Anemia, and Spasticity

Diseases related with Anemia and Spasticity

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


Top matches:

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Low match LESCH-NYHAN SYNDROME


Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.

LESCH-NYHAN SYNDROME Is also known as hypoxanthine guanine phosphoribosyltransferase deficiency, grade iv|hypoxanthine guanine phosphoribosyltransferase complete deficiency|hprt complete deficiency|hprt deficiency grade iv

Related symptoms:

  • Spasticity
  • Anemia
  • Behavioral abnormality
  • Intellectual disability, mild
  • Renal insufficiency


SOURCES: ORPHANET MENDELIAN

More info about LESCH-NYHAN SYNDROME

Low match N SYNDROME


N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Neoplasm
  • Cryptorchidism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about N SYNDROME

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Other less relevant matches:

Low match BENIGN FAMILIAL NEONATAL EPILEPSY


Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Low match LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC


Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome, is characterized by a constellation of features restricted to the central nervous system, including leukoencephalopathy, brain calcifications, and cysts, resulting in spasticity, dystonia, seizures, and cognitive decline (summary by Labrune et al., 1996).See also cerebroretinal microangiopathy with calcifications and cysts (CRMCC ), an autosomal recessive disorder caused by mutation in the CTC1 gene (OMIM ) that shows phenotypic similarities to Labrune syndrome. CRMCC includes the neurologic findings of intracranial calcifications, leukodystrophy, and brain cysts, but also includes retinal vascular abnormalities and other systemic manifestations, such as osteopenia with poor bone healing, a high risk of gastrointestinal bleeding, hair, skin, and nail changes, and anemia and thrombocytopenia. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic (Anderson et al., 2012; Polvi et al., 2012).

LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC Is also known as labrune syndrome

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC

Low match AICARDI-GOUTIERES SYNDROME 6; AGS6


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Spasticity
  • Tremor


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 6; AGS6

Low match PAROXYSMAL EXERTION-INDUCED DYSKINESIA


Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.

PAROXYSMAL EXERTION-INDUCED DYSKINESIA Is also known as ped with or without epilepsy and/or hemolytic anemia|paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia|dyt18|dystonia 18|ped|paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PAROXYSMAL EXERTION-INDUCED DYSKINESIA

Low 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

Low 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

Low 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

Top 5 symptoms//phenotypes associated to Anemia and Spasticity

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Dystonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Cognitive impairment Hypertonia Ataxia Dysarthria Generalized hypotonia Tremor Abnormality of movement Intellectual disability, mild

Rare Symptoms - Less than 30% cases


Abnormality of the nervous system Hemiplegia Loss of speech Leukoencephalopathy Rigidity Progressive neurologic deterioration Developmental regression Falls Hemolytic anemia Cerebral calcification Frequent falls Lower limb spasticity Spastic tetraparesis Tetraparesis Muscle weakness Hyperreflexia Cerebral atrophy Irritability Failure to thrive Leukodystrophy Neoplasm Behavioral abnormality Mental deterioration Intellectual disability, moderate Gait disturbance Thrombocytopenia Megaloblastic anemia Neurodegeneration Lactic acidosis Ophthalmoplegia Encephalopathy Adducted thumb Lethargy Hypsarrhythmia Acidosis Congenital microcephaly Dyspnea Respiratory failure Short attention span Generalized tonic-clonic seizures without focal onset Hypoplasia of the corpus callosum Increased serum lactate Hypoglycorrhachia Upper limb dysmetria Focal aware seizure Jerky head movements Paroxysmal dystonia Paroxysmal dyskinesia Limb dysmetria Migraine without aura Abnormality of the head Torsion dystonia Episodic ataxia Spastic tetraplegia Exotropia Optic disc pallor Oroticaciduria Optic nerve hypoplasia Abnormality of the genitourinary system Aciduria Coma Poor speech Episodic vomiting Normochromic anemia Hyperactivity Cystinuria Hand tremor Vomiting Hyperlysinuria Asthenia Delayed speech and language development Decreased testicular size Muscular hypotonia Abnormality of the periventricular white matter Hyperlysinemia Growth delay Cataract Hypogonadism Postnatal growth retardation Brisk reflexes Stridor Failure to thrive in infancy External ophthalmoplegia Congenital cataract Ectopia lentis Action tremor Dysmetria Reticulocytosis Abnormality of chromosome stability Skin rash Babinski sign Abnormality of the vasculature Hemiparesis Abnormality of extrapyramidal motor function Gastrointestinal hemorrhage Gliosis Inability to walk Abnormality of the cerebral white matter Abnormal pyramidal sign Osteopenia T-cell lymphoma/leukemia Abnormal eye morphology Chromosome breakage Paraplegia Abnormal eyelid morphology Megalocornea Bilateral sensorineural hearing impairment Leukemia Hypospadias Visual impairment Cryptorchidism Hearing impairment Gout Hyperuricemia Hemiplegia/hemiparesis Hematuria Renal insufficiency Spastic paraplegia Clonus Hyperactive deep tendon reflexes Migraine Atonic seizures Impulsivity Focal impaired awareness seizure Slurred speech Absence seizures Horizontal nystagmus Progressive microcephaly Limb ataxia Involuntary movements Choreoathetosis Generalized-onset seizure Specific learning disability Focal-onset seizure Chorea Toe walking Dyskinesia Paresthesia Generalized tonic-clonic seizures Aggressive behavior EEG abnormality Gait ataxia Myoclonus Limb tremor Loss of ability to walk Moderate global developmental delay Generalized dystonia Progressive spastic paraplegia Freckling Ankle clonus Cerebral dysmyelination



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