Failure to thrive, and Tetraplegia

Diseases related with Failure to thrive and Tetraplegia

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

Top matches:

Multiple mitochondrial dysfunctions syndrome-6 is an autosomal recessive severe neurodegenerative disorder with onset in early childhood. Affected individuals may have initial normal development, but show neurologic regression in the first year of life. They have hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity. Some patients may die in childhood. Laboratory evidence indicates that the disorder results from mitochondrial dysfunction (summary by Vogtle et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6

Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE MOTOR AND INTELLECTUAL DISABILITIES-SENSORINEURAL DEAFNESS-DYSTONIA SYNDROME

D-glyceric aciduria is a metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21.

D-GLYCERIC ACIDURIA Is also known as d-glyceric acidemia|d-glycerate kinase deficiency|glycerate kinase deficiency

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about D-GLYCERIC ACIDURIA

Other less relevant matches:

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

DECR deficiency is a rare autosomal recessive inborn error of metabolism resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic dysfunction beginning in early infancy. Laboratory studies show decreased activity of the mitochondrial NADP(H)-dependent enzymes DECR1 (OMIM ) and AASS (OMIM ), resulting in increased C10:2-carnitine levels and hyperlysinemia (summary by Houten et al., 2014).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 2,4-DIENOYL-COA REDUCTASE DEFICIENCY; DECRD

Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG ) and TNF-alpha (OMIM ), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by Dufourcq-Lagelouse et al., 1999, Stepp et al., 1999, and Molleran Lee et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of FHL, see {267700}.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2 Is also known as hplh2|hlh2

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2

Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Is also known as pnp deficiency|pnpase deficiency|nucleoside phosphorylase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

NDHMSD is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by Lemke et al., 2016).

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD Is also known as mrd8, formerly|mental retardation, autosomal dominant 8, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD

HSD10 mitochondrial disease most commonly presents as an X-linked neurodegenerative disorder with highly variable severity and age at onset ranging from the neonatal period to early childhood. The features are usually multisystemic, consistent with mitochondrial dysfunction. Some affected males have a severe infantile form associated with cardiomyopathy that may result in death in early childhood, whereas other rare patients may have juvenile onset or even atypical presentations with normal neurologic development. More severely affected males show developmental regression in infancy or early childhood, often associated with early-onset intractable seizures, progressive choreoathetosis and spastic tetraplegia, optic atrophy or retinal degeneration resulting in visual loss, and mental retardation. Heterozygous females may show non-progressive developmental delay and intellectual disability, but may also be clinically normal. Although the diagnosis can be aided by the observation of increased urinary levels of metabolites of isoleucine breakdown (2-methyl-3 hydroxybutyrate and tiglylglycine), there is not a correlation between these laboratory features and the phenotype. In addition, patients do not develop severe metabolic crises in the neonatal period as observed in other organic acidurias, but may show persistent lactic acidosis, most likely reflecting mitochondrial dysfunction (summary by Rauschenberger et al., 2010; review by Zschocke, 2012).In a review of the disorder, Zschocke (2012) noted that although this disorder was originally thought to be an inborn error of branched-chain fatty acid and isoleucine metabolism resulting from decreased HSD17B10 dehydrogenase activity (HSD17B10 'deficiency'), subsequent studies have shown that the HSD17B10 gene product has additional functions and also acts as a component of the mitochondrial RNase P holoenzyme, which is involved in mitochondrial tRNA processing and maturation and ultimately mitochondrial protein synthesis. The multisystemic features of HSD10MD most likely result from the adverse effect of HSD17B10 mutations on mitochondrial function, rather than from the effects on the dehydrogenase activity (see PATHOGENESIS below).

HSD10 MITOCHONDRIAL DISEASE; HSD10MD Is also known as hsd17b10 deficiency|mhbd deficiency|2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency|camr|mental retardation with chorioathetosis and abnormal behavior|mental retardation, x-linked, syndromic 10|17-beta-hydroxysteroid dehydrogenase x deficiency|chor

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HSD10 MITOCHONDRIAL DISEASE; HSD10MD

Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Is also known as pyrimidinemia, familial|familial pyrimidinemia|dpyd deficiency|dpd deficiency|thymine-uraciluria, hereditary

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Failure to thrive and Tetraplegia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Spastic tetraplegia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Encephalopathy

Uncommon Symptoms - Between 30% and 50% cases

Cerebral atrophy

Common Symptoms - More than 50% cases

Spasticity

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Delayed speech and language development Dystonia Muscular hypotonia Optic atrophy Acidosis Hypertonia Ataxia Cerebral cortical atrophy Cerebellar atrophy Abnormal pyramidal sign Pneumonia Blindness Ventriculomegaly Nystagmus Growth delay Hyperreflexia Myoclonus Hypoglycemia Autistic behavior Metabolic acidosis Aciduria Abnormality of movement Hyperactivity Aggressive behavior Intellectual disability, severe Hearing impairment Absent speech Feeding difficulties Tetraparesis Abnormality of mitochondrial metabolism Spastic tetraparesis Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases

Cerebral visual impairment Involuntary movements Vomiting Diarrhea Apnea Irritability Lethargy Aspiration pneumonia Fever Coma Diffuse cerebral atrophy Febrile seizures Leukodystrophy Choreoathetosis Chorea Autism Gait ataxia Hepatomegaly Tremor Motor delay Leukopenia Thrombocytopenia Global brain atrophy Aspiration Edema Splenomegaly Abnormality of eye movement Hypsarrhythmia Brain atrophy Abnormal facial shape Strabismus Developmental regression Inability to walk Elevated hepatic transaminase Visual loss Neonatal hypotonia Opisthotonus Epileptic encephalopathy Impaired T cell function Generalized-onset seizure Abnormality of the eye Joint hypermobility Thick eyebrow Dyskinesia Poor speech Autoimmune hemolytic anemia Hypotelorism Deeply set eye Spastic diplegia Recurrent upper respiratory tract infections Status epilepticus Progressive microcephaly Focal impaired awareness seizure Self-injurious behavior Disproportionate tall stature Intellectual disability, moderate Dysmetria EEG abnormality Lymph node hypoplasia Pure red cell aplasia Autoimmune neutropenia Abnormal T cell morphology Recurrent opportunistic infections Cerebral vasculitis Recurrent viral infections Brain abscess Abnormality of B cell physiology Hypouricemia Scoliosis Recurrent lower respiratory tract infections Pain High palate Visual impairment Hypoplasia of the corpus callosum Constipation Autoimmune thrombocytopenia Infantile spasms Hyperglycinemia Atonic seizures Alopecia Mitochondrial myopathy Gastrointestinal dysmotility Loss of ability to walk Abnormal mitochondrial morphology Persistent lactic acidosis Progressive choreoathetosis Neoplasm Microphthalmia Agenesis of corpus callosum Agitation Weight loss Coloboma Iris coloboma Delayed gross motor development Breast carcinoma Hypoventilation Stomatitis Recurrent aspiration pneumonia Reduced dihydropyrimidine dehydrogenase activity Restlessness Athetosis Bruxism Intellectual disability, mild Recurrent bacterial infections Profound global developmental delay Oculogyric crisis Inappropriate crying Cognitive impairment Dysarthria Dysphagia Cardiomyopathy Myopathy Rigidity Drooling Hypertrophic cardiomyopathy Neurological speech impairment Retinal degeneration Lactic acidosis Neurodegeneration Dehydration Progressive neurologic deterioration Hallucinations Horizontal nystagmus Increased serum lactate Lymphoma Lymphopenia Acute hepatic steatosis Failure to thrive in infancy Poor appetite Drowsiness Ketoacidosis Ketonuria Abnormality of the cerebral vasculature Organic aciduria Neutrophilia Episodic metabolic acidosis Cerebral palsy Acute hyperammonemia Abnormality of leucine metabolism Respiratory distress Cerebral white matter atrophy Cerebral hypomyelination Corpus callosum atrophy Episodic fever CNS hypomyelination Hyperammonemia Muscular hypotonia of the trunk Pancreatitis Neonatal respiratory distress Nonketotic hyperglycinemia Severe failure to thrive Respiratory insufficiency Epileptic spasms Poor eye contact Areflexia Respiratory failure Gastroesophageal reflux Feeding difficulties in infancy Hemiparesis Optic nerve hypoplasia Stroke Severe global developmental delay Aminoaciduria Nausea Delayed myelination Gliosis Focal-onset seizure Intellectual disability, profound Clonus Renal tubular acidosis Sinusitis Increased total bilirubin Increased CSF protein Increased serum ferritin Papilledema Hypoproteinemia Generalized edema Immune dysregulation Prolonged prothrombin time Hemophagocytosis Hypofibrinogenemia Hyponatremia CSF pleocytosis Postnatal microcephaly Optic disc pallor Behavioral abnormality Immunodeficiency Babinski sign Glutaric aciduria Otitis media Recurrent urinary tract infections Abnormality of coagulation Hemiplegia Central hypotonia Jaundice Central apnea Hyperlysinemia Respiratory acidosis Decreased plasma free carnitine Anemia Intrauterine growth retardation Headache Poor head control Hepatosplenomegaly Hypoalbuminemia Lymphadenopathy Pancytopenia Hypertriglyceridemia Diplopia Decreased liver function Meningitis Leukoencephalopathy Increased intracranial pressure Encephalitis Uraciluria


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