Cataract, and Pheochromocytoma

Diseases related with Cataract and Pheochromocytoma

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


Top matches:

Low match VON HIPPEL-LINDAU DISEASE


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

Low match PHEOCHROMOCYTOMA


Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (Maher and Eng, 2002; Dluhy, 2002).Bolande (1974) introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2.Knudson and Strong (1972) applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in {180200}) and concluded that it fits.Maher and Eng (2002) reviewed the clinical entities and genes associated with pheochromocytoma.

PHEOCHROMOCYTOMA Is also known as pheochromocytoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Hypertension
  • Tremor
  • Fatigue
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHEOCHROMOCYTOMA

Low match RUBINSTEIN-TAYBI SYNDROME 1; RSTS1


Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

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Other less relevant matches:

Low match CATARACT 36; CTRCT36


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

Low match HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME


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

Low match PARAGANGLIOMAS 5; PGL5


Related symptoms:

  • Neoplasm
  • Hypertension
  • Hyperhidrosis
  • Vertigo
  • Tachycardia


SOURCES: OMIM MENDELIAN

More info about PARAGANGLIOMAS 5; PGL5

Low match HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA


Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term).

HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA Is also known as familial pheochromocytoma-paraganglioma

Related symptoms:

  • Tremor
  • Fatigue
  • Congestive heart failure
  • Weight loss
  • Conductive hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA

Low match CARNEY COMPLEX, TYPE 1; CNC1


Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine glands, similar to classic MEN syndromes (MEN1; {131100} and MEN2; {171400}). Carney complex shows some similarities to McCune-Albright syndrome (MAS ), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS ). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas (Kirschner et al., 2000; Stratakis et al., 2001).

CARNEY COMPLEX, TYPE 1; CNC1 Is also known as lamb syndrome|myxoma, spotty pigmentation, and endocrine overactivity|carney myxoma-endocrine complex|car|carney syndrome|name syndrome

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about CARNEY COMPLEX, TYPE 1; CNC1

Low match MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B


Multiple endocrine neoplasia type IIB (MEN2B) is an autosomal dominant hamartoneoplastic syndrome characterized by aggressive medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuromas, and thickened corneal nerves. Most affected individuals have characteristic physical features, including full lips, thickened eyelids, high-arched palate, and marfanoid habitus. Other more variable features include skeletal anomalies and gastrointestinal problems (review by Morrison and Nevin, 1996).For a discussion of genetic heterogeneity of multiple endocrine neoplasia (MEN), see MEN1 (OMIM ).

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B Is also known as men iib|multiple endocrine neoplasia, type iii, formerly|wagenmann-froboese syndrome|men3, formerly|neuromata, mucosal, with endocrine tumors

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B

Top 5 symptoms//phenotypes associated to Cataract and Pheochromocytoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Hypertension Uncommon - Between 30% and 50% cases
Paraganglioma Uncommon - Between 30% and 50% cases
Cafe-au-lait spot Uncommon - Between 30% and 50% cases
Palpitations Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Fatigue Congestive heart failure Neurofibromas Elevated urinary epinephrine Weight loss Hyperhidrosis Carcinoma Flushing

Rare Symptoms - Less than 30% cases


Pulsatile tinnitus Episodic hyperhidrosis Panic attack Hypertensive retinopathy Hypertension associated with pheochromocytoma Adrenal pheochromocytoma Episodic paroxysmal anxiety Recurrent paroxysmal headache Episodic abdominal pain Neoplasm of the endocrine system Hypercalcemia Cerebral hemorrhage Glomerulosclerosis Aniridia Sinus tachycardia Cranial nerve compression Hearing impairment Extraadrenal pheochromocytoma Elevated calcitonin Proptosis Constipation Abnormality of the skin Freckling Pectus excavatum Joint laxity Respiratory distress Thyroid carcinoma Pain High palate Ptosis Elevated urinary dopamine Thick eyebrow Muscular hypotonia Abnormal facial shape Hirsutism Scoliosis Generalized hypotonia Seizures Elevated urinary norepinephrine Paroxysmal vertigo Positive regitine blocking test Dysphonia Paraganglioma of head and neck Vocal cord paralysis Hemangioma Tremor Visual loss Renal cell carcinoma Glaucoma Papillary cystadenoma of the epididymis Retinal capillary hemangioma Abnormality of the kidney Aganglionic megacolon Capillary hemangioma Chest pain Conductive hearing impairment Proteinuria Pallor Nausea Tachycardia Hematuria Arrhythmia Arachnoid hemangiomatosis Muscle weakness Abnormal cornea morphology Nasolacrimal duct obstruction Vertigo Fever Osteoporosis Dyspnea Papule Proximal muscle weakness Myalgia Abnormality of the eye Stroke Broad distal phalanx of finger Confusion Medulloblastoma Avascular necrosis of the capital femoral epiphysis Nevus Abnormality of refraction Tall stature Flared iliac wings Dyslexia Rhabdomyosarcoma Abnormal number of teeth Phonophobia Duane anomaly Large foramen magnum Increased body weight Narrow maxilla Agoraphobia Premature thelarche Deviated nasal septum Bifid uterus Vascular ring Duplication of phalanx of hallux Dyscalculia Chorioretinal dystrophy Keloids Prominent fingertip pads Tethered cord Frontal upsweep of hair Bimanual synkinesia Talon cusp Enlarged tonsils Short upper lip High axial triradius Parietal foramina Abnormality of the cervical spine Radial deviation of thumb terminal phalanx Plantar crease between first and second toes Abnormality of metabolism/homeostasis Facial grimacing Gynecomastia Profuse pigmented skin lesions Ischemic stroke Achalasia Coarse facial features Photophobia Hyperlordosis Thick vermilion border High, narrow palate Polyneuropathy Thick lower lip vermilion Hemiparesis Subcutaneous nodule Goiter Failure to thrive in infancy Acne Disproportionate tall stature Parathyroid hyperplasia Kyphosis Lisch nodules Medullary thyroid carcinoma Colonic diverticula Ganglioneuroma Schizencephaly Nodular goiter Abnormality of the parathyroid gland Proximal femoral epiphysiolysis Neuroma Subcutaneous neurofibromas Inguinal freckling Prominent corneal nerve fibers Ganglioneuromatosis Pes cavus Diarrhea Sarcoma Red hair Precocious puberty Heart murmur Hypermelanotic macule Macule Striae distensae Growth hormone excess Bipolar affective disorder Increased circulating cortisol level Blue irides Macroorchidism Pituitary adenoma Generalized hypopigmentation Schwannoma Multiple lentigines Myopathy Fibroma Pituitary prolactin cell adenoma Testicular neoplasm Follicular hyperplasia Follicular thyroid carcinoma Uterine leiomyoma Cardiac myxoma Short attention span Thyroid follicular hyperplasia Myxoid subcutaneous tumors Cutaneous myxoma Global developmental delay Abnormality of the skeletal system Meningioma Dental malocclusion Hypoplastic iliac wing Delayed speech and language development Renal artery stenosis Episodic hypertension Intellectual disability Short stature Microcephaly Growth delay Failure to thrive Micrognathia Strabismus Cryptorchidism Low-set ears Flexion contracture Epicanthus Raynaud phenomenon Hyperreflexia Wide nasal bridge Downslanted palpebral fissures Frontal bossing Dysphagia Ventricular septal defect Atrial septal defect Abnormality of the dentition Behavioral abnormality Syndactyly Immunodeficiency Hypospadias Patent ductus arteriosus Albuminuria Congenital cataract Delayed skeletal maturation Polycystic kidney dysplasia Nystagmus Sensorineural hearing impairment Visual impairment Gait disturbance Hydrocephalus Neurological speech impairment Nausea and vomiting Retinal detachment Sensory neuropathy Migraine Multicystic kidney dysplasia Increased intracranial pressure Aplasia/Hypoplasia of the cerebellum Retinopathy Hemiplegia/hemiparesis Telangiectasia of the skin Multiple renal cysts Arteriovenous malformation Abnormality of the cerebral vasculature Abnormality of the retinal vasculature Abnormality of the pancreas Pancreatic cysts Visceral angiomatosis Abnormality of the lymphatic system Neuroendocrine neoplasm Vascular neoplasm Neoplasm of the middle ear Abnormal heart morphology Clinodactyly of the 5th finger Low hanging columella Recurrent upper respiratory tract infections Mitral regurgitation Broad thumb Hypoplasia of dental enamel Long eyelashes Dental crowding Stereotypy Exotropia Wide anterior fontanel Low anterior hairline Narrow palate Spina bifida occulta Bicuspid aortic valve Laryngomalacia Coarctation of aorta Impulsivity Broad hallux Delayed cranial suture closure Truncal obesity Congenital glaucoma Dislocated radial head Neuroblastoma Shawl scrotum Overweight Poor coordination Patellar dislocation Self-mutilation Obstructive sleep apnea Low posterior hairline Convex nasal ridge Agenesis of corpus callosum Abnormality of the pinna Hyperactivity Polydactyly Narrow mouth Autism Polyhydramnios Gastroesophageal reflux Retrognathia Pes planus Thin upper lip vermilion EEG abnormality Deeply set eye Intellectual disability, moderate Feeding difficulties in infancy Postnatal growth retardation Otitis media Respiratory tract infection Coloboma Leukemia Pulmonic stenosis Unsteady gait Joint hypermobility Iris coloboma Highly arched eyebrow Single transverse palmar crease Recurrent fractures Hypoplasia of the maxilla Ataxia Prominent nose Multiple mucosal neuromas



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