Flexion contracture, and Myelodysplasia

Diseases related with Flexion contracture and Myelodysplasia

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

Top matches:

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

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

Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia).

SYSTEMIC MASTOCYTOSIS WITH AN ASSOCIATED CLONAL HEMATOLOGIC NON-MAST CELL LINEAGE DISEASE Is also known as systemic mastocytosis with associated hematologic neoplasm|sm-ahnmd|sm-ahn

Related symptoms:

  • Eosinophilia
  • Myelodysplasia
  • Acute myeloid leukemia
  • Chronic myelogenous leukemia
  • Non-Hodgkin lymphoma


SOURCES: ORPHANET MENDELIAN

More info about SYSTEMIC MASTOCYTOSIS WITH AN ASSOCIATED CLONAL HEMATOLOGIC NON-MAST CELL LINEAGE DISEASE

Other less relevant matches:

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

PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM Is also known as platelet disorder, aspirin-like|thrombocytopenia, familial, with propensity to acute myelogenous leukemia|fpd/aml

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Hernia
  • Hypospadias
  • Umbilical hernia


SOURCES: OMIM MENDELIAN

More info about PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM

Monocytopenia with susceptibility to infections is a rare, genetic, primary immunodeficiency disorder characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.

MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS Is also known as dendritic cell, monocyte, b and nk lymphoid deficiency|dcml|dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency|monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia|monoc

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia
  • Hypertension
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS

LEUKEMIA, ACUTE MYELOID; AML Is also known as leukemia, acute myelogenous

Related symptoms:

  • Seizures
  • Neoplasm
  • Pain
  • Anemia
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEUKEMIA, ACUTE MYELOID; AML

Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.

INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS Is also known as fad1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS

Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.

POIKILODERMA WITH NEUTROPENIA Is also known as poikiloderma with neutropenia, clericuzio type|poikiloderma with neutropenia, clericuzio-type

Related symptoms:

  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about POIKILODERMA WITH NEUTROPENIA

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

Top 5 symptoms//phenotypes associated to Flexion contracture and Myelodysplasia

Symptoms // Phenotype % cases
Acute myeloid leukemia Very Common - Between 80% and 100% cases
Leukemia Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Myeloid leukemia Common - Between 50% and 80% cases
Pancytopenia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Flexion contracture and Myelodysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Neutropenia Respiratory failure Recurrent infections Short stature Thrombocytopenia Bone marrow hypocellularity Growth delay Microcephaly Fatigue Intrauterine growth retardation Neoplasm Leukopenia Seizures Acute leukemia Bruising susceptibility Intellectual disability Acute monocytic leukemia

Rare Symptoms - Less than 30% cases

11 pairs of ribs Pneumonia Strabismus Cleft palate Cerebellar atrophy High palate Sensorineural hearing impairment Downslanted palpebral fissures Hypospadias Ventricular septal defect Immunodeficiency Edema Hypertelorism Otitis media Recurrent otitis media Retrognathia Lymphedema Pallor Recurrent respiratory infections Nausea and vomiting Abnormal facial shape Verrucae Short thumb Webbed neck Failure to thrive Micrognathia Tapered finger Osteosarcoma Lymphadenopathy Chromosome breakage Hypothyroidism Hyperactivity Scarring Weight loss Hearing impairment Aplastic anemia Splenomegaly Chronic myelomonocytic leukemia Fever Prolonged bleeding time Neuroblastoma Cataract B lymphocytopenia Coma Monocytopenia Recurrent mycobacterium avium complex infections Abnormal natural killer cell morphology Confusion Pain Recurrent fungal infections Respiratory distress Hepatosplenomegaly Dyspnea Panniculitis Alveolar proteinosis Severe viral infections Headache Nephrotic syndrome Recurrent viral infections Epistaxis Small anterior fontanelle Ivory epiphyses Abnormal finger flexion creases Hypoplasia of proximal radius Large basal ganglia Hypoplasia of proximal fibula Hernia Umbilical hernia Macronodular cirrhosis Abnormal bleeding Lymphoma Purpura Severe sensorineural hearing impairment Acute lymphoblastic leukemia Erysipelas Impaired platelet aggregation Refractory anemia Granulocytopenia Hypertension Decreased antibody level in blood Menorrhagia Pulmonary arterial hypertension Lymphopenia Spontaneous abortion Venous thrombosis Sarcoma Migraine Petechiae Chronic otitis media Nail dystrophy Carious teeth Palmoplantar keratoderma Asthma Hypercoagulability Cellulitis Leukocytosis Eczema Cutaneous photosensitivity Recurrent pneumonia Conjunctivitis Increased antibody level in blood Atrophic scars Intracranial hemorrhage Cough Wheezing Hypotelorism Blepharitis Poikiloderma Subungual hyperkeratosis Epicanthus Hepatomegaly Respiratory insufficiency Syndactyly Visual loss Neurological speech impairment Vertigo Cirrhosis Hemolytic anemia Abnormality of the optic nerve Skin rash Gingival bleeding Breast carcinoma Ecchymosis Night sweats Chronic pain Acute promyelocytic leukemia Hydrocephalus Microphthalmia Corneal opacity Anal atresia Hematuria Esotropia Renal hypoplasia Cafe-au-lait spot Horseshoe kidney Anteriorly placed anus Respiratory tract infection Lipoma Peters anomaly Medulloblastoma Lumbar scoliosis T-cell acute lymphoblastic leukemias Depressed nasal bridge Myeloproliferative disorder Frontal bossing Short nose Malar flattening Midface retrusion Alopecia Hyperkeratosis Mandibular prognathia Chromosomal breakage induced by crosslinking agents Dental malocclusion Selective tooth agenesis Depressed nasal ridge Atrial septal defect Vomiting Congestive heart failure Abnormal heart morphology Glaucoma Cleft lip Abnormal cardiac septum morphology Lethargy Narrow chest Cleft upper lip Nausea Premature birth Coarctation of aorta Hydrops fetalis Congenital neutropenia Abnormal dermatoglyphics Hypoplasia of the radius Abnormality of the hand Triphalangeal thumb Delayed cranial suture closure Congenital glaucoma Colon cancer Vertebral fusion Absent thumb Macrocytic anemia Thrombocytosis Hypoplastic ilia Increased mean corpuscular volume Anemia of inadequate production Short neck 3-Methylglutaconic aciduria Unilateral cleft lip Developmental regression Global developmental delay Generalized hypotonia Ataxia Spasticity Feeding difficulties Dysphagia Cardiomyopathy Dystonia Cerebral atrophy Encephalopathy Myoclonus Rigidity Neonatal hypotonia Abnormal pyramidal sign Dysgraphia Attention deficit hyperactivity disorder Abnormality of movement Gliosis Brain atrophy Increased serum lactate Aciduria Neuronal loss in central nervous system Abnormality of extrapyramidal motor function Progressive neurologic deterioration Choreoathetosis Opisthotonus Progressive encephalopathy Dyslexia Upper motor neuron dysfunction Reticulocytopenia Parietal foramina Abnormal cortical gyration Sloping forehead Blepharophimosis Microtia Small for gestational age Hip dislocation Synophrys Pulmonic stenosis Facial asymmetry Talipes Thick eyebrow Single transverse palmar crease Triangular face Prominent nose Convex nasal ridge Cerebellar vermis hypoplasia Abnormality of the pinna Pachygyria Hypoplasia of dental enamel Dental crowding Narrow face Elbow flexion contracture Narrow palate Sandal gap Patent foramen ovale Clitoral hypertrophy Dislocated radial head Proportionate short stature Severe intrauterine growth retardation Cone-shaped epiphyses of the phalanges of the hand Abnormally large globe Postnatal growth retardation Hyperlordosis Congenital hypoplastic anemia Non-Hodgkin lymphoma Everted upper lip vermilion Partial duplication of thumb phalanx Erythroid hypoplasia Branchial cyst Persistence of hemoglobin F Hypoplastic anemia Elevated red cell adenosine deaminase activity Bifid thoracic vertebrae Transient erythroblastopenia Hypoplastic coccygeal vertebrae Hypoplastic sacral vertebrae Eosinophilia Chronic myelogenous leukemia Mastocytosis Intellectual disability, moderate Scoliosis Cryptorchidism Low-set ears Abnormality of the skeletal system Hypoplasia of the corpus callosum Kyphosis Clinodactyly Delayed skeletal maturation Clinodactyly of the 5th finger Pes cavus Severe short stature Posteriorly rotated ears Upslanted palpebral fissure Pes planus Abnormal neutrophil count


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