Anemia, and Ptosis

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

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

SOURCES: OMIM ORPHANET MENDELIAN

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

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

SOURCES: MESH OMIM ORPHANET MENDELIAN

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.

• Ptosis
• Hypertension
• Fever
• Fatigue
• Headache

SOURCES: MESH ORPHANET MENDELIAN

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.

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

SOURCES: ORPHANET OMIM MENDELIAN

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+

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

SOURCES: OMIM MENDELIAN

Low match MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16

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

SOURCES: OMIM MENDELIAN

Low match LEIGH SYNDROME WITH LEUKODYSTROPHY

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

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

SOURCES: ORPHANET MENDELIAN

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

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

SOURCES: OMIM ORPHANET MENDELIAN

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 ).

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

SOURCES: OMIM MENDELIAN

Low match NON-PROGRESSIVE PREDOMINANTLY POSTERIOR CAVITATING LEUKOENCEPHALOPATHY WITH PERIPHERAL NEUROPATHY

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

SOURCES: ORPHANET MENDELIAN