Anemia, and Spastic tetraplegia

Diseases related with Anemia and Spastic tetraplegia

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


Top matches:

Medium match 3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, INFANTILE/JUVENILE FORM


3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form

3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, INFANTILE/JUVENILE FORM Is also known as phgdh deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, INFANTILE/JUVENILE FORM

Medium match MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16


Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16

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

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Other less relevant matches:

Medium match MUCOLIPIDOSIS IV; ML4


Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. The lysosomal hydrolases in ML IV are normal, in contrast to most other storage diseases. The disorder results from a defect in transport along the lysosomal pathway, affecting membrane sorting and/or late steps of endocytosis, which causes intracellular accumulation of lysosomal substrates. Over 80% of the patients in whom the diagnosis of ML IV has been made are Ashkenazi Jews, including severely affected and mildly affected patients (Chen et al., 1998).

MUCOLIPIDOSIS IV; ML4 Is also known as ml iv|sialolipidosis

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOLIPIDOSIS IV; ML4

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 NIEMANN-PICK DISEASE, TYPE C1; NPC1


Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.

NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1

Medium match SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI


Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

Medium match ISOLATED CYTOCHROME C OXIDASE DEFICIENCY


Complex IV (cytochrome c oxidase; {EC 1.9.3.1}) is the terminal enzyme of the respiratory chain and consists of 13 polypeptide subunits, 3 of which are encoded by mitochondrial DNA. The 3 mitochondrially encoded proteins in the cytochrome oxidase complex are the actual catalytic subunits that carry out the electron transport function (Saraste, 1983). See {123995} for discussion of some of the nuclear-encoded subunits.Shoubridge (2001) provided a comprehensive review of cytochrome c oxidase deficiency and noted that most isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare.

ISOLATED CYTOCHROME C OXIDASE DEFICIENCY Is also known as isolated mitochondrial respiratory chain complex iv deficiency|cox deficiency|isolated cox deficiency|cytochrome c oxidase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED CYTOCHROME C OXIDASE DEFICIENCY

Low match GALLOWAY-MOWAT SYNDROME


Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.

GALLOWAY-MOWAT SYNDROME Is also known as nephrosis-neuronal dysmigration syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|microcephaly, hiatal hernia, and nephrotic syndrome|scar5, formerly|galloway syndrome|cerebellar ataxia with mental retardation, optic atrophy, and skin abnor

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME

Low match PYRUVATE DEHYDROGENASE E3 DEFICIENCY


Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.

PYRUVATE DEHYDROGENASE E3 DEFICIENCY Is also known as e3-deficient maple syrup urine disease|nadh-cytochrome b5 reductase deficiency|dihydrolipoamide dehydrogenase deficiency|nadh-dependent methemoglobin reductase deficiency|methemoglobinemia, congenital, autosomal recessive|dld deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3 DEFICIENCY

Top 5 symptoms//phenotypes associated to Anemia and Spastic tetraplegia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Spasticity 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 Spastic tetraplegia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Tetraplegia

Uncommon Symptoms - Between 30% and 50% cases


Ataxia

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia Vomiting Hyperreflexia Growth delay Optic atrophy Strabismus Dystonia Failure to thrive Short stature Pneumonia Hypertonia Progressive neurologic deterioration Dilatation Muscular hypotonia of the trunk Hypoplasia of the corpus callosum Feeding difficulties Behavioral abnormality Lactic acidosis Ventriculomegaly Dysarthria Spastic diplegia Tetraparesis Severe global developmental delay Abnormality of eye movement Cataract Nystagmus Cerebellar atrophy Thrombocytopenia Coma Increased serum lactate Abnormal facial shape Adducted thumb Abnormality of the nervous system Abnormality of the cerebral white matter Ptosis Hepatomegaly

Rare Symptoms - Less than 30% cases


Opacification of the corneal stroma Absent speech Low-set ears Aspiration Skeletal dysplasia Hepatosplenomegaly Developmental regression Kyphoscoliosis Hypothyroidism Retinal degeneration Exertional dyspnea Cerebral cortical atrophy Hepatic encephalopathy Intellectual disability, profound Sleep disturbance Ascites Myoclonus Chorea Small for gestational age Intrauterine growth retardation Cognitive impairment Oligohydramnios Projectile vomiting Athetosis Hypertelorism Metabolic acidosis Hemolytic anemia Neonatal hypotonia Acidosis Scoliosis Respiratory distress Respiratory insufficiency Epicanthus High palate Cerebral atrophy Reduced visual acuity Generalized tonic-clonic seizures Hepatic failure Abnormal pyramidal sign Babinski sign Visual impairment Splenomegaly Tremor Motor delay Delayed speech and language development Irritability Autoimmune hemolytic anemia Sloping forehead Proteinuria Agenesis of corpus callosum Flexion contracture Micrognathia Cerebral dysmyelination Cardiomyopathy Hypsarrhythmia Recurrent bacterial infections Immunodeficiency Autoimmune thrombocytopenia Severe muscular hypotonia Hyperammonemia Macrotia Microphthalmia Tachypnea Hypertrophic cardiomyopathy Apathy Increased intramyocellular lipid droplets Spastic hemiparesis Gastroesophageal reflux Increased hepatocellular lipid droplets Talipes equinovarus Hydrocephalus Edema Respiratory failure Abnormality of the dentition Renal insufficiency Midface retrusion Muscle weakness Hernia Leukoencephalopathy Cerebellar hypoplasia Encephalopathy Polydipsia Kyphosis Poor head control EEG abnormality Pes cavus Myopathy Poor suck Hypercalciuria Skeletal muscle atrophy Hypertension Apnea Proximal renal tubular acidosis Progressive muscle weakness Microvesicular hepatic steatosis Hemiparesis Glycosuria Polyuria Weak cry Renal tubular acidosis Progressive encephalopathy Mitochondrial myopathy Thoracolumbar scoliosis Renal tubular dysfunction Increased CSF lactate Hyperphosphaturia Periventricular leukomalacia Thoracolumbar kyphosis Respiratory arrest Status epilepticus Cytochrome C oxidase-negative muscle fibers Aminoaciduria Hip dislocation Limb muscle weakness Respiratory insufficiency due to muscle weakness Renal Fanconi syndrome Hepatic steatosis Exercise intolerance Congenital hip dislocation Pulmonary arterial hypertension Spinal muscular atrophy Myotonia Decreased liver function Generalized muscle weakness Aciduria Pigmentary retinopathy Hemiplegia Pachygyria Camptodactyly Hand clenching Encephalomalacia Albuminuria Congenital nephrotic syndrome Abnormality of the intervertebral disk Axial dystonia Diffuse mesangial sclerosis Diaphragmatic eventration Narrow nasal ridge Periorbital edema Laryngospasm Abnormal renal physiology Spastic ataxia Aqueductal stenosis Diffuse cerebral atrophy Tubular atrophy Esophagitis Mild microcephaly Aspiration pneumonia Hypoplasia of the ear cartilage Thyroid dysgenesis Hiatus hernia Polycythemia Hyperisoleucinemia Athetoid cerebral palsy Elevated plasma branched chain amino acids Abnormal cardiac ventricular function Methemoglobinemia Generalized tonic seizures Decreased plasma carnitine Hypercoagulability Neurodevelopmental delay Headache Opisthotonus Cerebral palsy Involuntary movements Cyanosis Muscle cramps Lethargy Elevated hepatic transaminase Hypoglycemia Adrenal hypoplasia Hypoplasia of the iris Abnormality of the kidney Inability to walk Premature birth Delayed myelination Limitation of joint mobility Brain atrophy Gliosis Hypopigmentation of the skin Nephropathy Hematuria Arachnodactyly Dandy-Walker malformation Talipes Poor speech Abnormality of the foot Prominent nasal bridge Camptodactyly of finger Retinopathy Wide mouth Abnormality of the eye Prominent nose Narrow forehead Proportionate short stature Glomerulosclerosis Abnormality of immune system physiology Congenital hypothyroidism Slender finger Abnormality of neuronal migration Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Flat occiput Hypoplasia of the brainstem Hypoalbuminemia Hypotelorism Chronic kidney disease Hyperkinesis Lissencephaly Joint contracture of the hand Progressive microcephaly Postnatal microcephaly Heterotopia Small nail Nephrotic syndrome Sensorineural hearing impairment Intellectual disability, mild Hypopigmented skin patches on arms Titubation Truncal titubation Abnormality of mucopolysaccharide metabolism Oligosacchariduria Progressive psychomotor deterioration Hoarse cry Dysplastic corpus callosum Esodeviation Decreased light- and dark-adapted electroretinogram amplitude Pectus excavatum Motor deterioration Developmental stagnation Increased serum ferritin Abnormality of abdomen morphology Severe vision loss Palpebral edema Iron deficiency anemia Amblyopia Abnormality of ganglioside metabolism Thin upper lip vermilion Esotropia Poor fine motor coordination Gait disturbance Poor gross motor coordination Subependymal cysts Periventricular cysts Decreased activity of the pyruvate dehydrogenase complex Hyperalaninemia Increased serum pyruvate Severe lactic acidosis Spastic paraplegia Corpus callosum atrophy Poor coordination Lipoma Difficulty running Partial agenesis of the corpus callosum Trigonocephaly Broad-based gait Unsteady gait High myopia Retinal dystrophy Dementia Telecanthus Muscle fibrillation Cortical gyral simplification Drooling Knee flexion contracture Decreased body weight Open mouth Abnormality of skin pigmentation Glaucoma Otitis media Congestive heart failure Cryptorchidism Congenital microcephaly Megaloblastic anemia Decreased testicular size Congenital cataract Postnatal growth retardation Hypogonadism Lymphoma Recurrent urinary tract infections Corneal opacity Abnormal T cell morphology Photophobia Coarse facial features Myopia Abnormality of B cell physiology Lymph node hypoplasia Brain abscess Cerebral vasculitis Recurrent opportunistic infections Autoimmune neutropenia Sinusitis Pure red cell aplasia Hypouricemia Impaired T cell function Recurrent viral infections Recurrent lower respiratory tract infections Recurrent upper respiratory tract infections Spastic tetraparesis Lymphopenia Dysphagia Jaundice Arthralgia/arthritis Lumbar hyperlordosis Nephritis Systemic lupus erythematosus Encephalitis Purpura Rhizomelia Abnormal lung morphology Recurrent otitis media Hepatitis Metaphyseal irregularity Cerebral calcification Lymphadenopathy Micromelia Platyspondyly Autoimmunity Respiratory tract infection Hyperlordosis Arthritis Rheumatoid arthritis Combined immunodeficiency Severe short stature Immune dysregulation Metaphyseal sclerosis Progressive spastic quadriplegia Madelung deformity Decrease in T cell count Tubulointerstitial fibrosis Cellular immunodeficiency Spondylometaphyseal dysplasia Juvenile rheumatoid arthritis Restrictive ventilatory defect Barrel-shaped chest Narrow nose Irregular vertebral endplates Vitiligo Recurrent sinusitis Basal ganglia calcification Scleroderma Hypermelanotic macule Arthralgia Recurrent respiratory infections Mental deterioration Mitral valve prolapse Neurofibrillary tangles Prolonged neonatal jaundice Dysphonia Schizophrenia Clumsiness Intention tremor Psychosis Neuronal loss in central nervous system Trismus Neurodegeneration Bruising susceptibility Cirrhosis Abnormality of movement Ophthalmoplegia Neurological speech impairment Skin rash Paralysis Loss of speech Head tremor Recurrent infections Fetal ascites Diarrhea Abnormality of the skeletal system Fatal liver failure in infancy Low cholesterol esterification rates Abnormal cholesterol homeostasis Foam cells in visceral organs and CNS Sea-blue histiocytosis Congenital thrombocytopenia Rapid neurologic deterioration Supranuclear gaze palsy Bone-marrow foam cells Supranuclear ophthalmoplegia Cataplexy Vertical supranuclear gaze palsy Visceromegaly Foam cells Aplasia/Hypoplasia of the abdominal wall musculature Spastic dysarthria Increased urine alpha-ketoglutarate concentration



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