Anemia, and Intellectual disability, mild

Diseases related with Anemia and Intellectual disability, mild

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


Top matches:

Medium 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

Medium 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

Medium match PAROXYSMAL EXERTION-INDUCED DYSKINESIA


Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.

PAROXYSMAL EXERTION-INDUCED DYSKINESIA Is also known as ped with or without epilepsy and/or hemolytic anemia|paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia|dyt18|dystonia 18|ped|paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PAROXYSMAL EXERTION-INDUCED DYSKINESIA

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Other less relevant matches:

Medium match HYPERLYSINEMIA


Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.

HYPERLYSINEMIA Is also known as hyperlysinemia type i|lysine alpha-ketoglutarate reductase deficiency|lysine:alpha-ketoglutarate reductase deficiency|l-lysine:nad-oxido-reductase deficiency|alpha-aminoadipic semialdehyde synthase deficiency|lysine intolerance

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERLYSINEMIA

Medium match BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD


BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).

BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD Is also known as macinnes syndrome|mcins

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

Medium match COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH


Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia is an inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. Folinic acid supplementation is an effective treatment (summary by Ramakrishnan et al., 2016).

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH Is also known as methylenetetrahydrofolate dehydrogenase 1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH

Medium match ACUTE INTERMITTENT PORPHYRIA


Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias (see this term). It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.

ACUTE INTERMITTENT PORPHYRIA Is also known as ups deficiency|porphyria, swedish type|pbgd deficiency|porphobilinogen deaminase deficiency|uroporphyrinogen synthase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Muscle weakness
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ACUTE INTERMITTENT PORPHYRIA

Medium match LESCH-NYHAN SYNDROME; LNS


LESCH-NYHAN SYNDROME; LNS Is also known as hprt deficiency, complete|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|hprt deficiency|hprt1 deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about LESCH-NYHAN SYNDROME; LNS

Medium match NAKAJO-NISHIMURA SYNDROME


Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.

NAKAJO-NISHIMURA SYNDROME Is also known as nns|secondary hypertrophic osteoperiostosis with pernio|amyotrophy-fat tissue anomaly syndrome

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Fever
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about NAKAJO-NISHIMURA SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Behavioral abnormality Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Vomiting Tremor Delayed speech and language development Muscle weakness Spasticity Dysarthria Renal insufficiency

Rare Symptoms - Less than 30% cases


Asthenia Muscular hypotonia Choreoathetosis Generalized-onset seizure Rigidity Chorea Coma Paresthesia Spastic tetraparesis Hepatosplenomegaly Short stature Hearing impairment Motor delay Nephropathy Aggressive behavior Abnormal pyramidal sign Arthralgia Hypertension Fever Hyperhidrosis Arrhythmia Arthritis Pain Recurrent urinary tract infections Irritability Megaloblastic anemia Macrocytic anemia Hematuria Microcephaly Acidosis Myoclonus Intellectual disability, moderate Skeletal muscle atrophy Gout Hyperuricemia Dysmetria Abnormality of movement Ataxia Dystonia Hyperreflexia Cognitive impairment Hallucinations Paraparesis Anorexia Cutaneous photosensitivity Psychosis Urinary incontinence Hyperlipidemia Apathy Cranial nerve paralysis Hyponatremia Agitation Insomnia Hepatocellular carcinoma Dysuria Lipoatrophy Ileus Urinary retention Diaphragmatic paralysis Microcytic anemia Abdominal distention Subcutaneous nodule Tachycardia Erythema nodosum Anisocytosis Hemolytic-uremic syndrome Folate deficiency Septic arthritis Decreased methylcobalamin Thiamine-responsive megaloblastic anemia Diarrhea Depressivity Clubbing of toes Constipation Abdominal pain Nausea Weight loss Clubbing of fingers Myalgia Carcinoma Episodic fever Anxiety Paralysis Lethargy Abnormal urinary color Stage 5 chronic kidney disease Nausea and vomiting Hypertensive crisis Delirium Splenomegaly Dyslexia Focal dystonia Testicular atrophy Facial grimacing Hyperuricosuria Excessive purine production Bladder stones Podagra Hepatomegaly Respiratory insufficiency Congestive heart failure Macrotia Opisthotonus Joint stiffness Skin rash Arthrogryposis multiplex congenita Arachnodactyly Lymphadenopathy Hyperostosis Macroglossia Prominent nose Cardiomegaly Thick lower lip vermilion Lipodystrophy Self-mutilation Athetosis Elevated erythrocyte sedimentation rate Hypertonia Psychotic episodes Abnormality of the face Respiratory paralysis Paralytic ileus Elevated urinary delta-aminolevulinic acid Red urine Acute episodes of neuropathic symptoms Scoliosis Increased antibody level in blood Flexion contracture Dysphagia Clinodactyly Proximal placement of thumb Clinodactyly of the 5th finger Right bundle branch block Hip dislocation Abnormality of extrapyramidal motor function Clumsiness Antinuclear antibody positivity Stereotypy Spastic gait Finger clinodactyly Cerebral palsy Self-injurious behavior Oral-pharyngeal dysphagia Nephrolithiasis Loss of consciousness Severe combined immunodeficiency Migraine without aura Hemiplegia Focal impaired awareness seizure Impulsivity Atonic seizures Hyperactive deep tendon reflexes Reticulocytosis Hand tremor Action tremor Episodic ataxia Torsion dystonia Abnormality of the head Limb dysmetria Absence seizures Paroxysmal dyskinesia Paroxysmal dystonia Jerky head movements Focal aware seizure Upper limb dysmetria Hypoglycorrhachia Generalized tonic-clonic seizures without focal onset Failure to thrive Hyperactivity Abnormality of the nervous system Poor speech Slurred speech Horizontal nystagmus Tetraparesis EEG abnormality Hemiplegia/hemiparesis Growth delay Visual impairment Intrauterine growth retardation Lactic acidosis Increased serum lactate Difficulty running Abnormality of the mitochondrion Nystagmus Cerebral atrophy Gait ataxia Mental deterioration Progressive microcephaly Generalized tonic-clonic seizures Falls Dyskinesia Hemolytic anemia Migraine Focal-onset seizure Specific learning disability Involuntary movements Frequent falls Lower limb spasticity Limb ataxia Aciduria Abnormality of the genitourinary system Thrombocytosis Immunodeficiency Thrombocytopenia Osteopenia Ophthalmoplegia Abnormal cerebellum morphology Bone pain Cachexia Hypersplenism Erlenmeyer flask deformity of the femurs Elevated serum acid phosphatase Increased cerebral lipofuscin Sensorineural hearing impairment Recurrent infections Bilateral conductive hearing impairment Pneumonia Pallor Autoimmunity Retinopathy Metabolic acidosis Decreased antibody level in blood Bilateral sensorineural hearing impairment Pancytopenia Lymphopenia Leukopenia Combined immunodeficiency Fatigue Increased number of teeth Optic nerve hypoplasia Depressed nasal bridge Ectopia lentis Short attention span Episodic vomiting Normochromic anemia Cystinuria Hyperlysinuria Oroticaciduria Hyperlysinemia Cleft palate Low-set ears High palate Epicanthus Flat occiput Brachycephaly Autism Conductive hearing impairment Abnormality of the pinna Autistic behavior Thick eyebrow Highly arched eyebrow Single transverse palmar crease Bifid uvula Long eyelashes Brittle hair Abnormality of the Leydig cells



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Wide nasal bridge and Bifid uvula, related diseases and genetic alterations Macrocephaly and Carious teeth, related diseases and genetic alterations Brachydactyly and Falls, related diseases and genetic alterations Nystagmus and Photophobia, related diseases and genetic alterations Sensorineural hearing impairment and Joint hypermobility, related diseases and genetic alterations

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