Anemia, and Dandy-Walker malformation

Diseases related with Anemia and Dandy-Walker malformation

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


Top matches:

Low match GALLOWAY-MOWAT SYNDROME


Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.

GALLOWAY-MOWAT SYNDROME Is also known as nephrosis-neuronal dysmigration syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|microcephaly, hiatal hernia, and nephrotic syndrome|scar5, formerly|galloway syndrome|cerebellar ataxia with mental retardation, optic atrophy, and skin abnor

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME

Low match JUVENILE HUNTINGTON DISEASE


Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

JUVENILE HUNTINGTON DISEASE Is also known as huntington chorea|jhd|juvenile huntington chorea

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HUNTINGTON DISEASE

Low match CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA


Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.

CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA Is also known as camt|congenital amegakaryocytic thrombocytopenic purpura

Related symptoms:

  • Short stature
  • Scoliosis
  • Anemia
  • Short neck
  • Thrombocytopenia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA

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Other less relevant matches:

Low match JOUBERT SYNDROME WITH OCULORENAL DEFECT


Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease.

JOUBERT SYNDROME WITH OCULORENAL DEFECT Is also known as coloboma, chorioretinal, with cerebellar vermis aplasia|arima syndrome|js-or|js type b|cerebellooculorenal syndrome|joubert syndrome with senior-loken syndrome|cors|joubert syndrome with bilateral chorioretinal coloboma|cerebrooculohepatorenal syndrome|de

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH OCULORENAL DEFECT

Low match NEPHRONOPHTHISIS 1; NPHP1


Nephronophthisis is an autosomal recessive cystic kidney disease that leads to renal failure in childhood or adolescence. It is the most frequent genetic cause of renal failure in children. NPHP may be combined with extrarenal manifestations, such as liver fibrosis, situs inversus, or cardiac malformations. When nephronophthisis is combined with retinitis pigmentosa, the disorder is known as Senior-Loken syndrome (SLSN1 ); when it is combined with cerebellar vermis hypoplasia, the disorder is known as Joubert syndrome (JBTS1 ); and when it is combined with multiple developmental and neurologic abnormalities, the disorder is often known as Meckel-Gruber syndrome (MKS1 ). Because most NPHP gene products localize to the cilium or its associated structures, nephronophthisis and the related syndromes have been termed 'ciliopathies' (summary by Hoff et al., 2013).Clinical features of familial juvenile nephronophthisis include anemia, polyuria, polydipsia, isosthenuria, and death in uremia. Simms et al. (2009) provided a detailed review of nephronophthisis, including a discussion of clinical features and molecular genetics. Genetic Heterogeneity of NephronophthisisNPHP2 (OMIM ) is caused by mutation in the INVS gene (OMIM ) on chromosome 9q31; NPHP3 (OMIM ) is caused by mutation in the NPHP3 gene (OMIM ) on chromosome 3q22; NPHP4 (OMIM ) is caused by mutation in the NPHP4 gene (OMIM ) on chromosome 1p36; NPHP7 (OMIM ) is caused by mutation in the GLIS2 gene (OMIM ) on chromosome 16p13; NPHP9 (OMIM ) is caused by mutation in the NEK8 gene (OMIM ) on chromosome 17q11; NPHP11 (OMIM ) is caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q22; NPHP12 (OMIM ) is caused by mutation in the TTC21B gene (OMIM ) on chromosome 2q24; NPHP13 (OMIM ) is caused by mutation in the WDR19 gene (OMIM ) on chromosome 4p14; NPHP14 (OMIM ) is caused by mutation in the ZNF423 gene (OMIM ) on chromosome 16; NPHP15 (OMIM ) is caused by mutation in the CEP164 gene (OMIM ) on chromosome 11q; NPHP16 (OMIM ) is caused by mutation in the ANKS6 gene (OMIM ) on chromosome 9q22; NPHP18 (OMIM ) is caused by mutation in the CEP83 gene (OMIM ) on chromosome 12q22; NPHP19 (OMIM ) is caused by mutation in the DCDC2 gene (OMIM ) on chromosome 6p22; and NPHP20 (OMIM ) is caused by mutation in the MAPKBP1 gene (OMIM ) on chromosome 15q13.

NEPHRONOPHTHISIS 1; NPHP1 Is also known as nephronophthisis, familial juvenile|nph1

Related symptoms:

  • Growth delay
  • Anemia
  • Hypertension
  • Renal insufficiency
  • Rod-cone dystrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEPHRONOPHTHISIS 1; NPHP1

Low match CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE


Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the hematologic findings of megaloblastic anemia and variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy (Banka et al., 2011) to childhood absence epilepsy with learning difficulties to lack of symptoms (Cario et al., 2011). Treatment with folinic acid can ameliorate some of the symptoms.

CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE Is also known as dihydrofolate reductase deficiency|dhfr deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE

Low match SRD5A3-CDG


SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.

SRD5A3-CDG Is also known as cdg1q|coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities|congenital disorder of glycosylation type iq|cdg-iq|congenital disorder of glycosylation type 1q|cdg syndrome type iq|cdg iq|cdgiq

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SRD5A3-CDG

Low 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

Low match THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR


The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia (see {227650}). Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee (summary by Albers et al., 2012).

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR Is also known as tar syndrome|chromosome 1q21.1 deletion syndrome, 200-kb

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR

Low match B4GALT1-CDG


B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.

B4GALT1-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iid|beta-1,4-galactosyltransferase deficiency|congenital disorder of glycosylation type 2d|cdg2d|cdg iid|congenital disorder of glycosylation type iid|cdgiid|cdg-iid|cdg syndrome type iid

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Macrocephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about B4GALT1-CDG

Top 5 symptoms//phenotypes associated to Anemia and Dandy-Walker malformation

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

Patients with Anemia and Dandy-Walker malformation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Cerebellar atrophy Strabismus Abnormality of the kidney Scoliosis Short stature Renal insufficiency Pancytopenia Hydrocephalus Tubular atrophy Ventriculomegaly Thrombocytopenia Microcephaly Cerebellar hypoplasia Growth delay Nephropathy Severe global developmental delay Low-set ears Ptosis Pachygyria Muscular hypotonia Micrognathia Nystagmus

Rare Symptoms - Less than 30% cases


Hepatosplenomegaly Stage 5 chronic kidney disease Brachycephaly Heterotopia Postnatal microcephaly Coloboma Abnormal heart morphology Sloping forehead Prominent nose Delayed myelination Depressed nasal bridge Brain atrophy Chorea Gliosis Renal cyst Motor delay Abnormality of coagulation Hyperkinesis Ventricular septal defect Generalized-onset seizure Hip dislocation Leukemia Hyperactivity Chromosome breakage Behavioral abnormality Hypertension Clinodactyly of the 5th finger Dilated fourth ventricle Abnormality of the skeletal system Adducted thumb Cleft palate Abnormal cardiac septum morphology Proportionate short stature Abnormality of neuronal migration Amegakaryocytic thrombocytopenia Hypoplasia of the brainstem Hepatomegaly Anteverted nares Intellectual disability, severe Hearing impairment Neuronal loss in central nervous system Hepatic fibrosis Dystonia Intrauterine growth retardation Pes cavus Pneumonia High palate Dilatation Cerebral atrophy Feeding difficulties Delayed speech and language development Nephronophthisis Visual impairment Congenital hepatic fibrosis Tubulointerstitial fibrosis Edema Renal corticomedullary cysts Hypoplasia of the corpus callosum Talipes equinovarus Cognitive impairment Multiple small medullary renal cysts Hyperreflexia Cataract Abnormal facial shape Wide mouth Irritability Small for gestational age Polydipsia Abnormality of eye movement Talipes Polyuria Hypertelorism Proteinuria Prominent nasal bridge Thick eyebrow Clinodactyly Facial asymmetry Single transverse palmar crease Downslanted palpebral fissures Cryptorchidism Kyphosis Hypospadias Blepharophimosis Delayed skeletal maturation Pulmonic stenosis Synophrys Postnatal growth retardation Posteriorly rotated ears Upslanted palpebral fissure Retrognathia Pes planus Microtia Intellectual disability, moderate Hyperlordosis Abnormality of the pinna Retinal degeneration Severe short stature Erythroderma Reduced antithrombin III activity Aciduria Abnormality of skin pigmentation Jaundice Pallor Ichthyosis Elevated hepatic transaminase Hyperkeratosis Absence seizures Tubular basement membrane disintegration Tapered finger Poor head control Central hypotonia Megaloblastic anemia Methylmalonic aciduria Absence seizures with eyelid myoclonia Polymicrogyria Palmoplantar keratoderma Anterior pituitary hypoplasia Oligodontia Abnormality of retinal pigmentation Type I transferrin isoform profile Microcytic anemia Eyelid myoclonus Optic nerve hypoplasia Situs inversus totalis Cutis laxa Hyposthenuria Inflammatory abnormality of the skin Agenesis of permanent teeth Hypertrichosis Retinal dysplasia Chorioretinal degeneration Tubulointerstitial abnormality Eczema Visual loss Sensorineural hearing impairment Triangular face Delayed CNS myelination Carpal bone hypoplasia Fibular aplasia Pancreatic cysts Cavum septum pellucidum Aplasia of the uterus Fused cervical vertebrae Seborrheic dermatitis Patellar aplasia Allergy Aplastic anemia Lateral clavicle hook Duodenal atresia Cardiorespiratory arrest Patellar dislocation Carpal synostosis Nevus flammeus Megalocornea Absent radius Focal impaired awareness seizure Intracranial hemorrhage Hypoplasia of the radius Phocomelia Generalized tonic-clonic seizures with focal onset Eosinophilia Lactose intolerance Abnormality of the coagulation cascade Stroke Elevated serum creatine phosphokinase Myopathy Macrocephaly Cow milk allergy Axial malrotation of the kidney Shoulder muscle hypoplasia Tetraphocomelia Edema of the dorsum of feet Cervical ribs Tibial torsion Nevus flammeus of the forehead Aplasia/hypoplasia of the humerus Edema of the dorsum of hands Intermittent thrombocytopenia Renal malrotation Bilateral radial aplasia Meckel diverticulum Abnormality of the shoulder Aplasia/Hypoplasia of the ulna Genu varum Hemangioma Dental malocclusion Acute myeloid leukemia Lumbar scoliosis Selective tooth agenesis Acute monocytic leukemia 11 pairs of ribs Abnormal cortical gyration Abnormally large globe Cone-shaped epiphyses of the phalanges of the hand Severe intrauterine growth retardation Dislocated radial head Myeloid leukemia Ivory epiphyses Clitoral hypertrophy Myelodysplasia Patent foramen ovale Sandal gap Narrow palate Elbow flexion contracture Narrow face Dental crowding Hypoplasia of dental enamel Convex nasal ridge Small anterior fontanelle Abnormal finger flexion creases Coxa valga Decreased antibody level in blood Horseshoe kidney Spina bifida Short phalanx of finger Left ventricular hypertrophy Broad thumb Blue sclerae Ventricular hypertrophy Coarctation of aorta Tetralogy of Fallot Focal-onset seizure Intestinal malrotation Hypoplasia of proximal radius Sepsis Finger syndactyly Cleft lip Glaucoma Agenesis of corpus callosum Malar flattening Atrial septal defect Rod-cone dystrophy Hypoplasia of proximal fibula Large basal ganglia Abnormality of the nervous system Abnormality of cardiovascular system morphology Renal sodium wasting Abnormality of immune system physiology Aqueductal stenosis Diffuse cerebral atrophy Esophagitis Mild microcephaly Aspiration pneumonia Adrenal hypoplasia Hiatus hernia Hypoplasia of the iris Congenital hypothyroidism Abnormal renal physiology Slender finger Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Flat occiput Glomerulosclerosis Hypoalbuminemia Chronic kidney disease Lissencephaly Spastic ataxia Periorbital edema Opacification of the corneal stroma Laryngospasm Dementia Depressivity Dysphagia Gait disturbance Tremor Dysarthria Projectile vomiting Thyroid dysgenesis Hypoplasia of the ear cartilage Hand clenching Encephalomalacia Albuminuria Congenital nephrotic syndrome Abnormality of the intervertebral disk Axial dystonia Diffuse mesangial sclerosis Diaphragmatic eventration Narrow nasal ridge Severe muscular hypotonia Aspiration Diabetes mellitus Absent speech Camptodactyly Muscular hypotonia of the trunk EEG abnormality Gastroesophageal reflux Macrotia Hypothyroidism Cerebral cortical atrophy Hernia Midface retrusion Retinopathy Microphthalmia Abnormality of the dentition Hypertonia Vomiting Optic atrophy Epicanthus Flexion contracture Spasticity Abnormality of the eye Camptodactyly of finger Joint contracture of the hand Premature birth Progressive microcephaly Small nail Hypsarrhythmia Spastic tetraplegia Nephrotic syndrome Hypotelorism Oligohydramnios Narrow forehead Limitation of joint mobility Abnormality of the foot Tetraplegia Ascites Hypopigmentation of the skin Sleep disturbance Hematuria Inability to walk Arachnodactyly Poor speech Myoclonus Gait ataxia Brainstem dysplasia Dyspnea Hepatic steatosis Retinal dystrophy Iris coloboma Long face Abnormality of the liver Autistic behavior Apnea Low-set, posteriorly rotated ears Blindness Postaxial hand polydactyly Megakaryocytopenia Abnormal hemoglobin Decreased skull ossification Thrombocytosis Melanocytic nevus Bone marrow hypocellularity Abnormal form of the vertebral bodies Neutropenia Highly arched eyebrow Encephalocele Short neck Congenital blindness Occipital meningocele Aplasia/Hypoplasia of the cerebellar vermis Agenesis of cerebellar vermis Abnormality of the hypothalamus-pituitary axis Undetectable electroretinogram Postaxial foot polydactyly Foot polydactyly Severe vision loss Biparietal narrowing Aganglionic megacolon Molar tooth sign on MRI Chorioretinal coloboma Hand polydactyly Polycystic kidney dysplasia Aplasia/Hypoplasia of the corpus callosum Tachypnea Intellectual disability, progressive Multicystic kidney dysplasia Coarse facial features Oral motor hypotonia Weight loss Falls Clumsiness Broad-based gait Progressive neurologic deterioration Type II diabetes mellitus Bradykinesia Progressive cerebellar ataxia Abnormal cerebellum morphology Neurodegeneration Abnormality of movement Schizophrenia Infertility Abnormality of the cerebral white matter Cough Mental deterioration Aggressive behavior Anxiety Arthritis Rigidity Involuntary movements Incoordination Frequent temper tantrums Upper limb undergrowth Suicidal ideation Neuronal loss in basal ganglia Abnormal involuntary eye movements Mania Paranoia Testicular atrophy Chronic bronchitis Head tremor Restlessness Slurred speech Cerebellar vermis atrophy Bronchitis Muscle fibrillation Hypokinesia Akinesia Obsessive-compulsive behavior Personality changes Rheumatoid arthritis Stroke-like episode



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Polydactyly, related diseases and genetic alterations Fever and Upslanted palpebral fissure, related diseases and genetic alterations Fever and Dilated cardiomyopathy, related diseases and genetic alterations Spasticity and Bifid uvula, related diseases and genetic alterations Hypertension and Tremor, related diseases and genetic alterations

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