Hydrocephalus, and Pancytopenia

Diseases related with Hydrocephalus and Pancytopenia

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

Top matches:

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

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 4; AGS4

Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.

GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME Is also known as cardiovascular gaucher disease|gaucher-like disease|gaucher disease type 3c

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME

Other less relevant matches:

GRISCELLI SYNDROME, TYPE 2; GS2 Is also known as partial albinism and immunodeficiency syndrome|griscelli syndrome with hemophagocytic syndrome|paid syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GRISCELLI SYNDROME, TYPE 2; GS2

Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by Aker et al., 2012). Genetic Heterogeneity of Autosomal Recessive OsteopetrosisOther forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 (OMIM ), which is caused by mutation in the CLCN7 gene (OMIM ) on chromosome 16p13, and OPTB5 (OMIM ), which is caused by mutation in the OSTM1 gene (OMIM ) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2 ) is caused by mutation in the TNFSF11 gene (OMIM ) on chromosome 13q14, an intermediate form (OPTB6 ) is caused by mutation in the PLEKHM1 gene (OMIM ) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7 ) is caused by mutation in the TNFRSF11A gene (OMIM ) on chromosome 18q22. Another form of autosomal recessive osteopetrosis (OPTB8 ) is caused by mutation in the SNX10 gene (OMIM ) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3 ) is caused by mutation in the CA2 gene (OMIM ) on chromosome 8q21.Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, {607634}).

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 Is also known as marble bones, autosomal recessive|osteopetrosis, infantile malignant 1|albers-schonberg disease, autosomal recessive

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1

Infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification.

AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS Is also known as infantile malignant osteopetrosis|osteopetrosis, infantile malignant 2

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS

Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).

ALBERS-SCHÖNBERG OSTEOPETROSIS Is also known as osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant, type ii|marble bones, autosomal dominant|albers-schonberg disease, autosomal dominant|osteosclerosis fragilis generalisata

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALBERS-SCHÖNBERG OSTEOPETROSIS

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

Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

BALLER-GEROLD SYNDROME Is also known as craniosynostosis-radial aplasia syndrome|craniosynostosis with radial defects

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BALLER-GEROLD SYNDROME

Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Top 5 symptoms//phenotypes associated to Hydrocephalus and Pancytopenia

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Short stature Very Common - Between 80% and 100% cases
Hepatosplenomegaly Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Thrombocytopenia

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Growth delay

Common Symptoms - More than 50% cases

Hepatomegaly

Uncommon Symptoms - Between 30% and 50% cases

Splenomegaly Optic atrophy Increased bone mineral density Bone marrow hypocellularity Osteopetrosis Strabismus Facial paralysis Intellectual disability Hypocalcemia Tremor Visual impairment Lymphadenopathy Bone pain Leukopenia Cranial nerve paralysis Edema Scoliosis Ataxia Congestive heart failure Facial palsy Frontal bossing Macrocephaly Failure to thrive Malabsorption Hypertonia Pallor Pulmonary arterial hypertension Blindness Extramedullary hematopoiesis Osteomyelitis Spasticity Carious teeth Recurrent fractures Feeding difficulties

Rare Symptoms - Less than 30% cases

Generalized osteosclerosis Abnormal saccadic eye movements Depressivity Elevated serum acid phosphatase Dementia Arthritis Mitral valve calcification Proptosis Aortic valve calcification Decreased beta-glucocerebrosidase protein and activity Abnormality of the skeletal system Muscle weakness Difficulty walking Proteinuria Mental deterioration Supranuclear gaze palsy Aseptic necrosis Micrognathia Neurodegeneration Petechiae Cardiac valve calcification Recurrent infections Sepsis Neutropenia Abnormality of the dentition Abnormality of movement Mandibular prognathia Lethargy Rigidity Immunodeficiency Ascites Vomiting Decreased antibody level in blood Abnormality of the metacarpal bones Muscular hypotonia Genu valgum Increased susceptibility to fractures Coxa vara Recurrent urinary tract infections Respiratory insufficiency Hypertelorism Abnormal heart valve morphology Paralysis Exertional dyspnea Generalized hypotonia Microcephaly Hematuria Urogenital fistula Choanal stenosis Low-set ears Apnea Mandibular osteomyelitis Abnormality of epiphysis morphology Pneumonia Encephalopathy Bowing of the long bones Dystonia Intrauterine growth retardation Abnormality of the metaphysis Recurrent respiratory infections Progressive neurologic deterioration Acidosis Decreased body weight Brachycephaly Cranial hyperostosis Oculomotor apraxia Corneal opacity Myopia Generalized tonic-clonic seizures Visual loss Ophthalmoplegia Craniosynostosis Oligodactyly Failure to thrive in infancy Narrow face Trigonocephaly Hypoplasia of the radius Spina bifida occulta Short humerus Aplasia/Hypoplasia of the thumb Underdeveloped nasal alae Short thumb Anteriorly placed anus Narrow nasal bridge Absent thumb Hallux valgus Hypoplasia of the ulna Abnormal vertebral morphology Hypotelorism Tracheoesophageal fistula Prominent nose Large fontanelles Renal dysplasia Abnormal heart morphology Lymphoma Hyperhomocystinemia Thyroglossal cyst Cystathioninemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Decreased methylcobalamin High palate Delirium Abnormality of macular pigmentation Chronic hemolytic anemia Methylmalonic acidemia Atrophy of the spinal cord Hemolytic-uremic syndrome Right ventricular failure Gastritis Myelopathy Homocystinuria Cleft palate Motor delay Vesicoureteral reflux Low-set, posteriorly rotated ears Bifid uvula Polymicrogyria Anal atresia Facial asymmetry Broad forehead Prominent nasal bridge Skin rash Abnormal cardiac septum morphology Abnormality of the kidney Hydronephrosis Epicanthus Conductive hearing impairment Narrow mouth Prominent forehead Agenesis of corpus callosum Fibular hypoplasia Abnormality of cardiovascular system morphology Short nose Behavioral abnormality Ventricular septal defect Downslanted palpebral fissures Absent radius Unilateral radial aplasia Aplasia/Hypoplasia of the radius Hypoalbuminemia Restrictive ventilatory defect Opisthotonus Increased antibody level in blood Pulmonary fibrosis Menorrhagia Clubbing Abnormality of the thorax Portal hypertension Cholelithiasis Osteolysis Pericardial effusion Lymphopenia Hydrops fetalis Intention tremor Epistaxis Cyanosis Syncope Abnormal bleeding Progressive cerebellar ataxia Generalized myoclonic seizures Abdominal distention Interstitial pulmonary abnormality Abnormal retinal morphology Abnormality of eye movement Restrictive deficit on pulmonary function testing Abnormality of the acoustic reflex Abnormality of ion homeostasis Horizontal supranuclear gaze palsy Hematological neoplasm Erlenmeyer flask deformity of the femurs Orthopnea Spontaneous hematomas Abnormal thrombosis Astrocytosis Protein-losing enteropathy Avascular necrosis of the capital femoral epiphysis Lower limb hyperreflexia Abnormality of the spleen Abnormal myocardium morphology Multiple myeloma Hypercoagulability Vertebral compression fractures Slow saccadic eye movements Thoracic kyphosis Hepatocellular carcinoma Bulbar palsy Abnormality of the sternum Cirrhosis Delayed puberty Abnormality of the ureter Oxycephaly Metopic synostosis Brachyturricephaly Ulnar bowing Aplasia/Hypoplasia of the patella Lambdoidal craniosynostosis Limited elbow movement Hand oligodactyly Patellar hypoplasia Anterior plagiocephaly Abnormal localization of kidney Flat forehead Sagittal craniosynostosis Bilateral conductive hearing impairment Rib fusion Poikiloderma Rectovaginal fistula Osteosarcoma Chromosome breakage Coronal craniosynostosis Shallow orbits Carpal synostosis Abnormality of the carpal bones Bilateral radial aplasia Abnormal pyramidal sign Dysphagia Aggressive behavior Osteopenia Dyspnea Abdominal pain Osteoporosis Myoclonus Delayed skeletal maturation Arrhythmia Kyphosis Diarrhea Fatigue Aplasia of metacarpal bones Gait disturbance Cor pulmonale Aphalangy of the hands Anomalous splenoportal venous system Midface capillary hemangioma Carpal bone aplasia Persistent cloaca Limited shoulder movement Perineal fistula Bicoronal synostosis Methylmalonic aciduria Fractures of the long bones Megaloblastic anemia Jaundice Hyperlipidemia Recurrent bacterial infections Encephalocele Hepatitis Peripheral demyelination Abnormal cerebellum morphology Hypopigmentation of the skin Nausea and vomiting Fever Hypopigmented skin patches Cardiovascular calcification Aortic arch calcification Abnormal common carotid artery morphology Hypometric horizontal saccades Slowed horizontal saccades Abnormality of toe Bacterial endocarditis Calcification of the aorta Reduced tendon reflexes Pyloric stenosis Spontaneous, recurrent epistaxis Hemophagocytosis Aganglionic megacolon Accumulation of melanosomes in melanocytes Melanin pigment aggregation in hair shafts Silver-gray hair Cutaneous anergy Reduced delayed hypersensitivity Abnormality of neutrophils Partial albinism Generalized edema Albinism White hair Edema of the lower limbs Abnormal eyebrow morphology Abnormal eyelash morphology Pulmonary infiltrates Abnormality of lipid metabolism Iris hypopigmentation Premature graying of hair Abnormal aortic arch morphology Supranuclear ophthalmoplegia Ophthalmoparesis Convex nasal ridge CSF lymphocytic pleiocytosis Lymphocytosis Atrophy/Degeneration affecting the brainstem Muscle stiffness Bradycardia Leukodystrophy Progressive microcephaly Cerebral calcification Pruritus Hyporeflexia Severe global developmental delay Elevated hepatic transaminase Cerebral atrophy Cerebellar atrophy Ventriculomegaly Chronic rhinitis due to narrow nasal airway Diaphyseal sclerosis Persistence of primary teeth Respiratory distress Pes cavus Corneal crystals Abnormal EKG Reticular hyperpigmentation Abnormal aortic morphology Abnormality of the pulmonary artery Abnormal aortic valve morphology Abnormal mitral valve morphology Foam cells Communicating hydrocephalus Mitral stenosis Heart murmur Dry skin Cachexia Aortic regurgitation Opacification of the corneal stroma Horizontal nystagmus Aortic valve stenosis Mitral regurgitation Ventricular hypertrophy Cardiomegaly Elevated alkaline phosphatase Flared metaphysis Thromboembolism Retinopathy Retinal degeneration Paresthesia Unsteady gait Confusion Smooth philtrum Lower limb muscle weakness Congenital cataract Hip dislocation Feeding difficulties in infancy Long face Macrotia High forehead Reduced visual acuity Gait ataxia Weight loss Cerebral cortical atrophy Renal insufficiency Intellectual disability, severe Abnormality of skin pigmentation Joint hypermobility Cataract Broad-based gait Disproportionate tall stature Apathy Ectopia lentis Hemiplegia Slurred speech Atherosclerosis Abnormality of retinal pigmentation Anorexia Psychosis Hemolytic anemia Abnormality of extrapyramidal motor function Pigmentary retinopathy Memory impairment Aciduria Urinary incontinence Metabolic acidosis Hepatic steatosis Nephropathy Hypertension Abnormal facial shape Pathologic fracture Narrow chest Reticulocytosis Hypophosphatemia Reduced bone mineral density Abnormality of the ribs Abnormal blistering of the skin Otitis media Delayed eruption of teeth Bruising susceptibility Respiratory failure Pulmonary artery stenosis Abnormality of metabolism/homeostasis Sandwich appearance of vertebral bodies Secondary hyperparathyroidism Progressive macrocephaly Tetany Retinal atrophy Renal tubular acidosis Hyperparathyroidism Abnormality of visual evoked potentials Premature loss of primary teeth Abnormality of the vertebral endplates Joint dislocation Tooth abscess Abnormal leukocyte morphology Lumbar scoliosis Hip osteoarthritis Abnormal cranial nerve morphology Rhinitis Hyperostosis Abnormality of pelvic girdle bone morphology Lymphedema Chronic rhinitis Osteoarthritis Ectodermal dysplasia Short distal phalanx of finger Dilatation Opsoclonus Optic nerve compression Abnormal pulmonary valve morphology Abnormality of temperature regulation Abnormality of hair texture Sleep myoclonus


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