Hydrocephalus, and Acute leukemia

Diseases related with Hydrocephalus and Acute leukemia

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

Top matches:

Medium match NASU-HAKOLA DISEASE

Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.

NASU-HAKOLA DISEASE Is also known as plosl|dementia, prefrontal, with bone cysts|plo-sl|dementia, progressive, with lipomembranous polycystic osteodysplasia|nasu-hakola disease|polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy|brain-bone-fat disease|nhd|presenile d

Related symptoms:

  • Seizures
  • Pain
  • Spasticity
  • Gait disturbance
  • Ventriculomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about NASU-HAKOLA DISEASE

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

Other less relevant matches:

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

Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

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

Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DUBOWITZ SYNDROME

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Low match DOWN SYNDROME

Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

DOWN SYNDROME Is also known as trisomy 21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOWN SYNDROME

Low match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Acute leukemia

Symptoms // Phenotype % cases
Leukemia Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Anemia Generalized hypotonia Pain Epicanthus Global developmental delay Nystagmus Hearing impairment Depressed nasal bridge Myopia Hypertelorism Strabismus Lymphoma Breast carcinoma Acute lymphoblastic leukemia Microcephaly Abnormal facial shape Acute myeloid leukemia Myelodysplasia Cafe-au-lait spot Intrauterine growth retardation Visual impairment Blindness Malar flattening Visual loss Glaucoma Abnormality of skin pigmentation Sarcoma Astrocytoma Abnormality of cardiovascular system morphology Recurrent infections Brachydactyly Scoliosis Headache Micrognathia Cognitive impairment Ventriculomegaly

Rare Symptoms - Less than 30% cases

Aganglionic megacolon Acute monocytic leukemia Malabsorption Neoplasm of the central nervous system Cellulitis Neurofibromas Narrow mouth Increased intracranial pressure Hypothyroidism Postural instability Neurofibrillary tangles Narrow face Carcinoma Weight loss Developmental regression Midface retrusion Incoordination Abnormal heart morphology Cleft palate Attention deficit hyperactivity disorder Multiple cafe-au-lait spots Leiomyosarcoma High palate Gait disturbance Motor delay Ataxia Edema Behavioral abnormality Embryonal rhabdomyosarcoma Cerebral atrophy Ptosis Respiratory insufficiency Intellectual disability, mild Abnormality of the dentition Dementia Joint hyperflexibility Thrombocytopenia Pectus excavatum Clinodactyly of the 5th finger Hydronephrosis Polymicrogyria Soft tissue sarcoma Dilatation Autism Rhabdomyosarcoma Sandal gap Upslanted palpebral fissure Complete atrioventricular canal defect Macroglossia Anal atresia Short neck Short nose Meningioma Chronic diarrhea Anomalous pulmonary venous return Reduced bone mineral density Failure to thrive Immunodeficiency Cutis marmorata Growth delay Alzheimer disease Delayed speech and language development Brachycephaly Hypertension Overgrowth Macrocephaly Cryptorchidism Postnatal growth retardation Senile plaques Low-set ears Renal cell carcinoma Bone cyst Chromosome breakage Lipoma Broad thumb Bone pain Hypospadias Bilateral single transverse palmar creases Thick lower lip vermilion Inguinal freckling Depressed nasal ridge Acute promyelocytic leukemia Subcutaneous neurofibromas Plexiform neurofibroma Open mouth Short palm Type II diabetes mellitus Umbilical hernia Flat face Downturned corners of mouth Hypotrichosis Microtia Single transverse palmar crease Joint laxity Conductive hearing impairment Neutropenia Spinal neurofibromas Polydactyly Obesity Muscular hypotonia Brow ptosis Postaxial polydactyly Cerebral artery stenosis Arterial fibromuscular dysplasia Microdontia Tibial pseudoarthrosis Single ventricle Optic nerve glioma Pulmonary fibrosis Sensory axonal neuropathy Glioma Nasolacrimal duct obstruction Carcinoid tumor Hypophosphatemia Paraganglioma Night sweats Pheochromocytoma Parathyroid adenoma Tibial bowing Precocious puberty Aqueductal stenosis Brain neoplasm Myocardial fibrosis Neoplasm of the endocrine system Gangrene Increased reactive oxygen species production Overweight Severe vision loss Osteomalacia Freckling Clitoral hypertrophy Back pain Neurofibrosarcoma Epigastric pain Tetralogy of Fallot Neuroma Vestibular Schwannoma Abnormality of the cardiovascular system Mitral valve prolapse Axillary freckling Renovascular hypertension Renal artery stenosis Pseudoarthrosis Dural ectasia Schwannoma Fibular bowing Coarctation of aorta Gastrointestinal stroma tumor Hypsarrhythmia Lisch nodules Sensorimotor neuropathy Chronic myelogenous leukemia Spina bifida Atherosclerosis Venous thrombosis Renal phosphate wasting Brushfield spots Narrow palate Abnormality of the vasculature Cavernous hemangioma Long penis Cellular immunodeficiency Intestinal polyposis Ovarian cyst Abnormality of the uterus Furrowed tongue Arteriovenous malformation Hydrocele testis Megalencephaly Skin tags Prolactin excess Papilledema Scaphocephaly Papilloma Hashimoto thyroiditis Hodgkin lymphoma Thyroiditis Ovarian neoplasm Hyperthyroidism Hamartoma Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Macule Melanocytic nevus Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Enlarged polycystic ovaries Hamartomatous polyposis Goiter Pseudopapilledema Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Progressive macrocephaly Fibroma Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Generalized hyperkeratosis Palmoplantar hyperkeratosis Melanoma Renal hypoplasia/aplasia Double outlet right ventricle Transient myeloproliferative syndrome Crackles Atlantoaxial instability Neutrophilia Abnormality of the fontanelles or cranial sutures Shallow acetabular fossae Duodenal stenosis Abnormality of the lymphatic system Myeloproliferative disorder Short middle phalanx of the 5th finger Pulmonary edema Hypoxemia Hypoplastic iliac wing Thickened nuchal skin fold Round ear Thrombocytosis Protruding tongue Polycythemia Congenital hypothyroidism Impaired pain sensation Abnormality of immune system physiology Abnormality of blood and blood-forming tissues Prematurely aged appearance Transposition of the great arteries Broad palm Atrioventricular canal defect Decreased fertility Hydroureter Cholelithiasis Gastrointestinal hemorrhage Left-to-right shunt Hypopigmented skin patches Palmoplantar keratoderma Hemangioma Drooling Cranial nerve paralysis Neoplasm of the skin Lymphopenia Gynecomastia Exotropia Telangiectasia Subcutaneous nodule Intention tremor Decreased antibody level in blood Abnormal cerebellum morphology Hypoplasia of the maxilla Joint hypermobility Acute megakaryocytic leukemia Nausea and vomiting Papule Abnormality of the kidney Intellectual disability, moderate Proximal muscle weakness Kyphosis Diarrhea Myopathy Atrial septal defect Frontal bossing Tremor Downslanted palpebral fissures Skeletal muscle atrophy Muscle weakness Specific learning disability Sloping forehead Recurrent fractures Glioblastoma multiforme Iris neovascularization Pineal cyst Ewing sarcoma Hyphema Neoplasm of the eye Sebaceous gland carcinoma Liposarcoma Histiocytoma Vitritis Burkitt lymphoma Fibrosarcoma Malar rash Retinal calcification Leukocoria Anisocoria Ocular pain Vitreous hemorrhage Retinoblastoma Inflammatory abnormality of the eye Buphthalmos Anemia of inadequate production Osteosarcoma Uveitis Anorexia Pinealoma Pineoblastoma Proptosis High myopia Cortical dysplasia Dextrocardia Ectopia lentis Pyloric stenosis Corneal dystrophy Macular degeneration Horizontal nystagmus Abnormality of the hair Pachygyria Encephalocele Thin skin Progressive visual loss Neuroblastic tumors Vesicoureteral reflux Retinal detachment Bulbous nose Retinal degeneration Congenital cataract Nyctalopia Mental deterioration Retrognathia Alopecia Patent ductus arteriosus Cerebellar atrophy Skin rash Vomiting Absent septum pellucidum Abnormality of movement Leukoencephalopathy Oculomotor apraxia Abnormality of epiphysis morphology Apraxia Cerebral calcification Peripheral demyelination Memory impairment Urinary incontinence Limitation of joint mobility Chorea Gliosis Abnormality of the foot Personality changes Neurological speech impairment Irritability Aggressive behavior EEG abnormality Arthralgia Skeletal dysplasia Cerebral cortical atrophy Myoclonus Babinski sign Hypoplasia of the corpus callosum Spasticity Abnormality of the hand Pathologic fracture T-cell acute lymphoblastic leukemias Euphoria Chromosomal breakage induced by crosslinking agents Medulloblastoma Peters anomaly Anteriorly placed anus Horseshoe kidney Bone marrow hypocellularity Short thumb Renal hypoplasia Esotropia Corneal opacity Microphthalmia Lack of insight Basal ganglia calcification Abnormal adipose tissue morphology Caudate atrophy Functional abnormality of the gastrointestinal tract Frontal lobe dementia Agnosia Abnormal upper motor neuron morphology Inappropriate behavior Primitive reflex Disinhibition Cerebral edema Axonal loss Chorioretinal atrophy Occipital encephalocele Peripheral axonal neuropathy Cutaneous photosensitivity Aplasia/Hypoplasia of the thumb Delayed cranial suture closure Metatarsus adductus Hypoplastic toenails Sacral dimple Aplasia/Hypoplasia of the corpus callosum Spina bifida occulta Abnormality of the fingernails Low anterior hairline Wide anterior fontanel Sparse scalp hair Fine hair Underdeveloped supraorbital ridges Eczema Asthma Delayed eruption of teeth Short foot Small hand Dry skin Toe syndactyly Blepharophimosis Wide mouth Craniosynostosis Protruding ear Submucous cleft hard palate Anal stenosis Telecanthus Hyperactivity Paresthesia Facial asymmetry Genu valgum Pulmonic stenosis Pruritus Paralysis Autistic behavior Hypertrophic cardiomyopathy Hypoglycemia Osteopenia Kyphoscoliosis Osteoporosis Hypoparathyroidism Depressivity Cardiomyopathy Abnormality of the skeletal system Dysarthria Peripheral neuropathy Abnormality of thumb phalanx Abnormality of female external genitalia Abnormality of neutrophils Rectal prolapse Sparse lateral eyebrow Abnormality of the antihelix Low-set, posteriorly rotated ears Delayed skeletal maturation Aplasia cutis congenita Cerebellar malformation Agenesis of corpus callosum Cerebellar hypoplasia Clinodactyly Long philtrum Anteverted nares Wide nasal bridge Cephalocele Bifid ureter Occipital meningocele Peripapillary atrophy Exudative retinal detachment Abnormal vitreous humor morphology Micropenis Phthisis bulbi Lymphangioma Band keratopathy Lens luxation Macular hypoplasia Total anomalous pulmonary venous return Aplasia cutis congenita of scalp Large forehead Calvarial skull defect Vitreoretinopathy Meningocele Posteriorly rotated ears High forehead Hypodysplasia of the corpus callosum Hyperpigmentation of the skin Premature chromatid separation Cerebral hypoplasia Triangular mouth Short sternum Mild microcephaly Multiple renal cysts Severe intrauterine growth retardation Combined immunodeficiency Bifid scrotum Nephroblastoma Limb-girdle muscular dystrophy Primary amenorrhea Feeding difficulties in infancy Intellectual disability, profound Ambiguous genitalia Oligohydramnios Amenorrhea Dandy-Walker malformation Generalized myoclonic seizures Renal cyst Wide nose Generalized tonic-clonic seizures Severe global developmental delay Muscular dystrophy Small for gestational age Lobular carcinoma in situ


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