Anemia, and Cerebral atrophy

Diseases related with Anemia and Cerebral atrophy

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


Top matches:

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 MEDULLARY SPONGE KIDNEY


Medullary cystic kidney disease (MCKD) is an autosomal dominant form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade (Wolf et al., 2004).Although early reports suggested that medullary cystic kidney disease and familial juvenile nephronophthisis (NPHP1 ) represented the same disease entity because of the overlapping phenotype (Chamberlin et al., 1977), they are now considered to be distinct disorders. MCKD has adult onset and shows autosomal dominant inheritance, whereas NPHP1 has juvenile onset and shows autosomal recessive inheritance (Christodoulou et al., 1998). NPHP1 is caused by mutation in the nephrocystin gene (NPHP1 ) on chromosome 2q13. Genetic Heterogeneity of Medullary Cystic Kidney DiseaseSee also MCKD2 (OMIM ), which is caused by mutation in the UMOD gene (OMIM ) on chromosome 16p.

MEDULLARY SPONGE KIDNEY Is also known as cacchi-ricci disease|msk|medullary cystic kidney disease, autosomal dominant|admckd1|polycystic kidneys, medullary type|mckd|precalicial canalicular ectasia

Related symptoms:

  • Pain
  • Anemia
  • Hypertension
  • Renal insufficiency
  • Cerebral cortical atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEDULLARY SPONGE KIDNEY

Mendelian

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

Learn more

Other less relevant matches:

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

Low match CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE


Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the hematologic findings of megaloblastic anemia and variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy (Banka et al., 2011) to childhood absence epilepsy with learning difficulties to lack of symptoms (Cario et al., 2011). Treatment with folinic acid can ameliorate some of the symptoms.

CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE Is also known as dihydrofolate reductase deficiency|dhfr deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE

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 CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME


Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.

CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME Is also known as sifd syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14


Combined oxidative phosphorylation defect type 14 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anemia and thrombocytopenia.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14 Is also known as coxpd14

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14

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 METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC (MAHCC ), cblD, cblF (MAHCF ), and cblJ (MAHCJ ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ), caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24. Another form of isolated MMA (OMIM ) can be caused by defect in the transcobalamin receptor (CD320 ).

METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1 Is also known as methylmalonic acidemia, cblh type, formerly|functional methionine synthase deficiency type cbldv1|methylmalonic aciduria, cblh type, formerly|methylmalonic acidemia and homocystinuria, cbld type

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1

Top 5 symptoms//phenotypes associated to Anemia and Cerebral atrophy

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cerebral cortical atrophy Feeding difficulties Hyperreflexia Microcephaly Nystagmus Methylmalonic aciduria Gait disturbance Megaloblastic anemia Aciduria Hepatomegaly Cerebellar atrophy Thrombocytopenia Lactic acidosis Lethargy Acidosis Intellectual disability Dystonia Spasticity

Rare Symptoms - Less than 30% cases


Irritability Respiratory distress Encephalopathy Respiratory failure Developmental regression Ophthalmoplegia EEG abnormality Increased serum lactate Growth delay Progressive neurologic deterioration Hearing impairment Pallor Neuronal loss in central nervous system Aminoaciduria Myoclonus Ventriculomegaly Dysarthria Hypomethioninemia Decreased methionine synthase activity Hyperhomocystinemia Decreased methylcobalamin Homocystinuria Muscle weakness Hypoplasia of the corpus callosum Neurodegeneration Muscular hypotonia Generalized-onset seizure Absence seizures Jaundice Abnormality of the mitochondrion Delayed myelination Diffuse cerebral atrophy Pancytopenia Cerebellar vermis hypoplasia Poor head control Postnatal microcephaly Central hypotonia Eyelid myoclonus Absence seizures with eyelid myoclonia Strabismus Dysphagia Atrophy/Degeneration affecting the brainstem Splenomegaly Cerebellar hypoplasia Dilatation Hepatosplenomegaly Decreased adenosylcobalamin Respiratory insufficiency Blindness Dehydration Intellectual disability, progressive Decreased nerve conduction velocity Abnormality of the nervous system Reduced consciousness/confusion Behavioral abnormality Methylmalonic acidemia Vomiting Fatigue Neoplasm Epilepsia partialis continua Mitochondrial encephalopathy Megaloblastic bone marrow Type 2 muscle fiber atrophy Generalized aminoaciduria Enterocolitis Visual impairment Rigidity Lymphopenia Babinski sign Intracranial hemorrhage Renal cortical atrophy Immunodeficiency Rod-cone dystrophy Abnormal cerebellum morphology Decreased antibody level in blood Nephrocalcinosis Spastic paraplegia Wide nasal bridge Brittle hair Microcytic anemia Anemia of inadequate production Hypochromic microcytic anemia Sideroblastic anemia Schistocytosis Congestive heart failure Paraplegia Delayed speech and language development Ragged-red muscle fibers Esotropia Aspiration Oculomotor apraxia Protuberant abdomen Trismus Bulbar signs Recurrent aspiration pneumonia Status epilepticus Cardiomyopathy Hypsarrhythmia Sensorineural hearing impairment Epileptic encephalopathy Anorexia Gliosis Spastic ataxia Generalized myoclonic seizures Increased mean corpuscular volume Apnea Fair hair Impaired renal uric acid clearance Episodic ataxia Slurred speech Hemiplegia Focal impaired awareness seizure Impulsivity Atonic seizures Hyperactive deep tendon reflexes Reticulocytosis Hand tremor Action tremor Torsion dystonia Progressive microcephaly Abnormality of the head Migraine without aura Limb dysmetria Paroxysmal dyskinesia Paroxysmal dystonia Jerky head movements Focal aware seizure Upper limb dysmetria Hypoglycorrhachia Generalized tonic-clonic seizures without focal onset Horizontal nystagmus Limb ataxia Dyspnea Dysmetria Cognitive impairment Tremor Intellectual disability, mild Gait ataxia Aggressive behavior Intellectual disability, moderate Mental deterioration Generalized tonic-clonic seizures Abnormality of movement Paresthesia Lower limb spasticity Falls Dyskinesia Hemolytic anemia Chorea Migraine Focal-onset seizure Specific learning disability Choreoathetosis Involuntary movements Frequent falls Hypertonia Optic disc pallor Pyuria Hemihypertrophy Nephritis Polyuria Nephronophthisis Hyperuricemia Gout Elevated serum creatinine Tubulointerstitial nephritis Renal salt wasting Tubular atrophy Thin bony cortex Glomerulosclerosis Tubulointerstitial fibrosis Decreased glomerular filtration rate Distal renal tubular acidosis Tubulointerstitial abnormality Renal cortical cysts Flank pain Renal corticomedullary cysts Multiple small medullary renal cysts Tubular basement membrane disintegration Global glomerulosclerosis Polydipsia Polycystic kidney dysplasia Tetraparesis Hypertension Exotropia Spastic tetraparesis External ophthalmoplegia Leukoencephalopathy Failure to thrive in infancy Stridor Brisk reflexes Abnormality of the periventricular white matter Pain Renal insufficiency Hypercalciuria Proteinuria Abnormality of the kidney Stage 5 chronic kidney disease Hematuria Nephropathy Renal cyst Hypotension Renal hypoplasia Nephrolithiasis Chronic kidney disease Decreased methylmalonyl-CoA mutase activity



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Amenorrhea, related diseases and genetic alterations Congestive heart failure and Bruising susceptibility, related diseases and genetic alterations Wide nasal bridge and Sparse and thin eyebrow, related diseases and genetic alterations Micrognathia and Intrauterine growth retardation, related diseases and genetic alterations Anemia and Intestinal malrotation, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more