Cataract, and Nephroblastoma

Diseases related with Cataract and Nephroblastoma

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


Top matches:

Medium match HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC


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

Medium match WAGR SYNDROME


WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.

WAGR SYNDROME Is also known as del(11)(p13)|chromosome 11p13 deletion syndrome|wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|monosomy 11p13|deletion 11p13|wagr syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about WAGR SYNDROME

Medium match POTOCKI-SHAFFER SYNDROME


Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

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Other less relevant matches:

Medium match MONOSOMY 9Q22.3


Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.

MONOSOMY 9Q22.3 Is also known as microdeletion 9q22.3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MESH MENDELIAN

More info about MONOSOMY 9Q22.3

Medium match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1


Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Medium match ISOLATED ANIRIDIA


Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.

ISOLATED ANIRIDIA Is also known as an2, formerly|aniridia ii, formerly|an

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED ANIRIDIA

Medium match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME


Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Low match OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME


Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME Is also known as hyperostosis generalisata with striations|robinow-unger syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME

Low match SIMPSON-GOLABI-BEHMEL SYNDROME


Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

SIMPSON-GOLABI-BEHMEL SYNDROME Is also known as sgbs|sgbs1|simpson-golabi-behmel syndrome type 1|golabi-rosen syndrome|sdys|x-linked dysplasia gigantism syndrome|dysplasia gigantism syndrome, x-linked|simpson dysmorphia syndrome|dgsx|bulldog syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME

Low match NEPHROBLASTOMA


Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.

NEPHROBLASTOMA Is also known as wilms tumor|nephroblastoma|renal embryonic tumor

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Hypertension
  • Fever
  • Renal insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEPHROBLASTOMA

Top 5 symptoms//phenotypes associated to Cataract and Nephroblastoma

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Neoplasm Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Epicanthus Hearing impairment Short nose Downslanted palpebral fissures Hypothyroidism Depressed nasal bridge Generalized hypotonia High forehead Microcephaly Anteverted nares Wide nasal bridge Muscular hypotonia Cleft palate Hypertelorism Dandy-Walker malformation Low-set ears Hydrocephalus Aniridia Microphthalmia Ptosis Cryptorchidism Ventriculomegaly Nystagmus Short neck Renal neoplasm Short stature Micropenis Abnormality of the skeletal system Pain Growth delay Strabismus Syndactyly Brachycephaly Wide nose Acute lymphoblastic leukemia Agenesis of corpus callosum Clinodactyly Broad nasal tip Leukemia Rhabdomyosarcoma Pectus excavatum Long philtrum Macrocephaly Ventricular septal defect Hypertension Atrial septal defect Abnormal heart morphology Scoliosis Multicystic kidney dysplasia Hypospadias Glaucoma Polyhydramnios Clinodactyly of the 5th finger Obesity Ambiguous genitalia Abnormality of the genital system Abnormality of cardiovascular system morphology

Rare Symptoms - Less than 30% cases


Renal dysplasia Upslanted palpebral fissure Posteriorly rotated ears Low-set, posteriorly rotated ears Apnea Craniosynostosis Bifid uvula Intrauterine growth retardation Intestinal malrotation Dental malocclusion Webbed neck Osteolysis Large for gestational age Muscular dystrophy Accelerated skeletal maturation Tall stature Abnormality of the ribs Delayed eruption of teeth Umbilical hernia Polydactyly Hyperactivity Coarctation of aorta Omphalocele Long face Overgrowth Small for gestational age Microretrognathia Retinal detachment High palate Arachnodactyly Congenital cataract Duodenal atresia Talipes equinovarus Intellectual disability, severe Dental crowding Blindness Abnormal lung lobation Hypoplasia of the corpus callosum Abnormality of the dentition Patent ductus arteriosus Dolichocephaly Renal cyst Hydronephrosis Premature chromatid separation Myelodysplasia Cleft lip Oligohydramnios Cleft upper lip Frontal bossing Intellectual disability, mild Holoprosencephaly Thin vermilion border Thick vermilion border High, narrow palate Narrow palate Cognitive impairment Kyphosis Hematuria Failure to thrive Hemihypertrophy Microcornea Corneal opacity Renal insufficiency Cardiomyopathy Broad forehead Vaginal neoplasm Cutaneous syndactyly Peters anomaly Basal cell carcinoma Ankylosis Low back pain Broad ribs Thoracic dysplasia Ectopic anus Echolalia Misalignment of teeth Osteopetrosis Pierre-Robin sequence Tracheomalacia Facial paralysis Fibular hypoplasia Renal cell carcinoma Anal stenosis Submucous cleft hard palate Facial palsy Natal tooth Thickened calvaria Partial agenesis of the corpus callosum Large forehead White forelock Mixed hearing impairment Laryngotracheomalacia Metaphyseal striations Osteopathia striata Facial hyperostosis High iliac wings Unilateral facial palsy Laryngeal web Craniofacial osteosclerosis Large iliac wings Alobar holoprosencephaly Delayed closure of the anterior fontanelle Broad clavicles Rough bone trabeculation Flexion contracture of toe Asymmetry of the thorax Sclerosis of skull base Thoracolumbar kyphosis Otosclerosis Fibular aplasia Camptodactyly Visual field defect Flat face Cerebral calcification Aganglionic megacolon Anal atresia Skin rash Abnormality of the metaphysis Open mouth Thick lower lip vermilion Lumbar hyperlordosis Narrow forehead Specific learning disability Large fontanelles Wide intermamillary distance Abnormality of the skin Papule Pruritus Abnormality of the musculature Neoplasm of the skin Breast carcinoma Back pain Ophthalmoplegia Abnormal vertebral morphology Hyperlordosis Metaphyseal widening Paralysis Hypoplastic left heart Dysphasia Aphasia Straight clavicles Hyperostosis Flat occiput Overfolded helix Increased susceptibility to fractures Aortic valve stenosis Pyloric stenosis Nasal speech Mutism Microtia Spina bifida occulta Spontaneous abortion Spina bifida Increased bone mineral density Joint contracture of the hand Delayed cranial suture closure Splenomegaly Paranasal sinus hypoplasia Flared iliac wings Hepatoblastoma Meckel diverticulum Cervical ribs Pancreatic islet-cell hyperplasia Chordee Increased IgE level Ankyloglossia Ureteral duplication Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the helix Broad toe Furrowed tongue Diastasis recti Polysplenia Low hanging columella Broad foot Enlarged kidney Neuroblastoma Transposition of the great arteries Broad palm Embryonal neoplasm Penoscrotal hypospadias Vertebral fusion Cleft lower lip Male pseudohermaphroditism Neoplasm of the lung Gonadal dysgenesis Lymphadenopathy Weight loss Abdominal pain Fever Two carpal ossification centers present at birth Cyst of the ductus choledochus Submucous cleft lip Short 2nd finger Six lumbar vertebrae Duplication of renal pelvis Penoscrotal transposition Birth length greater than 97th percentile Nephroblastomatosis Broad secondary alveolar ridge Narrow sacroiliac notch 2-3 finger syndactyly Posterior helix pit Short sacroiliac notch Abnormality of digit Vertebral segmentation defect Hepatomegaly Neurological speech impairment Macroglossia Short foot Postaxial polydactyly Short distal phalanx of finger Short palm Facial asymmetry Pulmonic stenosis Toe syndactyly Finger syndactyly Camptodactyly of finger Carcinoma Wide mouth Irritability Hypoglycemia Coarse facial features Mandibular prognathia Proptosis Inguinal hernia Arrhythmia Hernia Skeletal dysplasia Nail dysplasia Postaxial hand polydactyly Prolonged QT interval Narrow palpebral fissure Supernumerary nipple Bundle branch block Hydroureter Bilateral talipes equinovarus Preauricular pit Cupped ear Abnormality of the voice Abnormality of the hand Relative macrocephaly Congenital hip dislocation Hypoplasia of penis Cardiac arrest Hoarse voice Short toe Preauricular skin tag Cerebral visual impairment Broad thumb Clumsiness Cerebellar vermis hypoplasia Small nail Congenital diaphragmatic hernia Conductive hearing impairment Dilatation Retrognathia Severe intrauterine growth retardation Embryonal rhabdomyosarcoma Brachydactyly Cerebral hypoplasia Triangular mouth Short sternum Mild microcephaly Acute leukemia Multiple renal cysts Combined immunodeficiency Ataxia Bifid scrotum Limb-girdle muscular dystrophy Myopia Sarcoma Hyperpigmentation of the skin Primary amenorrhea Intellectual disability, profound Behavioral abnormality Amenorrhea Hypodysplasia of the corpus callosum Anemia Generalized myoclonic seizures Intellectual disability, moderate Hypopigmentation of the skin Streak ovary Polymicrogyria Falls Displacement of the external urethral meatus Smooth philtrum Dysfunction of lateral corticospinal tracts Attention deficit hyperactivity disorder Coloboma Muscular hypotonia of the trunk Tremor Rigidity Macrotia Reduced visual acuity Gait ataxia Diabetes mellitus Hypogonadism Visual loss Hypertonia Sensorineural hearing impairment Autism Telecanthus Recurrent urinary tract infections Decreased skull ossification Palmar pits Metopic synostosis Turricephaly Medulloblastoma Abnormality of the vertebral column Exostoses Trigonocephaly Arnold-Chiari malformation Depressed nasal tip Sparse lateral eyebrow Ovarian fibroma Craniofacial dysostosis Oral cleft Joint hyperflexibility Retinopathy Congenital ptosis Narrow mouth Parietal foramina Multiple exostoses Cutaneous syndactyly between fingers 2 and 5 Calcification of falx cerebri Thickened ears Autistic behavior Single transverse palmar crease Generalized tonic-clonic seizures Severe global developmental delay Short philtrum Prominent nasal bridge Postnatal growth retardation Feeding difficulties in infancy Delayed puberty Downturned corners of mouth Cerebellar hypoplasia Midface retrusion Plantar pits Immunodeficiency Malar flattening Prominent nose Underdeveloped nasal alae Wormian bones Sparse eyebrow Self-injurious behavior Cardiac fibroma Odontogenic keratocysts of the jaw Choanal atresia Aplasia/Hypoplasia of the iris Gastroesophageal reflux Multiple cutaneous leiomyomas Colon cancer Aplasia/Hypoplasia of the cerebellum Abnormality of vision Sleep apnea Aplasia/Hypoplasia of the corpus callosum Aortic regurgitation Uterine leiomyosarcoma Cutaneous leiomyoma Finger clinodactyly Cafe-au-lait spot Multiple cafe-au-lait spots Rhizomelia Depressed nasal ridge Short palpebral fissure Papillary renal cell carcinoma type 2 Sloping forehead Growth hormone deficiency Triangular face Ascites Bulbous nose Atrioventricular canal defect Abnormality of immune system physiology Abnormality of skin pigmentation Delayed speech and language development Prominent forehead Severe short stature Leiomyosarcoma Feeding difficulties Headache Bladder neoplasm Myopathy Gastrointestinal stroma tumor Papillary renal cell carcinoma Flexion contracture Barrett esophagus Epidermoid cyst Increased nuchal translucency Abnormal aortic morphology Stomach cancer Subvalvular aortic stenosis Intestinal polyposis Abnormality of the upper limb Uterine leiomyoma Abnormality of the skull Decreased fumarate hydratase activity Cutaneous leiomyosarcoma Abnormal vagina morphology Adrenal insufficiency Decreased light- and dark-adapted electroretinogram amplitude Hyposmia Ectopia pupillae Action tremor Hypoplasia of the fovea Hand tremor Hypoplasia of the iris Limb hypertonia Hypopituitarism Albinism Abnormal glucose tolerance Anophthalmia Ectopia lentis Bilateral ptosis Anosmia Optic nerve hypoplasia Opacification of the corneal stroma Type I diabetes mellitus Exotropia Amblyopia Ocular pain Lower limb hypertonia Blepharophimosis Abnormality of the uterus Visual impairment Abnormality of the eye Deeply set eye Hypertrophic cardiomyopathy Delayed skeletal maturation Nephropathy Everted lower lip vermilion Abnormality of the genitourinary system Hearing abnormality Gonadoblastoma Central hypothyroidism Increased proinsulin:insulin ratio Hypoplasia of the antihelix Aplasia/Hypoplasia of the macula Lumbar kyphosis Aphakia Central adrenal insufficiency Vascular tortuosity Macular hypoplasia Retinal vascular tortuosity Neoplasm of the liver



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