry and esophagograms eventually disclose esophageal dysmotility in almost all patients, independently of the presence of clinical dysphagia [ 21 ]. [hon.ch]

Esophageal motility tests are pertinent in patients presenting with dysphagia, food regurgitation, or both. Determine serum sodium, potassium, aldosterone, and renin levels. [emedicine.medscape.com]

613443 600662 Autosomal dominant MEFV 16p13.3 Familial Mediterranean fever, AR 249100 608107 Autosomal recessive MEFV 16p13.3 Familial Mediterranean fever, AD 134610 608107 Autosomal dominant MEGF10 5q23.2 Myopathy, areflexia, respiratory distress, and dysphagia [mnglabs.com]

Complex hereditary spastic paraplegia Complex regional pain syndrome Complex regional pain syndrome type 1 Complex regional pain syndrome type 2 Cone rod dystrophy Congenital absence/hypoplasia of thumb Congenital adrenal hyperplasia Congenital chloride diarrhea [sanfordresearch.org]

Sequencing of RPS19 gene Diamond-Blackfan anemia 6 Sanger Sequencing of RPL5 gene Diamond-Blackfan anemia 9 Sanger Sequencing of RPS10 gene Diaphanospondylodysostosis Sequencing of the BMPER gene Diaphragmatic hernia 3 Sanger Sequencing of the gene ZFPM2 Diarrhea [pentacorelab.hu]

[…] to thrive, global developmental delay, and liver impairment, these features are nonspecific. [nature.com]

The main features of Addison disease include fatigue, loss of appetite, weight loss, low blood pressure, and darkening of the skin. The third major feature of triple A syndrome is a reduced or absent ability to secrete tears (alacrima). [ghr.nlm.nih.gov]

In infancy, she was noted to have global developmental delay, acquired microcephaly, bilateral exotropia, hypotonia, and constipation. [nature.com]

Symptoms of Alacrima, achalasia, and mental retardation syndrome Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of the abdomen Achalasia Dysphagia Feeding difficulties Abnormality of the cardiovascular system Orthostatic hypotension [familydiagnosis.com]

The syndrome usually presents during the first decade of life with dysphagia or severe (occasionally fatal) hypoglycaemic or hypotensive attacks, related to adrenocortical insufficiency. [jnnp.bmj.com]

There may also be signs of autonomic dysfunction with AAA, such as pupillary abnormalities, an abnormal reaction to intradermal histamine, abnormal sweating, orthostatic hypotension, and disturbances of the heart rate. [5] Hypoglycemia (low blood sugar [en.wikipedia.org]

Specific autonomic disturbances described in this syndrome include abnormal pupillary reflexes, poor heart rate variability, and orthostatic hypotension. [rarediseases.info.nih.gov]

Further investigations showed an autonomic dysfunction with postural hypotension and abnormal heart reflexes. [bmcophthalmol.biomedcentral.com]

hypotension Abnormality of the digestive system Achalasia Dysphagia Feeding difficulties Abnormality of the endocrine system Adrenal insufficiency Abnormality ... ... [familydiagnosis.com]

There may also be signs of autonomic dysfunction with AAA, such as pupillary abnormalities, an abnormal reaction to intradermal histamine, abnormal sweating, orthostatic hypotension, and disturbances of the heart rate. [5] Hypoglycemia (low blood sugar [en.wikipedia.org]

Specific autonomic disturbances described in this syndrome include abnormal pupillary reflexes, poor heart rate variability, and orthostatic hypotension. [rarediseases.info.nih.gov]

Currently he remains ambulant but has developed dysarthria and refractory orthostatic hypotension. On examination he had dysmorphic facial features with dysarthria and nasal speech. [jnnp.bmj.com]

Affected individuals may also have dysautonomia, developmental delay, intellectual disability, speech problems, a small head size, muscle weakness, movement problems, peripheral neuropathy, and optic atrophy. [diseaseinfosearch.org]

In addition, affected individuals commonly experience muscle weakness, movement problems, and nerve abnormalities in their extremities (peripheral neuropathy). [ghr.nlm.nih.gov]

Affected individuals may also have developmental delay, intellectual disability, speech problems, a small head size, muscle weakness, movement problems, peripheral neuropathy, and optic atrophy. [rarediseases.info.nih.gov]

Palatopharyngeal incompetence, sensory impairment, ataxia, and muscle weakness are among the documented findings. Histologic Findings A lacrimal gland biopsy from a child with Allgrove syndrome was examined with an electron microscope. [emedicine.medscape.com]

Affected individuals may also have dysautonomia, developmental delay, intellectual disability, speech problems, a small head size, muscle weakness, movement problems, peripheral neuropathy, and optic atrophy. [diseaseinfosearch.org]

People with this condition may have other neurological abnormalities, such as developmental delay, intellectual disability, speech problems (dysarthria), and a small head size ( microcephaly ). [ghr.nlm.nih.gov]

Affected individuals may also have developmental delay, intellectual disability, speech problems, a small head size, muscle weakness, movement problems, peripheral neuropathy, and optic atrophy. [rarediseases.info.nih.gov]

More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome, but patients with AAMR do not have adrenal insufficiency. [genecards.org]

Author Sex Adrenal Neurological Associated deficiency abnormalities pathology Allgrove M Glucocorticoid No Hyperkeratosis of the (1978) [2] palms and soles, palm creases M Glucocorticoid No Episodic anisocoria, palm creases F Glucocorticoid No Enlargement [hon.ch]

People with triple A syndrome often experience abnormal sweating, difficulty regulating blood pressure, unequal pupil size (anisocoria), and other signs and symptoms of autonomic nervous system dysfunction (dysautonomia). [ghr.nlm.nih.gov]

Formal pupillometry, when available, may demonstrate anisocoria and slowed constriction velocity. Ophthalmologic evaluation for lacrimal dysfunction Ophthalmologic testing is warranted in children with Allgrove syndrome. [emedicine.medscape.com]

In this study, we report a female proband with achalasia, alacrima, hypohydrosis, apparent intellectual disability, seizures, microcephaly, esotropia, and craniofacial dysmorphism. [jhu.pure.elsevier.com]

Spinocerebellar ataxia 34133190 EMC1134.610.99Cerebellar atrophy, visual impairment, and psychomotor retardation,616875 EMX2121.810.99Schizencephaly,269160 EP300205.70.990.98Colorectal cancer, somatic,114500 EP300205.70.990.98Rubinstein-Taybi syndrome [qgenomics.com]

retardation, epilepsy and craniofacial dysmorphism, 614501 PTEN PTEN hamartoma tumor syndrome CPS1 Pulmonary hypertension, neonatal, susceptibility to, 615371 PC Pyruvate carboxylase deficiency, 266150 PDHA1 Pyruvate dehydrogenase E1-alpha deficiency [gsdseq.ir]

Affected individuals may also have dysautonomia, developmental delay, intellectual disability, speech problems, a small head size, muscle weakness, movement problems, peripheral neuropathy, and optic atrophy. [diseaseinfosearch.org]

neuropathy Acquired von Willebrand syndrome Acral peeling skin syndrome Acromegaly Acromesomelic dysplasia Actinic prurigo Activated PIK3-delta syndromea Acute adrenal insufficiency Acute biphenotypic leukemia Acute disseminated encephalomyelitis Acute [sanfordresearch.org]

In addition, affected individuals commonly experience muscle weakness, movement problems, and nerve abnormalities in their extremities (peripheral neuropathy). [ghr.nlm.nih.gov]

Neuropathy (Andermann Syndrome) Alport Syndrome, Autosomal Recessive Antley-Bixler syndrome Argininosuccinic aciduria Arthrogryposis, Mental Retardation, & seizures Aspartylglycosaminuria Ataxia neuropathy spectrum (ANS) Ataxia with vitamin E deficiency [genpathdiagnostics.com]

Affected individuals may also have developmental delay, intellectual disability, speech problems, a small head size, muscle weakness, movement problems, peripheral neuropathy, and optic atrophy. [rarediseases.info.nih.gov]

Affected individuals may also have dysautonomia, developmental delay, intellectual disability, speech problems, a small head size, muscle weakness, movement problems, peripheral neuropathy, and optic atrophy. [diseaseinfosearch.org]

People with triple A syndrome often experience abnormal sweating, difficulty regulating blood pressure, unequal pupil size (anisocoria), and other signs and symptoms of autonomic nervous system dysfunction (dysautonomia). [ghr.nlm.nih.gov]

Hypomyelination Dihydrolipoamide dehydrogenase deficiency Dihyropyrimidine dehydrogenase deficiency Dyskeratosis Congenita, Autosomal Recessive 5 Ehlers-Danos Syndrome, Type VIIC Ethylmalonic encephalopathy Factor XI deficiency (Hemophilia C) Familial dysautonomia [genpathdiagnostics.com]

[…] hypnic myoclonus Erythromelalgia Fabry disease Facioscapulohumeral dystrophy Familial adenomatous polyposis Familial amyloid polyneuropathy Familial atypical multiple mole melanoma syndrome Familial bicuspid aortic valve Familial clubfoot due Familial dysautonomia [sanfordresearch.org]

Familial dysautonomia is caused by mutations of the IKAP gene. Am J Hum Genet 2001; 68 :753–758. 20. Edvardson S, Cinnamon Y, Jalas C, et al. Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. Ann Neurol 2012; 71 :569–572. 21. [nature.com]

Currently he remains ambulant but has developed dysarthria and refractory orthostatic hypotension. On examination he had dysmorphic facial features with dysarthria and nasal speech. [jnnp.bmj.com]

People with this condition may have other neurological abnormalities, such as developmental delay, intellectual disability, speech problems (dysarthria), and a small head size ( microcephaly ). [ghr.nlm.nih.gov]

Most patients (72.8%) display neurological impairment, most frequently distal muscular weakness, hyperreflexia, nasal speech, and autonomic dysfunction. [abstracts.eurospe.org]

The authors describe two families with two affected siblings and a further unrelated patient with typical clinical features of Allgrove’s syndrome, who exhibit signs of multisystem neurological disease including hyperreflexia, muscle wasting, dysarthria [jnnp.bmj.com]