Failure to thrive, and Generalized seizures

Diseases related with Failure to thrive and Generalized seizures

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


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49; MRT49

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49; MRT49 Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS MONDO OMIM ORPHANET

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49; MRT49

Medium match IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH

IMDDHH is a multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. Additional features, such as congenital heart defects and liver involvement, are more variable (summary by Huppke et al., 2017).

Related symptoms:

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


SOURCES: OMIM

More info about IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH

Medium match STRIATONIGRAL DEGENERATION, INFANTILE; SNDI

Bilateral striatal necrosis (BSN) encompasses a heterogeneous group of neurologic disorders with different causation. Familial infantile striatal degeneration is rare and can be inherited as an autosomal recessive or mitochondrial (see {500003}) disorder. The familial form has an insidious onset and a slowly progressive course; the sporadic form is associated with acute systemic illness. Many features of BSN overlap with Leigh syndrome (OMIM ) and certain metabolic disorders, including glutaric acidemia I (OMIM ) and methylmalonic aciduria (OMIM ). See also Aicardi-Goutieres syndrome (OMIM ) (Mito et al., 1986; De Meirleir et al., 1995). Genetic Heterogeneity of Stiatonigral DegenerationChildhood-onset striatonigral degeneration (OMIM ) is caused by mutation in the VAC14 gene (OMIM ) on chromosome 16q22.See also adult-onset autosomal dominant striatal degeneration (ADSD ), caused by mutation in the PDE8B gene (OMIM ) on chromosome 5q13.

STRIATONIGRAL DEGENERATION, INFANTILE; SNDI Is also known as infantile bilateral striatal necrosis;ibsn, bilateral striatal necrosis, infantile, striatal degeneration, familial

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET

More info about STRIATONIGRAL DEGENERATION, INFANTILE; SNDI

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Other less relevant matches:

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51; EIEE51

Early infantile epileptic encephalopathy-51 is an autosomal recessive severe neurodevelopmental disorder characterized by onset of intractable seizures and hypotonia in the first days or weeks of life. Affected individuals have severely delayed psychomotor development and may show abnormal movements. Brain imaging shows nonspecific abnormalities, such as cerebral atrophy, cerebellar atrophy, and delayed myelination. Laboratory studies showed increased lactate, suggesting mitochondrial dysfunction (summary by Ait-El-Mkadem et al., 2017).For a discussion of genetic heterogeneity of EIEE, see {308350}.

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Strabismus


SOURCES: MONDO OMIM UMLS

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51; EIEE51

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44; EIEE44

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: OMIM UMLS MONDO

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44; EIEE44

Medium match CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO

Carbamoyl phosphate synthetase I deficiency is an autosomal recessive inborn error of metabolism of the urea cycle which causes hyperammonemia. There are 2 main forms: a lethal neonatal type and a less severe, delayed-onset type (summary by Klaus et al., 2009).Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: ornithine transcarbamylase deficiency (OMIM ), carbamyl phosphate synthetase deficiency, argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency (OMIM ).

CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO Is also known as carbamoyl phosphate synthetase i deficiency, cps i deficiency;cps1 deficiency; cps1d; carbamoyl-phosphate synthetase i deficiency; carbamoyl-phosphate synthetase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia


SOURCES: DOID MESH EFO SCTID UMLS OMIM NCIT ORPHANET MONDO GARD

More info about CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27; COXPD27

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27; COXPD27 Is also known as ;coxpd27

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: EFO MONDO UMLS OMIM ORPHANET

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27; COXPD27

Medium match EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME; EHLMRS

Epilepsy, hearing loss, and mental retardation syndrome is an autosomal recessive disorder characterized by severe neurologic impairment including intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss. Most affected individuals are nonambulatory, cannot sit unassisted, and have no speech development. More variable features include feeding difficulties, poor growth, cortical visual impairment, spasticity, scoliosis, immunodeficiency, and thrombocytopenia (summary by Tanaka et al., 2015).

EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME; EHLMRS Is also known as ;microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS OMIM ORPHANET MONDO

More info about EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME; EHLMRS

Medium match COMBINED MALONIC AND METHYLMALONIC ACIDURIA; CMAMMA

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 ACIDURIA; CMAMMA Is also known as ;cmamma; combined malonic and methylmalonic aciduria

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM SCTID MONDO UMLS GARD MESH

More info about COMBINED MALONIC AND METHYLMALONIC ACIDURIA; CMAMMA

Medium match PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY; PNPOD

PNPOD is an autosomal recessive inborn error of metabolism resulting in vitamin B6 deficiency that manifests as neonatal-onset severe seizures and subsequent encephalopathy. Patients with PNPO mutations tend to respond better to treatment with pyridoxal 5-prime phosphate (PLP) than with pyridoxine (summary by Plecko et al., 2014).

PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY; PNPOD Is also known as pnpo deficiency, seizures, pyridoxine-resistant, plp-sensitive, epileptic encephalopathy, neonatal, pnpo-related;pnpo deficiency; pnpo-related neonatal epileptic encephalopathy; pyridoxal phosphate-dependent seizures; pyridoxamine 5'-oxidase deficiency; pyridoxamine 5'-phosphate oxidase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Anemia


SOURCES: MESH OMIM MONDO UMLS SCTID GARD ORPHANET

More info about PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY; PNPOD

Top 5 symptoms//phenotypes associated to Failure to thrive and Generalized seizures

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Autosomal recessive inheritance Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Failure to thrive and Generalized seizures. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Absent speech Dystonia Hypoplasia of the corpus callosum Feeding difficulties Hypertonia Cerebellar atrophy Postnatal microcephaly Muscular hypotonia of the trunk Encephalopathy Microcephaly Spasticity Epileptic encephalopathy Clonus Myoclonus Vomiting Increased serum lactate Generalized myoclonic seizures Cerebral cortical atrophy

Rare Symptoms - Less than 30% cases


Acidosis Nystagmus Irritability Thrombocytopenia Delayed speech and language development Cerebral atrophy Athetosis Intellectual disability, severe Status epilepticus Ataxia Opisthotonus Hypoglycemia Neurodegeneration Mental deterioration Absence seizures Hearing impairment Immunodeficiency Coma Strabismus Delayed myelination Short stature Hepatic steatosis CNS hypomyelination Microvesicular hepatic steatosis Abnormality of eye movement Scoliosis Sensorineural hearing impairment Brain atrophy Decreased activity of mitochondrial respiratory chain Severe muscular hypotonia Tetraparesis Chorea Cough Abnormality of movement Areflexia Tics Low plasma citrulline Episodic ammonia intoxication Protein avoidance Hypoargininemia Respiratory alkalosis Decerebrate rigidity Visual impairment Progressive EEG abnormality Progressive microcephaly Feeding difficulties in infancy Autistic behavior Unsteady gait Metabolic acidosis Premature birth Hemiparesis Leukopenia Nevus Abnormality of the coagulation cascade Excessive salivation Moderate global developmental delay Fetal distress Hemiclonic seizures Decreased CSF homovanillic acid Autism Anemia Cortical visual impairment Apnea Limb hypertonia Congenital microcephaly Diarrhea Pneumonia Diabetes insipidus Elevated hepatic transaminase Aciduria Generalized clonic seizures Memory impairment Dehydration Tachypnea Ketoacidosis Ethylmalonic aciduria Methylmalonic aciduria Methylmalonic acidemia Cerebral edema Progressive encephalopathy Focal seizures with impairment of consciousness or awareness Recurrent skin infections Choreoathetosis Neuronal loss in central nervous system Gliosis Nausea and vomiting Developmental regression Abnormality of the eye Dysarthria Hyperreflexia Dysphagia Optic atrophy Milia IgA deficiency Cellulitis Bicuspid aortic valve Involuntary movements Hoarse voice Decreased antibody level in blood Abnormality of the cerebral white matter Recurrent infections Atrial septal defect Cardiomyopathy Tremor Myopathy Growth delay Pica Progressive spasticity Drooling Generalized tonic-clonic seizures Nausea Pendular nystagmus Hyperammonemia Mask-like facies Aminoaciduria Confusion Focal seizures Stroke Lethargy Abdominal pain Respiratory insufficiency Pain Muscle weakness Muscular hypotonia Narrow forehead Poor eye contact Mania Hypsarrhythmia Developmental stagnation Gastroesophageal reflux Arrhythmia Increased CSF lactate Corpus callosum atrophy Supernumerary nipple Poor head control Inability to walk Abnormal pyramidal sign Constipation Rod-cone dystrophy Babinski sign Hyporeflexia Skeletal muscle atrophy Abnormality of the basal ganglia Focal myoclonic seizures



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