Intellectual disability, severe, and Myelodysplasia

Diseases related with Intellectual disability, severe and Myelodysplasia

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


Top matches:

Medium 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

Medium match NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3


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

Medium match LIG4 SYNDROME


LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIG4 SYNDROME

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Other less relevant matches:

Medium match 3-METHYLGLUTACONIC ACIDURIA TYPE 7


3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections (summary by Wortmann et al., 2015 and Saunders et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (OMIM ).

3-METHYLGLUTACONIC ACIDURIA TYPE 7 Is also known as 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome|mga7|mgca7|3-methylglutaconic aciduria, type vii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 7

Medium match RETINOBLASTOMA; RB1


Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Medium match SHWACHMAN-DIAMOND SYNDROME


Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenital

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME

Medium match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1


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

Medium match NOONAN SYNDROME WITH MULTIPLE LENTIGINES


Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

Medium match DIAMOND-BLACKFAN ANEMIA 1; DBA1


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). Genetic Heterogeneity of Diamond-Blackfan AnemiaA locus for DBA (DBA2 ) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (OMIM ), caused by mutation in the RPS24 gene (OMIM ) on 10q22; DBA4 (OMIM ), caused by mutation in the RPS17 gene (OMIM ) on 15q; DBA5 (OMIM ), caused by mutation in the RPL35A gene (OMIM ) on 3q29; DBA6 (OMIM ), caused by mutation in the RPL5 gene (OMIM ) on 1p22.1; DBA7 (OMIM ), caused by mutation in the RPL11 gene (OMIM ) on 1p36; DBA8 (OMIM ), caused by mutation in the RPS7 gene (OMIM ) on 2p25; DBA9 (OMIM ), caused by mutation in the RPS10 gene (OMIM ) on 6p; DBA10 (OMIM ), caused by mutation in the RPS26 (OMIM ) gene on 12q; DBA11 (OMIM ), caused by mutation in the RPL26 gene (OMIM ) on 17p13; DBA12 (OMIM ), caused by mutation in the RPL15 gene (OMIM ) on 3p24; DBA13 (OMIM ), caused by mutation in the RPS29 gene (OMIM ) on 14q; DBA14 (OMIM ), caused by mutation in the TSR2 gene (OMIM ) on Xp11; DBA15 (OMIM ), caused by mutation in the RPS28 gene (OMIM ) on 19p13; DBA16 (OMIM ), caused by mutation in the RPL27 gene (OMIM ) on chromosome 17q21; and DBA17 (OMIM ), caused by mutation in the RPS27 gene (OMIM ) on chromosome 1q21.Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients.In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

DIAMOND-BLACKFAN ANEMIA 1; DBA1 Is also known as red cell aplasia, pure, hereditary|anemia, congenital erythroid hypoplastic|dba|blackfan-diamond syndrome|anemia, congenital hypoplastic, of blackfan and diamond|bds|erythrogenesis imperfecta|aase-smith syndrome ii|aregenerative anemia, chronic congenital

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1

Medium match SECKEL SYNDROME 1; SCKL1


Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997). Genetic Heterogeneity of Seckel SyndromeOther forms of Seckel syndrome include SCKL2 (OMIM ), caused by mutation in the RBBP8 gene (OMIM ) on chromosome 18q11; SCKL4 (OMIM ), caused by mutation in the CENPJ gene (OMIM ) on chromosome 13q12; SCKL5 (OMIM ), caused by mutation in the CEP152 gene (OMIM ) on chromosome 15q21; SCKL6 (OMIM ), caused by mutation in the CEP63 gene (OMIM ) on chromosome 3q22; SCKL7 (OMIM ), caused by mutation in the NIN gene (OMIM ) on chromosome 14q22; SCKL8 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q21; SCKL9 (OMIM ), caused by mutation in the TRAIP gene (OMIM ) on chromosome 3p21; and SCKL10 (OMIM ), caused by mutation in the NSMCE2 gene (OMIM ) on chromosome 8q24.The report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by Kilinc et al. (2003) was found to be in error; see HISTORY.

SECKEL SYNDROME 1; SCKL1 Is also known as bird-headed dwarfism|nanocephalic dwarfism|sckl|microcephalic primordial dwarfism i|seckel-type dwarfism

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 1; SCKL1

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Myelodysplasia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Leukemia Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Acute myeloid leukemia

Uncommon Symptoms - Between 30% and 50% cases


Seizures Myeloid leukemia Neutropenia Anemia Short stature Micrognathia Cryptorchidism Immunodeficiency Intrauterine growth retardation Pancytopenia Cleft palate Thrombocytopenia Generalized hypotonia Scoliosis Low-set ears Abnormal facial shape Brachycephaly Upslanted palpebral fissure Abnormality of the skeletal system Wide nasal bridge Cataract Strabismus Delayed skeletal maturation Neoplasm Small for gestational age Short neck Hypertelorism Recurrent infections Hypospadias Bone marrow hypocellularity Acute leukemia Posteriorly rotated ears Acute monocytic leukemia Hearing impairment

Rare Symptoms - Less than 30% cases


Nystagmus Severe intrauterine growth retardation Clinodactyly Ventricular septal defect Combined immunodeficiency Failure to thrive Persistence of hemoglobin F Downslanted palpebral fissures Pulmonic stenosis Intellectual disability, mild High palate Narrow chest Flexion contracture Hydrocephalus Glaucoma Aplastic anemia Sarcoma Webbed neck Malar flattening Hyperactivity 11 pairs of ribs Vomiting Fatigue Pectus carinatum Neonatal hypotonia Triangular face Postnatal growth retardation Specific learning disability Clinodactyly of the 5th finger Recurrent bacterial infections Thrombocytosis Acute lymphoblastic leukemia Anemia of inadequate production Congenital neutropenia Osteosarcoma Chromosome breakage Sepsis Retrognathia Epicanthus Abnormality of the nervous system Hepatomegaly Cerebellar atrophy Depressed nasal bridge Ataxia Lymphoma Spasticity Malabsorption Hypothyroidism Curly hair Abnormal mitral valve morphology Neuroblastoma Bundle branch block Right ventricular hypertrophy Aplasia/Hypoplasia of the abdominal wall musculature Abnormal aortic valve morphology Shield chest External genital hypoplasia Atrioventricular canal defect Abnormality of the ear Multiple cafe-au-lait spots Wolff-Parkinson-White syndrome Decreased fertility Premature skin wrinkling Freckling Redundant neck skin Sprengel anomaly Severe sensorineural hearing impairment Abnormality of the kidney Bilateral cryptorchidism Premature chromatid separation Abnormality of cardiovascular system morphology Dilatation Cognitive impairment Ptosis Muscular hypotonia Sensorineural hearing impairment Hypodysplasia of the corpus callosum Embryonal rhabdomyosarcoma Cerebral hypoplasia Arrhythmia Triangular mouth Rhabdomyosarcoma Short sternum Mild microcephaly Multiple renal cysts Bifid scrotum Nephroblastoma Limb-girdle muscular dystrophy Hyperpigmentation of the skin Pectus excavatum Hyperkeratosis Melanocytic nevus Abnormality of the genital system Abnormality of the voice Hyperextensible skin Melanoma Spina bifida occulta Scapular winging Cafe-au-lait spot Left ventricular hypertrophy Subcutaneous nodule Abnormality of the face Myocardial infarction Mandibular prognathia Mitral valve prolapse Tetralogy of Fallot Nevus Thick vermilion border Joint hyperflexibility Delayed puberty Abnormality of the pulmonary artery Low-set, posteriorly rotated ears Hypertrophic cardiomyopathy Abnormal localization of kidney Hydrops fetalis Excessive wrinkled skin Synophrys Convex nasal ridge Prominent nose Dental malocclusion Tapered finger Single transverse palmar crease Thick eyebrow Talipes Facial asymmetry Hip dislocation Cerebellar vermis hypoplasia Microtia Blepharophimosis Abnormality of the pinna Hyperlordosis Intellectual disability, moderate Pes planus Severe short stature Pes cavus Kyphosis Sloping forehead Pachygyria Hypoplastic sacral vertebrae Abnormally large globe Large basal ganglia Hypoplasia of proximal radius Abnormal finger flexion creases Ivory epiphyses Small anterior fontanelle Lumbar scoliosis Selective tooth agenesis Abnormal cortical gyration Cone-shaped epiphyses of the phalanges of the hand Hypoplasia of dental enamel Proportionate short stature Dislocated radial head Clitoral hypertrophy Patent foramen ovale Sandal gap Narrow palate Elbow flexion contracture Narrow face Dental crowding Hypoplasia of the corpus callosum Hypoplastic coccygeal vertebrae Multiple lentigines Abnormal cardiac septum morphology Short thumb Depressed nasal ridge Coarctation of aorta Premature birth Nausea Cleft upper lip Nausea and vomiting Lethargy Pallor Abnormal dermatoglyphics Cleft lip Abnormal heart morphology Congestive heart failure Edema Atrial septal defect Numerous nevi Hypoplasia of the ovary Abnormal pulmonary valve morphology Abnormal endocardium morphology Intellectual disability, profound Hypoplasia of the radius Transient erythroblastopenia Unilateral cleft lip Bifid thoracic vertebrae Elevated red cell adenosine deaminase activity Hypoplastic anemia Branchial cyst Erythroid hypoplasia Partial duplication of thumb phalanx Everted upper lip vermilion Congenital hypoplastic anemia Parietal foramina Reticulocytopenia Abnormality of the hand Increased mean corpuscular volume Hypoplastic ilia Macrocytic anemia Absent thumb Vertebral fusion Colon cancer Congenital glaucoma Delayed cranial suture closure Triphalangeal thumb Primary amenorrhea Anterior rib cupping Ambiguous genitalia Abnormality of movement Progressive neurologic deterioration Abnormality of extrapyramidal motor function Neuronal loss in central nervous system Aciduria Increased serum lactate Brain atrophy Gliosis Attention deficit hyperactivity disorder Opisthotonus Abnormal pyramidal sign Developmental regression Rigidity Respiratory failure Myoclonus Encephalopathy Cerebral atrophy Dystonia Choreoathetosis Progressive encephalopathy Dysphagia Proptosis Neurofibromas Increased intracranial pressure Anorexia Postural instability Abnormality of skin pigmentation Skin rash Carcinoma Weight loss Dyslexia Visual loss Headache Blindness Visual impairment Pain 3-Methylglutaconic aciduria Dysgraphia Upper motor neuron dysfunction Cardiomyopathy Feeding difficulties Uveitis Motor delay Increased antibody level in blood Eosinophilia Meningitis Clumsiness Otitis media Hepatosplenomegaly Peripheral neuropathy Hemoglobin H Monocytosis Reduced alpha/beta synthesis ratio Abnormal hemoglobin Hypochromic microcytic anemia Microcytic anemia Abnormal bleeding Bruising susceptibility Dyspnea Splenomegaly Granulocytopenia Tonsillitis Large beaked nose Low anterior hairline Bird-like facies Abnormality of bone marrow cell morphology Abnormality of chromosome stability Severe combined immunodeficiency Biparietal narrowing Telangiectasia of the skin Leukocytosis Psoriasiform dermatitis Telangiectasia Agranulocytosis Cutaneous photosensitivity Type II diabetes mellitus Hypoplasia of penis Thin vermilion border Lymphadenopathy Erythema Telecanthus Delayed speech and language development Cellulitis Astrocytoma Oligohydramnios Recurrent aphthous stomatitis Metaphyseal dysostosis Myocardial necrosis Proximal femoral metaphyseal irregularity Enlargement of the costochondral junction Paroxysmal nocturnal hemoglobinuria Metaphyseal sclerosis Metaphyseal chondrodysplasia Recurrent viral infections Narrow sacroiliac notch Ovoid vertebral bodies Exocrine pancreatic insufficiency Multiple lipomas Steatorrhea Short thorax Neonatal respiratory distress Metaphyseal widening Leukopenia Proximal femoral epiphysiolysis Irregular ossification at anterior rib ends Nephrocalcinosis Muscular dystrophy Amenorrhea Dandy-Walker malformation Generalized myoclonic seizures Renal cyst Wide nose Generalized tonic-clonic seizures Severe global developmental delay Feeding difficulties in infancy Ventriculomegaly High forehead Micropenis Agenesis of corpus callosum Cerebellar hypoplasia Midface retrusion Long philtrum Short nose Anteverted nares Coxa vara Type I diabetes mellitus Buphthalmos Glioblastoma multiforme Neoplasm of the eye Sebaceous gland carcinoma Liposarcoma Histiocytoma Vitritis Burkitt lymphoma Fibrosarcoma Malar rash Ewing sarcoma Leukocoria Soft tissue sarcoma Leiomyosarcoma Anisocoria Ocular pain Vitreous hemorrhage Retinoblastoma Inflammatory abnormality of the eye Hyphema Pineal cyst Short ribs Respiratory tract infection Decreased liver function Abnormality of the metaphysis Apraxia Eczema Microdontia Generalized muscle weakness Ichthyosis Carious teeth Elevated hepatic transaminase Iris neovascularization Skeletal dysplasia Osteopenia Respiratory distress Gait disturbance Neuroblastic tumors Pineoblastoma Retinal calcification Pinealoma Hypoplasia of proximal fibula



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