Intellectual disability, and Anemia

Diseases related with Intellectual disability and Anemia

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


Top matches:

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

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

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

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FORMIMINOGLUTAMIC ACIDURIA

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP R; FANCR


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP R; FANCR

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Other less relevant matches:

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

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about IRIDA SYNDROME

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

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about LESCH-NYHAN SYNDROME

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.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GROWTH AND DEVELOPMENTAL DELAY-HYPOTONIA-VISION IMPAIRMENT-LACTIC ACIDOSIS SYNDROME

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

Related symptoms:

  • Intellectual disability
  • Anemia
  • Fatigue
  • Splenomegaly
  • Immunodeficiency


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-MYELODYSPLASTIC SYNDROME

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

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DEAFNESS-INFERTILITY SYNDROME

Low match HEMOLYTIC ANEMIA DUE TO GLUCOPHOSPHATE ISOMERASE DEFICIENCY


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

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOLYTIC ANEMIA DUE TO GLUCOPHOSPHATE ISOMERASE DEFICIENCY

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRINSIC FACTOR DEFICIENCY

Top 5 symptoms//phenotypes associated to Intellectual disability and Anemia

Symptoms // Phenotype % cases
Growth delay Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Neutropenia Rare - less than 30% cases
Malabsorption Rare - less than 30% cases
Splenomegaly Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Hypochromic microcytic anemia Jaundice Intellectual disability, mild Megaloblastic anemia Hemiplegia/hemiparesis Microcytic anemia Macrocytic anemia Global developmental delay Thrombocytopenia Renal insufficiency Acute leukemia Narrow palpebral fissure Congenital hypoplastic anemia Anemia of inadequate production Dyspnea Male infertility Bruising susceptibility Abnormal bleeding Myelodysplasia Progressive sensorineural hearing impairment Azoospermia Synophrys Bilateral sensorineural hearing impairment Infertility Abnormal hemoglobin Prominent nasal bridge Brachydactyly High palate Abnormal spermatogenesis Sensorineural hearing impairment Hearing impairment Short stature Hemoglobin H Reduced alpha/beta synthesis ratio Low-set ears Muscle weakness Reduced sperm motility Abnormality of metabolism/homeostasis Absence of intrinsic factor Malabsorption of Vitamin B12 Abnormality of the stomach Increased mean corpuscular volume Abnormality of the immune system Leukopenia Pancytopenia Sensory impairment Paresthesia Confusion Proteinuria Depressivity Failure to thrive Moderate hearing impairment Impaired neutrophil bactericidal activity Spontaneous hemolytic crises Decreased glucosephosphate isomerase activity Pigment gallstones Nonspherocytic hemolytic anemia Cholecystitis Sensory ataxia Cholelithiasis Hydrops fetalis Hemolytic anemia Edema Ataxia Prominent eyelashes Immunodeficiency Acidosis Abnormality of the mitochondrion Renal tubular dysfunction Chromosome breakage Bone marrow hypocellularity Anal atresia Hydrocephalus Microcephaly Positive ferric chloride test Hypersegmentation of neutrophil nuclei Megaloblastic bone marrow Folate deficiency Aminoaciduria Aciduria Hyperammonemia Hyperkeratosis Pancreatitis Choreoathetosis Chorea Sepsis Coma Nausea and vomiting Lethargy Dystonia Respiratory distress Optic atrophy Hepatomegaly Muscular hypotonia Peripheral neuropathy Pallor Difficulty running Abnormality of movement Increased serum lactate Lactic acidosis Dysmetria Tremor Skeletal muscle atrophy Intrauterine growth retardation Visual impairment Delayed speech and language development Generalized hypotonia Gout Hyperuricemia Hematuria Intellectual disability, moderate Ichthyosis Behavioral abnormality Spasticity Elevated hepcidin level Decreased serum iron Hypocupremia Decreased mean corpuscular volume Poikilocytosis Anisocytosis Intrahepatic cholestasis Reticulocytosis Iron deficiency anemia Abnormal intestine morphology Megaloblastic erythroid hyperplasia



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