Generalized hypotonia, and Diarrhea

Diseases related with Generalized hypotonia and Diarrhea

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

Top matches:

Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY 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

Medium match MALONIC ACIDURIA

Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).

MALONIC ACIDURIA Is also known as malonyl-coa decarboxylase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MALONIC ACIDURIA

Other less relevant matches:

Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.

PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY Is also known as porphyria due to alad deficiency|doss porphyria|delta-aminolevulinate dehydratase deficiency|alad porphyria|porphyria, alad|porphyria of doss|alad deficiency|porphyria due to delta-aminolevulinate dehydratase deficiency|porphobilinogen synthase deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY

GLYCOGEN STORAGE DISEASE IXB; GSD9B Is also known as gsd ixb|glycogenosis of liver and muscle, autosomal recessive|phosphorylase kinase deficiency of liver and muscle, autosomal recessive

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IXB; GSD9B

Medium match MEDNIK SYNDROME

MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).

MEDNIK SYNDROME Is also known as intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome|ekv3|erythrokeratodermia variabilis, kamouraska type|erythrokeratodermia variabilis 3

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MEDNIK SYNDROME

Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.

FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY Is also known as adane|recurrent acute necrotizing encephalopathy|ane|encephalopathy, acute necrotizing, susceptibility to

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY

Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.

COMBINED MALONIC AND METHYLMALONIC ACIDEMIA Is also known as combined malonic and methylmalonic aciduria|cmamma

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COMBINED MALONIC AND METHYLMALONIC ACIDEMIA

Medium match MPI-CDG

MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).

MPI-CDG Is also known as cdg-ib|cdg, gastrointestinal type|congenital disorder of glycosylation type ib|carbohydrate deficient glycoprotein syndrome type ib|saguenay-lac saint-jean syndrome|mpi deficiency|slsj syndrome|phosphomannose isomerase deficiency|cdg ib|cdgib|protein-losi

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Anemia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MPI-CDG

Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.

OVERHYDRATED HEREDITARY STOMATOCYTOSIS Is also known as ohs|potassium-sodium disorder of erythrocyte

Related symptoms:

  • Generalized hypotonia
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OVERHYDRATED HEREDITARY STOMATOCYTOSIS

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Diarrhea

Symptoms // Phenotype % cases
Failure to thrive Common - Between 50% and 80% cases
Vomiting Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Diarrhea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Hypoglycemia Coma Short stature Abdominal pain Anemia Constipation Peripheral neuropathy Hepatomegaly Muscular hypotonia Cirrhosis

Rare Symptoms - Less than 30% cases

Hepatic steatosis Rigidity Edema Pneumonia Polyneuropathy Dehydration Apnea Ketosis Lactic acidosis Pallor Acidosis Hepatic fibrosis Abnormal intestine morphology Cough Hemolytic anemia Fever Chronic constipation Microcephaly Dystonia Feeding difficulties Muscle weakness Muscular hypotonia of the trunk Necrotizing encephalopathy Polyneuritis Acute necrotizing encephalopathy Elevated hepatic transaminase Aciduria Mental deterioration Spherocytosis Acute encephalopathy Memory impairment Anisocytosis Tachypnea Ketoacidosis Abnormal muscle tone Cerebral edema Abducens palsy Intermittent jaundice Increased red cell osmotic fragility Congenital hemolytic anemia Sideroblastic anemia Tetraplegia Gliosis Spastic tetraplegia Stomatocytosis Abnormal posturing Hallucinations Foot dorsiflexor weakness Poikilocytosis Encephalitis Severe vision loss Increased CSF protein Methylmalonic aciduria Reticulocytosis Hepatosplenomegaly Methylmalonic acidemia Secretory diarrhea Enterocolitis Abnormality of mitochondrial metabolism Type I transferrin isoform profile Brittle hair Microvesicular hepatic steatosis Intestinal lymphangiectasia Reduced antithrombin III activity Protein-losing enteropathy Reduced factor XI activity Lymphangiectasis Splenomegaly Hyperbilirubinemia Jaundice Hydrops fetalis Nephropathy Abnormal thrombosis Congenital hepatic fibrosis Generalized clonic seizures Gastrointestinal hemorrhage Respiratory tract infection Abnormality of the liver Malabsorption Hepatic failure Pulmonary fibrosis Abnormal bleeding Chronic diarrhea Generalized edema Lymphedema Hypoalbuminemia Abnormality of the coagulation cascade Hyperinsulinemic hypoglycemia Hypoproteinemia Villous atrophy Encephalopathy Increased antibody level in blood Erythema Hypertonia Respiratory insufficiency Pachygyria Heterotopia Recurrent urinary tract infections Hyperammonemia Poor appetite Episodic vomiting Hypertension Behavioral abnormality Metabolic acidosis Paresthesia Tachycardia Sensory neuropathy Psychosis Hemiparesis Hyponatremia Motor axonal neuropathy Febrile seizures Hypertrophic cardiomyopathy Wrist drop Hypermetropia Strabismus Cleft palate Cryptorchidism Atrial septal defect Abnormality of the dentition Patent ductus arteriosus Autistic behavior Thin vermilion border Cardiomyopathy Coarctation of aorta Motor delay Hyperhidrosis Pruritus Abnormal autonomic nervous system physiology Joint dislocation Axonal loss Pain insensitivity Respiratory paralysis Abdominal colic Gait disturbance Ichthyosis Hearing impairment Growth delay Sensorineural hearing impairment Cataract Upslanted palpebral fissure Hyperkeratosis High forehead Cholestasis Increased hepatic glycogen content Erythroderma Congenital sensorineural hearing impairment Intrahepatic cholestasis Hypocupremia Decreased serum ceruloplasmin Ataxia Spasticity Visual impairment Increased muscle glycogen content Exercise-induced myalgia Elevated urinary delta-aminolevulinic acid Nausea Skeletal muscle atrophy Fatigue Headache Myalgia Irritability Scarring Nausea and vomiting Muscle cramps Recurrent hypoglycemia Abdominal distention Hypertriglyceridemia Progressive muscle weakness Decreased liver function Muscle stiffness Exercise intolerance Hypercholesterolemia Myoglobinuria Increased intracellular sodium


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