Anemia, and Progressive neurologic deterioration

Diseases related with Anemia and Progressive neurologic deterioration

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


Top matches:

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 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 REVESZ SYNDROME


Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.

REVESZ SYNDROME Is also known as exudative retinopathy with bone marrow failure|dkca5|dyskeratosis congenita, autosomal dominant 5|dyskeratosis congenita with bilateral exudative retinopathy|retinopathy-anemia-central nervous system anomalies syndrome|revesz-debuse syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Nystagmus
  • Anemia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about REVESZ SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match GAUCHER DISEASE, TYPE II


Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000).

GAUCHER DISEASE, TYPE II Is also known as gaucher disease, acute neuronopathic type|gd ii

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Strabismus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE II

Low 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

Low 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

Low match JUVENILE HUNTINGTON DISEASE


Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

JUVENILE HUNTINGTON DISEASE Is also known as huntington chorea|jhd|juvenile huntington chorea

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HUNTINGTON DISEASE

Low 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

Low 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

Low match GALACTOSIALIDOSIS


Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.

GALACTOSIALIDOSIS Is also known as ppca deficiency|lysosomal protective protein deficiency|goldberg syndrome|ngbe|cathepsin a deficiency|protective protein/cathepsin a deficiency|neuraminidase/beta-galactosidase expression|neuraminidase deficiency with beta-galactosidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GALACTOSIALIDOSIS

Top 5 symptoms//phenotypes associated to Anemia and Progressive neurologic deterioration

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Dystonia Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Anemia and Progressive neurologic deterioration. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Spasticity

Uncommon Symptoms - Between 30% and 50% cases


Hyperreflexia Developmental regression Dysarthria Abnormality of the nervous system Hepatosplenomegaly Nystagmus Generalized hypotonia Tremor Hypertonia Mental deterioration Gait disturbance Hypoplasia of the corpus callosum Cerebral atrophy Acidosis Abnormality of the cerebral white matter Ophthalmoplegia Neurodegeneration Tetraparesis Abnormality of eye movement Broad-based gait Microcephaly Dysphagia Respiratory distress Splenomegaly Thrombocytopenia Spastic tetraplegia Growth delay Myoclonus Failure to thrive Rigidity Hemolytic anemia Falls

Rare Symptoms - Less than 30% cases


Abnormality of movement Aspiration Neonatal hypotonia Visceromegaly Foam cells Schizophrenia Strabismus Hepatomegaly Cerebral calcification Spastic paraplegia Esotropia Delayed speech and language development Trismus Cognitive impairment Vomiting Opacification of the corneal stroma Metabolic acidosis Ascites Skin rash Intention tremor Retinal degeneration Babinski sign Corneal opacity Coarse facial features Skeletal dysplasia Muscular hypotonia Clumsiness Cerebellar atrophy Increased serum lactate Dementia Ventriculomegaly Lactic acidosis Spastic tetraparesis Neuronal loss in central nervous system Irritability Loss of speech Respiratory failure Intrauterine growth retardation Optic atrophy Behavioral abnormality Head tremor Chorea Dilated fourth ventricle Corpus callosum atrophy Lipoma Cerebellar vermis atrophy Poor coordination Decreased activity of the pyruvate dehydrogenase complex Chronic bronchitis Severe lactic acidosis Hyperalaninemia Restlessness Upper limb undergrowth Poor fine motor coordination Difficulty running Testicular atrophy Increased serum pyruvate High palate Trigonocephaly Partial agenesis of the corpus callosum Severe global developmental delay Epicanthus Respiratory insufficiency Dilatation Pectus excavatum Hypokinesia Agenesis of corpus callosum Thin upper lip vermilion Hypertelorism Muscle fibrillation Oral motor hypotonia Paranoia Unsteady gait Frequent temper tantrums Suicidal ideation Neuronal loss in basal ganglia Abnormal involuntary eye movements Akinesia Coma Mania Bronchitis Spastic diplegia Muscular hypotonia of the trunk Neurofibrillary tangles Periventricular cysts Telangiectasia Fatal liver failure in infancy Short stature Hearing impairment Depressed nasal bridge Edema Hernia Visual loss Inguinal hernia Severe short stature Arthralgia Abnormality of the kidney Inability to walk Cardiomegaly Hydrops fetalis Abnormal cholesterol homeostasis Abnormal vertebral morphology Aortic regurgitation Hemangioma Spondyloepiphyseal dysplasia Abnormality of the vertebral column Dysostosis multiplex Nonimmune hydrops fetalis Hemophagocytosis Conjunctival telangiectasia Vacuolated lymphocytes Mucopolysacchariduria Angiokeratoma Arthralgia of the hip Cherry red spot of the macula Low cholesterol esterification rates Foam cells in visceral organs and CNS Subependymal cysts Intellectual disability, profound Projectile vomiting Poor gross motor coordination Pneumonia Jaundice Paralysis Abnormal pyramidal sign Neurological speech impairment Generalized tonic-clonic seizures Cirrhosis Bruising susceptibility Sleep disturbance Tetraplegia Oligohydramnios Mitral valve prolapse Psychosis Sea-blue histiocytosis Dysphonia Athetosis Prolonged neonatal jaundice Personality changes Supranuclear gaze palsy Spastic dysarthria Aplasia/Hypoplasia of the abdominal wall musculature Vertical supranuclear gaze palsy Cataplexy Supranuclear ophthalmoplegia Bone-marrow foam cells Rapid neurologic deterioration Fetal ascites Congenital thrombocytopenia Obsessive-compulsive behavior Progressive psychomotor deterioration Rheumatoid arthritis Reticulated skin pigmentation Nail dystrophy Fine hair Hyperpigmentation of the skin Bone marrow hypocellularity Purpura Megalocornea Aplastic anemia Oral leukoplakia Nail pits Ridged fingernail Leukocoria Exudative retinopathy Sparse hair Fine, reticulate skin pigmentation Feeding difficulties Apnea Oculomotor apraxia Protuberant abdomen Bulbar signs Recurrent aspiration pneumonia Fatigue Recurrent infections Nausea Neutropenia Sepsis Retinopathy Cerebellar hypoplasia Pigmentary retinopathy Loss of ability to walk Paraplegia Frequent falls Lower limb spasticity Leukodystrophy Clonus Toe walking Ankle clonus Freckling Progressive spastic paraplegia Generalized dystonia Moderate global developmental delay Limb tremor Abnormality of metabolism/homeostasis Muscle weakness Encephalopathy Dyspnea Lethargy Optic disc pallor Exotropia External ophthalmoplegia Leukoencephalopathy Failure to thrive in infancy Stridor Brisk reflexes Abnormality of the periventricular white matter Aciduria Recurrent bacterial infections Slurred speech Anxiety Oligosacchariduria Abnormality of mucopolysaccharide metabolism Truncal titubation Abnormality of ganglioside metabolism Hypertension Depressivity Diabetes mellitus Hyperactivity Gait ataxia Weight loss Arthritis Aggressive behavior Dysplastic corpus callosum Cough Infertility Abnormal cerebellum morphology Progressive cerebellar ataxia Gliosis Brain atrophy Bradykinesia Generalized-onset seizure Type II diabetes mellitus Involuntary movements Hyperkinesis Incoordination Hoarse cry Cerebral dysmyelination Renal tubular acidosis Reduced visual acuity Increased reactive oxygen species production Compensated hemolytic anemia Chronic metabolic acidosis Glutathione synthetase deficiency Psychotic mentation Increased level of L-pyroglutamic acid in urine Abnormal facial shape Cataract Visual impairment Myopia Absent speech Photophobia Esodeviation Retinal dystrophy High myopia Amblyopia Iron deficiency anemia Palpebral edema Severe vision loss Abnormality of abdomen morphology Increased serum ferritin Developmental stagnation Motor deterioration Decreased light- and dark-adapted electroretinogram amplitude Titubation Decreased beta-galactosidase activity



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopathy and Pectus carinatum, related diseases and genetic alterations Ptosis and Epistaxis, related diseases and genetic alterations Pain and Gynecomastia, related diseases and genetic alterations Cardiomyopathy and Camptodactyly, related diseases and genetic alterations Peripheral neuropathy and Dandy-Walker malformation, related diseases and genetic alterations Abnormal facial shape and Abnormality of the cardiovascular system, related diseases and genetic alterations Skeletal muscle atrophy and Ventriculomegaly, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more