Intellectual disability, and Anemia

Low match VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0 Is also known as complete deficiency of methylmalonyl-coa mutase|vitamin b12-unresponsive methylmalonic aciduria type mut0

• Intellectual disability
• Global developmental delay
• Growth delay
• Muscular hypotonia
• Anemia

SOURCES: ORPHANET MENDELIAN

Low match FORMIMINOGLUTAMIC ACIDURIA

Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia.

FORMIMINOGLUTAMIC ACIDURIA Is also known as formiminotransferase cyclodeaminase deficiency|formiminoglutamic aciduria|figlu-uria|ftcd deficiency|formiminotransferase deficiency|glutamate formiminotransferase deficiency

• Intellectual disability
• Global developmental delay
• Growth delay
• Anemia
• Aciduria

SOURCES: ORPHANET MESH OMIM MENDELIAN

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP R; FANCR

• Intellectual disability
• Microcephaly
• Growth delay
• Anemia
• Hydrocephalus

SOURCES: OMIM MENDELIAN

Low match IRIDA SYNDROME

IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.

IRIDA SYNDROME Is also known as anemia, hypochromic microcytic, with defect in iron metabolism|iron-refractory iron deficiency anemia|pseudo-iron-deficiency anemia|iron-handling disorder, hereditary

• Intellectual disability
• Anemia
• Peripheral neuropathy
• Fatigue
• Hyperkeratosis

SOURCES: ORPHANET MESH OMIM MENDELIAN

Low match LESCH-NYHAN SYNDROME

Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.

LESCH-NYHAN SYNDROME Is also known as hypoxanthine guanine phosphoribosyltransferase deficiency, grade iv|hypoxanthine guanine phosphoribosyltransferase complete deficiency|hprt complete deficiency|hprt deficiency grade iv

• Spasticity
• Anemia
• Behavioral abnormality
• Intellectual disability, mild
• Renal insufficiency

SOURCES: ORPHANET MENDELIAN

Low match GROWTH AND DEVELOPMENTAL DELAY-HYPOTONIA-VISION IMPAIRMENT-LACTIC ACIDOSIS SYNDROME

Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additonal features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability.

• Intellectual disability
• Generalized hypotonia
• Growth delay
• Anemia
• Delayed speech and language development

SOURCES: OMIM ORPHANET MENDELIAN

Low match ALPHA-THALASSEMIA-MYELODYSPLASTIC SYNDROME

Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms).

ALPHA-THALASSEMIA-MYELODYSPLASTIC SYNDROME Is also known as acquired hbh disease|acquired hemoglobin h disease|atmds|hemoglobin h disease, acquired

• Intellectual disability
• Anemia
• Fatigue
• Splenomegaly
• Immunodeficiency

SOURCES: ORPHANET MESH OMIM MENDELIAN

Low match DEAFNESS-INFERTILITY SYNDROME

Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.

DEAFNESS-INFERTILITY SYNDROME Is also known as deafness, sensorineural, and male infertility|chromosome 15q15.3 deletion syndrome|dis

• Intellectual disability
• Short stature
• Hearing impairment
• Sensorineural hearing impairment
• Low-set ears

SOURCES: ORPHANET MESH OMIM MENDELIAN

Low match HEMOLYTIC ANEMIA DUE TO GLUCOPHOSPHATE ISOMERASE DEFICIENCY

Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.

• Intellectual disability
• Ataxia
• Muscle weakness
• Anemia
• Edema

SOURCES: OMIM ORPHANET MENDELIAN

Low match CONGENITAL INTRINSIC FACTOR DEFICIENCY

Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.

CONGENITAL INTRINSIC FACTOR DEFICIENCY Is also known as intrinsic factor deficiency|ifd|hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency|congenital pernicious anemia|gastric intrinsic factor deficiency|pernicious anemia, congenital, due to defect of intrinsic factor

• Intellectual disability
• Failure to thrive
• Anemia
• Fatigue
• Abnormality of metabolism/homeostasis

SOURCES: ORPHANET OMIM MENDELIAN