Hydrocephalus, and Weight loss

Diseases related with Hydrocephalus and Weight loss

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

Top matches:

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

Rhabdoid tumor predisposition syndrome-2 is an autosomal dominant cancer predisposition syndrome characterized by the onset in infancy, childhood, or young adulthood of various poorly differentiated tumors. Classically, tumors that arise in the central nervous system are referred to as atypical teratoid/rhabdoid tumors, whereas those arising in the kidney or other extracranial sites are referred to as malignant rhabdoid tumors. Tumors may also present as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), also known as malignant rhabdoid tumor of the ovary (MRTO). All of these tumors are highly aggressive and often fatal (summary by Foulkes et al., 2014).See also RTPS1 (OMIM ), which is caused by mutation in the SMARCB1 gene (OMIM ) on chromosome 22q11.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2

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:

High 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

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

In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Medium match ACHONDROPLASIA; ACH

Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

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

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

Top 5 symptoms//phenotypes associated to Hydrocephalus and Weight loss

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Ataxia Spasticity Anemia Hypertension Global developmental delay Visual impairment Vomiting Respiratory insufficiency Headache Tremor Neoplasm Muscle weakness Dysarthria Short stature Feeding difficulties Cognitive impairment Peripheral neuropathy Hyperreflexia Failure to thrive Generalized hypotonia Hyporeflexia Muscular hypotonia Clonus Blindness Abnormal facial shape Depressivity Macrocephaly Scoliosis Lymphoma Abnormality of skin pigmentation Leukemia Myelopathy Visual loss Paresthesia Malabsorption Dementia Increased CSF protein Paraparesis Peripheral demyelination Congestive heart failure Growth delay Hemiplegia Microcephaly Confusion Fever Cachexia Sarcoma

Rare Symptoms - Less than 30% cases

Constipation Progressive spasticity Cardiomyopathy Renal insufficiency Facial palsy Arthritis Sensorimotor neuropathy Nephropathy Gliosis Urinary incontinence Hypotension Spastic paraparesis Demyelinating peripheral neuropathy Leukodystrophy Tetraparesis Abnormal autonomic nervous system physiology Abnormality of the cerebral white matter Developmental regression Mental deterioration Rigidity EEG abnormality Reduced visual acuity Dilatation Behavioral abnormality Gait disturbance Thrombocytopenia Carcinoma Irritability Atherosclerosis Cataract Diplopia Frontal bossing Delayed speech and language development Aqueductal stenosis Megalencephaly Overgrowth Bowel incontinence Precocious puberty Recurrent urinary tract infections Sleep apnea Sleep disturbance Back pain Hyperlordosis Osteopenia Tibial bowing Optic atrophy Sensorineural hearing impairment Motor delay Ptosis Retinopathy Skin rash Cor pulmonale Chronic myelogenous leukemia Soft tissue sarcoma Leiomyosarcoma Astrocytoma Neurofibromas Anorexia Dry skin Glaucoma Malar flattening Nausea and vomiting Peripheral axonal neuropathy Hematuria Communicating hydrocephalus Neoplasm of the central nervous system Strabismus Hypertonia Pes cavus Pallor Cardiomegaly Pancytopenia Horizontal nystagmus Abnormality of the skeletal system Coarctation of aorta Generalized joint laxity Single ventricle Thoracolumbar kyphosis Recurrent ear infections Hypoxemia Multiple epiphyseal dysplasia Aganglionic megacolon Abnormality of femur morphology Central apnea Dysuria Upper airway obstruction Osteopetrosis Central sleep apnea Spinal cord compression Obstructive sleep apnea Abnormality of the elbow Spinal canal stenosis Renal artery stenosis Renovascular hypertension Reduced bone mineral density Hip contracture Axillary freckling Embryonal rhabdomyosarcoma Neonatal short-limb short stature Pseudoarthrosis Neuroblastoma Myelitis Acidosis Gait ataxia Gastrointestinal stroma tumor Cerebral cortical atrophy Fibular bowing Dural ectasia Intellectual disability, severe Low-set ears Incoordination Lumbar kyphosis in infancy Spinal stenosis with reduced interpedicular distance Epigastric pain Trident hand Limited hip extension Brain stem compression Childhood onset short-limb short stature Breast carcinoma Small foramen magnum Iritis Cervical cord compression Hypopnea Obstructive lung disease Cervical myelopathy Venous thrombosis Disproportionate short stature Hypsarrhythmia Cerebral artery stenosis Recurrent otitis media Osteoarthritis Inguinal freckling Epidermal acanthosis Lumbar hyperlordosis Spinal neurofibromas Otitis media Arterial fibromuscular dysplasia Oral cleft Micromelia Joint hyperflexibility Abnormality of the metaphysis Scarring Apnea Cleft lip Abnormality of the nervous system Conductive hearing impairment Arthralgia Skeletal dysplasia Gastroesophageal reflux Tibial pseudoarthrosis Severe short stature Obesity Abnormal form of the vertebral bodies Plexiform neurofibroma Myeloid leukemia Optic nerve glioma Vestibular Schwannoma Neuroma Limited elbow extension Short femoral neck Flared metaphysis Spondyloepiphyseal dysplasia Neurofibrosarcoma Spina bifida Chronic otitis media Epiphyseal dysplasia Genu varum Abnormal lung morphology Abnormality of pelvic girdle bone morphology Subcutaneous neurofibromas Tinnitus Disproportionate short-limb short stature Short long bone Infantile muscular hypotonia Acanthosis nigricans Short toe Rhizomelia Cafe-au-lait spot Acute promyelocytic leukemia Lisch nodules Renal phosphate wasting Mitral valve prolapse Cystathioninemia Autism Neoplasm of the endocrine system Hyperactivity Osteoporosis Abnormal heart morphology Abnormality of cardiovascular system morphology Intellectual disability, mild Hypertelorism Thyroglossal cyst Myocardial fibrosis Diffuse hepatic steatosis Meningioma Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Delirium Kyphoscoliosis Gangrene Chronic hemolytic anemia Renal cell carcinoma Sensory axonal neuropathy Hypophosphatemia Abnormality of the cardiovascular system Tetralogy of Fallot Specific learning disability Pulmonary fibrosis Freckling Multiple cafe-au-lait spots Gastrointestinal hemorrhage Osteomalacia Recurrent fractures Hypoglycemia Severe vision loss Facial asymmetry Genu valgum Pulmonic stenosis Pruritus Attention deficit hyperactivity disorder Overweight Paralysis Increased reactive oxygen species production Autistic behavior Hypertrophic cardiomyopathy Abnormality of macular pigmentation Methylmalonic acidemia High forehead Long face Psychosis Abnormality of extrapyramidal motor function Pigmentary retinopathy Memory impairment Aciduria Neutropenia Metabolic acidosis Hepatic steatosis Hemolytic anemia Joint hypermobility Retinal degeneration Broad-based gait Unsteady gait Smooth philtrum Lower limb muscle weakness Congenital cataract Lethargy Hip dislocation Feeding difficulties in infancy Bone pain Difficulty walking Macrotia Schwannoma Pulmonary arterial hypertension Glioma Brain neoplasm Clitoral hypertrophy Atrophy of the spinal cord Parathyroid adenoma Hemolytic-uremic syndrome Right ventricular failure Pheochromocytoma Gastritis Complete atrioventricular canal defect Anomalous pulmonary venous return Homocystinuria Methylmalonic aciduria Midface retrusion Abnormality of retinal pigmentation Night sweats Megaloblastic anemia Thromboembolism Paraganglioma Carcinoid tumor Disproportionate tall stature Rhabdomyosarcoma Apathy Ectopia lentis Slurred speech Nasolacrimal duct obstruction Proteinuria Sudden cardiac death Ventriculomegaly Sensory neuropathy Spastic tetraparesis Prematurely aged appearance EMG abnormality Poikiloderma Progressive muscle weakness Frequent falls Optic disc pallor Brain atrophy Generalized myoclonic seizures Neurodegeneration Falls Decreased nerve conduction velocity Protruding ear Muscular hypotonia of the trunk Recurrent respiratory infections Arteriosclerosis Abnormality of metabolism/homeostasis Squamous cell carcinoma of the skin Abnormality of amino acid metabolism Numerous pigmented freckles Abdominal pain Lymphadenopathy Subcutaneous nodule CNS hypomyelination Postural tremor Aortic arch calcification CNS demyelination Polyneuropathy Paraplegia Dermal atrophy Urticaria Areflexia Arrhythmia Diarrhea Abnormal flash visual evoked potentials Unexplained fevers Decerebrate rigidity Abnormal nerve conduction velocity Aplasia/Hypoplasia of the abdominal wall musculature Hemiplegia/hemiparesis Cloverleaf skull Abnormality of the thumb Motor deterioration Diffuse cerebral atrophy Basal cell carcinoma Autoimmune thrombocytopenia Episodic fever Hyperactive deep tendon reflexes Ankle clonus Opisthotonus Global brain atrophy Cardiovascular calcification Abnormal common carotid artery morphology Migraine Splenomegaly Opacification of the corneal stroma Aortic valve stenosis Decreased body weight Mitral regurgitation Ventricular hypertrophy Ophthalmoplegia Generalized tonic-clonic seizures Corneal opacity Hepatosplenomegaly Brachycephaly Cranial nerve paralysis Cerebral palsy Aortic regurgitation Respiratory distress Hepatomegaly Internal hemorrhage Embryonal neoplasm Teratoma Oculomotor nerve palsy Neoplasm of the liver Renal neoplasm Poor appetite Ovarian neoplasm Nephroblastoma Oculomotor apraxia Heart murmur Hypometric horizontal saccades Corneal crystals Slowed horizontal saccades Cardiac valve calcification Abnormality of toe Decreased beta-glucocerebrosidase protein and activity Bacterial endocarditis Calcification of the aorta Elevated serum acid phosphatase Abnormal aortic arch morphology Spontaneous, recurrent epistaxis Supranuclear ophthalmoplegia Mitral valve calcification Abnormal saccadic eye movements Exertional dyspnea Aortic valve calcification Reticular hyperpigmentation Abnormal aortic morphology Abnormality of the pulmonary artery Abnormal aortic valve morphology Abnormal mitral valve morphology Foam cells Supranuclear gaze palsy Mitral stenosis Abnormal EKG Abnormal heart valve morphology Coma Neuronal loss in central nervous system Brachydactyly Agenesis of corpus callosum Tetraplegia Dysmetria Abnormality of eye movement Neurological speech impairment Cough Abnormal pyramidal sign Hypothyroidism Respiratory failure Diabetes mellitus Hyperhidrosis Kyphosis Chorea Short neck Dysphagia High palate Neuroblastic tumors Pineoblastoma Retinal calcification Pinealoma Iris neovascularization Pineal cyst Ewing sarcoma Hyphema Hypercalcemia Amenorrhea Sebaceous gland carcinoma Hypothermia Depressed nasal bridge Flexion contracture Diffuse demyelination of the cerebral white matter Microcoria Hyperpigmented nevi Recurrent singultus Progressive macrocephaly Pseudobulbar signs Large face Hypersomnia Bulbar signs Poor coordination Cerebral calcification Drowsiness Atrophy/Degeneration affecting the brainstem Muscle fibrillation Dysphasia Emotional lability Oral-pharyngeal dysphagia Self-injurious behavior Encephalitis Dysphonia Leukoencephalopathy Muscle stiffness Neoplasm of the eye Liposarcoma Bilateral sensorineural hearing impairment Amyloidosis Orthostatic hypotension due to autonomic dysfunction Psychomotor deterioration Urinary retention Sensory ataxia Abnormal renal physiology Melanoma Constrictive median neuropathy Stroke-like episode Multiple myeloma Restrictive cardiomyopathy Syringomyelia Decreased number of peripheral myelinated nerve fibers Cardiac amyloidosis Orthostatic hypotension Axonal degeneration Aphasia Malnutrition Impotence Cerebral hemorrhage Rheumatoid arthritis Atrioventricular block Vasculitis Hallucinations Hemiparesis Vitreous floaters Amyloid deposition in the vitreous humor Histiocytoma Buphthalmos Vitritis Burkitt lymphoma Fibrosarcoma Glioblastoma multiforme Malar rash Leukocoria Anisocoria Ocular pain Vitreous hemorrhage Retinoblastoma Inflammatory abnormality of the eye Acute monocytic leukemia Cleft palate Anemia of inadequate production Osteosarcoma Chromosome breakage Uveitis Acute myeloid leukemia Cellulitis Myelodysplasia Increased intracranial pressure Postural instability Cutaneous photosensitivity Proptosis Brow ptosis


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