Anemia, and Nystagmus

Diseases related with Anemia and Nystagmus

In the following list you will find some of the most common rare diseases related to Anemia and Nystagmus 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 SENIOR-LOKEN SYNDROME 4; SLSN4


Related symptoms:

  • Anemia
  • Rod-cone dystrophy
  • Stage 5 chronic kidney disease
  • Amblyopia
  • Polydipsia


SOURCES: MESH OMIM MENDELIAN

More info about SENIOR-LOKEN SYNDROME 4; SLSN4

Low match X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA


X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare syndromic, inherited form of sideroblastic anemia (see this term) characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.

X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA Is also known as x-linked sideroblastic anemia with ataxia|xlsa-a|pagon-bird-detter syndrome

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA

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Other less relevant matches:

Low match NEPHRONOPHTHISIS 11; NPHP11


Related symptoms:

  • Global developmental delay
  • Growth delay
  • Nystagmus
  • Strabismus
  • Anemia


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS 11; NPHP11

Low match OSTEOPETROSIS-HYPOGAMMAGLOBULINEMIA SYNDROME


Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation.

OSTEOPETROSIS-HYPOGAMMAGLOBULINEMIA SYNDROME Is also known as osteopetrosis, osteoclast-poor, with hypogammaglobulinemia|autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia|autosomal recessive osteopetrosis type 7

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Nystagmus
  • Anemia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OSTEOPETROSIS-HYPOGAMMAGLOBULINEMIA SYNDROME

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 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

Low match METHYLCOBALAMIN DEFICIENCY TYPE CBLE


Homocystinuria and megaloblastic anemia is an autosomal recessive inborn error of metabolism resulting from defects in the cobalamin (vitamin B12)-dependent pathway that converts homocysteine to methionine, which is catalyzed by methionine synthase (MTR ). Clinical features are somewhat variable, but include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia, all of which respond to cobalamin supplementation. Methylmalonic aciduria is not present. Two complementation groups have been described based on fibroblast studies: CblE and CblG (OMIM ) (Watkins and Rosenblatt, 1988). Cells from patients with CblE fail to incorporate methyltetrahydrofolate into methionine in whole cells, but cell extracts show normal methionine synthase activity in the presence of a reducing agent. Cells from patients with CblG have defects in the methionine synthase enzyme under both conditions (summary by Leclerc et al., 1996).CblG is caused by mutation in the MTR gene.

METHYLCOBALAMIN DEFICIENCY TYPE CBLE Is also known as functional methionine synthase deficiency type cble|homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cble complementation type|methylcobalamin deficiency, cble type|vitamin b12-responsive homocystinuria, cble type

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about METHYLCOBALAMIN DEFICIENCY TYPE CBLE

Top 5 symptoms//phenotypes associated to Anemia and Nystagmus

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Hyperreflexia 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 Nystagmus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cerebral atrophy Spasticity Generalized hypotonia Intellectual disability Ataxia Dysarthria

Rare Symptoms - Less than 30% cases


Growth delay Muscle weakness Failure to thrive Lethargy Gait disturbance Hypertonia Hyperactive deep tendon reflexes Lower limb spasticity Frequent falls Progressive neurologic deterioration Tremor Hemolytic anemia Developmental regression Falls Megaloblastic anemia Polyuria Strabismus Stage 5 chronic kidney disease Irritability Clonus Dysmetria Polydipsia Muscular hypotonia Abnormality of movement Nephronophthisis Babinski sign Focal impaired awareness seizure Encephalopathy Impulsivity Torsion dystonia Hemiplegia Slurred speech Respiratory failure Absence seizures Hypoplasia of the corpus callosum Hypoglycorrhachia Atonic seizures Generalized tonic-clonic seizures without focal onset Episodic ataxia Upper limb dysmetria Focal aware seizure Jerky head movements Reticulocytosis Hand tremor Paroxysmal dystonia Paroxysmal dyskinesia Action tremor Limb dysmetria Migraine without aura Abnormality of the head Neoplasm Tetraparesis Dyspnea Aciduria Hypsarrhythmia Adducted thumb Congenital microcephaly Cerebral dysmyelination Respiratory insufficiency Blindness Cerebral cortical atrophy Intellectual disability, progressive Decreased testicular size Decreased nerve conduction velocity Reduced consciousness/confusion Methylmalonic aciduria Homocystinuria Decreased methylcobalamin Hyperhomocystinemia Decreased methionine synthase activity Spastic tetraplegia Congenital cataract Acidosis Spastic tetraparesis Ophthalmoplegia Lactic acidosis Neurodegeneration Increased serum lactate Optic disc pallor Progressive microcephaly Exotropia External ophthalmoplegia Postnatal growth retardation Leukoencephalopathy Failure to thrive in infancy Stridor Brisk reflexes Abnormality of the periventricular white matter Cataract Thrombocytopenia Hypogonadism Horizontal nystagmus Myoclonus Limb ataxia Fever Tubular atrophy Congenital hepatic fibrosis Anisocoria Renal corticomedullary cysts Tubular basement membrane disintegration Short stature Pneumonia Retinal degeneration Decreased antibody level in blood Progressive visual loss Pancytopenia Increased bone mineral density Recurrent pneumonia Bone marrow hypocellularity Hepatic fibrosis Renal insufficiency Osteopetrosis Abnormality of metabolism/homeostasis Rod-cone dystrophy Amblyopia Severe vision loss Rotary nystagmus Scoliosis Intrauterine growth retardation Neurological speech impairment Nonprogressive cerebellar ataxia Intention tremor Incoordination Dysdiadochokinesis Microcytic anemia Hypochromic microcytic anemia Sideroblastic anemia Hypocalcemia Optic nerve compression Involuntary movements Paresthesia Gait ataxia EEG abnormality Aggressive behavior Intellectual disability, moderate Mental deterioration Generalized tonic-clonic seizures Dyskinesia Cognitive impairment Chorea Migraine Focal-onset seizure Specific learning disability Generalized-onset seizure Choreoathetosis Intellectual disability, mild Limb tremor Abnormal trabecular bone morphology Leukodystrophy Rigidity Abnormality of the nervous system Skin rash Spastic paraplegia Paraplegia Cerebral calcification Toe walking Loss of ability to walk Ankle clonus Freckling Progressive spastic paraplegia Loss of speech Generalized dystonia Moderate global developmental delay Hypomethioninemia



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