Hyperreflexia, and Neoplasm of the pancreas

Diseases related with Hyperreflexia and Neoplasm of the pancreas

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

Top matches:

Low match LYNCH SYNDROME

LYNCH SYNDROME Is also known as coca2|colon cancer, familial nonpolyposis, type 2|fcc2

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscular hypotonia
  • Flexion contracture
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYNCH SYNDROME

PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 Is also known as pnca2

Related symptoms:

  • Neoplasm of the pancreas


SOURCES: OMIM MENDELIAN

More info about PANCREATIC CANCER, SUSCEPTIBILITY TO, 2

PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS Is also known as lipodystrophy, partial, with congenital cataracts and neurodegeneration

Related symptoms:

  • Ataxia
  • Nystagmus
  • Micrognathia
  • Cataract
  • Babinski sign


SOURCES: OMIM MENDELIAN

More info about PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS

Other less relevant matches:

DECR deficiency is a rare autosomal recessive inborn error of metabolism resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic dysfunction beginning in early infancy. Laboratory studies show decreased activity of the mitochondrial NADP(H)-dependent enzymes DECR1 (OMIM ) and AASS (OMIM ), resulting in increased C10:2-carnitine levels and hyperlysinemia (summary by Houten et al., 2014).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 2,4-DIENOYL-COA REDUCTASE DEFICIENCY; DECRD

Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HOYERAAL-HREIDARSSON SYNDROME

X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.

X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA Is also known as xlisg|xlag (x-linked lissencephaly with abnormal genitalia) syndrome|lissencephaly, x-linked, with ambiguous genitalia|x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome|xlag|x-linked lissencephaly with ambiguous genitalia

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA

Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.

LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY Is also known as mrxsarts|arts syndrome|mental retardation, x-linked, syndromic, arts type|mrxs18|mental retardation, x-linked, syndromic 18|ataxia, fatal x-linked, with deafness and loss of vision

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY

Low match MEHMO SYNDROME

MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEHMO SYNDROME

Autosomal recessive cerebellar ataxia due to STUB1 deficiency is a rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY Is also known as scar16|spinocerebellar ataxia autosomal recessive type 16

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY

Low match BEHÇET DISEASE

Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BEHÇET DISEASE

Top 5 symptoms//phenotypes associated to Hyperreflexia and Neoplasm of the pancreas

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertonia Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Pancreatitis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hyperreflexia and Neoplasm of the pancreas. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ataxia Nystagmus Intellectual disability Ventriculomegaly Spasticity Microcephaly Muscular hypotonia Babinski sign Gait disturbance Neoplasm Cryptorchidism Memory impairment Gastrointestinal hemorrhage Alopecia Paresthesia Growth delay Malabsorption Gait ataxia Hearing impairment Visual impairment Cataract Micrognathia

Rare Symptoms - Less than 30% cases

Severe global developmental delay Muscular hypotonia of the trunk Retinopathy Acidosis Neonatal hypotonia Hypoplasia of penis Small for gestational age Behavioral abnormality Pneumonia Fatigue Cerebral cortical atrophy Micropenis Clonus Dysarthria Iridocyclitis Immunodeficiency Cerebellar hypoplasia Long philtrum Diarrhea Hyporeflexia Hypospadias Motor delay Uveitis Failure to thrive Hyperactivity Diabetes mellitus Difficulty walking Attention deficit hyperactivity disorder Increased intracranial pressure Visual loss Migraine Short stature Nausea and vomiting Neurological speech impairment Abnormal pyramidal sign Epiphora Irritability Developmental regression Truncal ataxia Carcinoma Weight loss Abdominal pain Aggressive behavior Absent speech Dysphagia Tetraplegia Peripheral neuropathy Lower limb spasticity Drooling Hypogonadism Optic atrophy Glaucoma Hypoplasia of the corpus callosum Pancreatic adenocarcinoma Gliosis Decreased testicular size Abnormal facial shape Strabismus Parietal cortical atrophy Cognitive impairment Blindness Myoclonus Rigidity Hypothyroidism Distal amyotrophy Ophthalmoplegia Limb ataxia Postural tremor Adducted thumb External ophthalmoplegia Oculomotor apraxia Type I diabetes mellitus Horizontal nystagmus Type II diabetes mellitus Infertility Progressive cerebellar ataxia Postural instability Sensory neuropathy Tremor Peripheral axonal neuropathy Unsteady gait Arachnodactyly Cerebellar atrophy Broad nasal tip Tall chin Myopia Cleft lip Hypoglycemia EEG abnormality Macrotia Autism Obesity Intellectual disability, severe Talipes equinovarus Delayed speech and language development Poor speech Cleft palate Spinal cord posterior columns myelin loss Increased urinary hypoxanthine Muscle mounding Pancreatic fibrosis Low frustration tolerance Gout Arnold-Chiari type I malformation Decreased nerve conduction velocity Delayed puberty Lactic acidosis Birth length less than 3rd percentile Open mouth Abdominal obesity Male hypogonadism Large earlobe Depressed nasal tip External genital hypoplasia Agitation Widely spaced teeth Spastic tetraparesis Progressive microcephaly Tetraparesis Long face Sloping forehead Growth hormone deficiency Round face Full cheeks Gaze-evoked nystagmus Tapered finger Downturned corners of mouth Thick vermilion border Inability to walk Sensory axonal neuropathy Splenomegaly Ankle clonus Pericarditis Cerebral ischemia Myositis Raynaud phenomenon Gangrene Pulmonary infiltrates Pustule Aseptic necrosis Pulmonary embolism Hemoptysis Keratoconjunctivitis sicca Arterial thrombosis Glomerulopathy Blurred vision Inflammation of the large intestine Acne Rheumatoid arthritis Pleural effusion Encephalitis Venous thrombosis Cranial nerve paralysis Abnormal myocardium morphology Recurrent aphthous stomatitis Vasculitis Posterior uveitis Decreased level of D-mannose in urine Epididymitis Genital ulcers Panuveitis Superficial thrombophlebitis Orchitis Retrobulbar optic neuritis Iritis Increased inflammatory response Anterior uveitis Stomatitis Optic neuritis Chorioretinitis Immunologic hypersensitivity Erythema nodosum Thrombophlebitis Pleuritis Oral ulcer Endocarditis Alopecia areata Aortic regurgitation Meningitis Colitis Speech apraxia Renal insufficiency Fever Pain Abnormal motor evoked potentials Abnormality of the sella turcica Old-aged sensorineural hearing impairment Abnormal involuntary eye movements Delayed menarche Saccadic smooth pursuit Impaired proprioception Dilatation Ulcerative colitis Corpus callosum atrophy Head tremor Hypoplasia of the pons Progeroid facial appearance Oligomenorrhea Hand tremor Retinal atrophy Hyperactive deep tendon reflexes Headache Reduced visual acuity Anorexia Papule Subcutaneous nodule Mitral regurgitation Hemiparesis Myocardial infarction Abnormal blistering of the skin Chest pain Vertigo Lymphadenopathy Confusion Cough Dyspnea Stroke Autoimmunity Scarring Joint stiffness Erythema Arthritis Myalgia Photophobia Arthralgia Recurrent upper respiratory tract infections Thin upper lip vermilion Sensorimotor neuropathy Encephalopathy Global brain atrophy Abnormality of mitochondrial metabolism Aspiration Leukodystrophy Cerebral visual impairment Choreoathetosis Spastic tetraplegia Apnea Cerebral atrophy Central hypotonia Dystonia Decreased adipose tissue around neck Lack of facial subcutaneous fat Loss of subcutaneous adipose tissue in limbs Absence of subcutaneous fat Orthostatic hypotension Brisk reflexes Glucose intolerance Renal tubular acidosis Aspiration pneumonia Hypercholesterolemia Hyperhidrosis Hypopigmentation of the skin Cirrhosis Abnormality of skin pigmentation Carious teeth Nail dystrophy Leukemia Postnatal growth retardation Hepatosplenomegaly Osteoporosis Central apnea Thrombocytopenia Abnormality of the dentition Respiratory distress Intrauterine growth retardation Anemia Decreased plasma free carnitine Respiratory acidosis Hyperlysinemia Lipodystrophy Hyperlipidemia Cerebral calcification Visual field defect Dysgraphia Prostate cancer Intestinal polyposis Pituitary adenoma Hepatocellular carcinoma Ovarian neoplasm Neuroblastoma Colon cancer Basal cell carcinoma Leiomyosarcoma Hemiplegia/hemiparesis Breast carcinoma Hallucinations Dyskinesia Anxiety Constipation Depressivity Flexion contracture Amaurosis fugax Glioblastoma multiforme Acanthosis nigricans Lower limb muscle weakness Insulin resistance Abnormality of the face Hypertriglyceridemia Epidermal acanthosis Pigmentary retinopathy Hypotension Distal sensory impairment Dysmetria Congenital cataract Agnosia Rod-cone dystrophy Urinary tract neoplasm Cardiac diverticulum Neoplasm of the rectum Abnormality of creatine metabolism Neoplasm of the skeletal system Benign neoplasm of the central nervous system Neoplasm of the thyroid gland Sepsis Oligohydramnios Progressive muscle weakness Prominent forehead Pachygyria Ambiguous genitalia Specific learning disability Pulmonary hypoplasia Prominent nasal bridge Feeding difficulties in infancy High forehead Respiratory failure Agenesis of corpus callosum Postnatal microcephaly Patent ductus arteriosus Ventricular septal defect Wide nasal bridge High palate Low-set ears Anal mucosal leukoplakia Pterygium of nails Split nail Aganglionic megacolon Chronic diarrhea Fragile teeth Temperature instability Progressive visual loss Elevated serum creatine phosphokinase Areflexia Recurrent infections Intellectual disability, mild Respiratory insufficiency Sensorineural hearing impairment Type I lissencephaly Abnormality of temperature regulation Hypohidrosis Duane anomaly Long upper lip Hydranencephaly Profound global developmental delay Exocrine pancreatic insufficiency Infantile spasms Lissencephaly Wide anterior fontanel Generalized hypopigmentation of hair Brittle scalp hair Decreased fetal movement Abnormal intestine morphology Pulmonary fibrosis Flared metaphysis Squamous cell carcinoma Neonatal respiratory distress Myelodysplasia Pterygium Dermal atrophy Anosmia Leukopenia Abnormality of coagulation Sparse eyelashes Conjunctivitis Horseshoe kidney Bone marrow hypocellularity Hyperpigmentation of the skin Telangiectasia Sparse scalp hair Pancytopenia Premature graying of hair Increased antibody level in blood Reticulated skin pigmentation Testicular atrophy Phimosis Abnormal leukocyte morphology Reticular hyperpigmentation Urethral stenosis Lacrimal duct stenosis Keratoconjunctivitis Esophageal stricture Excessive wrinkled skin Ridged nail Restrictive ventilatory defect Aplastic anemia Oral leukoplakia Chromosome breakage Blepharitis Premature loss of teeth Hodgkin lymphoma Generalized hyperpigmentation Acute myeloid leukemia Myeloid leukemia Hypopyon


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