Myopia, and Situs inversus totalis

Diseases related with Myopia and Situs inversus totalis

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


Top matches:

High 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

Medium 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

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

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Other less relevant matches:

Low match TIMOTHY SYNDROME


Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

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 MYOPIA 6; MYP6


Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).For a discussion of genetic heterogeneity of susceptibility to myopia, see {160700}.

Related symptoms:

  • Myopia


SOURCES: MESH OMIM MENDELIAN

More info about MYOPIA 6; MYP6

Low match ATRIAL SEPTAL DEFECT 2; ASD2


Related symptoms:

  • Ventricular septal defect
  • Atrial septal defect
  • Abnormality of cardiovascular system morphology
  • Abnormal heart morphology
  • Abnormal cardiac septum morphology


SOURCES: MESH OMIM MENDELIAN

More info about ATRIAL SEPTAL DEFECT 2; ASD2

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 BARDET-BIEDL SYNDROME 17; BBS17


BBS17 is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17 mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation (Deffert et al., 2007; Schaefer et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Cognitive impairment
  • Brachydactyly
  • Renal insufficiency
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 17; BBS17

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

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

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormal heart morphology Ventricular septal defect Rod-cone dystrophy Abnormal facial shape Seizures

Rare Symptoms - Less than 30% cases


Undetectable electroretinogram Nephronophthisis Cognitive impairment Cone/cone-rod dystrophy Behavioral abnormality Atrial septal defect Anosmia Thin upper lip vermilion Foot polydactyly Depressed nasal bridge Generalized hypotonia Decreased testicular size Epicanthus Wide nasal bridge Blindness Abnormality of cardiovascular system morphology Cerebral atrophy Patent ductus arteriosus Alopecia Bulbous nose Abnormal cardiac septum morphology Abnormality of the hair Narrow face Dextrocardia Esotropia Specific learning disability External genital hypoplasia Diabetes mellitus Micropenis Hypoplasia of the maxilla Delayed speech and language development Tetralogy of Fallot Coloboma Abnormality of the kidney Reduced visual acuity Polydactyly High palate Glaucoma Hypogonadism Obesity Visual impairment Syndactyly Renal insufficiency Stage 5 chronic kidney disease Paraplegia Brachydactyly Iris coloboma High, narrow palate Hearing impairment Ataxia Postaxial polydactyly Nystagmus Joint contracture of the hand Joint hypermobility Round face Chorioretinal coloboma Abnormality of the face Hip dislocation Pulmonary arterial hypertension Cardiomegaly Microdontia Arrhythmia Constipation Autistic behavior Syncope Encephalopathy Pneumonia Sudden cardiac death Carious teeth Prominent forehead Autism Coma Hypothyroidism Gastroesophageal reflux Hypoglycemia Hypertrophic cardiomyopathy Toe syndactyly Sprengel anomaly Depressivity Round ear Sparse lateral eyebrow Prominent metopic ridge Abnormality of the thumb Small face Abnormality of the rib cage Heterotaxy Thin eyebrow Broad columella Anteverted ears Macrodontia Moderately short stature High hypermetropia Phimosis Narrow foot Cupped ear Decreased head circumference Abnormal hair laboratory examination Sinusitis Spastic diplegia Hypertelorism Mild short stature Muscular hypotonia Low-set ears Dysphagia Myopathy Abnormality of the dentition Ankylosis Immunodeficiency Recurrent infections Hypoplasia of dental enamel Perimembranous ventricular septal defect Bradycardia Facial palsy Amblyopia Peripheral axonal neuropathy Abnormality of movement Ophthalmoplegia Camptodactyly of finger Scarring Agenesis of corpus callosum External ophthalmoplegia Peripheral neuropathy Flexion contracture Ptosis Atrioventricular canal defect Epiretinal membrane Abdominal situs inversus Exotropia Wrist flexion contracture Subcapsular cataract Renal cyst Mesoaxial polydactyly Bilateral postaxial polydactyly Hyposmia Postaxial foot polydactyly Polyuria Polydipsia Sensory exotropia Corneal scarring Nonprogressive restrictive external ophthalmoplegia Levator palpebrae superioris atrophy Superior rectus atrophy Compensatory chin elevation Restrictive external ophthalmoplegia Congenital fibrosis of extraocular muscles Posterior subcapsular cataract Macular atrophy Cardiac arrest Patent foramen ovale Mixed hearing impairment Prolonged QT interval Multiple joint contractures 2-3 toe syndactyly Ventricular fibrillation Obsessive-compulsive behavior Atrioventricular block Cutaneous finger syndactyly Optic nerve hypoplasia Ventricular arrhythmia Cutaneous syndactyly Ventricular tachycardia Abnormality of dental enamel Hypocalcemia Bronchitis Protruding tongue Optic disc pallor Atrioventricular dissociation Abnormality of skin pigmentation Pallor Congenital blindness Polycystic kidney dysplasia Cerebellar vermis hypoplasia Abnormal direction of ventricular apex T-wave alternans Amelogenesis imperfecta Abnormality of dental color Frontal balding Biventricular hypertrophy Cutaneous syndactyly of toes Torsade de pointes Nasal speech Hypothermia Failure to thrive in infancy Clinodactyly of the 5th finger Poor suck Nyctalopia Tapetoretinal degeneration Microphallus Biliary tract abnormality Nephrogenic diabetes insipidus Hydrometrocolpos Septate vagina Motor delay Ventriculomegaly Hydrocephalus Cerebellar atrophy Midface retrusion Visual loss Retrognathia Mental deterioration Leukemia Vaginal atresia Congenital cataract Joint hyperflexibility Polymicrogyria Retinal detachment Vesicoureteral reflux Progressive visual loss High myopia Thin skin Encephalocele Pachygyria Horizontal nystagmus Macular degeneration Corneal dystrophy Pyloric stenosis Menstrual irregularities Abnormality of the ovary Cortical dysplasia Postaxial hand polydactyly Cryptorchidism Hypertension Macrocephaly Retinopathy Neurological speech impairment Pulmonic stenosis Astigmatism Hirsutism Retinal dystrophy Short foot Hypodontia Asthma Amenorrhea Pigmentary retinopathy Primary amenorrhea Gait imbalance Abnormality of the genital system Aganglionic megacolon Left ventricular hypertrophy Dental crowding Hepatic fibrosis Bicuspid aortic valve Clubbing Radial deviation of finger Tricuspid regurgitation Hypoplasia of the uterus Macular dystrophy Truncal obesity Poor coordination Broad foot Ectopia lentis Chorioretinal atrophy Cachexia Anxiety Intellectual disability, severe Intellectual disability, mild Long philtrum Malar flattening Microphthalmia Hypospadias Pectus excavatum Pes cavus Severe short stature Upslanted palpebral fissure Brachycephaly Narrow mouth Mandibular prognathia Macrotia Abnormality of the nervous system Intrauterine growth retardation Camptodactyly Protruding ear Joint stiffness Sparse hair Short philtrum Spastic paraplegia Hypermetropia Anal atresia Arachnodactyly Long face Triangular face Prominent nose Abnormality of the ribs Renal hypoplasia Skeletal muscle atrophy Hyperreflexia Absent septum pellucidum Phthisis bulbi Occipital encephalocele Aplasia cutis congenita Acute lymphoblastic leukemia Meningocele Vitreoretinopathy Calvarial skull defect Large forehead Anomalous pulmonary venous return Aplasia cutis congenita of scalp Total anomalous pulmonary venous return Macular hypoplasia Lens luxation Band keratopathy Lymphangioma Abnormal vitreous humor morphology Feeding difficulties Scoliosis Spasticity Cleft palate Sensorineural hearing impairment Micrognathia Failure to thrive Growth delay Microcephaly Cerebellar malformation Short stature Cephalocele Bifid ureter Occipital meningocele Peripapillary atrophy Exudative retinal detachment Y-shaped metacarpals



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