Anemia, and Leukodystrophy

Diseases related with Anemia and Leukodystrophy

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


Top matches:

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 LYSOSOMAL ACID LIPASE DEFICIENCY


Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001).

LYSOSOMAL ACID LIPASE DEFICIENCY Is also known as lal deficiency|cholesterol ester hydrolase deficiency|cholesteryl ester storage disease|lipa deficiency|cesd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYSOSOMAL ACID LIPASE DEFICIENCY

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Other less relevant matches:

Low match LEIGH SYNDROME WITH LEUKODYSTROPHY


LEIGH SYNDROME WITH LEUKODYSTROPHY Is also known as leigh disease with leukodystrophy|infantile subacute necrotizing encephalopathy with leukodystrophy

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about LEIGH SYNDROME WITH LEUKODYSTROPHY

Low match AICARDI-GOUTIERES SYNDROME 4; AGS4


Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 4; AGS4

Low match MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY


Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY Is also known as myoneurogastrointestinal encephalopathy syndrome|polip syndrome|mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related|polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction|mngie|mngie, tymp-related

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY

Low match AICARDI-GOUTIÈRES SYNDROME


Aicardi-Goutières syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.

AICARDI-GOUTIÈRES SYNDROME Is also known as encephalopathy with basal ganglia calcification|encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AICARDI-GOUTIÈRES SYNDROME

Low match COATS PLUS SYNDROME


Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.

COATS PLUS SYNDROME Is also known as cerebroretinal microangiopathy with calcifications and cysts|coats plus syndrome|crmcc

Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COATS PLUS SYNDROME

Low match ISOLATED COMPLEX I DEFICIENCY


Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

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

Top 5 symptoms//phenotypes associated to Anemia and Leukodystrophy

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

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

Uncommon Symptoms - Between 30% and 50% cases


Cerebral calcification Intellectual disability Abnormality of movement Ptosis Failure to thrive Generalized hypotonia Growth delay Ataxia Tremor Thrombocytopenia Dysarthria Abnormality of the cerebral white matter Developmental regression Vomiting Hepatomegaly Short stature Hearing impairment Strabismus Abnormal pyramidal sign Peripheral neuropathy Hyperreflexia Optic atrophy Acidosis Cirrhosis Mental deterioration Feeding difficulties Apnea Nystagmus Microcephaly Abnormality of the vasculature Increased serum lactate Intrauterine growth retardation

Rare Symptoms - Less than 30% cases


Portal hypertension Decreased activity of mitochondrial respiratory chain Cachexia Hypertrophic cardiomyopathy Febrile seizures Proximal muscle weakness Malnutrition Abdominal distention Hepatic steatosis Hepatic failure Retinopathy Mitochondrial myopathy Increased CSF lactate Severe global developmental delay Esophageal varix Elevated hepatic transaminase Pneumonia Encephalopathy Hypertonia Cerebellar atrophy Pigmentary retinopathy Progressive cerebellar ataxia Respiratory insufficiency Ophthalmoplegia Muscular hypotonia Malabsorption Abnormality of the liver Skin rash Toe walking Skeletal muscle atrophy Lower limb spasticity Dysphagia Myopathy Areflexia Abnormality of eye movement Basal ganglia calcification Limb muscle weakness Muscular hypotonia of the trunk Hepatosplenomegaly Feeding difficulties in infancy Babinski sign Loss of speech Hemiplegia Osteopenia Hemiparesis Abnormality of extrapyramidal motor function Gastrointestinal hemorrhage Gliosis Irritability Pain Splenomegaly Muscle weakness Hypertension Lactic acidosis Weight loss Hernia Ragged-red muscle fibers Progressive spastic paraplegia Macrovesicular hepatic steatosis Diarrhea Sensorineural hearing impairment Blindness CSF lymphocytic pleiocytosis Renal insufficiency Spastic hemiparesis Atrial septal defect Edema Congestive heart failure Respiratory distress Cardiomyopathy Decreased pulmonary function Talipes equinovarus Fatigue Abnormal facial shape Visual impairment Macrocephaly Micrognathia Nail dysplasia Exudative retinopathy Porencephalic cyst Postnatal growth retardation Osteoporosis Scoliosis Deep white matter hypodensities Chilblains Arrhinencephaly Immune dysregulation Small for gestational age Eyelid coloboma Central hypotonia Thrombocytosis Arthropathy Hemiplegia/hemiparesis Scaling skin Sparse hair Nail dystrophy Retinal telangiectasia Hematochezia Retinal exudate Metaphyseal sclerosis Intestinal bleeding Morphological abnormality of the pyramidal tract Oral leukoplakia Calcinosis Pathologic fracture Genu valgum Short femoral neck Increased susceptibility to fractures Bone marrow hypocellularity Telangiectasia Thin skin Recurrent fractures Patent ductus arteriosus Optic disc pallor Hyporeflexia Wolff-Parkinson-White syndrome Oral-pharyngeal dysphagia Adrenal insufficiency Global brain atrophy Pericardial effusion Progressive spasticity Poor eye contact Weak cry Renal tubular acidosis Optic neuropathy Progressive encephalopathy Cardiorespiratory arrest Aspiration pneumonia Nemaline bodies Corpus callosum atrophy Shock Severe lactic acidosis Cerebral edema Acute pancreatitis Stiff neck Axial dystonia Biventricular hypertrophy Infantile encephalopathy Cardiogenic shock Progressive macrocephaly Necrotizing encephalopathy Congenital lactic acidosis Abnormal mitochondria in muscle tissue Acute necrotizing encephalopathy Exercise-induced lactic acidemia Incoordination Pancreatitis Agenesis of corpus callosum Abnormal cerebellum morphology Myoclonus Respiratory failure Kyphoscoliosis Hypoglycemia Myalgia Abnormality of the eye Pallor Stroke Lethargy Talipes Stage 5 chronic kidney disease Dyskinesia Metabolic acidosis Coma Generalized myoclonic seizures Exercise intolerance Brain atrophy Premature birth Migraine Cyanosis Postnatal microcephaly Congenital diaphragmatic hernia Cardiomegaly Coarctation of aorta Ventricular hypertrophy Left ventricular hypertrophy Wide anterior fontanel Aspiration Cardiac arrest Horizontal nystagmus Plagiocephaly Easy fatigability Choreoathetosis Emotional lability Abnormality of lipid metabolism Acute hepatic failure Foam cells Hyperlipoproteinemia Vacuolated lymphocytes Low-grade fever Periportal fibrosis Bone-marrow foam cells Adrenal calcification Ventricular septal defect Intellectual disability, severe Hypertrichosis Decreased activity of the pyruvate dehydrogenase complex Steatorrhea Focal T2 hyperintense basal ganglia lesion Low-set ears Ventriculomegaly Hydrocephalus Cerebral atrophy Paralysis Pruritus Convex nasal ridge Pancytopenia Progressive microcephaly Bradycardia Muscle stiffness Leukopenia Protuberant abdomen Hypercholesterolemia Facial paralysis Freckling Gait disturbance Inability to walk Rigidity Abnormality of the nervous system Spastic paraplegia Paraplegia Falls Hemolytic anemia Progressive neurologic deterioration Frequent falls Clonus Ankle clonus Generalized dystonia Hyperlipidemia Moderate global developmental delay Loss of ability to walk Limb tremor Fever Umbilical hernia Jaundice Scarring Ascites Pulmonary arterial hypertension Hypertriglyceridemia Hepatic fibrosis Increased body weight Atherosclerosis Atrophy/Degeneration affecting the brainstem Lymphocytosis Intellectual disability, profound Decreased sensory nerve conduction velocity Slender build Absent Achilles reflex Demyelinating peripheral neuropathy Gastrointestinal dysmotility Skeletal myopathy Abnormality of the mitochondrion Decreased number of large peripheral myelinated nerve fibers Intestinal pseudo-obstruction Hyperalaninemia Intermittent diarrhea Gastroparesis Cytochrome C oxidase-negative muscle fibers Diffuse leukoencephalopathy Increased CSF protein Multiple mitochondrial DNA deletions Subsarcolemmal accumulations of abnormally shaped mitochondria Intestinal perforation Hypointensity of cerebral white matter on MRI Atrophic muscularis propria Abnormal cell morphology Abnormality of the extraocular muscles Small intestinal dysmotility Flexion contracture Hypoplasia of the corpus callosum Cerebral cortical atrophy Dry skin Delayed myelination Abnormality of the gastrointestinal tract Progressive external ophthalmoplegia Constipation Sensorimotor neuropathy Dementia Abdominal pain Gastroesophageal reflux Distal muscle weakness Muscular dystrophy Paresthesia Peripheral axonal neuropathy Nausea Distal amyotrophy Distal sensory impairment Polyneuropathy Peripheral demyelination Chronic diarrhea Foot dorsiflexor weakness Poor appetite Hypergonadotropic hypogonadism Hypogonadotrophic hypogonadism External ophthalmoplegia Polycystic ovaries Abnormality of the hand Bilateral ptosis Abnormality of mitochondrial metabolism Ophthalmoparesis Decreased motor nerve conduction velocity Decreased muscle mass Difficulty climbing stairs Axonal degeneration Scleroderma Neoplasm



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Synophrys, related diseases and genetic alterations Intrauterine growth retardation and Amenorrhea, related diseases and genetic alterations Dysarthria and Progressive hearing impairment, related diseases and genetic alterations Hydrocephalus and Hypoplasia of the corpus callosum, related diseases and genetic alterations Edema and Interphalangeal joint contracture of finger, related diseases and genetic alterations Microcephaly and Kyphosis, related diseases and genetic alterations

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