Cognitive impairment, and Photophobia

Diseases related with Cognitive impairment and Photophobia

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


Top matches:

Medium 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

Medium 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

Medium 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

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Other less relevant matches:

Medium match BOUCHER-NEUHAUSER SYNDROME; BNHS


Boucher-Neuhauser syndrome is an autosomal recessive disorder characterized classically by the triad of spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop one or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present. BNHS is part of a spectrum of neurodegenerative diseases associated with mutations in the PNPLA6 gene that also includes spastic paraplegia-39 (SPG39 ) (summary by Synofzik et al., 2014).See also Gordon Holmes syndrome (GDHS ), caused by mutation in the RNF216 gene (OMIM ), which is also characterized by the combination of cerebellar ataxia and hypogonadotropic hypogonadism.

BOUCHER-NEUHAUSER SYNDROME; BNHS Is also known as spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Visual impairment
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about BOUCHER-NEUHAUSER SYNDROME; BNHS

Medium match SPINOCEREBELLAR ATAXIA TYPE 7


Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.

SPINOCEREBELLAR ATAXIA TYPE 7 Is also known as ataxia with pigmentary retinopathy|sca7|cerebellar syndrome-pigmentary maculopathy syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 7

Medium match NEPHROPATHIC INFANTILE CYSTINOSIS


Nephropathic infantile cystinosis is the most common and severe form of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Cognitive impairment
  • Vomiting
  • Constipation


SOURCES: ORPHANET MENDELIAN

More info about NEPHROPATHIC INFANTILE CYSTINOSIS

Medium match MOHR-TRANEBJAERG SYNDROME


Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.

MOHR-TRANEBJAERG SYNDROME Is also known as deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency|deafness-dystonia-optic atrophy syndrome|deafness-dystonia-optic neuronopathy syndrome|dystonia-deafness syndrome|ddon syndrome|opticoacoustic nerve atrophy with de

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Sensorineural hearing impairment
  • Spasticity
  • Visual impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MOHR-TRANEBJAERG SYNDROME

Medium match PCNA-RELATED PROGRESSIVE NEURODEGENERATIVE PHOTOSENSITIVITY SYNDROME


PCNA-related progressive neurodegenerative photosensitivity syndrome is a rare neurodegenerative disease caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PCNA-RELATED PROGRESSIVE NEURODEGENERATIVE PHOTOSENSITIVITY SYNDROME

Medium match CYCLIC VOMITING SYNDROME; CVS


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CYCLIC VOMITING SYNDROME; CVS

Medium match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD


Xeroderma pigmentosum is a rare autosomal recessive disorder characterized by acute photosensitivity and a predisposition to skin cancer on sun-exposed areas of the body. The primary defect in XP involves nucleotide excision repair (NER) (summary by Flejter et al., 1992).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD Is also known as xp8, formerly|xph, formerly|xp4 xeroderma pigmentosum viii, formerly|xpdc|xp, group d|xp, group h, formerly|xeroderma pigmentosum iv

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Ataxia
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD

Top 5 symptoms//phenotypes associated to Cognitive impairment and Photophobia

Symptoms // Phenotype % cases
Ataxia Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
Mental deterioration Uncommon - Between 30% and 50% cases
Pallor Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Blindness Visual loss Reduced visual acuity Spasticity Intellectual disability Muscle weakness Dysphagia Hearing impairment Cerebellar atrophy Microcephaly Sensorineural hearing impairment Retinal dystrophy Nyctalopia

Rare Symptoms - Less than 30% cases


Telangiectasia Growth delay Vomiting Hyperreflexia Motor delay Progressive sensorineural hearing impairment Failure to thrive Unsteady gait Gait ataxia Hyporeflexia Cutaneous photosensitivity Dementia Tremor Optic disc pallor Myopia Visual impairment Rod-cone dystrophy Macular degeneration Exercise intolerance Constriction of peripheral visual field Corneal neovascularization Short stature Flexion contracture Pes cavus Poikiloderma Immunodeficiency Neurodegeneration Keratoconjunctivitis sicca Progressive muscle weakness Conjunctival telangiectasia Postlingual sensorineural hearing impairment Abnormal posturing Basal ganglia gliosis Generalized hypotonia Agammaglobulinemia Optic neuropathy Entropion Increased susceptibility to fractures Abnormal electroretinogram Cerebral visual impairment Neuronal loss in central nervous system Gliosis Cerebral cortical atrophy Hyperactivity Dystonia Optic atrophy Peripheral neuropathy Seizures Muscular hypotonia Strabismus Attention deficit hyperactivity disorder Microphthalmia Cataract Neoplasm Choreoathetosis Gastrointestinal dysmotility Abnormality of mitochondrial metabolism Abnormal autonomic nervous system physiology Anorexia Conjunctivitis Migraine Nausea Vertigo Nausea and vomiting Lethargy Autism Abnormality of the nervous system Hyperhidrosis Headache Behavioral abnormality Diarrhea Neoplasm of the skin Myopathy Melanoma Dermal atrophy Ectropion Cardiomyopathy Fatigue Fever Pain Keratitis Abdominal pain Hypokalemia Abnormality of vitamin D metabolism Delayed puberty Nystagmus Spinocerebellar atrophy Chorioretinal dystrophy Abnormal upper motor neuron morphology Scanning speech Chorioretinal atrophy Hypogonadotrophic hypogonadism Primary amenorrhea Intention tremor Amenorrhea Progressive visual loss Distal amyotrophy Paraplegia Infertility Spastic paraplegia Congestive heart failure Anemia Central scotoma Polydactyly High myopia Attenuation of retinal blood vessels Bone spicule pigmentation of the retina Abnormal light- and dark-adapted electroretinogram Retinal degeneration Hypogonadism Abnormality of skin pigmentation Macular atrophy Chorioretinal degeneration Skeletal muscle atrophy Abnormality of metabolism/homeostasis Areflexia Feeding difficulties Cerebral atrophy Abnormality of ion homeostasis Dehydration Abnormality of thyroid physiology Low-molecular-weight proteinuria Hyperchloremic metabolic acidosis Tubulointerstitial abnormality Renal Fanconi syndrome Corneal crystals Abnormal cornea morphology Hyperphosphaturia Renal tubular dysfunction Glycosuria Hypophosphatemia Rickets Polydipsia Aminoaciduria Pigmentary retinopathy Babinski sign Dysdiadochokinesis Neonatal hypotonia Ophthalmoplegia Dysmetria Sensory impairment Psychosis Cone/cone-rod dystrophy Ophthalmoparesis Abnormality of the cerebral white matter Orofacial dyskinesia Restless legs Hemeralopia Abnormal fundus morphology Constipation Acidosis Defective DNA repair after ultraviolet radiation damage



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Vomiting, related diseases and genetic alterations High palate and Dilated cardiomyopathy, related diseases and genetic alterations Failure to thrive and Retinoblastoma, related diseases and genetic alterations Hypertension and Hematuria, related diseases and genetic alterations Muscular hypotonia and Dolichocephaly, related diseases and genetic alterations Neoplasm and Short distal phalanx of finger, related diseases and genetic alterations

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