Anemia, and Ptosis

Diseases related with Anemia and Ptosis

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


Top matches:

Low match CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I


Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I Is also known as cda type i|cda, type ib|cda type 1|congenital dyserythropoietic anemia type 1|cda i

Related symptoms:

  • Short stature
  • Ptosis
  • Anemia
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I

Low match GLYCOGEN STORAGE DISEASE DUE TO ALDOLASE A DEFICIENCY


Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease (see this term) characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported.

GLYCOGEN STORAGE DISEASE DUE TO ALDOLASE A DEFICIENCY Is also known as glycogenosis type xii|red cell aldolase deficiency|gsd type xii|gsd type 12|gsd xii|aldolase deficiency, red cell|aldoa deficiency|gsd due to aldolase a deficiency|glycogen storage disease type 12|glycogenosis type 12|glycogen storage disease type xii|gly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Muscle weakness
  • Ptosis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO ALDOLASE A DEFICIENCY

Low match PITUITARY APOPLEXY


The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA.

Related symptoms:

  • Ptosis
  • Hypertension
  • Fever
  • Fatigue
  • Headache


SOURCES: MESH ORPHANET MENDELIAN

More info about PITUITARY APOPLEXY

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Other less relevant matches:

Low match NEUROBLASTOMA


Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.

Related symptoms:

  • Ataxia
  • Neoplasm
  • Failure to thrive
  • Pain
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROBLASTOMA

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

Low match MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16


Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16

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 MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA


Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.

MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA Is also known as msa|mlasa|myopathy, lactic acidosis and sideroblastic anemia|mitochondrial myopathy and sideroblastic anemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA

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

Top 5 symptoms//phenotypes associated to Anemia and Ptosis

Symptoms // Phenotype % cases
Failure to thrive Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Acidosis Strabismus Spasticity Optic atrophy Ragged-red muscle fibers Global developmental delay Intellectual disability Ataxia Lactic acidosis Hypertrophic cardiomyopathy Pallor Increased serum lactate

Rare Symptoms - Less than 30% cases


Dysphagia Respiratory insufficiency due to muscle weakness Myoclonus Motor delay Hearing impairment Generalized hypotonia Sideroblastic anemia Peripheral neuropathy Hyperreflexia Exercise intolerance Gait disturbance Encephalopathy Dystonia Areflexia Progressive muscle weakness Scoliosis Microcephaly Increased CSF lactate Excessive daytime somnolence Pigmentary retinopathy Glaucoma Nystagmus Muscular hypotonia Micrognathia Ophthalmoplegia Macrocytic anemia Erythroid hyperplasia Jaundice Delayed puberty Growth delay Hypertension Fatigue Normochromic anemia Reduced visual acuity Splenomegaly Fever High palate Decreased activity of mitochondrial respiratory chain Decreased activity of the pyruvate dehydrogenase complex Focal T2 hyperintense basal ganglia lesion Cutaneous syndactyly Hypoglycemia Edema Kyphosis Short nose Long philtrum Progressive spastic paraplegia Stroke Short phalanx of finger Small nail EMG abnormality Abnormality of metabolism/homeostasis Leukodystrophy Emotional lability Congenital hypoplastic anemia Tetraplegia Sloping forehead Spastic tetraplegia Open mouth Decreased body weight Knee flexion contracture Drooling Adducted thumb Cortical gyral simplification Muscle fibrillation Increased total bilirubin Microcytic anemia Dysarthria Ventricular septal defect Intellectual disability, severe Poikilocytosis Anemia of inadequate production Apnea Abnormality of movement Progressive cerebellar ataxia Anisocytosis Reticulocytosis Hypertrichosis Hepatosplenomegaly Distichiasis Increased serum ferritin Decreased liver function Skeletal myopathy Proximal tubulopathy Delayed speech and language development Vomiting Proteinuria Developmental regression Abnormal pyramidal sign Generalized muscle weakness Bilateral sensorineural hearing impairment Aminoaciduria Generalized amyotrophy Spastic tetraparesis Exertional dyspnea Glycosuria Renal tubular dysfunction Hyperphosphaturia Progressive peripheral neuropathy Renal Fanconi syndrome Progressive leukoencephalopathy Diffuse hepatic steatosis Fatigable weakness of swallowing muscles Ketosis Abnormality of the coagulation cascade Mitochondrial myopathy Cardiomyopathy Stroke-like episode Hypochromic anemia Cytochrome C oxidase-negative muscle fibers Generalized limb muscle atrophy Chronic lactic acidosis Syndactyly Feeding difficulties Skeletal muscle atrophy Respiratory insufficiency Hypoplasia of the corpus callosum Respiratory failure Hyperammonemia Elevated hepatic transaminase Muscular hypotonia of the trunk Lethargy Cirrhosis Metabolic acidosis Ventricular hypertrophy Left ventricular hypertrophy Abnormality of the skeletal system Shock Tachypnea Abnormality of skin pigmentation Flexion contracture Telecanthus Abdominal pain Bitemporal hemianopia Abnormal kinetic perimetry test Thunderclap headache Abnormal caudate nucleus morphology Abnormal static automated perimetry test Neoplasm Headache Pain Diarrhea Weight loss Prolactin deficiency Cafe-au-lait spot Bone pain Abnormality of the thorax Neurofibromas Neuroblastoma Spinal cord compression Skin nodule Paraganglioma Ganglioneuroma Trigeminal neuralgia Mydriasis Horner syndrome Blurred vision Confusion Coma Growth hormone deficiency Hypotension Diplopia Hypergonadotropic hypogonadism Cranial nerve paralysis Hyponatremia Impotence Hypopituitarism Abnormality of the cerebrospinal fluid Growth hormone excess Increased circulating cortisol level Oligomenorrhea Prolactin excess Pituitary adenoma Photophobia Pituitary hypothyroidism Adrenocorticotropic hormone deficiency Central diabetes insipidus Galactorrhea Neoplasm of the nervous system Ganglioneuroblastoma Agenesis of corpus callosum Central scotoma Paraplegia Muscle cramps Progressive visual loss Horizontal nystagmus External ophthalmoplegia Short neck Abnormal electroretinogram Increased variability in muscle fiber diameter Progressive sensorineural hearing impairment Progressive external ophthalmoplegia Respiratory tract infection Episodic ataxia Abnormal auditory evoked potentials Red-green dyschromatopsia Tritanomaly Centrocecal scotoma Abnormal amplitude of pattern reversal visual evoked potentials Epicanthus Cryptorchidism Nausea and vomiting Congestive heart failure Abnormality of eye movement Spastic paraplegia Adrenal calcification Cognitive impairment Opsoclonus Abdominal mass Elevated urinary dopamine Elevated urinary catecholamines Elevated urinary homovanillic acid Elevated urinary vanillylmandelic acid Increased muscle fatiguability Sensorineural hearing impairment Cholecystitis Nonspherocytic hemolytic anemia Autistic behavior Normocytic anemia Spherocytosis Rhabdomyolysis Cholelithiasis Cerebellar atrophy Low posterior hairline Hemolytic anemia Visual loss Pes cavus Hypogonadism Skeletal muscle steatosis



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