Cataract, and Retinoblastoma

Diseases related with Cataract and Retinoblastoma

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


Top matches:

Medium match OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME


Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.

OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME Is also known as oppg|osteogenesis imperfecta, ocular form|ocular form of osteogenesis imperfecta|ops

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME

Medium match RETINOBLASTOMA; RB1


Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Medium match NORRIE DISEASE


Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.

NORRIE DISEASE Is also known as episkopi blindness|norrie-warburg disease|atrophia bulborum hereditaria

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NORRIE DISEASE

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Other less relevant matches:

Medium match MONOSOMY 13Q14


Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

MONOSOMY 13Q14 Is also known as del(13)(q14)|chromosome 13q deletion syndrome|deletion 13q14

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MONOSOMY 13Q14

Low match WILSON DISEASE


Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

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 OSTEOGENIC SARCOMA


OSTEOGENIC SARCOMA Is also known as osteosarcoma|osrc

Related symptoms:

  • Short stature
  • Neoplasm
  • Abnormality of metabolism/homeostasis
  • Sarcoma
  • Osteosarcoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about OSTEOGENIC SARCOMA

Low match SMALL CELL LUNG CANCER


Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure.

SMALL CELL LUNG CANCER Is also known as sclc|sccl|sclc1

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Subcutaneous nodule
  • Neoplasm of the lung
  • Retinoblastoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about SMALL CELL LUNG CANCER

Low match BREAST CANCER


Breast cancer (referring to mammary carcinoma, not mammary sarcoma) is histopathologically and almost certainly etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement.

BREAST CANCER Is also known as breast cancer, familial

Related symptoms:

  • Neoplasm
  • Pain
  • Carcinoma
  • Gynecomastia
  • Breast carcinoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about BREAST CANCER

Top 5 symptoms//phenotypes associated to Cataract and Retinoblastoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Microphthalmia Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Carcinoma Sarcoma Leukocoria Glaucoma Growth delay Muscular hypotonia Blindness Short stature Visual impairment

Rare Symptoms - Less than 30% cases


Confusion Pain Anemia Vomiting Malar flattening Aggressive behavior Visual loss Weight loss Protruding ear Global developmental delay Osteosarcoma Abnormality of the nervous system Intellectual disability, severe Soft tissue sarcoma Neoplasm of the eye Psychosis Hypotelorism Dementia Failure to thrive Cryptorchidism Spasticity Thin vermilion border Abnormal facial shape Anxiety Pathologic fracture Vitreous hemorrhage Joint hypermobility Vitreoretinopathy Abnormality of metabolism/homeostasis Osteoporosis Ventricular septal defect Retinal dysplasia Corneal opacity Nystagmus Phthisis bulbi Generalized hypotonia Muscle weakness Proteinuria Hydronephrosis Arthritis Elevated hepatic transaminase Muscular hypotonia of the trunk Depressivity Arthralgia Difficulty walking Hepatosplenomegaly Abnormality of the liver Jaundice Rigidity Bulbous nose Thin upper lip vermilion Pruritus High forehead Micropenis Cerebral atrophy Clinodactyly of the 5th finger Abnormality of the cerebral white matter Abnormal heart morphology Nausea and vomiting Infertility Poor speech Paresthesia Peripheral axonal neuropathy Nausea Thrombocytopenia Dysphagia Splenomegaly Patent foramen ovale Thick eyebrow Dolichocephaly Hip dislocation Iris coloboma Finger syndactyly Everted lower lip vermilion Broad forehead Single transverse palmar crease Webbed neck Open mouth Wide anterior fontanel Finger clinodactyly Abnormal dermatoglyphics Deep philtrum Trigonocephaly Dystonia Hepatomegaly Edema Wide mouth Coloboma Fatigue Tremor Dysarthria Peripheral neuropathy Supernumerary nipple Anteverted ears Thickened helices Abnormality of the gastrointestinal tract Prominent nasal bridge Aplasia/Hypoplasia of the thumb Absent septum pellucidum Holoprosencephaly Nephrolithiasis Cirrhosis Esophageal varix Premature osteoarthritis Abnormality of the menstrual cycle Proximal muscle weakness in lower limbs Menstrual irregularities Neoplasm of the liver Hyperphosphaturia Chondrocalcinosis Poor motor coordination Acute hepatic failure Renal tubular dysfunction Increased reactive oxygen species production Hand tremor Hypoparathyroidism Hepatocellular carcinoma Hypocupremia Hypersexuality Abnormality of blood and blood-forming tissues Neoplasm of the lung Neoplasm of the breast Prostate cancer Ovarian neoplasm Breast carcinoma Gynecomastia Small cell lung carcinoma Subcutaneous nodule Acute hepatitis Embryonal neoplasm Chondrosarcoma Atypical or prolonged hepatitis Kayser-Fleischer ring Mixed demyelinating and axonal polyneuropathy High nonceruloplasmin-bound serum copper Joint swelling Arthropathy Hepatic failure Progressive neurologic deterioration Decreased liver function Hernia Involuntary movements Clumsiness Cholestasis Osteoarthritis Hepatitis Increased body weight Ascites Coma Polyneuropathy Hepatic steatosis Hemolytic anemia Bruising susceptibility Bone pain Muscle stiffness Osteomalacia Back pain Glycosuria Global brain atrophy Oral-pharyngeal dysphagia Personality changes Abnormality of mitochondrial metabolism Hypercalciuria Abnormality of the hand Spontaneous abortion Schizophrenia Drooling Leukoencephalopathy Leukopenia Nephrocalcinosis Aminoaciduria Clinodactyly Abnormal vitreous humor morphology Abnormality of cardiovascular system morphology Hyphema Astrocytoma Buphthalmos Inflammatory abnormality of the eye Ocular pain Anisocoria Leiomyosarcoma Malar rash Glioblastoma multiforme Fibrosarcoma Burkitt lymphoma Vitritis Histiocytoma Liposarcoma Sebaceous gland carcinoma Ewing sarcoma Anemia of inadequate production Pineal cyst Iris neovascularization Pinealoma Retinal calcification Pineoblastoma Neuroblastic tumors Seizures Scoliosis Sensorineural hearing impairment Hyperreflexia Optic atrophy Hypertonia Behavioral abnormality Myoclonus Acute monocytic leukemia Chromosome breakage Cerebral cortical atrophy Absent anterior chamber of the eye Intellectual disability, mild Kyphoscoliosis Osteopenia Joint laxity Platyspondyly Congenital cataract Inability to walk Recurrent fractures Increased susceptibility to fractures Metaphyseal widening Barrel-shaped chest Glioma Iris atrophy Severe platyspondyly Strabismus Uveitis Lymphoma Acute myeloid leukemia Cellulitis Neurofibromas Myelodysplasia Increased intracranial pressure Anorexia Postural instability Cleft palate Abnormality of skin pigmentation Leukemia Skin rash Proptosis Headache Hydrocephalus Diabetes mellitus Autism Long philtrum Vascular neoplasm Retinal fold Remnants of the hyaloid vascular system Exudative vitreoretinopathy Shallow anterior chamber Abnormal chorioretinal morphology Erectile abnormalities Posterior synechiae of the anterior chamber Corneal degeneration Abnormality of the diencephalon Retinopathy of prematurity Abnormal cochlea morphology Aplasia/Hypoplasia of the lens Uterine rupture Anterior chamber synechiae Hypertelorism Anterior synechiae of the anterior chamber Micrognathia Ptosis Low-set ears Cognitive impairment High palate Delayed speech and language development Epicanthus Brachydactyly Wide nasal bridge Intrauterine growth retardation Frontal bossing Short neck Hypoplasia of the corpus callosum Short nose Venous insufficiency Abnormal pupil morphology Macrotia Hallucinations EEG abnormality Deeply set eye Abnormality of the eye Developmental regression Irritability Retinopathy Attention deficit hyperactivity disorder Delayed puberty Retinal degeneration Retinal detachment Sleep disturbance Migraine Intellectual disability, profound Stereotypy Clonus Abnormality of the retinal vasculature Narrow nasal bridge Abnormality of the helix Sclerocornea Abnormality of the vasculature Hypoplasia of the iris Severe vision loss Abnormality of immune system physiology Abnormal retinal morphology Opacification of the corneal stroma Aplasia/Hypoplasia of the cerebellum Self-injurious behavior Ectopia lentis Cachexia Progressive hearing impairment Intellectual disability, progressive Endometrial carcinoma



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Astigmatism, related diseases and genetic alterations Wide nasal bridge and Camptodactyly of finger, related diseases and genetic alterations Hydrocephalus and Respiratory distress, related diseases and genetic alterations Low-set ears and Intellectual disability, profound, related diseases and genetic alterations Cryptorchidism and Dolichocephaly, related diseases and genetic alterations

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