Nystagmus, and Thrombocytopenia

Diseases related with Nystagmus and Thrombocytopenia

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


Top matches:

Low match HERMANSKY-PUDLAK SYNDROME TYPE 9


HERMANSKY-PUDLAK SYNDROME TYPE 9 Is also known as hps9

Related symptoms:

  • Seizures
  • Nystagmus
  • Fever
  • Thrombocytopenia
  • Hypopigmentation of the skin


SOURCES: ORPHANET OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME TYPE 9

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 AICARDI-GOUTIERES SYNDROME 3; AGS3


Aicardi-Goutieres syndrome is an autosomal recessive disorder characterized by onset of encephalopathy in the first year of life following normal early development. Affected infants typically show extreme irritability, intermittent unexplained fever, chilblains, progressive microcephaly, spasticity, dystonia, and profound psychomotor retardation. Laboratory studies show lymphocytosis and raised titers of alpha-interferon in the cerebrospinal fluid. Brain imaging may show white matter abnormalities, intracerebral calcifications, and cerebral atrophy. Many patients die in childhood (summary by Vogt et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 3; AGS3

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Other less relevant matches:

Low match MICROCEPHALY-INTELLECTUAL DISABILITY-SENSORINEURAL HEARING LOSS-EPILEPSY-ABNORMAL MUSCLE TONE SYNDROME


Epilepsy, hearing loss, and mental retardation syndrome is an autosomal recessive disorder characterized by severe neurologic impairment including intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss. Most affected individuals are nonambulatory, cannot sit unassisted, and have no speech development. More variable features include feeding difficulties, poor growth, cortical visual impairment, spasticity, scoliosis, immunodeficiency, and thrombocytopenia (summary by Tanaka et al., 2015).

MICROCEPHALY-INTELLECTUAL DISABILITY-SENSORINEURAL HEARING LOSS-EPILEPSY-ABNORMAL MUSCLE TONE SYNDROME Is also known as microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALY-INTELLECTUAL DISABILITY-SENSORINEURAL HEARING LOSS-EPILEPSY-ABNORMAL MUSCLE TONE SYNDROME

Low match NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS


NEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding (summary by Wortmann et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS

Low match HERMANSKY-PUDLAK SYNDROME 5; HPS5


Hermansky-Pudlak syndrome-5 (HPS5) is characterized by oculocutaneous albinism, a bleeding diathesis, and lack of platelet dense bodies. HPS5 appears to be a milder form of the syndrome because the complications present in other forms of HPS, such as pulmonary fibrosis, granulomatous colitis, and neutropenia, have not been reported in HPS5 patients (Ringeisen et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (OMIM ).

Related symptoms:

  • Nystagmus
  • Neoplasm
  • Strabismus
  • Cataract
  • Thrombocytopenia


SOURCES: OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 5; HPS5

Low match PYRIDOXAL PHOSPHATE-RESPONSIVE SEIZURES


Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.

PYRIDOXAL PHOSPHATE-RESPONSIVE SEIZURES Is also known as pyridoxamine 5'-phosphate oxidase deficiency|seizures, pyridoxine-resistant, plp-sensitive|pnpo deficiency|pyridoxal phosphate-dependent seizures|epileptic encephalopathy, neonatal, pnpo-related|pnpo-related neonatal epileptic encephalopathy|pyridoxamine

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Failure to thrive
  • Anemia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYRIDOXAL PHOSPHATE-RESPONSIVE SEIZURES

Low match ATAXIA-PANCYTOPENIA SYNDROME


Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.

ATAXIA-PANCYTOPENIA SYNDROME Is also known as myelocerebellar disorder

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Anemia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ATAXIA-PANCYTOPENIA SYNDROME

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM DUE TO DGUOK DEFICIENCY


Mitochondrial DNA depletion syndrome-3 is a severe autosomal recessive disorder characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes (I, III, IV, and V) and mtDNA depletion (Mandel et al., 2001).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM DUE TO DGUOK DEFICIENCY

Low match COG4-CDG


COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.

COG4-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iij|cdg-iij|cdg syndrome type iij|cdg2j|congenital disorder of glycosylation type iij|congenital disorder of glycosylation type 2j|cdgiij|cdg iij

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COG4-CDG

Top 5 symptoms//phenotypes associated to Nystagmus and Thrombocytopenia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Muscular hypotonia of the trunk Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Nystagmus and Thrombocytopenia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Feeding difficulties Hypertonia Generalized hypotonia Growth delay Cerebral atrophy Failure to thrive Encephalopathy Hypoplasia of the corpus callosum Abnormality of the coagulation cascade Hypoglycemia Acidosis Absent speech Limb hypertonia Ataxia Spasticity Elevated hepatic transaminase Intellectual disability Leukopenia Fever Splenomegaly

Rare Symptoms - Less than 30% cases


Metabolic acidosis Hepatomegaly Increased serum lactate Diffuse cerebral atrophy Recurrent respiratory infections Ocular albinism Cerebellar atrophy Scoliosis Cirrhosis Progressive microcephaly Unsteady gait Albinism Visual impairment Feeding difficulties in infancy Strabismus Neurological speech impairment Anemia Delayed myelination Congenital microcephaly Neutropenia Spastic tetraplegia Hypopigmentation of the skin Dystonia Abnormality of the nervous system Hepatic failure Hepatosplenomegaly CNS hypomyelination Cataract Irritability Lactic acidosis Dysmetria Abnormality of the cerebral white matter Increased sensitivity to ionizing radiation Hypoplastic anemia Edema Muscular hypotonia Acute myelomonocytic leukemia Abnormal macrophage morphology Vertical nystagmus Jaundice Vomiting Myopathy Abnormal platelet function Decreased nerve conduction velocity Abnormality of neutrophils Telangiectasia Babinski sign Gait ataxia Leukemia Distal sensory impairment Postural instability Progressive cerebellar ataxia Gliosis Decreased antibody level in blood Pancytopenia Clonus Gait imbalance Bone marrow hypocellularity Incoordination Myelodysplasia Aplasia/Hypoplasia of the cerebellum Ankle clonus Myeloid leukemia Acute myeloid leukemia Impaired vibration sensation in the lower limbs Hyperactive deep tendon reflexes Acute leukemia Abnormality of the liver Mitochondrial myopathy Ophthalmoplegia Failure to thrive in infancy Recurrent infections Respiratory tract infection Sepsis Sloping forehead Chronic diarrhea Hypercholesterolemia Shock Recurrent upper respiratory tract infections Elevated alkaline phosphatase Thick hair Abnormal facial shape Intermittent diarrhea Generalized neonatal hypotonia Recurrent infection of the gastrointestinal tract Frontotemporal cerebral atrophy Neonatal sepsis Complex febrile seizures Type II transferrin isoform profile Abnormal protein O-linked glycosylation Fatal liver failure in infancy Diarrhea Depletion of mitochondrial DNA in liver Hepatic steatosis Hyponatremia Polyneuropathy Ascites Cholestasis Hyperbilirubinemia Aminoaciduria External ophthalmoplegia Ragged-red muscle fibers Hypoalbuminemia Portal hypertension Progressive external ophthalmoplegia Abnormal conjugate eye movement Dysarthria Severe failure to thrive Hypothermia Severe lactic acidosis Episodic vomiting Decreased activity of mitochondrial respiratory chain Generalized aminoaciduria Micronodular cirrhosis Periportal fibrosis Hepatocellular necrosis Gait disturbance Autistic behavior Abnormality of arginine metabolism Intrauterine growth retardation Cerebral cortical atrophy EEG abnormality Postnatal microcephaly Cerebral visual impairment Absence seizures Abnormal muscle tone Muscle weakness Delayed speech and language development Skeletal muscle atrophy Intellectual disability, severe Optic atrophy Tremor Ventriculomegaly Cardiomyopathy Rod-cone dystrophy Rigidity Aggressive behavior Tetraplegia Amblyopia Immunodeficiency Sensorineural hearing impairment Leukoencephalopathy Megaloblastic anemia Recurrent skin infections Congenital nystagmus Hypopigmentation of the fundus Hypogonadism Postnatal growth retardation Congenital cataract Decreased testicular size Hypsarrhythmia Adducted thumb Cerebral dysmyelination Hearing impairment Severe global developmental delay Pruritus Cerebral calcification Leukodystrophy Muscle stiffness Poor head control Hemiplegia Lymphocytosis CSF lymphocytic pleiocytosis Exotropia Athetosis Abnormality of threonine metabolism Abnormality of the amniotic fluid Premature birth Epileptic encephalopathy Status epilepticus Hemiparesis Global brain atrophy Excessive salivation Moderate global developmental delay Fetal distress Hemiclonic seizures Abnormality of eye movement High-pitched cry Hypoargininemia Decreased CSF homovanillic acid Pyridoxine-responsive sideroblastic anemia EEG with burst suppression Abnormality of histidine metabolism Abnormality of tyrosine metabolism Abnormality of glycine metabolism Low APGAR score Generalized myoclonic seizures Autism Brisk reflexes Abnormal lung morphology Generalized amyotrophy Epileptic spasms Multifocal seizures Mitochondrial encephalopathy Neoplasm Reduced visual acuity Bruising susceptibility Abnormal bleeding Epistaxis Horizontal nystagmus Myoclonus Menorrhagia Pulmonary fibrosis Prolonged bleeding time Colitis Hypoplasia of the fovea Abnormality of the gastrointestinal tract White hair Foam cells Bladder neoplasm Abnormal protein N-linked glycosylation



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