Cognitive impairment, and Retinal dystrophy

Diseases related with Cognitive impairment and Retinal dystrophy

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Retinal dystrophy that can help you solving undiagnosed cases.


Top matches:

Low match CLN11 DISEASE


Neuronal ceroid lipofuscinosis-11 is an autosomal recessive neurologic disorder characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur (summary by Smith et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

Related symptoms:

  • Seizures
  • Ataxia
  • Visual impairment
  • Optic atrophy
  • Cerebellar atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLN11 DISEASE

Low match BARDET-BIEDL SYNDROME 10; BBS10


BBS10 is characterized by progressive retinal dystrophy, obesity, polydactyly, cognitive impairment, and renal dysplasia (Stoetzel et al., 2006). BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients (Stoetzel et al., 2006; Zaghloul and Katsanis, 2009).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Cognitive impairment
  • Renal insufficiency
  • Obesity
  • Rod-cone dystrophy
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 10; BBS10

Low match BARDET-BIEDL SYNDROME 4; BBS4


BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Cryptorchidism
  • Cognitive impairment
  • Brachydactyly
  • Blindness


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 4; BBS4

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Other less relevant matches:

Low match RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ANOMALIES


Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies is a rare, genetic, retinal dystrophy disorder characterized by decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with fotophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field.

RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ANOMALIES Is also known as retinal dystrophy with inner nuclear layer and ganglion cell anomalies

Related symptoms:

  • Dementia
  • Photophobia
  • Pallor
  • Nyctalopia
  • Retinal dystrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ANOMALIES

Low match RETINITIS PIGMENTOSA 51; RP51


Related symptoms:

  • Global developmental delay
  • Cognitive impairment
  • Myopia
  • Blindness
  • Rod-cone dystrophy


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 51; RP51

Low match BARDET-BIEDL SYNDROME 18; BBS18


BBS18 is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, kidney failure, and cognitive disability (Scheidecker et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Cataract
  • Cognitive impairment
  • Visual impairment
  • Brachydactyly
  • Renal insufficiency


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 18; BBS18

Low match JOUBERT SYNDROME 33; JBTS33


Joubert syndrome represents a classic ciliopathy characterized by hypotonia, ataxia, cognitive impairment, and a distinctive brain malformation, the 'molar tooth sign.' In addition, retinal dystrophy, cystic kidney disease, liver fibrosis, and polydactyly occur in a subset of patients (summary by Wheway et al., 2015).For a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Cognitive impairment
  • Polydactyly


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 33; JBTS33

Low match BARDET-BIEDL SYNDROME 5; BBS5


BBS5 is a ciliopathy associated with severe and early-onset retinal dystrophy, postaxial polydactyly, obesity, renal dysfunction, hypogonadism, and learning difficulties (summary by Scheidecker et al., 2015). Patients described by Young et al. (1999) and Moore et al. (2005) with mutations in the BBS5 gene did not have polydactyly. The contribution of BBS5 mutations to all cases of BBS has been estimated at 2% (Li et al., 2004) and 0.40% (Zaghloul and Katsanis, 2009).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Cognitive impairment
  • Visual impairment
  • Brachydactyly
  • Syndactyly
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 5; BBS5

Low match SENIOR-LOKEN SYNDROME 8; SLSN8


Related symptoms:

  • Cognitive impairment
  • Dilatation
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Pallor


SOURCES: OMIM MENDELIAN

More info about SENIOR-LOKEN SYNDROME 8; SLSN8

Low match RETINITIS PIGMENTOSA 79; RP79


Related symptoms:

  • Cognitive impairment
  • Anemia
  • Blindness
  • Visual loss
  • Rod-cone dystrophy


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 79; RP79

Top 5 symptoms//phenotypes associated to Cognitive impairment and Retinal dystrophy

Symptoms // Phenotype % cases
Rod-cone dystrophy Common - Between 50% and 80% cases
Polydactyly Uncommon - Between 30% and 50% cases
Reduced visual acuity Uncommon - Between 30% and 50% cases
Renal cyst Uncommon - Between 30% and 50% cases
Obesity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Retinal dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pallor Nyctalopia Photophobia Visual impairment Blindness Hypogonadism Brachydactyly

Rare Symptoms - Less than 30% cases


Optic disc pallor Syndactyly Ataxia Macular dystrophy Macular atrophy Retinal degeneration Visual loss Renal insufficiency Global developmental delay External genital hypoplasia Apnea Stage 5 chronic kidney disease Abnormality of the kidney Generalized hypotonia Molar tooth sign on MRI Nephronophthisis Postaxial polydactyly Severe vision loss Dilatation Abnormal light- and dark-adapted electroretinogram Hepatic cysts Pancreatic cysts Anemia Abnormality of skin pigmentation Exercise intolerance Constriction of peripheral visual field Cataract Seizures Bone spicule pigmentation of the retina Intellectual disability Optic atrophy Cerebellar atrophy EEG abnormality Mental deterioration Generalized myoclonic seizures Progressive visual loss Renal dysplasia Cryptorchidism Attenuation of retinal blood vessels Abnormality of the dentition Clinodactyly Anosmia Dementia Central scotoma Myopia High myopia Macular degeneration Chorioretinal degeneration



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