Visual impairment, and Situs inversus totalis

Diseases related with Visual impairment and Situs inversus totalis

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


Top matches:

Low match NEPHRONOPHTHISIS 14; NPHP14


Related symptoms:

  • Abnormality of the kidney
  • Retinal degeneration
  • Cerebellar vermis hypoplasia
  • Situs inversus totalis
  • Polycystic kidney dysplasia


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS 14; NPHP14

Low 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

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

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Other less relevant matches:

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

Low match THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME


Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

Low 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

Low 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 JOUBERT SYNDROME WITH OCULAR DEFECT


Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy.

JOUBERT SYNDROME WITH OCULAR DEFECT Is also known as joubert syndrome with retinopathy|js-o

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH OCULAR DEFECT

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

Top 5 symptoms//phenotypes associated to Visual impairment and Situs inversus totalis

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Strabismus Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Retinal degeneration Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Intellectual disability Ataxia Nystagmus Iris coloboma Visual loss Sensorineural hearing impairment Glaucoma Scoliosis Abnormal facial shape High, narrow palate Retinal dystrophy Coloboma High palate Diabetes mellitus Abnormal heart morphology Atrial septal defect Ventricular septal defect Cryptorchidism Microcephaly Cleft palate Feeding difficulties Short stature Narrow face Ptosis Dextrocardia Long face

Rare Symptoms - Less than 30% cases


Abnormal cardiac septum morphology Hydrocephalus Abnormality of cardiovascular system morphology Amenorrhea Prominent nasal bridge Highly arched eyebrow Polymicrogyria Delayed speech and language development Encephalocele Motor delay Patent ductus arteriosus Congenital cataract Retinal detachment Ectopia lentis Phthisis bulbi Anteverted ears Microphthalmia Myopia Alopecia Intellectual disability, mild Blindness Epicanthus Cerebral atrophy Hypospadias Clinodactyly of the 5th finger Septate vagina Long philtrum Foot polydactyly Aganglionic megacolon Decreased testicular size Bulbous nose Paraplegia Pulmonic stenosis Abnormality of the hair Syndactyly Abnormality of the kidney Spastic paraparesis Abnormality of the skeletal system Cone/cone-rod dystrophy Joint contracture of the hand Apnea Joint stiffness Exotropia Pallor Abdominal situs inversus Specific learning disability Genu valgum Cerebellar vermis hypoplasia Pes cavus Reduced visual acuity Aortic valve stenosis Mandibular prognathia Rod-cone dystrophy Depressed nasal bridge Agenesis of corpus callosum Nephronophthisis Flexion contracture Mental deterioration Oculomotor apraxia Low-set, posteriorly rotated ears Macular atrophy Oral cleft High myopia Optic disc pallor Abnormality of skin pigmentation Progressive visual loss Abnormal vertebral morphology Cerebellar atrophy Vesicoureteral reflux Retrognathia Hand polydactyly Nyctalopia Ventriculomegaly Midface retrusion Molar tooth sign on MRI Biparietal narrowing Joint hyperflexibility Congenital blindness Retinal coloboma Leukemia Abnormality of the hypothalamus-pituitary axis Subcapsular cataract Generalized hypotonia Abnormal pattern of respiration Muscular hypotonia Posterior subcapsular cataract Poor suck High hypermetropia Spastic diplegia Mild short stature Cupped ear Chorioretinal coloboma Failure to thrive in infancy Nasal speech Cachexia Sprengel anomaly Epiretinal membrane Renal hypoplasia Abnormality of the ribs Tetralogy of Fallot Prominent nose Triangular face Hypoplasia of the maxilla Prominent metopic ridge Ankylosis Anteverted nares Phimosis Gait disturbance Tremor Pachygyria Abnormal hair laboratory examination Decreased head circumference Narrow foot Round ear Moderately short stature Sparse lateral eyebrow Macrodontia Broad columella Thin eyebrow Heterotaxy Abnormality of the rib cage Small face Abnormality of the thumb Thin skin Cortical dysplasia Horizontal nystagmus Short thumb Anophthalmia Hammertoe Heart murmur Cubitus valgus Radioulnar synostosis Oligodontia Abnormal palate morphology Decreased body weight Adrenal insufficiency Mitral valve prolapse Renal agenesis Dental malocclusion Intestinal malrotation Bifid uvula Broad nasal tip Microcornea 2-3 toe syndactyly Broad palm Thick eyebrow Single median maxillary incisor Flexion contracture of the 2nd toe Flexion contracture of the 4th toe Multiple unerupted teeth Fused teeth Transverse vaginal septum Asymmetry of the ears Remnants of the hyaloid vascular system Persistence of primary teeth Increased number of teeth Hand clenching Peripheral pulmonary artery stenosis Bifid nasal tip Asplenia Misalignment of teeth Double outlet right ventricle Submucous cleft hard palate Delayed eruption of teeth Toe syndactyly Macular degeneration Meningocele Macular hypoplasia Total anomalous pulmonary venous return Aplasia cutis congenita of scalp Anomalous pulmonary venous return Large forehead Calvarial skull defect Vitreoretinopathy Acute lymphoblastic leukemia Band keratopathy Aplasia cutis congenita Occipital encephalocele Absent septum pellucidum Chorioretinal atrophy Polycystic kidney dysplasia Pyloric stenosis Corneal dystrophy Lens luxation Lymphangioma Blepharophimosis Vomiting Feeding difficulties in infancy Deeply set eye Umbilical hernia Hypothyroidism Posteriorly rotated ears Short nose Abnormality of the dentition Hypoplasia of the corpus callosum Abnormal vitreous humor morphology Talipes equinovarus Cephalocele Bifid ureter Occipital meningocele Peripapillary atrophy Exudative retinal detachment Cerebellar malformation Peripheral neuropathy Sparse hair Arachnodactyly Cardiac arrest Secondary amenorrhea Hyperglycemia Myelodysplasia Polycystic ovaries Aminoaciduria Hoarse voice Anorexia Megaloblastic anemia Pancytopenia Bilateral sensorineural hearing impairment Abnormality of the skin Aciduria Neutropenia Polyneuropathy Skeletal dysplasia Macrocytic anemia Abnormality of the basal ganglia Lethargy Renal insufficiency Neurological speech impairment Retinopathy Micropenis Polydactyly Hypogonadism Obesity Hepatomegaly Macrocephaly Sideroblastic anemia Brachydactyly Hypertension Short neck Splenomegaly Thiamine-responsive megaloblastic anemia Paroxysmal atrial tachycardia Progressive peripheral neuropathy Paresthesia Stroke Nonprogressive restrictive external ophthalmoplegia Broad face Urinary glycosaminoglycan excretion Abnormal nerve conduction velocity Mucopolysacchariduria Abnormality of peripheral nerve conduction Constrictive median neuropathy Spondylolisthesis Mitral stenosis Tricuspid atresia Dysostosis multiplex Spinal cord compression Obstructive sleep apnea Rhinitis Stridor Sleep apnea Cerebral palsy Cervical cord compression Limitation of joint mobility Coarse facial features Diarrhea Hypoglycemia Gastroesophageal reflux Arrhythmia Wide mouth Thrombocytopenia Headache Congestive heart failure Corneal opacity Syncope Cardiomyopathy Optic atrophy Anemia Wide nose Thick vermilion border Everted lower lip vermilion Full cheeks Sensory exotropia Astigmatism Anal atresia Intrauterine growth retardation Malar flattening Peripheral axonal neuropathy Esotropia Behavioral abnormality Intellectual disability, severe Skeletal muscle atrophy Wide nasal bridge Ophthalmoplegia Hyperreflexia Amblyopia Spasticity External ophthalmoplegia Micrognathia Failure to thrive Growth delay Abnormality of movement Camptodactyly of finger Corneal scarring Anxiety Hypermetropia Spastic paraplegia Short philtrum Aortic regurgitation Protruding ear Camptodactyly Abnormality of the nervous system Thin upper lip vermilion Pectus excavatum Macrotia Narrow mouth Brachycephaly Upslanted palpebral fissure Severe short stature Facial palsy Scarring Wrist flexion contracture Hydrometrocolpos Stage 5 chronic kidney disease Pigmentary retinopathy Hepatic fibrosis Dental crowding Left ventricular hypertrophy Restrictive external ophthalmoplegia Abnormality of the genital system Primary amenorrhea Postaxial hand polydactyly Compensatory chin elevation Anosmia Asthma Hypodontia Short foot Superior rectus atrophy Postaxial polydactyly Levator palpebrae superioris atrophy Hirsutism Bicuspid aortic valve Clubbing Nephrogenic diabetes insipidus Undetectable electroretinogram Biliary tract abnormality Microphallus Tapetoretinal degeneration Menstrual irregularities Vaginal atresia Abnormality of the ovary Gait imbalance Broad foot Radial deviation of finger Poor coordination Congenital fibrosis of extraocular muscles Truncal obesity External genital hypoplasia Macular dystrophy Hypoplasia of the uterus Tricuspid regurgitation Laterally curved eyebrow



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