Hydrocephalus, and Paresthesia

Diseases related with Hydrocephalus and Paresthesia

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

Top matches:

Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD (see this term), and iatrogenic and variant CJD (vCJD).

SPORADIC CREUTZFELDT-JAKOB DISEASE Is also known as sporadic cjd|creutzfeldt-jakob disease, familial

Related symptoms:

  • Ataxia
  • Cataract
  • Spasticity
  • Visual impairment
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPORADIC CREUTZFELDT-JAKOB DISEASE

Medium match ATTRV30M AMYLOIDOSIS

Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

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:

Medium match ACROOSTEOLYSIS

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS

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

Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.

VON HIPPEL-LINDAU DISEASE Is also known as familial cerebelloretinal angiomatosis|von hippel-lindau syndrome|lindau disease|vhl

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about VON HIPPEL-LINDAU DISEASE

Medium match KRABBE DISEASE

Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay (Wenger et al., 2000). There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. The later-onset forms have less disease severity and slower progression. These later-onset patients can be clinically normal until weakness, vision loss and intellectual regression become evident; those with adult onset may have spastic paraparesis as the only symptom. Disease severity is variable, even within families (summary by Tappino et al., 2010).

KRABBE DISEASE Is also known as gcl|galc deficiency|galactosylceramide beta-galactosidase deficiency|globoid cell leukodystrophy|galactocerebrosidase deficiency|globoid cell leukoencephalopathy|gld

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KRABBE DISEASE

Hereditary spastic paraplegia (SPG or HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. SPG11 is a form of complicated SPG, in that it has neurologic features in addition to spasticity.For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (OMIM ).

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 11 Is also known as spastic paraplegia-intellectual disability-thin corpus callosum syndrome|nakamura-osame syndrome|spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum|spastic paraplegia, autosomal recessive, complicated, with thin corpu

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 11

Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (Jen et al., 2007).For a discussion of genetic heterogeneity of episodic ataxia, see EA1 (OMIM ).

EPISODIC ATAXIA, TYPE 2; EA2 Is also known as cerebellopathy, hereditary paroxysmal|ataxia, familial paroxysmal|capa|acetazolamide-responsive hereditary paroxysmal cerebellar ataxia|apca|cerebellar ataxia, paroxysmal, acetazolamide-responsive|ataxia, episodic, with nystagmus|episodic ataxia, nystagmu

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPISODIC ATAXIA, TYPE 2; EA2

Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.

ADULT POLYGLUCOSAN BODY DISEASE Is also known as apbd|polyglucosan body disease, adult form

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Muscle weakness
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ADULT POLYGLUCOSAN BODY DISEASE

Top 5 symptoms//phenotypes associated to Hydrocephalus and Paresthesia

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Visual impairment Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Muscle weakness

Uncommon Symptoms - Between 30% and 50% cases

Mental deterioration Hearing impairment Pain Headache Tremor Intellectual disability Spasticity Peripheral axonal neuropathy Cognitive impairment Weight loss Urinary incontinence Hypertension Global developmental delay Gait disturbance Cataract Dysarthria Depressivity Dementia Behavioral abnormality Abnormal pyramidal sign Gait ataxia Sensorineural hearing impairment Failure to thrive Fever Cardiomyopathy Vomiting CNS hypomyelination Malabsorption Paraplegia Polyneuropathy Sensorimotor neuropathy Rigidity Migraine Ventriculomegaly Hypoplasia of the corpus callosum Hemiplegia Paraparesis Spastic paraparesis Cerebral cortical atrophy Blindness Hyperreflexia Generalized hypotonia Reduced visual acuity Scoliosis Abnormality of the cerebral white matter Paralysis Hemiparesis Sensory neuropathy Increased CSF protein Dilatation Visual loss

Rare Symptoms - Less than 30% cases

Sensory impairment Lower limb spasticity Reduced tendon reflexes Abnormality of extrapyramidal motor function Abnormality of the periventricular white matter Urinary urgency Gaze-evoked nystagmus Hematuria Joint hypermobility Abnormality of skin pigmentation Neoplasm Retinal degeneration Corpus callosum atrophy Lower limb muscle weakness Urinary bladder sphincter dysfunction Motor polyneuropathy Saccadic smooth pursuit Difficulty walking Progressive spastic paraparesis Respiratory insufficiency Incoordination Feeding difficulties Anemia Low-set ears Delayed speech and language development Muscular hypotonia Pheochromocytoma Babinski sign Spastic paraplegia Abnormality of the kidney Osteoporosis Osteopenia EEG abnormality Overweight Pes cavus Abnormality of metabolism/homeostasis Hypertonia Optic atrophy Tetraparesis Progressive muscle weakness Horizontal nystagmus Macrocephaly EMG abnormality Hypertelorism Recurrent respiratory infections Renal cell carcinoma Glaucoma Short stature Recurrent fractures Hemiplegia/hemiparesis Bone pain Ankle clonus Skin ulcer CNS demyelination Nausea and vomiting Specific learning disability Skeletal muscle atrophy Polycystic kidney dysplasia Multiple renal cysts Abnormal facial shape Atherosclerosis Neuronal loss in central nervous system Unsteady gait Orthostatic hypotension Axonal degeneration Irritability Congestive heart failure Hallucinations Renal insufficiency Confusion Arrhythmia Neurodegeneration Apathy Abnormal cerebellum morphology Gliosis Peripheral demyelination Memory impairment Hypotension Arthritis Facial palsy Nephropathy Decreased number of peripheral myelinated nerve fibers Impotence Syringomyelia Cerebellar atrophy Encephalopathy Aphasia Myelopathy Myopathy Psychomotor deterioration Recurrent infections Abnormality of the pancreas Abnormality of central motor function Subcutaneous neurofibromas Optic nerve glioma Capillary hemangioma Abnormality of the retinal vasculature Acute promyelocytic leukemia Neurofibrosarcoma Abnormality of the cerebral vasculature Pancreatic cysts Arteriovenous malformation Plexiform neurofibroma Neuroma Inguinal freckling Arterial fibromuscular dysplasia Spinal neurofibromas Aplasia/Hypoplasia of the cerebellum Retinal detachment Multicystic kidney dysplasia Abnormal upper motor neuron morphology Increased intracranial pressure Erectile abnormalities Neurological speech impairment Vestibular Schwannoma Neurogenic bladder Hyperhidrosis Decreased urine output Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Telangiectasia of the skin Hypomimic face Distal peripheral sensory neuropathy Fibular bowing Embryonal rhabdomyosarcoma Gangrene Parathyroid adenoma Aqueductal stenosis Astrocytoma Brain neoplasm Decreased/absent ankle reflexes Myocardial fibrosis Neoplasm of the endocrine system Meningioma Increased reactive oxygen species production Anomalous pulmonary venous return Lafora bodies Severe vision loss Osteomalacia Multiple cafe-au-lait spots Freckling Tibial bowing Neurofibromas Pulmonary fibrosis Complete atrioventricular canal defect Night sweats Axillary freckling Abnormality of the lymphatic system Renovascular hypertension Renal artery stenosis Single ventricle Pseudoarthrosis Soft tissue sarcoma Epigastric pain Dural ectasia Leiomyosarcoma Gastrointestinal stroma tumor Paraganglioma Neoplasm of the central nervous system Lisch nodules Chronic myelogenous leukemia Renal phosphate wasting Schwannoma Glioma Nasolacrimal duct obstruction Rhabdomyosarcoma Carcinoid tumor Visceral angiomatosis Decreased liver function Neuroendocrine neoplasm Diplopia Aplasia/Hypoplasia of the corpus callosum Epileptic encephalopathy Macular degeneration Muscle stiffness Spastic gait Intention tremor Involuntary movements Sensory axonal neuropathy Sleep apnea Oral-pharyngeal dysphagia Distal amyotrophy Tinnitus Agenesis of corpus callosum Focal impaired awareness seizure Obesity Cerebral atrophy Ophthalmoparesis Dysphagia Abnormal flash visual evoked potentials Focal-onset seizure Progressive cerebellar ataxia Decerebrate rigidity Apnea Motor delay Fatigue Dystonia Demyelinating sensory neuropathy Knee clonus Proximal muscle weakness Thenar muscle atrophy Tip-toe gait Myalgia Upper limb spasticity Lower limb hyperreflexia Degeneration of the lateral corticospinal tracts Vertigo Nausea Postural instability Muscle cramps Generalized muscle weakness Impaired vibration sensation in the lower limbs Axonal loss Progressive spastic paraplegia Unexplained fevers Abnormal nerve conduction velocity Papillary cystadenoma of the epididymis Distal sensory impairment Generalized myoclonic seizures Falls Malignant hyperthermia Protruding ear Pallor Episodic ataxia Downbeat nystagmus Developmental regression Muscular hypotonia of the trunk Optic disc pallor Limitation of joint mobility Bradykinesia Temporal cortical atrophy Foot dorsiflexor weakness Amyotrophic lateral sclerosis Slow saccadic eye movements Neoplasm of the middle ear Vascular neoplasm Retinal capillary hemangioma Brain atrophy Rhabdomyolysis Myotonia Progressive spasticity Aplasia/Hypoplasia of the abdominal wall musculature Cloverleaf skull Demyelinating peripheral neuropathy Abnormality of the thumb Motor deterioration Diffuse cerebral atrophy Autoimmune thrombocytopenia Episodic fever Hyperactive deep tendon reflexes Opisthotonus Frequent falls Loss of consciousness Global brain atrophy Postural tremor Decreased nerve conduction velocity Vestibular dysfunction Spastic tetraparesis Cerebellar vermis atrophy Leukodystrophy Clonus Hypophosphatemia Decreased skull ossification Clitoral hypertrophy Pigmentary retinopathy Disproportionate tall stature Ectopia lentis Slurred speech Abnormality of retinal pigmentation Anorexia Recurrent urinary tract infections Broad-based gait Pulmonary arterial hypertension Psychosis Pancytopenia Aciduria Megaloblastic anemia Neutropenia Metabolic acidosis Hepatic steatosis Hemolytic anemia Long face Smooth philtrum Congenital cataract Lethargy Hip dislocation Retinopathy Thromboembolism Cor pulmonale Proteinuria Hyperhomocystinemia Micrognathia Thyroglossal cyst Cystathioninemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Decreased methylcobalamin Methylmalonic aciduria Urogenital fistula Delirium Abnormality of macular pigmentation Chronic hemolytic anemia Methylmalonic acidemia Atrophy of the spinal cord Hemolytic-uremic syndrome Right ventricular failure Gastritis Homocystinuria Feeding difficulties in infancy Macrotia Hepatomegaly Visual hallucinations Constipation Hyporeflexia Areflexia Diarrhea Hirano bodies Extrapyramidal muscular rigidity Loss of facial expression Normal pressure hydrocephalus Dysesthesia Supranuclear gaze palsy Delusions Bilateral sensorineural hearing impairment Muscle fibrillation Visual field defect Blurred vision Personality changes Language impairment Truncal ataxia Cerebral visual impairment Choreoathetosis Anxiety Myoclonus Coma Cardiomegaly High forehead Sensory ataxia Acidosis Thrombocytopenia Intellectual disability, severe Growth delay Microcephaly Amyloid deposition in the vitreous humor Cardiac amyloidosis Vitreous floaters Orthostatic hypotension due to autonomic dysfunction Urinary retention Abnormal renal physiology Vasculitis Constrictive median neuropathy Stroke-like episode Multiple myeloma Restrictive cardiomyopathy Amyloidosis Malnutrition Cerebral hemorrhage Rheumatoid arthritis Cachexia Atrioventricular block Abnormal autonomic nervous system physiology Cleft palate Brachydactyly Precocious puberty Premature loss of permanent teeth Hyperactivity Abnormal heart morphology Abnormality of cardiovascular system morphology Intellectual disability, mild Abnormality of the skeletal system Ptosis Osteolytic defects of the phalanges of the toes Partial absence of toe Hypoplastic 5th lumbar vertebrae Basilar invagination Basilar impression Kyphoscoliosis Flank pain Absent frontal sinuses Rough bone trabeculation Biconcave vertebral bodies Respiratory arrest Platybasia Mitral stenosis Osteolytic defects of the phalanges of the hand Periodontitis Patellar dislocation Autism Hypoglycemia Delayed cranial suture closure Mitral valve prolapse Back pain Sarcoma Breast carcinoma Reduced bone mineral density Venous thrombosis Spina bifida Cafe-au-lait spot Aganglionic megacolon Hypsarrhythmia Coarctation of aorta Abnormality of the cardiovascular system Hypertrophic cardiomyopathy Tetralogy of Fallot Overgrowth Gastrointestinal hemorrhage Lymphoma Facial asymmetry Genu valgum Pulmonic stenosis Pruritus Leukemia Attention deficit hyperactivity disorder Autistic behavior Prominent occiput Open bite Wide nasal bridge Hypospadias Respiratory tract infection Telecanthus Joint laxity Umbilical hernia Coarse facial features Arthralgia Skeletal dysplasia Narrow mouth Inguinal hernia Patent ductus arteriosus Hernia Dolichocephaly Malar flattening Long philtrum Kyphosis Splenomegaly Abnormality of the dentition Short neck Anteverted nares Ventricular septal defect Downslanted palpebral fissures Myopia Pectus carinatum Synophrys Glomerulonephritis Thickened skin Abnormality of the voice Coarse hair Arnold-Chiari malformation Osteolysis Abnormality of the fingernails Wormian bones Generalized hirsutism Low anterior hairline Aortic valve stenosis Short toe Bowing of the long bones Delayed puberty Dental malocclusion Intestinal malrotation Full cheeks Downturned corners of mouth Iris coloboma Wide nose Short distal phalanx of finger Thick eyebrow Thin vermilion border Dry skin Joint hyperflexibility Cervical spinal cord atrophy


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