Intellectual disability, and Acute lymphoblastic leukemia

Diseases related with Intellectual disability and Acute lymphoblastic leukemia

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

Top matches:

Severe congenital neutropenia-3 is an autosomal recessive bone marrow failure disorder characterized by low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia. In addition, patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities (summary by Boztug et al., 2010).The Swedish physician Rolf Kostmann (1956) described an autosomal recessive hematologic disorder, termed infantile agranulocytosis, with severe neutropenia with an absolute neutrophil count below 0.5 x 10(9)/l and early onset of severe bacterial infections. The disorder was later termed Kostmann syndrome (Skokowa et al., 2007). Lekstrom-Himes and Gallin (2000) discussed severe congenital neutropenia in a review of immunodeficiencies caused by defects in phagocytes.In addition to Kostmann agranulocytosis, recessively inherited neutropenic syndromes include congenital neutropenia with eosinophilia (OMIM ), Chediak-Higashi syndrome (OMIM ), and Fanconi pancytopenic syndrome (see {227650}).For a phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (OMIM ).

NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 Is also known as agranulocytosis, infantile|kostmann disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3

A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DE SANCTIS-CACCHIONE SYNDROME

Medium match WAGR SYNDROME

WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.

WAGR SYNDROME Is also known as del(11)(p13)|chromosome 11p13 deletion syndrome|wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|monosomy 11p13|deletion 11p13|wagr syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about WAGR SYNDROME

Other less relevant matches:

Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

Medium match WEAVER SYNDROME; WVS

Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (OMIM ), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010).The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity.Sotos syndrome (OMIM ), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (OMIM ) on chromosome 5q35.

WEAVER SYNDROME; WVS Is also known as weaver-smith syndrome|wss

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WEAVER SYNDROME; WVS

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability and Acute lymphoblastic leukemia

Symptoms // Phenotype % cases
Leukemia Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability and Acute lymphoblastic leukemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Micrognathia Seizures Cryptorchidism Hypertelorism Epicanthus Scoliosis Spasticity Ataxia Growth delay Immunodeficiency Nystagmus Small for gestational age Cataract Hypospadias Ambiguous genitalia Combined immunodeficiency Nephroblastoma Clinodactyly Low-set ears Generalized hypotonia Cognitive impairment Intrauterine growth retardation Rhabdomyosarcoma Macrocephaly Downslanted palpebral fissures Ventricular septal defect Cleft palate Cafe-au-lait spot Lymphoma Strabismus Abnormal facial shape Short neck Failure to thrive Telangiectasia Myelodysplasia Hearing impairment Cerebellar atrophy Abnormality of the nervous system Amenorrhea

Rare Symptoms - Less than 30% cases

Umbilical hernia Multiple cafe-au-lait spots Lymphopenia Polyhydramnios Abnormal heart morphology Recurrent pneumonia Edema Atrial septal defect Myeloid leukemia Sinusitis Otitis media Delayed speech and language development Neutropenia Generalized tonic-clonic seizures Ventriculomegaly Delayed skeletal maturation Abnormality of the hair Bronchiectasis Long philtrum Macrotia Prominent forehead Pes cavus Thrombocytopenia Kyphosis Retrognathia Frontal bossing Muscular hypotonia Premature chromatid separation Recurrent respiratory infections Pneumonia Skeletal muscle atrophy Sloping forehead Muscle weakness Hyperpigmentation of the skin Short nose Dandy-Walker malformation Acute leukemia Slurred speech Cardiomyopathy Abnormality of chromosome stability Microphthalmia Flexion contracture Primary amenorrhea Dysarthria Glaucoma Hypertrophic cardiomyopathy Corneal opacity B-cell lymphoma Ptosis Recurrent bronchitis Upslanted palpebral fissure Hearing abnormality Peripheral neuropathy Wide nose Renal neoplasm Mental deterioration High forehead Muscular dystrophy Choreoathetosis Cutaneous photosensitivity Sparse hair Defective B cell differentiation Premature graying of hair Pain IgE deficiency Talipes equinovarus Interosseus muscle atrophy Broad forehead Hernia Hypertonia Behavioral abnormality Abnormality of the pinna Resting tremor Inguinal hernia Camptodactyly Decreased antibody level in blood Joint laxity Abnormal cerebellum morphology Chorea Neonatal hypotonia Aplasia/Hypoplasia of the skin Progressive cerebellar ataxia Mandibular prognathia Hyperhidrosis Telangiectasia of the skin Chronic hepatitis Decreased/absent ankle reflexes Chromosome breakage Cellular immunodeficiency Chronic lymphatic leukemia Hypoplasia of the thymus Absent Achilles reflex Spinocerebellar tract degeneration Lymphoproliferative disorder Abnormality of the testis Breast carcinoma Recurrent lower respiratory tract infections Chronic myelogenous leukemia Severe combined immunodeficiency Hepatocellular carcinoma Hypopigmentation of hair Polycystic ovaries Spinal muscular atrophy Athetosis Hodgkin lymphoma IgA deficiency Prematurely aged appearance Conjunctival telangiectasia Cerebral palsy Immunoglobulin IgG2 deficiency Abnormality of the immune system Progressive spinal muscular atrophy Hepatitis Apraxia Non-Hodgkin lymphoma Mucosal telangiectasiae Aplasia/Hypoplasia of the thymus Type II diabetes mellitus Increased sensitivity to ionizing radiation Female hypogonadism Decreased proportion of CD4-positive T cells Reduced tendon reflexes Glucose intolerance Abnormal spermatogenesis Pancytopenia Neoplasm of the breast Intention tremor Limb ataxia Abnormal vertebral morphology Truncal ataxia Oculomotor apraxia Elevated alpha-fetoprotein Metatarsus adductus Platyspondyly Abnormality of the eye Coarctation of aorta Growth hormone deficiency Triangular face Ascites Bulbous nose Long face Abnormality of skin pigmentation Dolichocephaly Blepharophimosis Craniosynostosis Apnea Depressed nasal ridge Low-set, posteriorly rotated ears Deeply set eye Hypothyroidism Clinodactyly of the 5th finger Abnormality of cardiovascular system morphology Intellectual disability, mild Abnormality of the skeletal system Dysharmonic bone age Flared humeral metaphysis Abnormally low-pitched voice Short palpebral fissure Rhizomelia Flared femoral metaphysis Abnormality of immune system physiology Epidermoid cyst Increased nuchal translucency Abnormal aortic morphology Stomach cancer Subvalvular aortic stenosis Intestinal polyposis Abnormality of the upper limb Duodenal atresia Abnormality of the skull Abnormal lung lobation Atrioventricular canal defect Multicystic kidney dysplasia Colon cancer Aplasia/Hypoplasia of the cerebellum Abnormality of vision Sleep apnea Aplasia/Hypoplasia of the corpus callosum Aortic regurgitation Holoprosencephaly Microretrognathia Osteolysis Finger clinodactyly Limited knee extension Lumbar kyphosis Talipes Short ribs Overlapping toe Distal amyotrophy Flat occiput Radial deviation of finger Large hands Back pain Cutis laxa Accelerated skeletal maturation Coxa valga Pointed chin Hoarse voice Bilateral talipes equinovarus Joint contracture of the hand Lymphedema Tall stature Broad thumb Pachygyria Hypertrichosis Fine hair Overgrowth Nail dysplasia Round face Large for gestational age Limited elbow extension Sacrococcygeal teratoma Poor fine motor coordination Deep-set nails Horizontal eyebrow Vertebral wedging Short fourth metatarsal Prominent fingertip pads Galactorrhea Teratoma Thin nail Thoracolumbar kyphosis Calcaneovalgus deformity Dimple chin Absent septum pellucidum Broad philtrum Dilation of lateral ventricles Broad face Large earlobe Hydrocele testis Hypoplastic iliac wing Diastasis recti Down-sloping shoulders Prolactin excess Inverted nipples Secondary amenorrhea Polyneuropathy Cachexia Unsteady gait Abnormality of the cardiovascular system Abnormality of the sternum Pleural effusion Systemic lupus erythematosus Hyperextensible skin Relative macrocephaly Left ventricular hypertrophy Low posterior hairline Ventricular hypertrophy Webbed neck Graves disease Pulmonic stenosis Abnormal cardiac septum morphology Hyperkeratosis Patent ductus arteriosus Dysfunction of lateral corticospinal tracts Displacement of the external urethral meatus Streak ovary Aplasia/Hypoplasia of the iris Curly hair Chylothorax Peters anomaly Short 4th metacarpal Hyposegmentation of neutrophil nuclei Folate deficiency Median cleft palate Giant platelets Lower limb hypertonia Ectopic calcification Short 5th metacarpal Abnormality of chromosome segregation Upper limb undergrowth Palmoplantar cutis laxa Lower limb hyperreflexia Mild short stature Foot dorsiflexor weakness Gingival overgrowth Recurrent otitis media Eczema Skeletal dysplasia Polydactyly Abnormality of the dentition Abnormal vagina morphology Gonadoblastoma Wide nasal bridge Thrombocytosis Hyporeflexia Areflexia Sensorineural hearing impairment Agranulocytosis Tonsillitis Monocytosis Congenital neutropenia Granulocytopenia Acute myeloid leukemia Photophobia Increased antibody level in blood Eosinophilia Recurrent bacterial infections Bone marrow hypocellularity Meningitis Clumsiness Sepsis Hepatosplenomegaly Motor delay Severe short stature Progressive neurologic deterioration Abnormality of the uterus Renal insufficiency Hemihypertrophy Aniridia Abnormality of the genitourinary system Abnormality of the genital system Microcornea Everted lower lip vermilion Nephropathy Obesity Visual impairment Conjunctivitis Gonadal hypoplasia Defective DNA repair after ultraviolet radiation damage Entropion Olivopontocerebellar atrophy Poikiloderma Keratitis Ectropion Dermal atrophy Melanoma Short 3rd metacarpal Anteverted nares Abnormality of movement Medulloblastoma Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria B lymphocytopenia Decrease in T cell count Abnormal hair quantity Glioma Recurrent sinopulmonary infections Dysgammaglobulinemia Abnormal eyelid morphology Anal stenosis Neuroblastoma Autoimmune hemolytic anemia Abnormality of the musculature Freckling Long nose Non-midline cleft lip Abnormality of neuronal migration Penoscrotal hypospadias Malar prominence Deep philtrum Elevated hepatic transaminase Abnormality of eye movement Delayed puberty Neurological speech impairment Distal muscle weakness Abnormality of the liver Respiratory tract infection Anxiety Carcinoma Difficulty walking Mastoiditis Gait ataxia Diabetes mellitus Myoclonus Recurrent infections Dystonia Gait disturbance Tremor Anemia Progressive vitiligo Premature ovarian insufficiency Low anterior hairline Hydrocephalus Renal cyst Multiple renal cysts Severe intrauterine growth retardation Bifid scrotum Limb-girdle muscular dystrophy Sarcoma Intellectual disability, profound Oligohydramnios Generalized myoclonic seizures Severe global developmental delay Short sternum Postnatal growth retardation Feeding difficulties in infancy Micropenis Brachycephaly Posteriorly rotated ears Agenesis of corpus callosum Cerebellar hypoplasia Midface retrusion Malar flattening Mild microcephaly Triangular mouth Chronic diarrhea Anal atresia Recurrent urinary tract infections Abnormality of the face Choanal atresia Convex nasal ridge Prominent nose Neurodegeneration Hemolytic anemia Cleft upper lip Prominent nasal bridge Cerebral hypoplasia Attention deficit hyperactivity disorder Intellectual disability, moderate Hydronephrosis Respiratory failure Hyperactivity Diarrhea Respiratory insufficiency Hypodysplasia of the corpus callosum Embryonal rhabdomyosarcoma Vaginal neoplasm


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