Anemia, and Tetraparesis

Diseases related with Anemia and Tetraparesis

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


Top matches:

Medium match PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1


Erythropoietic protoporphyria-1 is an inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase, the terminal enzyme of the heme biosynthetic pathway, which catalyzes the insertion of iron into protoporphyrin to form heme. EPP is characterized clinically by photosensitivity to visible light commencing in childhood, and biochemically by elevated red cell protoporphyrin levels (Todd, 1994). Genetic Heterogeneity of Erythropoietic ProtoporphyriaAlso see X-linked erythropoietic protoporphyria (XLEPP ), caused by mutation in the ALAS2 gene (OMIM ) on chromosome Xp11, and EPP2 (OMIM ), caused by mutation in the CLPX gene (OMIM ) on chromosome 15q22.

PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1 Is also known as ferrochelatase deficiency|protoporphyria, erythropoietic|heme synthetase deficiency|erythrohepatic protoporphyria|epp

Related symptoms:

  • Pain
  • Anemia
  • Edema
  • Thrombocytopenia
  • Jaundice


SOURCES: OMIM MENDELIAN

More info about PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1

Medium match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8


Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by Dallabona et al., 2016).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8

Medium match HYPERLYSINEMIA


Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.

HYPERLYSINEMIA Is also known as hyperlysinemia type i|lysine alpha-ketoglutarate reductase deficiency|lysine:alpha-ketoglutarate reductase deficiency|l-lysine:nad-oxido-reductase deficiency|alpha-aminoadipic semialdehyde synthase deficiency|lysine intolerance

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERLYSINEMIA

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Other less relevant matches:

Medium match GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA


Glutathione synthetase deficiency, or 5-oxoprolinuria, is an autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline (Larsson and Anderson, 2001).

GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA Is also known as 5-oxoprolinuria|pyroglutamic aciduria

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA

Medium match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY


Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Medium match PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY


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

Medium match FAMILIAL PORENCEPHALY


Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

FAMILIAL PORENCEPHALY Is also known as t1p|porencephaly, type 1, autosomal dominant|adt1p|hemiplegia, infantile, with porencephaly porencephaly, type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PORENCEPHALY

Medium match PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY


Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.

PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY Is also known as diaphorase deficiency|2-oxoglutarate complex deficiency|pyruvate dehydrogenase protein x component deficiency|dihydrolipoyl dehydrogenase deficiency|branched chain alpha-ketoacid dehydrogenase complex deficiency|pyruvate dehydrogenase complex component e3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

Medium match METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY


Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on chromosome 4q31, and cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).See the comprehensive review of Ledley (1990).

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency|methylmalonic aciduria, mut type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY

Medium match CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME


Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

Top 5 symptoms//phenotypes associated to Anemia and Tetraparesis

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

Patients with Anemia and Tetraparesis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Spasticity Hypertonia Hemolytic anemia Dystonia Acidosis Vomiting Delayed speech and language development Dysarthria Splenomegaly Muscular hypotonia Metabolic acidosis Thrombocytopenia Jaundice Progressive neurologic deterioration Ventriculomegaly Coma Aciduria High palate Fatigue Respiratory distress Renal insufficiency

Rare Symptoms - Less than 30% cases


Chronic metabolic acidosis Recurrent bacterial infections Tremor Stroke Ischemic stroke Behavioral abnormality Polymicrogyria Cognitive impairment Cardiomyopathy Respiratory insufficiency Cerebellar hypoplasia Optic atrophy Abnormal pyramidal sign Babinski sign Immunodeficiency Muscular hypotonia of the trunk Hemiplegia Purpura Spastic tetraplegia Hypertelorism Tetraplegia Spastic diplegia Muscle cramps Microcephaly Hepatosplenomegaly Cataract Hepatomegaly Fever Dilatation Pain Falls Hypoplasia of the corpus callosum Hyperreflexia Decreased liver function Encephalopathy Lactic acidosis Increased serum lactate Lethargy Abnormality of the liver Nystagmus Exotropia Leukoencephalopathy Cerebral atrophy Sloping forehead Intellectual disability, profound Pectus excavatum Status epilepticus Cerebral calcification Neuronal loss in central nervous system Epicanthus Pachygyria Abnormal facial shape Agenesis of corpus callosum Postnatal microcephaly Thin upper lip vermilion Neonatal hypotonia Abnormality of movement Severe global developmental delay Spastic paraplegia Abnormality of eye movement Unsteady gait Broad-based gait Trigonocephaly Partial agenesis of the corpus callosum Gliosis Spastic hemiparesis Cerebral visual impairment Opacification of the corneal stroma Cerebral hemorrhage Dysphasia Cortical dysplasia Opisthotonus Increased CSF protein Petechiae Visual field defect Lissencephaly Limb dystonia Restlessness Microretrognathia Posterior embryotoxon Antenatal intracerebral hemorrhage Hypoplasia of the iris Transient ischemic attack Facial paralysis Nuclear cataract Stroke-like episode Porencephalic cyst Primitive reflex Hemianopia Pontocerebellar atrophy Schizencephaly Perivascular spaces Lipoma Difficulty running Poor fine motor coordination Poor coordination Homocystinuria Cerebral cortical atrophy Microphthalmia Leukopenia Hyperammonemia Macrocytic anemia Tubulointerstitial nephritis Ketonuria Delayed CNS myelination Organic aciduria Methylmalonic aciduria Hyperglycinemia Paraparesis Methylmalonic acidemia Long philtrum Tubulointerstitial abnormality Abnormal globus pallidus morphology Cerebellar hemorrhage Metabolic ketoacidosis Growth delay Intellectual disability, severe Anteverted nares Visual impairment Low-set ears Pancreatitis Choreoathetosis Congenital cataract Poor gross motor coordination Generalized tonic-clonic seizures Corpus callosum atrophy Severe lactic acidosis Micrognathia Increased serum pyruvate Hyperalaninemia Decreased activity of the pyruvate dehydrogenase complex Periventricular cysts Subependymal cysts Corneal opacity Projectile vomiting Skin rash Micropenis Diabetes mellitus Abnormality of the kidney Neurological speech impairment Hypertrophic cardiomyopathy Nausea and vomiting Stage 5 chronic kidney disease Nephropathy Elevated hepatic transaminase Postural instability Dehydration Pancytopenia Intracranial hemorrhage Recurrent upper respiratory tract infections Drooling Episodic vomiting Brisk reflexes Abnormality of the periventricular white matter Intellectual disability, mild Hyperactivity Rigidity Abnormality of the nervous system Poor speech Abnormality of the genitourinary system Optic nerve hypoplasia Ectopia lentis Short attention span Normochromic anemia Failure to thrive in infancy Cystinuria Hyperlysinuria Asthenia Oroticaciduria Hyperlysinemia Recurrent infections Nausea Neutropenia Sepsis Pigmentary retinopathy Intention tremor Renal tubular acidosis Stridor External ophthalmoplegia Compensated hemolytic anemia Inflammatory abnormality of the skin Edema Erythema Scarring Pruritus Paresthesia Hepatic failure Polyneuropathy Abnormal blistering of the skin Eczema Cutaneous photosensitivity Hypertriglyceridemia Cholestasis Optic disc pallor Cholelithiasis Microcytic anemia Acute hepatic failure Cholecystitis Muscle weakness Gait disturbance Respiratory failure Dyspnea Developmental regression Irritability Ophthalmoplegia Neurodegeneration Increased reactive oxygen species production Glutathione synthetase deficiency Cerebral palsy Abnormal T cell morphology Recurrent urinary tract infections Sinusitis Lymphopenia Autoimmune hemolytic anemia Autoimmune thrombocytopenia Recurrent lower respiratory tract infections Recurrent viral infections Impaired T cell function Hypouricemia Pure red cell aplasia Autoimmune neutropenia Recurrent opportunistic infections Lymphoma Cerebral vasculitis Brain abscess Lymph node hypoplasia Abnormality of B cell physiology Strabismus Hydrocephalus Cerebellar atrophy Elevated serum creatine phosphokinase Hematuria Renal cyst Mitral valve prolapse Hemiparesis Otitis media Pneumonia Psychotic mentation Exercise intolerance Increased level of L-pyroglutamic acid in urine Short stature Brachydactyly Myopathy Visual loss Rod-cone dystrophy Myalgia Mental deterioration Paralysis Muscular dystrophy Retinal dystrophy Migraine Hyperbilirubinemia Motor delay Emotional lability Aphasia Rhabdomyolysis Acute kidney injury Reticulocytosis Progressive encephalopathy Myoglobinuria Decreased mean corpuscular volume Increased muscle fatiguability Recurrent myoglobinuria Exercise-induced muscle cramps Exercise-induced myoglobinuria Congenital microcephaly



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Decreased antibody level in blood, related diseases and genetic alterations Fever and Urinary incontinence, related diseases and genetic alterations Brachydactyly and Situs inversus totalis, related diseases and genetic alterations Spasticity and Sinusitis, related diseases and genetic alterations Muscle weakness and Ventriculomegaly, related diseases and genetic alterations

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