Hydrocephalus, and Sensory neuropathy

Diseases related with Hydrocephalus and Sensory neuropathy

In the following list you will find some of the most common rare diseases related to Hydrocephalus and Sensory neuropathy 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

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

Other less relevant matches:

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

Low 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

Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term).

XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX Is also known as xp/cs complex

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX

Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.

ISOLATED HEMIHYPERPLASIA Is also known as hemicorporal hypertrophy|hemi 3 syndrome|hemihypertrophy, isolated|hemihyperplasia|isolated hemihypertrophy|hhp

Related symptoms:

  • Seizures
  • Scoliosis
  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED HEMIHYPERPLASIA

1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Sensory neuropathy

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Visual impairment Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Cataract Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Peripheral neuropathy Nystagmus Hypertension Scoliosis Short stature Global developmental delay Failure to thrive Weight loss Paresthesia Intellectual disability Tremor Headache Behavioral abnormality Glaucoma Neoplasm Sensorineural hearing impairment Microcephaly Visual loss Intellectual disability, mild Hypertelorism Pain Pheochromocytoma Malabsorption Generalized hypotonia Dysarthria Muscular hypotonia Increased CSF protein Macrocephaly Muscle weakness Mental deterioration Reduced visual acuity Depressivity Confusion Blindness Dementia Hallucinations

Rare Symptoms - Less than 30% cases

Paraparesis Demyelinating peripheral neuropathy Joint hypermobility Abnormality of cardiovascular system morphology Hematuria Hemiplegia Leiomyosarcoma Spastic paraparesis Peripheral demyelination Sensorimotor neuropathy Atherosclerosis Hyperactivity Gait ataxia Recurrent respiratory infections Dilatation Hypertonia Vomiting Optic atrophy Fever Feeding difficulties Cognitive impairment Abnormality of skin pigmentation Hernia Autism Urinary incontinence Syringomyelia Tetralogy of Fallot Overgrowth Hyperreflexia Specific learning disability Abnormal facial shape Cachexia Low-set ears Neurofibromas Anemia Respiratory insufficiency Facial asymmetry Hip dislocation Nephropathy Peripheral axonal neuropathy Recurrent infections Arthritis Attention deficit hyperactivity disorder Autistic behavior Renal insufficiency Congestive heart failure Retinopathy Cardiomyopathy Myelopathy Osteopenia Constrictive median neuropathy Rigidity Recurrent fractures Renal cell carcinoma Hemiplegia/hemiparesis Cryptorchidism Anxiety Osteoporosis Migraine Unsteady gait Abnormality of the kidney Neurodegeneration Arrhythmia Bone pain Inguinal hernia Gait disturbance Gliosis Memory impairment Neuronal loss in central nervous system Hemiparesis Dry skin Hypospadias Abnormality of the dentition Aphasia Apathy Multiple renal cysts Polycystic kidney dysplasia Paralysis Irritability Wormian bones Lymphoma Iris coloboma Downturned corners of mouth Genu valgum Pectus carinatum Pulmonic stenosis Telecanthus Wide nose Generalized hirsutism Pruritus Low anterior hairline Leukemia Abnormality of the voice Gastrointestinal hemorrhage Short distal phalanx of finger Glomerulonephritis Thick eyebrow Thin vermilion border Abnormality of the fingernails Osteolysis Arnold-Chiari malformation Joint hyperflexibility Delayed puberty Coarse hair Synophrys Abnormality of the cardiovascular system Mitral valve prolapse Coarctation of aorta Hypsarrhythmia Aganglionic megacolon Skin ulcer Short toe Rough bone trabeculation Basilar invagination Ptosis Osteolytic defects of the phalanges of the toes Partial absence of toe Hypoplastic 5th lumbar vertebrae Platybasia Respiratory arrest Premature loss of permanent teeth Abnormality of the skeletal system Bowing of the long bones Thickened skin Basilar impression Flank pain Biconcave vertebral bodies Absent frontal sinuses Delayed speech and language development Dental malocclusion Open bite Kyphoscoliosis Delayed cranial suture closure Prominent occiput Full cheeks Intestinal malrotation Hypertrophic cardiomyopathy Hypoglycemia Patellar dislocation Aortic valve stenosis Periodontitis Dolichocephaly Mitral stenosis Abnormal heart morphology Decreased skull ossification Respiratory tract infection Osteolytic defects of the phalanges of the hand Parathyroid adenoma Cafe-au-lait spot Diplopia Numerous pigmented freckles Abnormality of amino acid metabolism Squamous cell carcinoma of the skin Arteriosclerosis Poikiloderma Prematurely aged appearance Basal cell carcinoma Urticaria Dermal atrophy Melanoma Cutaneous photosensitivity Bicuspid aortic valve Skin rash Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Carcinoma Nephroblastoma Neurofibrosarcoma Hemiareflexia Schizophrenia Hip dysplasia Arthrogryposis multiplex congenita Intellectual disability, moderate Gastroesophageal reflux Atrial septal defect Hypoplasia of the corpus callosum Talipes equinovarus Frontal bossing Strabismus Hemifacial hypertrophy Skeletal muscle hypertrophy Embryonal neoplasm Hepatoblastoma Asymmetry of the thorax Asymmetric growth Adrenocortical adenoma Hemihypertrophy Communicating hydrocephalus Myelomeningocele Increased circulating cortisol level Impaired pain sensation Multiple lipomas Optic nerve glioma Neuroma Spina bifida Freckling Brain neoplasm Myocardial fibrosis Neoplasm of the endocrine system Meningioma Gangrene Increased reactive oxygen species production Overweight Severe vision loss Osteomalacia Multiple cafe-au-lait spots Tibial bowing Aqueductal stenosis Pulmonary fibrosis Hypophosphatemia Sensory axonal neuropathy Clitoral hypertrophy Precocious puberty Back pain Sarcoma Incoordination Breast carcinoma Reduced bone mineral density Venous thrombosis Astrocytoma Umbilical hernia Vestibular Schwannoma Gastrointestinal stroma tumor Embryonal rhabdomyosarcoma Axillary freckling Renovascular hypertension Renal artery stenosis Single ventricle Pseudoarthrosis Soft tissue sarcoma Epigastric pain Dural ectasia Fibular bowing Neoplasm of the central nervous system Complete atrioventricular canal defect Lisch nodules Chronic myelogenous leukemia Renal phosphate wasting Schwannoma Glioma Nasolacrimal duct obstruction Rhabdomyosarcoma Carcinoid tumor Paraganglioma Night sweats Anomalous pulmonary venous return Joint laxity Thromboembolism Coarse facial features Leukodystrophy Progressive spasticity Opisthotonus Global brain atrophy Postural tremor Decreased nerve conduction velocity CNS hypomyelination Spastic tetraparesis EMG abnormality Horizontal nystagmus Clonus Hyperactive deep tendon reflexes Progressive muscle weakness Frequent falls Tetraparesis Optic disc pallor Brain atrophy Generalized myoclonic seizures Falls Abnormality of the cerebral white matter Protruding ear Ankle clonus Episodic fever Developmental regression Diarrhea Bilateral sensorineural hearing impairment Hypotension Coma Polyneuropathy Paraplegia Facial palsy Constipation Hyporeflexia Areflexia Abnormal flash visual evoked potentials Autoimmune thrombocytopenia Unexplained fevers Decerebrate rigidity Abnormal nerve conduction velocity CNS demyelination Aplasia/Hypoplasia of the abdominal wall musculature Cloverleaf skull Abnormality of the thumb Motor deterioration Diffuse cerebral atrophy Pallor Muscular hypotonia of the trunk Vasculitis Blurred vision Extrapyramidal muscular rigidity Loss of facial expression Normal pressure hydrocephalus Dysesthesia Supranuclear gaze palsy Visual hallucinations Delusions Muscle fibrillation Visual field defect Personality changes Hyperhidrosis Language impairment Truncal ataxia Cerebral visual impairment Choreoathetosis Abnormal cerebellum morphology Abnormal pyramidal sign Myoclonus Encephalopathy Myopathy Hirano bodies Neurological speech impairment EEG abnormality Pancreatic cysts Pes cavus Abnormality of metabolism/homeostasis Neoplasm of the middle ear Vascular neoplasm Retinal capillary hemangioma Papillary cystadenoma of the epididymis Neuroendocrine neoplasm Abnormality of the lymphatic system Visceral angiomatosis Abnormality of the pancreas Nausea and vomiting Abnormality of the retinal vasculature Abnormality of the cerebral vasculature Arteriovenous malformation Capillary hemangioma Telangiectasia of the skin Aplasia/Hypoplasia of the cerebellum Increased intracranial pressure Multicystic kidney dysplasia Retinal detachment Cardiomegaly Abnormal autonomic nervous system physiology Arthralgia Atrophy of the spinal cord Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Delirium Abnormality of macular pigmentation Chronic hemolytic anemia Methylmalonic acidemia Hemolytic-uremic syndrome Cystathioninuria Right ventricular failure Gastritis Homocystinuria Methylmalonic aciduria Cor pulmonale Megaloblastic anemia Disproportionate tall stature Ectopia lentis Slurred speech Vitamin B12 deficiency Hypomethioninemia Anorexia Ventricular septal defect Skeletal dysplasia Narrow mouth Patent ductus arteriosus Malar flattening Long philtrum Kyphosis Splenomegaly Short neck Anteverted nares Downslanted palpebral fissures Decreased methylmalonyl-CoA mutase activity Myopia Wide nasal bridge Brachydactyly Hepatomegaly Cleft palate Micrognathia Thyroglossal cyst Cystathioninemia Diffuse hepatic steatosis Abnormality of retinal pigmentation Recurrent urinary tract infections Atrioventricular block Stroke-like episode Growth delay Amyloid deposition in the vitreous humor Cardiac amyloidosis Vitreous floaters Orthostatic hypotension due to autonomic dysfunction Psychomotor deterioration Urinary retention Sensory ataxia Abnormal renal physiology Multiple myeloma Thrombocytopenia Restrictive cardiomyopathy Amyloidosis Decreased number of peripheral myelinated nerve fibers Orthostatic hypotension Axonal degeneration Malnutrition Impotence Cerebral hemorrhage Rheumatoid arthritis Intellectual disability, severe Cerebral cortical atrophy Broad-based gait Hemolytic anemia Pulmonary arterial hypertension Psychosis Pancytopenia Abnormality of extrapyramidal motor function Pigmentary retinopathy Aciduria Neutropenia Metabolic acidosis Hepatic steatosis Long face Acidosis Retinal degeneration Smooth philtrum Lower limb muscle weakness Congenital cataract Lethargy Feeding difficulties in infancy Proteinuria Difficulty walking Macrotia High forehead Relative macrocephaly


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Pectus excavatum, related diseases and genetic alterations Microphthalmia and Highly arched eyebrow, related diseases and genetic alterations Hepatomegaly and Distal muscle weakness, related diseases and genetic alterations