Cataract, and Neoplasm of the pancreas

Diseases related with Cataract and Neoplasm of the pancreas

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

Top matches:

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

CATARACT 36; CTRCT36 Is also known as cataract, autosomal recessive congenital 4|catc4

Related symptoms:

  • Cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 36; CTRCT36

Other less relevant matches:

Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.

HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME Is also known as hereditary hyperferritinemia with congenital cataracts|bonneau-beaumont syndrome|hhcs

Related symptoms:

  • Cataract
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME

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

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

Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). Genetic Heterogeneity of Susceptibility to Cutaneous Malignant MelanomaThe locus for susceptibility to familial cutaneous malignant melanoma-1 (CMM1) has been mapped to chromosome 1p36. Other CMM susceptibility loci include CMM2 (OMIM ), caused by variation in the CDKN2A gene (OMIM ) on chromosome 9p21; CMM3 (OMIM ), caused by variation in the CDK4 gene (OMIM ) on chromosome 12q14; CMM4 (OMIM ), mapped to chromosome 1p22; CMM5 (OMIM ), caused by variation in the MC1R gene (OMIM ) on chromosome 16q24; CMM6 (OMIM ), caused by variation in the XRCC3 gene (OMIM ) on chromosome 14q32; CMM7 (OMIM ), mapped to chromosome 20q11; CMM8 (OMIM ), caused by variation in the MITF gene (OMIM ) on chromosome 3p13; CMM9 (OMIM ), caused by variation in the TERT gene (OMIM ) on chromosome 5p15; and CMM10 (OMIM ), caused by mutation in the POT1 gene (OMIM ) on chromosome 7q31.Somatic mutations causing malignant melanoma have also been identified in several genes, including BRAF (OMIM ), STK11 (OMIM ), PTEN (OMIM ), TRRAP (OMIM ), DCC (OMIM ), GRIN2A (OMIM ), ZNF831, BAP1 (OMIM ), and RASA2 (OMIM ). A large percentage of melanomas (40-60%) carry an activating somatic mutation in the BRAF gene, most often V600E ({164757.0001}) (Davies et al., 2002; Pollock et al., 2003).

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1; CMM1 Is also known as familial atypical mole-malignant melanoma syndrome|b-k mole syndrome|melanoma, familial|dns|dysplastic nevus syndrome, hereditary|cmm|melanoma, cutaneous malignant|mlm|fammm|melanoma, malignant

Related symptoms:

  • Neoplasm
  • Abnormality of the eye
  • Retinopathy
  • Nevus
  • Neoplasm of the skin


SOURCES: OMIM MENDELIAN

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1; CMM1

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

Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.

GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY Is also known as gsd due to glut2 deficiency|glycogenosis due to glut2 deficiency|gsd type 11|glycogen storage disease type 11|gsd type xi|glycogenosis, fanconi type|fanconi-bickel disease|hepatorenal glycogenosis with renal fanconi syndrome|hepatic glycogenosis with fanc

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY

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

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

Symptoms // Phenotype % cases
Ataxia Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Hyperhidrosis Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Growth delay Osteoporosis

Rare Symptoms - Less than 30% cases

Pulmonary fibrosis Hyperlipidemia Pancreatitis Abnormality of coagulation Premature graying of hair Epiphora Myelodysplasia Neoplasm of the skin Pancreatic adenocarcinoma Bone marrow hypocellularity Hyperpigmentation of the skin Abnormal intestine morphology Premature loss of teeth Hypercholesterolemia Telangiectasia of the skin Cerebral calcification Blepharitis Oral leukoplakia Aplastic anemia Ridged nail Testicular atrophy Urethral stenosis Reticular hyperpigmentation Failure to thrive Hepatosplenomegaly Visual impairment Pancytopenia Dermal atrophy Abnormality of the dentition Abnormality of skin pigmentation Immunodeficiency Hepatomegaly Thrombocytopenia Alopecia Cerebellar hypoplasia Nystagmus Anemia Leukemia Intrauterine growth retardation Carious teeth Malabsorption Nail dystrophy Cirrhosis Retinopathy Microcephaly Metabolic acidosis Hypercalciuria Vomiting Polydipsia Obesity Atypical nevus Constipation Severe short stature Acidosis Osteopenia Atypical nevi in non-sun exposed areas Hypoglycemia Abdominal distention Elevated alkaline phosphatase Proteinuria Hypokalemia Hyperlordosis Nephropathy Aminoaciduria Increased body weight Hepatic steatosis Distal sensory impairment Absence of subcutaneous fat Fever Clonus Pigmentary retinopathy Paresthesia Dysmetria Lower limb muscle weakness Epidermal acanthosis Hypertriglyceridemia Abnormality of the face Congenital cataract Gait ataxia Insulin resistance Hyperglycemia Rod-cone dystrophy Decreased adipose tissue around neck Babinski sign Acanthosis nigricans Micrognathia Lipodystrophy Glucose intolerance Brisk reflexes Orthostatic hypotension Hypotension Loss of subcutaneous adipose tissue in limbs Lack of facial subcutaneous fat Pancreatic squamous cell carcinoma Rickets Albuminuria Polyuria Multiple renal cysts Abnormality of the kidney Neurological speech impairment Nausea and vomiting Retinal detachment Sensory neuropathy Migraine Multicystic kidney dysplasia Increased intracranial pressure Polycystic kidney dysplasia Aplasia/Hypoplasia of the cerebellum Hemiplegia/hemiparesis Renal cell carcinoma Capillary hemangioma Arrhythmia Arteriovenous malformation Abnormality of the cerebral vasculature Abnormality of the retinal vasculature Abnormality of the pancreas Pheochromocytoma Pancreatic cysts Visceral angiomatosis Abnormality of the lymphatic system Neuroendocrine neoplasm Papillary cystadenoma of the epididymis Retinal capillary hemangioma Vascular neoplasm Glaucoma Visual loss Bowing of the legs Fasting hypoglycemia Hypophosphatemia Reduced subcutaneous adipose tissue Glycosuria Osteomalacia Hyperuricemia Renal tubular acidosis Poor appetite Protuberant abdomen Ketosis Renal tubular dysfunction Ketonuria Hyperphosphaturia Microalbuminuria Hydrocephalus Generalized aminoaciduria Hypouricemia Hypergalactosemia Mild proteinuria Uveal melanoma Galactosuria Hyperuricosuria Impairment of galactose metabolism Galactose intolerance Chronic acidosis Sensorineural hearing impairment Hypertension Gait disturbance Oropharyngeal squamous cell carcinoma Esophageal stricture Numerous nevi Porokeratosis 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 Abnormality of neutrophils Interstitial pneumonitis Aplastic/hypoplastic toenail Rough bone trabeculation Abnormal eyelash morphology Nail pits Anorectal anomaly Congenital bullous ichthyosiform erythroderma Displacement of the external urethral meatus Palmar hyperkeratosis Esophageal stenosis Absent lacrimal punctum Intellectual disability Seizures Generalized hypotonia Strabismus Cryptorchidism Abnormal eyebrow morphology Aseptic necrosis Ventriculomegaly Lymphoma Abnormality of metabolism/homeostasis Scoliosis Splenomegaly Recurrent respiratory infections Diabetes mellitus Hyperkeratosis Sparse hair Hepatic failure Palmoplantar keratoderma Recurrent fractures Hypodontia Hypoplasia of the maxilla Nail dysplasia Aplasia/Hypoplasia of the skin Abnormal blistering of the skin Specific learning disability Hepatic fibrosis Skin ulcer Lymphopenia Abnormality of the fingernails Hypopigmented skin patches Tracheoesophageal fistula Hypermelanotic macule Neurofibromas Macule Skin vesicle Optic atrophy Respiratory distress Chondrosarcoma Generalized hypopigmentation of hair Generalized hyperpigmentation Hodgkin lymphoma Chromosome breakage Excessive wrinkled skin Keratoconjunctivitis Lacrimal duct stenosis Abnormal leukocyte morphology Phimosis Reticulated skin pigmentation Brittle scalp hair Fragile teeth Split nail Myeloid leukemia Pterygium of nails Anal mucosal leukoplakia Abnormality of the eye Nevus Melanoma Sarcoma Melanocytic nevus Colon cancer Freckling Blue irides Osteosarcoma Cutaneous melanoma Acute myeloid leukemia Restrictive ventilatory defect Hypertonia Oligohydramnios Hypospadias Hyporeflexia Cerebral cortical atrophy Carcinoma Muscular hypotonia of the trunk Postnatal growth retardation Small for gestational age Hypopigmentation of the skin Sepsis Gliosis Gastrointestinal hemorrhage Decreased testicular size Decreased fetal movement Increased antibody level in blood Sparse scalp hair Telangiectasia Truncal ataxia Horseshoe kidney Conjunctivitis Sparse eyelashes Leukopenia Anosmia Pterygium Neonatal respiratory distress Squamous cell carcinoma Flared metaphysis Neoplasm of the middle ear


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