Hyperreflexia, and Stomach cancer

Diseases related with Hyperreflexia and Stomach cancer

In the following list you will find some of the most common rare diseases related to Hyperreflexia and Stomach cancer that can help you solving undiagnosed cases.

Top matches:

Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994).For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (OMIM ).

PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME Is also known as howell-evans syndrome|keratosis palmaris et plantaris with esophageal cancer|palmoplantar hyperkeratosis-esophageal carcinoma syndrome|palmoplantar keratoderma with esophageal cancer|tylosis-oesophageal carcinoma syndrome|bennion-patterson syndrome|kerato

Related symptoms:

  • Neoplasm
  • Hepatomegaly
  • Dysphagia
  • Edema
  • Hernia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME

Related symptoms:

  • Seizures
  • Spasticity
  • Motor delay
  • Hyperreflexia
  • Myopia


SOURCES: OMIM MENDELIAN

More info about HYPEREKPLEXIA 2; HKPX2

Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 29 Is also known as spg29

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 29

Other less relevant matches:

Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual.

SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY Is also known as severe congenital encephalopathy due to mecp2 mutation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY

Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.

HEREDITARY HYPEREKPLEXIA Is also known as hereditary hyperexplexia|familial startle disease|kok disease|startle disease, familial|stiff baby syndrome|exaggerated startle reaction|sthe|congenital stiff man syndrome|stiff-baby syndrome|stiff-person syndrome, congenital|startle reaction, exaggerated

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY HYPEREKPLEXIA

Pontocerebellar hypoplasia type 8 (PCH8) is a novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.

PONTOCEREBELLAR HYPOPLASIA TYPE 8 Is also known as pontocerebellar hypoplasia due to chmp1a mutation|pch8

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 8

Combined oxidative phosphorylation deficiency-32 is an autosomal recessive neurodegenerative disorder characterized by onset of delayed psychomotor development and developmental regression in infancy. Affected individuals have multiple variable symptoms, including poor or absent speech, inability to walk, and abnormal movements. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem consistent with Leigh syndrome (OMIM ). Patient cells showed decreased activities of mitochondrial respiratory chain complexes, I, III, and IV, as well as impaired mitochondrial translation (summary by Lake et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32

3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.

3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY Is also known as mcc1 deficiency|3-methylcrotonylglycinuria i|mccd|3-methylcrotonylglycinuria|methylcrotonylglycinuria type i|mccd type 1|mcc deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY

Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.

AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY Is also known as ddc deficiency|aadc deficiency|dopa decarboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Pain
  • Ptosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY

Autosomal dominant spastic paraplegia-9A is a neurologic disorder characterized by onset of slowly progressive spasticity mainly affecting the lower limbs. The age at onset usually ranges from adolescence to adulthood, and patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency (summary by Coutelier et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (OMIM ).

SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A Is also known as spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux|cataracts with motor neuronopathy, short stature, and skeletal abnormalities

Related symptoms:

  • Global developmental delay
  • Short stature
  • Nystagmus
  • Muscle weakness
  • Cataract


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A

Top 5 symptoms//phenotypes associated to Hyperreflexia and Stomach cancer

Symptoms // Phenotype % cases
Gastroesophageal reflux Very Common - Between 80% and 100% cases
Spasticity Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Hernia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hyperreflexia and Stomach cancer. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Hiatus hernia Seizures Muscular hypotonia of the trunk Vomiting Feeding difficulties Myoclonus Constipation Nystagmus Hypertonia Myopia Dystonia Microcephaly Babinski sign Pes cavus Irritability Apnea Feeding difficulties in infancy Lethargy

Rare Symptoms - Less than 30% cases

Motor delay Gait disturbance Abnormality of movement Urinary urgency Impaired vibratory sensation Leukodystrophy Astigmatism Spastic paraplegia Esotropia Sleep disturbance Exaggerated startle response Urinary incontinence Paraplegia Hyperactivity Hypokinesia Muscle stiffness Growth delay Dysphagia Edema Postnatal microcephaly Ptosis Involuntary movements Gliosis Chorea Choreoathetosis Rigidity Severe global developmental delay Poor appetite Diarrhea Absent speech Esophagitis Hypoplasia of the corpus callosum Respiratory failure Flexion contracture Hypoglycemia Encephalopathy Respiratory insufficiency Failure to thrive Fatigue Abnormality of the cerebral vasculature Organic aciduria Ketonuria Drowsiness Ketoacidosis Neoplasm Opisthotonus Nausea Coarse facial features Developmental regression Inability to walk Increased serum lactate Exotropia Increased CSF lactate Muscular hypotonia Areflexia Acidosis Stroke Metabolic acidosis Failure to thrive in infancy Coma Tetraplegia Brain atrophy Acute hepatic steatosis Aciduria Focal-onset seizure Intellectual disability, profound Hemiparesis Cerebral palsy Hyperammonemia Neutrophilia Abnormality of eye movement Episodic metabolic acidosis Specific learning disability Muscle weakness Cataract Peripheral neuropathy Dysarthria Skeletal muscle atrophy Abnormality of the skeletal system Clinodactyly Delayed skeletal maturation Lower limb muscle weakness Abnormal cerebellum morphology Lower limb spasticity Intermittent hypothermia Paraparesis Spastic paraparesis Abnormality of pelvic girdle bone morphology Generalized amyotrophy Progressive spasticity Short 5th finger Motor polyneuropathy Carpal bone hypoplasia Abnormal upper motor neuron morphology Shallow acetabular fossae Chorioretinal dystrophy Short stature Vitreomacular adhesion Acute hyperammonemia Drooling Abnormality of leucine metabolism Pain Cerebral atrophy Hyperhidrosis Syncope Hypotension Cyanosis Abnormality of the face Cardiac arrest Abnormal autonomic nervous system physiology Hyperkinesis Decreased CSF homovanillic acid Emotional lability Athetosis Agitation Orthostatic hypotension Limb dystonia Insomnia Limb hypertonia Hypothermia Miosis Nasal obstruction Temperature instability Kyphoscoliosis Loss of consciousness Visual loss Glabellar reflex Abnormality of the mediastinum Diffuse palmoplantar hyperkeratosis Esophageal neoplasm Esophageal carcinoma Abnormality of esophagus physiology Abnormal large intestine morphology Esophageal leukoplakia Meningitis Hearing impairment Plantar hyperkeratosis Sensorineural hearing impairment Clonus Hyperbilirubinemia Lower limb hyperreflexia Impaired proprioception Upper limb spasticity Neonatal hyperbilirubinemia Hyperreflexia in upper limbs Nocturia Clubbing of toes Esophageal stricture Urinary hesitancy Epidermal acanthosis Hyperkeratosis Weight loss Carcinoma Nausea and vomiting Palmoplantar keratoderma Postural instability Ascites Ectodermal dysplasia Gastrointestinal hemorrhage Thickened skin Palmoplantar hyperkeratosis Poor suck Oral-pharyngeal dysphagia Squamous cell carcinoma Parakeratosis Abnormality of the mouth Follicular hyperkeratosis Oral leukoplakia Hypergranulosis Kernicterus Abnormality of the rectum Tremor Gait ataxia Myotonia Hepatomegaly Atonic seizures Myokymia Nocturnal seizures Visual impairment Talipes equinovarus Cerebellar hypoplasia Arthrogryposis multiplex congenita Congenital hip dislocation Hypermetropia Abnormality of the foot Poor speech Hypertrichosis Cerebral visual impairment Hypoplasia of the brainstem Talipes valgus Strabismus Optic atrophy Joint dislocation Fasciculations Abnormality of the lower urinary tract Congenital encephalopathy Intellectual disability, severe EEG abnormality Polymicrogyria Progressive microcephaly Intellectual disability, progressive Poor eye contact Hypoventilation Central hypoventilation Abnormal muscle tone Ataxia Aspiration Fever Inguinal hernia Umbilical hernia Anxiety Joint stiffness Hip dislocation Falls Epileptic encephalopathy Frequent falls Dysfunction of lateral corticospinal tracts


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