Motor delay, and Diarrhea

Diseases related with Motor delay and Diarrhea

In the following list you will find some of the most common rare diseases related to Motor delay and Diarrhea that can help you solving undiagnosed cases.

Top matches:

Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive variant of familial long QT syndrome (see this term) characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and ventricular tachyarrhythmias.

JERVELL AND LANGE-NIELSEN SYNDROME Is also known as long qt interval-deafness syndrome

Related symptoms:

  • Seizures
  • Hearing impairment
  • Diarrhea
  • Sudden cardiac death
  • Syncope


SOURCES: OMIM ORPHANET MENDELIAN

More info about JERVELL AND LANGE-NIELSEN SYNDROME

A very rare disorder caused by mutation in the SCN11A gene. Affected individuals are unable to experience pain since birth resulting in self-inflicted injuries.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7 Is also known as hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction|cip with hyperhidrosis and gastrointestinal dysfunction|hsan with hyperhidrosis and gastrointestinal dysfunction|congenital insensitivity to pain with hyperhid

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Pain
  • Motor delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7

Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.

MONOAMINE OXIDASE A DEFICIENCY Is also known as brunner syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Cognitive impairment
  • Motor delay
  • Tremor


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MONOAMINE OXIDASE A DEFICIENCY

Other less relevant matches:

Some degree of stimulation of the thyroid gland by chorionic gonadotropin (see {118860}) is common during early pregnancy. When serum chorionic gonadotropin concentrations are abnormally high, e.g., in women with molar pregnancies (OMIM ), overt hyperthyroidism may ensue. The pathophysiologic mechanism appears to be promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin. The explanation for this stimulation is the close structural relations between chorionic gonadotropin and thyrotropin and between their receptors (Grossmann et al., 1997).

Related symptoms:

  • Motor delay
  • Tremor
  • Vomiting
  • Diarrhea
  • Hyperhidrosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL GESTATIONAL HYPERTHYROIDISM

Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.

FAMILIAL HYPERTHYROIDISM DUE TO MUTATIONS IN TSH RECEPTOR Is also known as hyperthyroidism, nonautoimmune, autosomal dominant|toxic thyroid hyperplasia, autosomal dominant|familial non-immune hyperthyroidism|resistance to thyroid stimulating hormone|hyperthyroidism, congenital nonautoimmune

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Delayed speech and language development
  • Motor delay
  • Diarrhea


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FAMILIAL HYPERTHYROIDISM DUE TO MUTATIONS IN TSH RECEPTOR

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.

METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa racemase deficiency|methylmalonyl-coa racemase deficiency|methylmalonic aciduria due to methylmalonyl-coa racemase deficiency|methylmalonic aciduria due to methylmalonyl-coa epimerase deficiency|mcee deficie

Related symptoms:

  • Failure to thrive
  • Spasticity
  • Motor delay
  • Macrocephaly
  • Hydrocephalus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CYCLIC VOMITING SYNDROME; CVS

Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure.

HYPERINSULINISM DUE TO SHORT CHAIN 3-HYDROXYLACYL-COA DEHYDROGENASE DEFICIENCY Is also known as hyperinsulinism due to glutamodehydrogenase deficiency|hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency|schad deficiency|hyperinsulinism due to schad deficiency

Related symptoms:

  • Failure to thrive
  • Motor delay
  • Peripheral neuropathy
  • Intrauterine growth retardation
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO SHORT CHAIN 3-HYDROXYLACYL-COA DEHYDROGENASE 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

CITRULLINEMIA, CLASSIC Is also known as ass deficiency|argininosuccinate synthetase deficiency|citrullinemia, type i|ctln1|citrullinuria

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CITRULLINEMIA, CLASSIC

Top 5 symptoms//phenotypes associated to Motor delay and Diarrhea

Symptoms // Phenotype % cases
Vomiting Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Lethargy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Motor delay and Diarrhea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hyperhidrosis Failure to thrive Behavioral abnormality Tremor Headache Sleep disturbance Agitation Abnormal autonomic nervous system physiology Dystonia Hyperactivity Seizures Pain

Rare Symptoms - Less than 30% cases

Fatigue Weight loss Hyperammonemia Proptosis Nausea and vomiting Hepatic steatosis Nausea Confusion Feeding difficulties in infancy Tachycardia Feeding difficulties Hypertonia Hearing impairment Insomnia Activating thyroid-stimulating hormone receptor defect Hand tremor Irritability Autoimmune antibody positivity Ataxia Graves disease Aciduria Thyroid hyperplasia Gastroesophageal reflux Vitreomacular adhesion Thyrotoxicosis with diffuse goiter Spasticity Tachypnea Hyperthyroidism Goiter Constipation Cardiac arrest Prolonged QT interval Muscle weakness Peripheral neuropathy Attention deficit hyperactivity disorder Syncope Autism Encephalopathy Cognitive impairment Cerebral atrophy Oroticaciduria Babinski sign Myoclonus Hypoglycemia Mania Delayed menarche Muscular hypotonia of the trunk Hypoplasia of the corpus callosum Hepatic encephalopathy Abnormality of eye movement Chorea Hypotension Cerebral edema Respiratory alkalosis Cirrhosis Hyperreflexia Protein avoidance Prolonged prothrombin time Hypoglycemic seizures Dicarboxylic aciduria Hyperglutaminemia Fasting hyperinsulinemia Hepatic necrosis Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Hypoargininemia Hypoglycemic encephalopathy Increased circulating free fatty acid level Abnormality of acetylcarnitine metabolism Increased C-peptide level Ptosis Choreoathetosis Cyanosis Drooling Abnormality of the face Hallucinations Slurred speech Increased intracranial pressure Cerebral palsy Hypoketotic hypoglycemia Decreased CSF homovanillic acid Clonus Psychosis Temperature instability Coma Intermittent hypothermia Hepatomegaly Respiratory distress Edema Visual loss Abnormality of the coagulation cascade Loss of consciousness Leukodystrophy Echolalia Muscle stiffness Stroke Enuresis Hyperkinesis Emotional lability Athetosis Hypokinesia Nasal obstruction Orthostatic hypotension Limb dystonia Delusions Ankle clonus Limb hypertonia Hypothermia Miosis Decreased plasma carnitine Myopathy Hyperinsulinemic hypoglycemia Flushing Intellectual disability, mild Depressivity Aggressive behavior Palpitations Self-injurious behavior Impulsivity Kinetic tremor Chronic constipation Low frustration tolerance Violent behavior Spontaneous abortion Hyperemesis gravidarum Delayed speech and language development Abnormality of metabolism/homeostasis Small for gestational age Pain insensitivity Axonal loss Accelerated skeletal maturation Congenital sensorineural hearing impairment Sudden cardiac death Bilateral sensorineural hearing impairment Ventricular tachycardia Abnormal intestine morphology Delayed gross motor development Ventricular arrhythmia Ventricular fibrillation Joint dislocation Vestibular dysfunction Iron deficiency anemia Epileptic spasms T-wave inversion Torsade de pointes T-wave alternans Pruritus Premature birth Abnormal eye morphology Acute hepatic failure Neonatal hypotonia Anorexia Exercise intolerance Abnormality of mitochondrial metabolism Gastrointestinal dysmotility Intrauterine growth retardation Elevated hepatic transaminase Hypertrophic cardiomyopathy Vertigo Dilated cardiomyopathy Lactic acidosis Pigmentary retinopathy Mildly elevated creatine phosphokinase Proportionate short stature Myoglobinuria Neonatal hypoglycemia Migraine Pallor Eyelid retraction Methylmalonic aciduria Pretibial myxedema Macrocephaly Hydrocephalus Acidosis Metabolic acidosis Dehydration Ketonuria Methylmalonic acidemia Photophobia Microcephaly Growth delay Strabismus Muscular hypotonia Fever Cardiomyopathy Abdominal pain Episodic ammonia intoxication


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