Anemia, and Spastic paraplegia

Diseases related with Anemia and Spastic paraplegia

In the following list you will find some of the most common rare diseases related to Anemia and Spastic paraplegia 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 HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN


Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.

HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN Is also known as cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly|hereditary cryohydrocytosis type 2|sdchc|stomatin-deficient cryohydrocytosis|chc type 2|glut1 deficiency syndrome with pseudohyperkalemia an

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN

Low match OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY


Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).

OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY Is also known as dominant optic atrophy plus syndrome|doa+

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY

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Other less relevant matches:

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 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 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 ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME


X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME Is also known as atr-x syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME

Low match EWING SARCOMA


Ewing's sarcoma is a malignant small round cell bone tumor with strong metastatic potential.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Weight loss


SOURCES: OMIM ORPHANET MENDELIAN

More info about EWING SARCOMA

Low match PRIMARY INTRAOSSEOUS VENOUS MALFORMATION


Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.

PRIMARY INTRAOSSEOUS VENOUS MALFORMATION Is also known as vmos|vascular malformation osseous|osseous venous malformation|intraosseous hemangioma|hemangioma, intraosseous

Related symptoms:

  • Anemia
  • Hernia
  • Visual loss
  • Proptosis
  • Umbilical hernia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PRIMARY INTRAOSSEOUS VENOUS MALFORMATION

Low match SITOSTEROLEMIA


Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.

SITOSTEROLEMIA Is also known as stsl|phytosterolemia

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Splenomegaly
  • Abdominal pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SITOSTEROLEMIA

Top 5 symptoms//phenotypes associated to Anemia and Spastic paraplegia

Symptoms // Phenotype % cases
Paraplegia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Dystonia Optic atrophy Hemolytic anemia Spasticity Ataxia Nystagmus Hearing impairment Acidosis Increased serum lactate Short stature Intellectual disability

Rare Symptoms - Less than 30% cases


Sensorineural hearing impairment Strabismus Stomatocytosis Dysarthria Ptosis Abnormality of movement Muscular hypotonia Visual loss Failure to thrive Peripheral neuropathy Cerebellar atrophy Encephalopathy Ophthalmoplegia Abnormality of eye movement Ragged-red muscle fibers Lactic acidosis Pain Cerebral cortical atrophy Cerebral atrophy Hypoplasia of the corpus callosum Generalized hypotonia Ventriculomegaly Spinal cord compression Hyperbilirubinemia Splenomegaly Brachydactyly Leukodystrophy Agenesis of corpus callosum Progressive spastic paraplegia Progressive neurologic deterioration Epicanthus Hypertelorism Decreased activity of the pyruvate dehydrogenase complex Hypertonia Babinski sign Poor coordination Subependymal cysts Lipoma Ambiguous genitalia Hypoplasia of penis Thick lower lip vermilion Depressed nasal ridge Periventricular cysts Aganglionic megacolon Tented upper lip vermilion Recurrent urinary tract infections Corpus callosum atrophy Hyperalaninemia Everted lower lip vermilion Abnormality of the face Increased serum pyruvate Poor fine motor coordination Encephalitis Severe lactic acidosis Macroglossia Projectile vomiting Flat face Blindness Midface retrusion Abnormality of the dentition Depressivity Clinodactyly of the 5th finger Dysphasia Constipation Autism Gastroesophageal reflux Hydronephrosis Anteverted nares Nausea and vomiting Talipes equinovarus Myopia Flexion contracture Cryptorchidism Telecanthus Abnormality of the kidney Feeding difficulties in infancy Poor gross motor coordination Behavioral abnormality Joint stiffness Self-injurious behavior Leukocytosis Male pseudohermaphroditism Coronary artery atherosclerosis Gingival bleeding Hiatus hernia Diastasis recti Facial hyperostosis Abdominal pain Arthralgia Arthritis Abnormality of the liver Abnormal bleeding Abnormality of the cardiovascular system Atherosclerosis Hypercholesterolemia Reticulocytosis Elevated alkaline phosphatase Xanthomatosis Impaired platelet aggregation Hypersplenism Increased mean platelet volume Macrothrombocytopenia Xanthelasma Giant platelets Premature coronary artery atherosclerosis Chronic hemolytic anemia Accelerated atherosclerosis Abnormality of the integument Episodic hemolytic anemia Tuberous xanthoma Precocious puberty Increased intracranial pressure Volvulus Partial agenesis of the corpus callosum Profound global developmental delay Abnormal hemoglobin U-Shaped upper lip vermilion Abnormality of fontanelles Abnormality of the male genitalia Neoplasm Fever Weight loss Paralysis Leukemia Lymphoma Sarcoma Pleural effusion Myeloid leukemia Hemangioma Neuroblastoma Acute lymphoblastic leukemia Meningioma Chronic myelogenous leukemia Burkitt lymphoma Primitive neuroectodermal tumor Ewing sarcoma Peripheral neuroepithelioma Neoplasm of the peripheral nervous system Hernia Proptosis Umbilical hernia Facial asymmetry Difficulty running Emotional lability Spastic diplegia Areflexia Hyperkalemia Broad neck Conjugated hyperbilirubinemia Hemoglobinuria Zonular cataract Hypoglycorrhachia Muscle weakness Cognitive impairment Gait disturbance Dysphagia Myopathy Pes cavus Inability to walk Hypogonadism Reduced visual acuity Autistic behavior Muscle cramps Progressive visual loss Horizontal nystagmus External ophthalmoplegia Abnormal electroretinogram Increased variability in muscle fiber diameter Progressive sensorineural hearing impairment Macrocytic anemia Delayed myelination Hepatosplenomegaly Progressive external ophthalmoplegia Ankle clonus Tremor Rigidity Abnormality of the nervous system Developmental regression Skin rash Falls Cerebral calcification Frequent falls Lower limb spasticity Clonus Toe walking Freckling Jaundice Loss of speech Generalized dystonia Moderate global developmental delay Loss of ability to walk Limb tremor Cataract Hepatomegaly Macrocephaly Hydrocephalus Absent speech Macrotia Central scotoma Episodic ataxia Trigonocephaly Vomiting Hypertrophic cardiomyopathy Apnea Progressive cerebellar ataxia Pigmentary retinopathy Hypertrichosis Increased CSF lactate Decreased activity of mitochondrial respiratory chain Focal T2 hyperintense basal ganglia lesion High palate Respiratory insufficiency Respiratory distress Dilatation Ventricular septal defect Pectus excavatum Thin upper lip vermilion Neonatal hypotonia Muscular hypotonia of the trunk Severe global developmental delay Unsteady gait Metabolic acidosis Coma Spastic tetraplegia Tetraparesis Broad-based gait Intellectual disability, severe Epilepsia partialis continua Abnormal auditory evoked potentials EEG abnormality Red-green dyschromatopsia Tritanomaly Centrocecal scotoma Abnormal amplitude of pattern reversal visual evoked potentials Growth delay Feeding difficulties Delayed speech and language development Visual impairment Wide nasal bridge Thrombocytopenia Myoclonus Generalized myoclonic seizures Mitochondrial encephalopathy Gliosis Epileptic encephalopathy Neuronal loss in central nervous system Hypsarrhythmia Status epilepticus Aminoaciduria Atrophy/Degeneration affecting the brainstem Diffuse cerebral atrophy Abnormality of the mitochondrion Generalized aminoaciduria Type 2 muscle fiber atrophy Hyperapobetalipoproteinemia



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Mendelian tool does not provide medical advice. It is intended for informational purposes only. It is not a substitute for professional medical advice, diagnosis or treatment. It does not diagnose, it produces a ranked list of suspected genes which provide assistance for rare hereditary disease cases. Patients should discuss their findings with their healthcare provider
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