Ataxia, and Neoplasm of the pancreas

Diseases related with Ataxia and Neoplasm of the pancreas

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


Top matches:

Low match PANCREATIC CANCER


Pancreatic cancer shows among the highest mortality rates of any cancer, with a 5-year relative survival rate of less than 5%. By the time of initial diagnosis, metastatic disease is commonly present. Established risk factors include a family history of pancreatic cancer, a medical history of diabetes type 2, and cigarette smoking (summary by Amundadottir et al., 2009). Genetic Heterogeneity of Pancreatic CancerSomatic mutations in pancreatic cancer occur in the KRAS (OMIM ), CDKN2A (OMIM ), MADH4 (OMIM ), TP53 (OMIM ), ARMET (OMIM ), STK11 (OMIM ), ACVR1B (OMIM ), and RBBP8 (OMIM ) genes.Susceptibility loci for pancreatic cancer include PNCA1 (OMIM ), related to mutation in the PALLD gene on chromosome 4q32 (OMIM ); PNCA2 (OMIM ), related to mutation in the BRCA2 gene on chromosome 13q12 (OMIM ); PNCA3 (OMIM ), related to mutation in the PALB2 gene on chromosome 16p12 (OMIM ); and PNCA4 (OMIM ), related to mutation in the BRCA1 gene on chromosome 17q21 (OMIM ). Occurrence of Pancreatic Cancer in Other DisordersSeveral familial cancer syndromes increase the risk of pancreatic cancer. The best characterized include hereditary nonpolyposis colon cancer syndrome (HNPCC; see {120435}); hereditary breast-ovarian cancer syndrome due to mutations in BRCA2; Peutz-Jeghers syndrome (OMIM ); the melanoma-pancreatic cancer syndrome (OMIM ), caused by mutations in CDKN2A (OMIM ); von Hippel-Lindau syndrome (OMIM ), ataxia-telangiectasia (OMIM ) (Swift et al., 1976), and juvenile polyposis syndrome (OMIM ).Patients with hereditary pancreatitis (OMIM ) resulting from gain-of-function mutations in the protease serine-1 gene (PRSS1 ) have a lifetime pancreatic cancer risk ratio of 57 and a cumulative incidence, to age 70 years, of 40% (Lowenfels et al., 1997).

PANCREATIC CANCER Is also known as pancreatic carcinoma|pancreatic acinar carcinoma

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Fatigue
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about PANCREATIC CANCER

Low match DYSKERATOSIS CONGENITA


Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

DYSKERATOSIS CONGENITA Is also known as dkc|dc|dyskeratosis congenita, scoggins type|zinsser-engman-cole syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA

Low match HOYERAAL-HREIDARSSON SYNDROME


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

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Other less relevant matches:

Low match PANCREATIC CANCER, SUSCEPTIBILITY TO, 2


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

Low match FAMILIAL MELANOMA


Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.

Related symptoms:

  • Retinopathy
  • Dry skin
  • Nevus
  • Abnormality of extrapyramidal motor function
  • Abnormality of the hair


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL MELANOMA

Low match PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS


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

Low match INFANTILE MYOFIBROMATOSIS


Infantile myofibromatosis (IM) is a rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. IM contains myofibroblasts.

INFANTILE MYOFIBROMATOSIS Is also known as myofibromatosis, juvenile|cgf|fibromatosis, congenital generalized

Related symptoms:

  • Neoplasm
  • Pain
  • Abnormality of the kidney
  • Abnormality of the eye
  • Limitation of joint mobility


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INFANTILE MYOFIBROMATOSIS

Low match PROGRESSIVE ENCEPHALOPATHY WITH LEUKODYSTROPHY DUE TO DECR DEFICIENCY


Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.

PROGRESSIVE ENCEPHALOPATHY WITH LEUKODYSTROPHY DUE TO DECR DEFICIENCY Is also known as 2,4-dienoyl-coa reductase deficiency|decr deficiency with hyperlysinemia

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PROGRESSIVE ENCEPHALOPATHY WITH LEUKODYSTROPHY DUE TO DECR DEFICIENCY

Low match CLASSIC MAPLE SYRUP URINE DISEASE


Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD (see this term) characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.

CLASSIC MAPLE SYRUP URINE DISEASE Is also known as keto acid decarboxylase deficiency|classic branched-chain ketoaciduria|classic branched-chain alpha-ketoacid dehydrogenase deficiency|classic msud|bckd deficiency|classic bckd deficiency|branched-chain ketoaciduria|branched-chain alpha-keto acid dehydroge

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLASSIC MAPLE SYRUP URINE DISEASE

Low match PERMANENT NEONATAL DIABETES MELLITUS


Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

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

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Pancreatitis Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Abnormal intestine morphology Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Osteoporosis Intrauterine growth retardation Cataract Growth delay Hearing impairment Microcephaly Seizures Retinopathy Failure to thrive Weight loss

Rare Symptoms - Less than 30% cases


Abnormality of the hair Pulmonary fibrosis Epiphora Tracheoesophageal fistula Myelodysplasia Dermal atrophy Abnormality of coagulation Ketonuria Neoplasm of the skin Nystagmus Bone marrow hypocellularity Skin ulcer Hyperpigmentation of the skin Premature graying of hair Premature loss of teeth Neurofibromas Generalized hypotonia Blepharitis Oral leukoplakia Muscular hypotonia Aplastic anemia Cerebral calcification Hypertonia Ridged nail Ventriculomegaly Coma Abnormality of the face Urethral stenosis Reticular hyperpigmentation Pancytopenia Testicular atrophy Pancreatic adenocarcinoma Nail dystrophy Short stature Anemia Abnormality of the dentition Diabetes mellitus Immunodeficiency Thrombocytopenia Cerebellar hypoplasia Hyperhidrosis Melanoma Pain Leukemia Alopecia Carious teeth Abnormality of skin pigmentation Cirrhosis Hepatic failure Carcinoma Telangiectasia Bone cyst Abnormality of connective tissue Abnormal sacrum morphology Fibroma Gingival fibromatosis Progressive spastic quadriplegia Chondrocalcinosis Abnormality of the skull Central sleep apnea Neoplasm of the lung Ankylosis Benign neoplasm of the central nervous system Cerebellar atrophy Nonprogressive cerebellar ataxia Hypoplasia of the corpus callosum Renal tubular acidosis Dystonia Neonatal hypotonia Choreoathetosis Cerebral visual impairment Decreased plasma carnitine Irregular hyperpigmentation Leukodystrophy Organic aciduria Aspiration pneumonia Progressive encephalopathy Downturned corners of mouth Abnormality of the thorax Neuroblastoma Abnormality of the kidney Clonus Acanthosis nigricans Hyperlipidemia Hypercholesterolemia Lipodystrophy Glucose intolerance Brisk reflexes Orthostatic hypotension Absence of subcutaneous fat Loss of subcutaneous adipose tissue in limbs Lack of facial subcutaneous fat Decreased adipose tissue around neck Abnormality of the eye Neonatal insulin-dependent diabetes mellitus Contractures of the joints of the lower limbs Limitation of joint mobility Abnormality of the metaphysis Subcutaneous nodule Gingival overgrowth Osteolysis Sarcoma Hemiplegia Hypercalcemia Hyperlysinemia Intestinal obstruction Hemiplegia/hemiparesis Abnormality of the musculature Abnormal involuntary eye movements Hypertension Abnormal basal ganglia MRI signal intensity Hyperglycemia Tetraplegia Otitis media Hepatitis Spastic tetraplegia Hallucinations Neurodevelopmental delay Cerebral palsy Increased intracranial pressure Growth abnormality Impulsivity Opisthotonus Ketosis Ketoacidosis Postural instability Bilateral ptosis Apraxia Dehydration Episodic ataxia Cerebral edema Generalized myoclonic seizures Increased level of hippuric acid in urine Elevated plasma branched chain amino acids Motor delay Intellectual disability, severe Abnormal heart morphology Generalized tonic-clonic seizures Arthrogryposis multiplex congenita Glycosuria Prominent metopic ridge Decreased activity of NADPH oxidase Depressivity Stress/infection-induced lactic acidosis Abnormality of carnitine metabolism Pancreatic hypoplasia Spasticity Feeding difficulties Peripheral axonal neuropathy Fever Vomiting Headache Hypovolemia Microalbuminuria Abnormality of the upper urinary tract Encephalopathy Lactic acidosis Hyperactivity Respiratory failure Acidosis Hypoglycemia Autoimmune antibody positivity Anxiety Feeding difficulties in infancy Irritability Lethargy Ophthalmoplegia Nausea and vomiting Renal tubular dysfunction Nausea Insulin resistance Lacrimal duct stenosis Hypertriglyceridemia Abnormality of neutrophils Telangiectasia of the skin Aseptic necrosis Abnormal eyelash morphology Abnormal eyebrow morphology Taurodontia Periodontitis White hair Abnormality of the testis Abnormality of female internal genitalia Cellular immunodeficiency Abnormality of the pharynx Squamous cell carcinoma of the skin Interstitial pneumonitis Skin vesicle Aplastic/hypoplastic toenail Porokeratosis Rough bone trabeculation Nail pits Anorectal anomaly Congenital bullous ichthyosiform erythroderma Displacement of the external urethral meatus Palmar hyperkeratosis Esophageal stenosis Absent lacrimal punctum Strabismus Cryptorchidism Visual impairment Aplasia/Hypoplasia of the skin Macule Respiratory distress Hyperkeratosis Fatigue Abdominal pain Jaundice Breast carcinoma Colon cancer Ovarian neoplasm Exocrine pancreatic insufficiency Chronic pancreatitis Increased level of L-fucose in urine Scoliosis Hepatomegaly Splenomegaly Recurrent respiratory infections Sparse hair Hypermelanotic macule Malabsorption Palmoplantar keratoderma Recurrent fractures Hypodontia Hypoplasia of the maxilla Lymphoma Nail dysplasia Abnormal blistering of the skin Specific learning disability Hepatic fibrosis Lymphopenia Abnormality of the fingernails Hypopigmented skin patches Optic atrophy Hypospadias Epidermal acanthosis Freckling Keratoconjunctivitis Abnormal leukocyte morphology Phimosis Reticulated skin pigmentation Brittle scalp hair Fragile teeth Generalized hypopigmentation of hair Split nail Pterygium of nails Anal mucosal leukoplakia Dry skin Nevus Abnormality of extrapyramidal motor function Abnormality of the lymphatic system Excessive wrinkled skin Neoplasm of the breast Neoplasm of the stomach Micrognathia Babinski sign Rod-cone dystrophy Gait ataxia Congenital cataract Lower limb muscle weakness Dysmetria Paresthesia Distal sensory impairment Hypotension Pigmentary retinopathy Esophageal stricture Chromosome breakage Hyporeflexia Truncal ataxia Cerebral cortical atrophy Hepatosplenomegaly Muscular hypotonia of the trunk Postnatal growth retardation Small for gestational age Hypopigmentation of the skin Sepsis Gliosis Gastrointestinal hemorrhage Decreased testicular size Oligohydramnios Decreased fetal movement Sparse scalp hair Horseshoe kidney Hodgkin lymphoma Conjunctivitis Sparse eyelashes Leukopenia Anosmia Pterygium Neonatal respiratory distress Squamous cell carcinoma Flared metaphysis Increased antibody level in blood Restrictive ventilatory defect Myeloid leukemia Acute myeloid leukemia Generalized hyperpigmentation Reduced pancreatic beta cells



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