Anemia, and Motor delay

Diseases related with Anemia and Motor delay

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


Top matches:

Low match JERVELL AND LANGE-NIELSEN SYNDROME


Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive variant of familial long QT syndrome (see this term) characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and ventricular tachyarrhythmias.

JERVELL AND LANGE-NIELSEN SYNDROME Is also known as long qt interval-deafness syndrome

Related symptoms:

  • Seizures
  • Hearing impairment
  • Diarrhea
  • Sudden cardiac death
  • Syncope


SOURCES: OMIM ORPHANET MENDELIAN

More info about JERVELL AND LANGE-NIELSEN SYNDROME

Low match INTERSTITIAL LUNG AND LIVER DISEASE; ILLD


Interstitial lung and liver disease is an autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood. Pathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis (summary by Hadchouel et al., 2015).

INTERSTITIAL LUNG AND LIVER DISEASE; ILLD Is also known as infantile liver failure syndrome 2, formerly|pulmonary alveolar proteinosis, reunion island|ilfs2, formerly

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Motor delay
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about INTERSTITIAL LUNG AND LIVER DISEASE; ILLD

Low match ACUTE INFANTILE LIVER FAILURE-MULTISYSTEMIC INVOLVEMENT SYNDROME


Acute infantile liver failure-multisystemic involvement syndrome is a rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE-MULTISYSTEMIC INVOLVEMENT SYNDROME

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Other less relevant matches:

Low match BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD


BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).

BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD Is also known as macinnes syndrome|mcins

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

Low match DILATED CARDIOMYOPATHY WITH ATAXIA


Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.

DILATED CARDIOMYOPATHY WITH ATAXIA Is also known as mga5|dcma|3-methylglutaconic aciduria type 5|cardiomyopathy, dilated, with ataxia|mga, type v|dcma syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DILATED CARDIOMYOPATHY WITH ATAXIA

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66

Low match MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2


Myopathy, lactic acidosis, and sideroblastic anemia-2 is an autosomal recessive disorder of the mitochondrial respiratory chain. The disorder shows marked phenotypic variability: some patients have a severe multisystem disorder from infancy, including cardiomyopathy and respiratory insufficiency resulting in early death, whereas others present in the second or third decade of life with sideroblastic anemia and mild muscle weakness (summary by Riley et al., 2013).For a discussion of genetic heterogeneity of MLASA, see MLASA1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2

Low match PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY


Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Is also known as pnp deficiency|pnpase deficiency|nucleoside phosphorylase deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

Low match LESCH-NYHAN SYNDROME; LNS


LESCH-NYHAN SYNDROME; LNS Is also known as hprt deficiency, complete|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|hprt deficiency|hprt1 deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about LESCH-NYHAN SYNDROME; LNS

Low match TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY


Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Anemia and Motor delay

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development Behavioral abnormality Elevated hepatic transaminase Hyperreflexia Muscular hypotonia Hepatomegaly Spasticity Cardiomyopathy Hepatic steatosis Lactic acidosis Muscle weakness

Rare Symptoms - Less than 30% cases


Cryptorchidism Growth delay Dystonia Autistic behavior Autism Intellectual disability, mild Short stature Macrocytic anemia Microcytic anemia Congestive heart failure Splenomegaly Nystagmus Skeletal muscle atrophy Abnormal pyramidal sign Hypertrophic cardiomyopathy Respiratory failure Areflexia Myopathy Dysphagia Scoliosis Strabismus Hearing impairment Recurrent urinary tract infections Progressive muscle weakness Tremor Respiratory insufficiency due to muscle weakness Babinski sign Abnormality of the coagulation cascade Ataxia Microcephaly Hepatic failure Vomiting Sudden cardiac death Cirrhosis Respiratory distress Respiratory insufficiency Abnormality of the liver Delayed gross motor development Acidosis Prolonged QT interval Impaired T cell function Autoimmune hemolytic anemia Autoimmune thrombocytopenia Recurrent lower respiratory tract infections Recurrent viral infections Abnormal T cell morphology Hypouricemia Pure red cell aplasia Autoimmune neutropenia Recurrent upper respiratory tract infections Optic disc pallor Recurrent opportunistic infections Cerebral vasculitis Brain abscess Lymph node hypoplasia Abnormality of B cell physiology Neuronal loss in central nervous system Spastic diplegia Lymphopenia Spastic tetraparesis Diaphragmatic paralysis Sideroblastic anemia Congenital hemolytic anemia Chronic hemolytic anemia Abnormal posturing Normochromic anemia Nonspherocytic hemolytic anemia Immunodeficiency Cholecystitis Pneumonia Tetraplegia Normocytic anemia Abnormality of immune system physiology Recurrent bacterial infections Cholelithiasis Lymphoma Decreased nerve conduction velocity Otitis media Spastic tetraplegia Involuntary movements Intention tremor Tetraparesis Oligohydramnios Sinusitis Flexion contracture Pain Dyskinesia Dysarthria Hyperuricosuria Self-mutilation Gout Unsteady gait Megaloblastic anemia Dyslexia Limb muscle weakness Focal dystonia Pallor Testicular atrophy Facial grimacing Excessive purine production Opisthotonus Bladder stones Respiratory tract infection Jaundice Podagra Peripheral neuropathy Recurrent respiratory infections Hyporeflexia Gait disturbance Recurrent infections Fatigue Kyphosis Hyperuricemia Athetosis Hypertonia Chorea Cerebral atrophy Renal insufficiency Clinodactyly Clinodactyly of the 5th finger Rigidity Arthritis Aggressive behavior Irritability Hip dislocation Hematuria Nephropathy Abnormality of extrapyramidal motor function Proximal placement of thumb Choreoathetosis Clumsiness Nephrolithiasis Stereotypy Spastic gait Finger clinodactyly Hemolytic anemia Skeletal myopathy Cerebral palsy Self-injurious behavior Oral-pharyngeal dysphagia Proximal tubulopathy Enlarged cisterna magna Ketosis Abnormality of the pinna Full cheeks Long fingers Acute hepatic failure Long toe Cleft palate Low-set ears High palate Depressed nasal bridge Epicanthus Brachycephaly Conductive hearing impairment Thick eyebrow Sensorineural hearing impairment Highly arched eyebrow Single transverse palmar crease Bifid uvula Long eyelashes Brittle hair Flat occiput Increased number of teeth Bilateral conductive hearing impairment Intrauterine growth retardation Optic atrophy Hypospadias Frontal bossing Alveolar proteinosis Hypoglycemia Epileptic spasms Diarrhea Syncope Bilateral sensorineural hearing impairment Cardiac arrest Ventricular tachycardia Abnormal intestine morphology Ventricular arrhythmia Congenital sensorineural hearing impairment Ventricular fibrillation Vestibular dysfunction Iron deficiency anemia T-wave inversion Severe failure to thrive Torsade de pointes T-wave alternans Hypothyroidism Dyspnea Cough Cholestasis Abnormal lung morphology Decreased liver function Aminoaciduria Clubbing Interstitial pulmonary abnormality Arrhythmia Postnatal growth retardation Generalized amyotrophy Feeding difficulties Downturned corners of mouth Neutropenia Generalized myoclonic seizures Epileptic encephalopathy Hypsarrhythmia Status epilepticus Broad-based gait Cerebral visual impairment Obsessive-compulsive behavior Delayed ability to walk Ptosis Hypoplasia of the corpus callosum Synophrys Muscular hypotonia of the trunk Lethargy Metabolic acidosis Increased serum lactate Ventricular hypertrophy Left ventricular hypertrophy Exercise intolerance Shock Tachypnea Hyperammonemia Ragged-red muscle fibers Astigmatism Hypermetropia Dilated cardiomyopathy Noncompaction cardiomyopathy Aciduria Decreased testicular size Mitral regurgitation Abnormality of the genital system Hypokinesia Perineal hypospadias 3-Methylglutaconic aciduria Microvesicular hepatic steatosis Nonprogressive cerebellar ataxia Glutaric aciduria Testicular dysgenesis 3-Methylglutaric aciduria Generalized tonic-clonic seizures Penile hypospadias Normochromic microcytic anemia Hypertelorism Abnormal facial shape Visual impairment Wide nasal bridge Myopia Downslanted palpebral fissures Thin upper lip vermilion Wide mouth Abnormal cardiac septum morphology Central nervous system degeneration



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