Cataract, and Sarcoma

Diseases related with Cataract and Sarcoma

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

Top matches:

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

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

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.

HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER Is also known as mcul|reed syndrome|familial leiomyomatosis and renal cell cancer|familial leiomyomatosis with renal carcinoma|familial leiomyomatosis cutis et uteri|hereditary leiomyomatosis|familial multiple cutaneous leiomyomas|hereditary multiple cutaneous leiomyomas|

Related symptoms:

  • Cataract
  • Pruritus
  • Abnormality of the musculature
  • Barrett esophagus
  • Uterine leiomyoma


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER

Other less relevant matches:

Hereditary leiomyomatosis and renal cell cancer is an autosomal dominant tumor predisposition syndrome characterized by the variable development of 3 tumors: cutaneous piloleiomyomata that develop in essentially all patients by age 40 years; leiomyomata (fibroids) of the uterus, and rarely leiomyosarcomas, at a mean age of 30 years (range, 18 to 52 years); and type 2 papillary renal cell carcinoma at a mean age of 46 years (range, 17 to 75 years), which occurs in about 20% of patients. Type 2 papillary renal cell carcinoma is a pathologic subtype characterized by large tumor cells with eosinophilic cytoplasm and pseudostratified nuclei; it shows an aggressive clinical course. Some patients with FH mutations may develop collecting duct renal cell carcinoma. The main focus of management in HLRCC is prevention of disease and death due to renal cancer (summary by Gardie et al., 2011; Smit et al., 2011; and Lehtonen, 2011).For a general discussion of papillary renal cell carcinoma, see RCCP1 (OMIM ).

HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC Is also known as mcl|multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma|mcul1|lrcc|leiomyoma, multiple cutaneous|leiomyomatosis and renal cell cancer, hereditary

Related symptoms:

  • Neoplasm
  • Pain
  • Cataract
  • Carcinoma
  • Skin rash


SOURCES: MESH OMIM MENDELIAN

More info about HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC

Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).

DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME Is also known as hardcastle syndrome|myopathy, limb-girdle, with bone fragility|bone dysplasia with medullary fibrosarcoma|diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome|bone dysplasia-medullary fibrosarcoma syndrome|bdmf|bone dysplasia with maligna

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Skeletal muscle atrophy
  • Myopathy
  • Osteopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME

Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.

NEUROFIBROMATOSIS TYPE 2 Is also known as nf2|bilateral acoustic neurofibromatosis|central neurofibromatosis

Related symptoms:

  • Ataxia
  • Sensorineural hearing impairment
  • Cataract
  • Visual impairment
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 2

Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness.

VESTIBULAR SCHWANNOMA Is also known as bilateral acoustic neurofibromatosis|acoustic neurilemoma|acoustic schwannomas, bilateral|banf|neurofibromatosis, central type|acoustic neurinoma|acn|acoustic neuroma|acoustic neurinoma, bilateral

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about VESTIBULAR SCHWANNOMA

Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.

ROTHMUND-THOMSON SYNDROME TYPE 2 Is also known as poikiloderma of rothmund-thomson type 2|rts2

Related symptoms:

  • Growth delay
  • Cataract
  • Anemia
  • Frontal bossing
  • Diarrhea


SOURCES: ORPHANET MENDELIAN

More info about ROTHMUND-THOMSON SYNDROME TYPE 2

Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.

POIKILODERMA WITH NEUTROPENIA Is also known as poikiloderma with neutropenia, clericuzio type|poikiloderma with neutropenia, clericuzio-type

Related symptoms:

  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about POIKILODERMA WITH NEUTROPENIA

Top 5 symptoms//phenotypes associated to Cataract and Sarcoma

Symptoms // Phenotype % cases
Osteosarcoma Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Osteopenia Uncommon - Between 30% and 50% cases
Basal cell carcinoma Uncommon - Between 30% and 50% cases
Neoplasm of the skin Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Papule Skin rash Visual impairment Pain Poikiloderma Cutaneous photosensitivity Frontal bossing

Rare Symptoms - Less than 30% cases

Sensorineural hearing impairment Subcutaneous nodule Ataxia Nail dystrophy Gait disturbance Short stature Facial palsy Neutropenia Corneal opacity Vertigo Palmoplantar keratoderma Sensory neuropathy Migraine Abnormality of the retinal vasculature Increased intracranial pressure Concave nasal ridge Diarrhea Alopecia Hypogonadism Hyperkeratosis Eczema Squamous cell carcinoma Occasional neurofibromas Tinnitus Pseudoepiphyses of the metacarpals Neoplasm of the central nervous system Dysgraphia Astrocytoma Meningioma Multiple cafe-au-lait spots Myelodysplasia Growth delay Carcinoma Barrett esophagus Muscle weakness Cutaneous leiomyoma Skeletal dysplasia Uterine leiomyoma Uterine leiomyosarcoma Vaginal neoplasm Abnormality of the musculature Multiple cutaneous leiomyomas Leukemia Pruritus Papillary renal cell carcinoma type 2 Alopecia of scalp Severe vision loss Overgrowth Erythroderma Melanoma Telangiectasia Sparse scalp hair Striae distensae Hypoplasia of teeth Abnormal blistering of the skin Hypopigmentation of the skin Acantholysis Sparse hair Erythema Postnatal growth retardation Blepharitis Hyperhidrosis Osteoporosis Prominent forehead Abnormality of the dentition Vomiting Edema Feeding difficulties Abnormality of skin pigmentation Acrokeratosis Lamellar cataract Pneumonia Prematurely aged appearance Absent eyebrow Hypertelorism Abnormal facial shape Brittle hair Hypoplasia of the radius Short thumb Microdontia Depressed nasal bridge Splenomegaly Nausea and vomiting Short nose Malar flattening Midface retrusion Recurrent respiratory infections Absent eyelashes Respiratory failure Mandibular prognathia Respiratory tract infection Cough Carious teeth Anemia Asthma Otitis media Recurrent otitis media Recurrent pneumonia Conjunctivitis Increased antibody level in blood Atrophic scars Wheezing Hypotrichosis Neurofibromas Intellectual disability Soft skin Thin skin Bowing of the legs Osteomyelitis Premature graying of hair Pathologic fracture Limb-girdle muscle weakness Limb muscle weakness Fractures of the long bones Limb-girdle muscle atrophy Fibrosarcoma Presenile cataracts Metaphyseal striations Histiocytoma Patchy osteosclerosis Bruising susceptibility Proximal muscle weakness Diaphyseal cortical sclerosis Renal neoplasm Esophageal neoplasm Hematuria Breast carcinoma Back pain Nephroblastoma Renal cell carcinoma Low back pain Myopathy Leiomyosarcoma Bladder neoplasm Gastrointestinal stroma tumor Papillary renal cell carcinoma Decreased fumarate hydratase activity Cutaneous leiomyosarcoma Skeletal muscle atrophy Stenosis of the medullary cavity of the long bones Osteomyelitis leading to amputation due to slow healing fractures Capsular cataract Decreased corneal sensation Schwannoma Lisch nodules Cortical cataract Epiretinal membrane Ependymoma Spinal cord tumor Vestibular Schwannoma Subcapsular cataract Neuroma Retinal hamartoma Mononeuropathy Bilateral vestibular Schwannoma Peripheral Schwannoma Unilateral vestibular Schwannoma Juvenile posterior subcapsular lenticular opacities Posterior subcapsular cataract Axonal loss Cranial nerve paralysis Reduced visual acuity Benign neoplasm of the central nervous system Seizures Hearing impairment Peripheral neuropathy Blindness Headache Visual loss Paralysis Hamartoma Generalized muscle weakness Progressive visual loss Cafe-au-lait spot Sensorimotor neuropathy Progressive hearing impairment Oral-pharyngeal dysphagia Abnormality of metabolism/homeostasis Subungual hyperkeratosis


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