Hydrocephalus, and Vomiting

Diseases related with Hydrocephalus and Vomiting

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

Top matches:

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.

METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa racemase deficiency|methylmalonyl-coa racemase deficiency|methylmalonic aciduria due to methylmalonyl-coa racemase deficiency|methylmalonic aciduria due to methylmalonyl-coa epimerase deficiency|mcee deficie

Related symptoms:

  • Failure to thrive
  • Spasticity
  • Motor delay
  • Macrocephaly
  • Hydrocephalus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY

Congenital hydrocephalus-1 is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012).Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (OMIM ), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (OMIM ) and in Hurler disease (OMIM ). Genetic Heterogeneity of Congenital HydrocephalusSee also HYC2 (OMIM ), caused by mutation in the MPDZ gene (OMIM ) on chromosome 9p23, and HYC3 (OMIM ), caused by mutation in the WDR81 gene (OMIM ) on chromosome 17p13.An X-linked form of congenital hydrocephalus (HSAS, HYCX; {307000}) is caused by mutation in the L1CAM gene on (OMIM ) on chromosome Xq28.

HYDROCEPHALUS, CONGENITAL, 1; HYC1 Is also known as hydrocephaly|hydrocephalus, nonsyndromic, autosomal recessive 1, formerly|ventriculomegaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Macrocephaly
  • Ventriculomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 1; HYC1

Related symptoms:

  • Failure to thrive
  • Strabismus
  • Anemia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8

Other less relevant matches:

Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.

NEONATAL GLYCINE ENCEPHALOPATHY Is also known as classic glycine encephalopathy|neonatal nkh|nkh|neonatal non-ketotic hyperglycinemia|hyperglycinemia, nonketotic

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL GLYCINE ENCEPHALOPATHY

Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by Safaee et al., 2013).

PAPILLOMA OF CHOROID PLEXUS; CPP Is also known as choroid plexus papilloma

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about PAPILLOMA OF CHOROID PLEXUS; CPP

Medium match CRANIOPHARYNGIOMA

Craniopharyngiomas are benign slow growing tumours that are located within the sellar and parasellar regions of the central nervous system.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about CRANIOPHARYNGIOMA

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

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

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

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

Top 5 symptoms//phenotypes associated to Hydrocephalus and Vomiting

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Headache Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Irritability Optic atrophy Neoplasm Hearing impairment Ataxia Feeding difficulties Lethargy Coma Blindness Increased intracranial pressure Thrombocytopenia Failure to thrive Recurrent infections Visual loss Visual impairment Fever Behavioral abnormality Weight loss Peripheral demyelination Muscular hypotonia Leukopenia Macrocephaly

Rare Symptoms - Less than 30% cases

Hyporeflexia Apnea Hyperreflexia Neutropenia Microcephaly Abnormal facial shape Nausea and vomiting Carcinoma Sensorineural hearing impairment Pain Increased CSF protein Spastic paraparesis Paraparesis Rigidity Tremor Muscle weakness Orthostatic hypotension Nausea Impotence Hypotension Constipation Arrhythmia Osteosarcoma Papilledema Sleep apnea Generalized hypotonia Peripheral neuropathy Prominent forehead Strabismus Hypoplasia of the corpus callosum Aciduria Anemia Mental deterioration Splenomegaly Hepatosplenomegaly Diarrhea Facial palsy Motor delay Dilatation Brain atrophy Acidosis Gait disturbance Hepatomegaly Intellectual disability, severe Generalized edema White hair Abnormality of lipid metabolism Edema of the lower limbs Abnormal eyebrow morphology Abnormal eyelash morphology Pulmonary infiltrates Partial albinism Iris hypopigmentation Petechiae Premature graying of hair Albinism Hemophagocytosis Uncontrolled eye movements Abnormality of neutrophils Areflexia Peripheral axonal neuropathy Paresthesia Paraplegia Malabsorption Arthritis Dementia Renal insufficiency Reduced delayed hypersensitivity Congestive heart failure Cardiomyopathy Dysarthria Accumulation of melanosomes in melanocytes Melanin pigment aggregation in hair shafts Silver-gray hair Cutaneous anergy Pyloric stenosis Bone marrow hypocellularity Hypopigmented skin patches Abnormality of the thumb Unexplained fevers Decerebrate rigidity Abnormal nerve conduction velocity CNS demyelination Aplasia/Hypoplasia of the abdominal wall musculature Cloverleaf skull Demyelinating peripheral neuropathy Motor deterioration Short stature Diffuse cerebral atrophy Autoimmune thrombocytopenia Episodic fever Hyperactive deep tendon reflexes Ankle clonus Progressive spasticity Opisthotonus Abnormal flash visual evoked potentials Edema Reduced tendon reflexes Hepatitis Cranial nerve paralysis Hyperlipidemia Recurrent bacterial infections Polyneuropathy Encephalocele Progressive neurologic deterioration Pancytopenia Decreased antibody level in blood Immunodeficiency Sepsis Abnormal cerebellum morphology Ascites Hypopigmentation of the skin Lymphadenopathy Abnormality of movement Jaundice Nephropathy Bilateral sensorineural hearing impairment Gliosis Anemia of inadequate production Ocular pain Vitreous hemorrhage Retinoblastoma Inflammatory abnormality of the eye Buphthalmos Astrocytoma Acute monocytic leukemia Chromosome breakage Leiomyosarcoma Uveitis Acute myeloid leukemia Cellulitis Neurofibromas Myelodysplasia Sarcoma Anorexia Anisocoria Soft tissue sarcoma Postural instability Neoplasm of the eye Pineoblastoma Retinal calcification Pinealoma Iris neovascularization Pineal cyst Ewing sarcoma Hyphema Sebaceous gland carcinoma Leukocoria Liposarcoma Histiocytoma Vitritis Burkitt lymphoma Fibrosarcoma Glioblastoma multiforme Malar rash Lymphoma Abnormality of skin pigmentation Urinary incontinence Atrioventricular block Decreased number of peripheral myelinated nerve fibers Axonal degeneration Aphasia Malnutrition Cerebral hemorrhage Rheumatoid arthritis Cachexia Abnormal autonomic nervous system physiology Syringomyelia Vasculitis Hallucinations Hemiparesis Cardiomegaly Hemiplegia/hemiparesis Neuronal loss in central nervous system Migraine Amyloidosis Restrictive cardiomyopathy Leukemia Cardiac amyloidosis Skin rash Proptosis Glaucoma Malar flattening Cataract Cleft palate Amyloid deposition in the vitreous humor Vitreous floaters Multiple myeloma Orthostatic hypotension due to autonomic dysfunction Psychomotor deterioration Urinary retention Sensory ataxia Abnormal renal physiology Myelopathy Constrictive median neuropathy Stroke-like episode Global brain atrophy Horizontal nystagmus Postural tremor Midface retrusion Hydronephrosis High forehead Micropenis Respiratory failure Pneumonia Depressivity Atrial septal defect Intraventricular hemorrhage Talipes equinovarus Abnormality of the skeletal system Low-set ears Cryptorchidism Hypertelorism Pill-rolling tremor Recurrent singultus Normal pressure hydrocephalus Delayed eruption of teeth Nonketotic hyperglycinemia Broad ribs Fatigue Growth delay Arnold-Chiari malformation Choroid plexus carcinoma Choroid plexus papilloma Papilloma Communicating hydrocephalus Choanal stenosis Macroglossia Broad neck Aqueductal stenosis Upper limb undergrowth Loss of consciousness Dilated fourth ventricle Hydranencephaly Hypertrichosis Episodic ketoacidosis Delirium Spontaneous abortion Agenesis of corpus callosum Aggressive behavior Abnormality of the nervous system Neonatal hypotonia Autism Hyperactivity Myoclonus Encephalopathy Autistic behavior Intellectual disability, mild Triangular face Hypertension Short chin Short femoral neck Osteopetrosis Increased head circumference Intellectual disability, moderate Attention deficit hyperactivity disorder Posterior fossa cyst Spastic diplegia Hyperglycinuria Vertical supranuclear gaze palsy Hyperglycinemia Ketoacidosis Restlessness Weak cry Infantile spasms Impulsivity Severe global developmental delay Poor suck Limb ataxia Choreoathetosis Hypsarrhythmia Intellectual disability, profound Chorea Frontal bossing Obesity Polymicrogyria Hemiplegia Pes cavus Pallor Developmental regression Muscular hypotonia of the trunk Metabolic acidosis EEG abnormality Reduced visual acuity Recurrent respiratory infections Abnormality of the cerebral white matter Abnormality of metabolism/homeostasis Hypertonia Dehydration Tachypnea Ketonuria Methylmalonic aciduria Cognitive impairment Protruding ear Falls Ventriculomegaly Leukodystrophy Decreased nerve conduction velocity CNS hypomyelination Spastic tetraparesis Dystonia EMG abnormality Increased density of long bones Sensorimotor neuropathy Clonus Sensory neuropathy Progressive muscle weakness Frequent falls Tetraparesis Optic disc pallor Gastroesophageal reflux Generalized myoclonic seizures Neurodegeneration Methylmalonic acidemia Abnormality of the frontal bone Hypogonadism Sleep disturbance Increased susceptibility to fractures Hypogonadotrophic hypogonadism Increased body weight Myocardial infarction Type II diabetes mellitus Cerebral calcification Amenorrhea Vertigo Polyphagia Confusion Delayed puberty Stroke Postnatal growth retardation Anxiety Hypoglycemia Hypothyroidism Diabetes insipidus Hypopituitarism Abnormality of the nasal bone Slow decrease in visual acuity Abnormal hypothalamus morphology Neoplasm of the anterior pituitary Intracranial cystic lesion Abnormal visual field test Craniopharyngioma Progressive visual field defects Enlarged pituitary gland Bitemporal hemianopia Proportionate short stature Sudden loss of visual acuity Central adrenal insufficiency Central diabetes insipidus Cerebral ischemia Pituitary hypothyroidism Excessive daytime somnolence Prolactin excess Neuroblastic tumors


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