Hydrocephalus, and Hemolytic anemia

Diseases related with Hydrocephalus and Hemolytic anemia

In the following list you will find some of the most common rare diseases related to Hydrocephalus and Hemolytic anemia that can help you solving undiagnosed cases.

Top matches:

Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.

HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN Is also known as cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly|hereditary cryohydrocytosis type 2|sdchc|stomatin-deficient cryohydrocytosis|chc type 2|glut1 deficiency syndrome with pseudohyperkalemia an

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN

Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

FAMILIAL PORENCEPHALY Is also known as t1p|porencephaly, type 1, autosomal dominant|adt1p|hemiplegia, infantile, with porencephaly porencephaly, type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PORENCEPHALY

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Other less relevant matches:

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Growth delay
  • Anemia
  • Hydrocephalus


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP R; FANCR

Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.

HB BART'S HYDROPS FETALIS Is also known as alpha-thalassemia major|alpha-thalassemia hydrops fetalis|homozygous alpha0-thalassemia|hemoglobin bart's hydrops fetalis

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Hydrocephalus
  • Congestive heart failure
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about HB BART'S HYDROPS FETALIS

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).Patients with FANCB mutations often present with multiple additional congenital anomalies, including the constellation of features designated VACTERL-H, for vertebral defects, anal atresia, tracheoesophageal fistula, esophageal atresia, radial or renal dysplasia, and hydrocephalus. Many patients with these features die in early infancy before developing anemia (McCauley et al., 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB Is also known as fa2|facb|fanconi pancytopenia, type 2

Related symptoms:

  • Growth delay
  • Neoplasm
  • Low-set ears
  • Anemia
  • Intrauterine growth retardation


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB

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

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2 Is also known as osteopetrosis, osteoclast-poor|osteopetrosis, mild autosomal recessive form

Related symptoms:

  • Seizures
  • Short stature
  • Anemia
  • Visual impairment
  • Optic atrophy


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2

Top 5 symptoms//phenotypes associated to Hydrocephalus and Hemolytic anemia

Symptoms // Phenotype % cases
Anemia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Hemolytic anemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Short stature Cataract Growth delay Anal atresia Bone marrow hypocellularity Low-set ears Abnormal facial shape Hearing impairment Posterior embryotoxon Renal agenesis Hypocalcemia Arthritis Cognitive impairment Renal dysplasia Hypertonia Chromosome breakage Neoplasm

Rare Symptoms - Less than 30% cases

Recurrent infections Abnormality of cardiovascular system morphology Obesity Patent ductus arteriosus Right aortic arch with mirror image branching Inguinal hernia Posteriorly rotated ears Behavioral abnormality Hypothyroidism Retrognathia Intrauterine growth retardation Umbilical hernia Abnormality of the pinna Blepharophimosis Autoimmunity Immunodeficiency Right aortic arch Atrial septal defect Cleft palate Mental deterioration Congenital cataract Pancytopenia Psychosis Apathy Scoliosis High palate Bulbous nose Delayed speech and language development Microphthalmia Fever Ventricular septal defect Sacral meningocele Short neck Hypoplasia of the corpus callosum Bifid uvula Perimembranous ventricular septal defect Meningocele Autoimmune hemolytic anemia Autoimmune thrombocytopenia Bipolar affective disorder Duodenal stenosis Vitiligo Hypoparathyroidism Truncus arteriosus Acne Myelomeningocele Juvenile rheumatoid arthritis Seborrheic dermatitis Aplasia of the uterus Graves disease Interrupted aortic arch Impaired T cell function Inflammation of the large intestine Unilateral renal agenesis Chorea Spina bifida Arteria lusoria Specific learning disability Amenorrhea Tetralogy of Fallot Low posterior hairline Primary amenorrhea Aplasia of the thymus Conotruncal defect Psoriasiform dermatitis Retinal vascular tortuosity Bicuspid aortic valve Arnold-Chiari malformation Schizophrenia Nasal speech Cholelithiasis Rheumatoid arthritis Purpura Abnormal heart morphology Dementia Hepatomegaly Nystagmus Spasticity Ventriculomegaly Visual impairment Muscular hypotonia Failure to thrive Generalized hypotonia Facial paralysis Splenomegaly Intellectual disability, severe Absent speech Hemiplegia Macrotia Exotropia Hepatosplenomegaly Hematuria Polymicrogyria Strabismus Ataxia Cerebellar atrophy Depressivity Congestive heart failure Medulloblastoma Unilateral primary pulmonary dysgenesis Osteopetrosis Psychotic episodes Osteomyelitis Coxa vara Central nervous system degeneration Vascular ring Perineal fistula Congenital conductive hearing impairment Macrocephaly Brachydactyly Unilateral lung agenesis Hypertelorism Giant platelets Increased bone mineral density Micrognathia Ptosis Flexion contracture Hyperreflexia Narrow mouth Recurrent fractures Hydronephrosis Telecanthus Cleft lip Abnormality of the kidney Craniosynostosis Velopharyngeal insufficiency Jaundice Short philtrum Pulmonary artery atresia Anal stenosis Dysarthria Mandibular osteomyelitis Hypoglycorrhachia Hearing abnormality Zonular cataract Delusions Pierre-Robin sequence Hemoglobinuria Stomatocytosis Echolalia Abnormality of the endocrine system Conjugated hyperbilirubinemia Paranoia Diaphyseal sclerosis Cranial hyperostosis Broad neck Hyperkalemia Hyperbilirubinemia Delayed myelination Inability to walk Platybasia Mood swings Paraplegia Spastic paraplegia Persistence of primary teeth Extramedullary hematopoiesis Attention deficit hyperactivity disorder Generalized tonic-clonic seizures Microtia Abnormality of chromosome stability Hydrops fetalis Pericarditis Preeclampsia Abnormal hemoglobin T-cell acute lymphoblastic leukemias Abnormal vertebral morphology Tracheoesophageal fistula External genital hypoplasia Absent thumb Absent radius Esophageal atresia Abnormal lung lobation Leukemia Pallor Corneal opacity Chromosomal breakage induced by crosslinking agents Esotropia Renal hypoplasia Short thumb Cafe-au-lait spot Horseshoe kidney Breast carcinoma Myelodysplasia Acute myeloid leukemia Anteriorly placed anus Lipoma Acute leukemia Oligohydramnios Polyhydramnios Peters anomaly Anterior segment developmental abnormality Astigmatism Iris coloboma High, narrow palate Genu valgum Carious teeth Coarctation of aorta Short palpebral fissure Mandibular prognathia Broad thumb Abnormality of the dentition Sclerocornea Tetany Hypoplasia of the thymus Optic atrophy Femoral hernia Alcoholism Perisylvian polymicrogyria Abnormality of the middle ear Abnormality of the thymus Vascular tortuosity Esophoria Accommodative esotropia Decreased circulating parathyroid hormone level Parathyroid hypoplasia Parathyroid agenesis Type I truncus arteriosus Blindness Amblyopia Hypoplasia of the brainstem Submucous cleft hard palate Myelopathy Recurrent urinary tract infections Anorexia Abnormality of retinal pigmentation Atherosclerosis Slurred speech Ectopia lentis Tremor Disproportionate tall stature Thromboembolism Megaloblastic anemia Cor pulmonale Methylmalonic aciduria Homocystinuria Gastritis Pulmonary arterial hypertension Right ventricular failure Hemolytic-uremic syndrome Atrophy of the spinal cord Methylmalonic acidemia Chronic hemolytic anemia Abnormality of macular pigmentation Delirium Urogenital fistula Decreased methylcobalamin Hyperhomocystinemia Decreased adenosylcobalamin Decreased methionine synthase activity Vitamin B12 deficiency Cystathioninuria Broad-based gait Respiratory insufficiency Decreased methylmalonyl-CoA mutase activity Smooth philtrum Weight loss Gait ataxia Reduced visual acuity Acidosis High forehead Difficulty walking Proteinuria Renal insufficiency Feeding difficulties in infancy Retinopathy Hip dislocation Lethargy Malabsorption Lower limb muscle weakness Confusion Abnormality of extrapyramidal motor function Unsteady gait Paresthesia Retinal degeneration Abnormality of skin pigmentation Long face Joint hypermobility Nephropathy Hepatic steatosis Metabolic acidosis Neutropenia Urinary incontinence Aciduria Memory impairment Pigmentary retinopathy Hypomethioninemia Diffuse hepatic steatosis Axonal loss Holoprosencephaly Ischemic stroke Drooling Peripheral demyelination Cerebral palsy Leukoencephalopathy Open mouth Hemiparesis Hallucinations Tetraparesis Mitral valve prolapse Multicystic kidney dysplasia Narrow palpebral fissure Muscle cramps Renal cyst Vesicoureteral reflux Abnormality of the hand Stroke Abnormal pyramidal sign Dysdiadochokinesis Cerebellar hypoplasia Babinski sign Obsessive-compulsive behavior Elevated serum creatine phosphokinase Dilatation Cerebral cortical atrophy Dystonia Myopathic facies Abnormality of the ear Basal ganglia calcification Underdeveloped nasal alae Intracranial hemorrhage Cystathioninemia Stroke-like episode Thyroglossal cyst Hypertension Feeding difficulties Muscle weakness Antenatal intracerebral hemorrhage Spastic hemiparesis Perivascular spaces Schizencephaly Pontocerebellar atrophy Hemianopia Hernia Primitive reflex Hypospadias Porencephalic cyst Nuclear cataract Cerebral hemorrhage Hyperactivity Transient ischemic attack Hypoplasia of the iris Restlessness Conductive hearing impairment Anxiety Aggressive behavior Limb dystonia Visual field defect Opisthotonus Pulmonic stenosis Cortical dysplasia Dysmetria Dysphasia Chronic rhinitis due to narrow nasal airway


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