Cataract, and Situs inversus totalis

Diseases related with Cataract and Situs inversus totalis

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


Top matches:

Medium match RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS; RP82


Related symptoms:

  • Cataract
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Pallor
  • Abnormality of skin pigmentation


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS; RP82

Medium match MECKEL SYNDROME


Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about MECKEL SYNDROME

Medium match BARDET-BIEDL SYNDROME 1; BBS1


Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl SyndromeBBS1 is caused by mutation in a gene on chromosome 11q13 (OMIM ); BBS2 (OMIM ), by mutation in a gene on 16q13 (OMIM ); BBS3 (OMIM ), by mutation in the ARL6 gene on 3q11 (OMIM ); BBS4 (OMIM ), by mutation in a gene on 15q22 (OMIM ); BBS5 (OMIM ), by mutation in a gene on 2q31 (OMIM ); BBS6 (OMIM ), by the MKKS gene on 20p12 (OMIM ), mutations in which also cause McKusick-Kaufman syndrome (OMIM ); BBS7 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS8 (OMIM ), by mutation in the TTC8 gene on 14q32 (OMIM ); BBS9 (OMIM ), by mutation in a gene on 7p14 (OMIM ); BBS10 (OMIM ), by mutation in a gene on 12q (OMIM ); BBS11 (OMIM ), by mutation in the TRIM32 gene on 9q33 (OMIM ); BBS12 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS13 (OMIM ), by mutation in the MKS1 gene (OMIM ) on 17q23, mutations in which also cause Meckel syndrome-1 (OMIM ); BBS14 (OMIM ), by mutation in the CEP290 gene (OMIM ) on 12q21, mutations in which also cause Meckel syndrome-4 (OMIM ) and several other disorders; BBS15 (OMIM ), by mutation in the C2ORF86 gene (OMIM ), which encodes a homolog of the Drosophila planar cell polarity gene 'fritz,' on 2p15; BBS16 (OMIM ), by mutation in the SDCCAG8 gene (OMIM ) on 1q43, mutations in which also cause Senior-Loken syndrome-7 (OMIM ); BBS17 (OMIM ), by mutation in the LZTFL1 gene (OMIM ) on 3p21; BBS18 (OMIM ), by mutation in the BBIP1 gene (OMIM ) on 10q25; BBS19 (OMIM ), by mutation in the IFT27 gene (OMIM ) on 22q12; BBS20 (OMIM ), by mutation in the IFT74 gene (OMIM ) on 9p21; and BBS21 (OMIM ), by mutation in the C8ORF37 gene (OMIM ).The CCDC28B gene (OMIM ) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67 ), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene ({608845.0002}) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene ({209901.0001}).Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (OMIM ), caused by TTC8 mutation, and RP55 (OMIM ), caused by ARL6 mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 1; BBS1

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Other less relevant matches:

Medium match RENPENNING SYNDROME 1; RENS1


Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

Low match KNOBLOCH SYNDROME


Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

Low match OCULOFACIOCARDIODENTAL SYNDROME


Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.

OCULOFACIOCARDIODENTAL SYNDROME Is also known as oculofaciocardiodental syndrome|anop2, formerly|cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome|microphthalmia, cataracts, radiculomegaly, and septal heart defects|maa2, formerly|ofcd syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOFACIOCARDIODENTAL SYNDROME

Low match FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A


Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. If all affected members of a family have classic CFEOM with bilateral involvement and inability to raise the eyes above midline, the phenotype is classified as CFEOM1 (OMIM ). CFEOM2 (OMIM ) shows autosomal recessive inheritance. CFEOM3 is characterized by autosomal dominant inheritance of a more variable phenotype than classic CFEOM1. Individuals with CFEOM3 may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis (reviews by Yamada et al., 2004 and Heidary et al., 2008).Yamada et al. (2003) concluded that CFEOM3 is a relatively rare form of CFEOM. Genetic Heterogeneity of CFEOM3The CFEOM3 phenotype is genetically heterogeneous; see also CFEOM3B (OMIM ), caused by mutation in the KIF21A gene on chromosome 12q12, and CFEOM3C (OMIM ), which maps to chromosome 13q.

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A Is also known as feom3 locus

Related symptoms:

  • Global developmental delay
  • Strabismus
  • Ptosis
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: OMIM MESH MENDELIAN

More info about FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A

Low match PRIMARY CILIARY DYSKINESIA


Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms).

PRIMARY CILIARY DYSKINESIA Is also known as ics|polynesian bronchiectasis|ciliary dyskinesia, primary, 1, with or without situs inversus|pcd|immotile cilia syndrome

Related symptoms:

  • Hearing impairment
  • Ventriculomegaly
  • Respiratory distress
  • Hydrocephalus
  • Headache


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY CILIARY DYSKINESIA

Low match JOUBERT SYNDROME


Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

JOUBERT SYNDROME Is also known as cerebelloparenchymal disorder iv|joubert syndrome type a|classic joubert syndrome|pure joubert syndrome|cpd iv|joubert-boltshauser syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME

Low match SCHEIE SYNDROME


Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

SCHEIE SYNDROME Is also known as mps v, formerly|mucopolysaccharidosis type 1s|mps5, formerly|mps1-s|mps1s|mucopolysaccharidosis type v, formerly|mpsis|mucopolysaccharidosis type is

Related symptoms:

  • Sensorineural hearing impairment
  • Visual impairment
  • Depressed nasal bridge
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHEIE SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Situs inversus totalis

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Strabismus Uncommon - Between 30% and 50% cases
Glaucoma Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Situs inversus totalis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Iris coloboma Hydrocephalus Encephalocele Coloboma Abnormal facial shape Retinal degeneration Narrow face Long face Ptosis High, narrow palate Scoliosis Sensorineural hearing impairment Microphthalmia Abnormality of cardiovascular system morphology Microcephaly Rod-cone dystrophy Visual impairment High palate Nystagmus Asplenia Ataxia Cryptorchidism Cleft palate Dextrocardia

Rare Symptoms - Less than 30% cases


Clinodactyly of the 5th finger Highly arched eyebrow Anteverted ears Diabetes mellitus Pulmonic stenosis Paraplegia Syndactyly Exotropia Aortic valve stenosis Foot polydactyly Spastic paraparesis Epicanthus Alopecia Hypospadias Cerebral atrophy Pes cavus Long philtrum Intellectual disability, mild Blindness Atrial septal defect Ventricular septal defect Mandibular prognathia Feeding difficulties Decreased testicular size Short stature Septate vagina Joint stiffness Bulbous nose Apnea Joint contracture of the hand Abnormality of the hair Anosmia Aganglionic megacolon Specific learning disability Genu valgum Abnormal heart morphology Myopia Flexion contracture Ectopia lentis Microcornea Micrognathia Polymicrogyria Full cheeks Congenital cataract Abnormality of the skeletal system Anophthalmia Aplasia/Hypoplasia of the corpus callosum Abdominal situs inversus Postaxial hand polydactyly Retinal detachment Patent ductus arteriosus Visual loss Motor delay Delayed speech and language development Reduced visual acuity Prominent nasal bridge Phthisis bulbi Ventriculomegaly Feeding difficulties in infancy Depressed nasal bridge Persistence of primary teeth Cephalocele Single median maxillary incisor Remnants of the hyaloid vascular system Asymmetry of the ears Fused teeth Transverse vaginal septum Multiple unerupted teeth Laterally curved eyebrow Flexion contracture of the 4th toe Bifid ureter Flexion contracture of the 2nd toe Occipital meningocele Peripapillary atrophy Peripheral neuropathy Agenesis of corpus callosum Exudative retinal detachment Facial palsy Cerebellar malformation Scarring Abnormal vitreous humor morphology Lymphangioma Band keratopathy Lens luxation Hand clenching Submucous cleft hard palate Peripheral pulmonary artery stenosis Renal agenesis Short thumb Hypothyroidism Umbilical hernia Decreased body weight Deeply set eye Mitral valve prolapse Dental malocclusion Short nose Intestinal malrotation Bifid uvula Blepharophimosis Delayed eruption of teeth Abnormal cardiac septum morphology Thick eyebrow Posteriorly rotated ears Abnormal palate morphology Talipes equinovarus Broad palm Bifid nasal tip Hypoplasia of the corpus callosum Misalignment of teeth Double outlet right ventricle Toe syndactyly Increased number of teeth Vomiting Oligodontia Abnormality of the dentition Adrenal insufficiency 2-3 toe syndactyly Hammertoe Heart murmur Cubitus valgus Radioulnar synostosis Broad nasal tip Superior rectus atrophy Camptodactyly of finger Abnormality of neuronal migration Coarse facial features Skeletal dysplasia Splenomegaly Short neck Hepatomegaly Episodic tachypnea Abnormal pattern of respiration Abnormality of the hypothalamus-pituitary axis Biparietal narrowing Hand polydactyly Corneal opacity Oculomotor apraxia Abnormal form of the vertebral bodies Cerebellar vermis hypoplasia Oral cleft Anteverted nares Gait disturbance Tremor Low-set ears Muscular hypotonia Wide mouth Wide nose Crackles Dysostosis multiplex Cervical cord compression Urinary glycosaminoglycan excretion Abnormal nerve conduction velocity Mucopolysacchariduria Abnormality of peripheral nerve conduction Constrictive median neuropathy Spondylolisthesis Broad face Mitral stenosis Spinal cord compression Thick vermilion border Obstructive sleep apnea Rhinitis Stridor Sleep apnea Cerebral palsy Aortic regurgitation Limitation of joint mobility Syncope Everted lower lip vermilion Abnormal respiratory motile cilium morphology Absent frontal sinuses Ophthalmoplegia Total anomalous pulmonary venous return Conductive hearing impairment Recurrent respiratory infections Pneumonia Recurrent infections Headache Respiratory distress Sensory exotropia Nonprogressive restrictive external ophthalmoplegia Levator palpebrae superioris atrophy Compensatory chin elevation Cough Restrictive external ophthalmoplegia Congenital fibrosis of extraocular muscles Corneal scarring Wrist flexion contracture External ophthalmoplegia Amblyopia Esotropia Peripheral axonal neuropathy Abnormality of movement Respiratory tract infection Infertility Immotile cilia Recurrent sinusitis Nasal polyposis Chronic rhinitis Abnormal cornea morphology Chronic bronchitis Nasal obstruction Communicating hydrocephalus Duodenal atresia Polysplenia Chronic sinusitis Bronchitis Dyskinesia Male infertility Ciliary dyskinesia Neonatal respiratory distress Chronic otitis media Sinusitis Bronchiectasis Abnormal lung morphology Recurrent otitis media Otitis media Macular hypoplasia Decreased head circumference Aplasia cutis congenita of scalp Retinal dystrophy Abnormality of the genital system Primary amenorrhea Pigmentary retinopathy Amenorrhea Asthma Hypodontia Short foot Postaxial polydactyly Dental crowding Hirsutism Stage 5 chronic kidney disease Astigmatism Neurological speech impairment Retinopathy Abnormality of the kidney Micropenis Polydactyly Left ventricular hypertrophy Hepatic fibrosis Obesity Broad foot Biliary tract abnormality Microphallus Tapetoretinal degeneration Menstrual irregularities Vaginal atresia Abnormality of the ovary Gait imbalance Undetectable electroretinogram Poor coordination Bicuspid aortic valve Nephronophthisis Truncal obesity External genital hypoplasia Macular dystrophy Hypoplasia of the uterus Tricuspid regurgitation Radial deviation of finger Clubbing Hypogonadism Renal insufficiency Hydrometrocolpos Optic atrophy Depressed nasal ridge Ambiguous genitalia Oligohydramnios Sloping forehead Dandy-Walker malformation Talipes Low-set, posteriorly rotated ears Hypertelorism Multicystic kidney dysplasia Epiretinal membrane Posterior subcapsular cataract Subcapsular cataract Macular atrophy Cone/cone-rod dystrophy Optic disc pallor Abnormality of skin pigmentation Pallor Bowing of the long bones Preaxial hand polydactyly Macrocephaly Abnormal chorioretinal morphology Brachydactyly Hypertension Cystic liver disease Lobar holoprosencephaly True hermaphroditism Pancreatic fibrosis Aplasia/Hypoplasia of the tongue Urethral atresia Aplasia/Hypoplasia of the iris Anencephaly Accessory spleen Pancreatic cysts Ureteral duplication Congenital hepatic fibrosis Furrowed tongue Sclerocornea Postaxial foot polydactyly Male pseudohermaphroditism Nephrogenic diabetes insipidus Growth delay Anomalous pulmonary venous return Round ear Mental deterioration Retrognathia Midface retrusion Cerebellar atrophy Generalized hypotonia Abnormal hair laboratory examination Narrow foot Phimosis Leukemia Moderately short stature Macrodontia Broad columella Thin eyebrow Heterotaxy Abnormality of the rib cage Small face Abnormality of the thumb Nyctalopia Joint hyperflexibility Ankylosis Chorioretinal atrophy Large forehead Calvarial skull defect Vitreoretinopathy Meningocele Acute lymphoblastic leukemia Aplasia cutis congenita Occipital encephalocele Absent septum pellucidum Cortical dysplasia Vesicoureteral reflux Pyloric stenosis Corneal dystrophy Macular degeneration Horizontal nystagmus Pachygyria Thin skin High myopia Progressive visual loss Sparse lateral eyebrow Sprengel anomaly Failure to thrive Severe short stature Camptodactyly Abnormality of the nervous system Anxiety Thin upper lip vermilion Macrotia Narrow mouth Brachycephaly Upslanted palpebral fissure Pectus excavatum Sparse hair Malar flattening Behavioral abnormality Intellectual disability, severe Skeletal muscle atrophy Intrauterine growth retardation Wide nasal bridge Hyperreflexia Spasticity Protruding ear Short philtrum Prominent metopic ridge Cachexia High hypermetropia Spastic diplegia Mild short stature Cupped ear Chorioretinal coloboma Failure to thrive in infancy Nasal speech Poor suck Renal hypoplasia Spastic paraplegia Abnormality of the ribs Tetralogy of Fallot Prominent nose Triangular face Hypoplasia of the maxilla Arachnodactyly Anal atresia Hypermetropia Tricuspid atresia



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