Cognitive impairment, and Hypopigmentation of the skin

Diseases related with Cognitive impairment and Hypopigmentation of the skin

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


Top matches:

Low match VOGT-KOYANAGI-HARADA DISEASE


Vogt-Koyanagi-Harada disease is a bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations.

VOGT-KOYANAGI-HARADA DISEASE Is also known as uveomenigitic syndrome

Related symptoms:

  • Short stature
  • Sensorineural hearing impairment
  • Cataract
  • Cognitive impairment
  • Visual impairment


SOURCES: ORPHANET MESH MENDELIAN

More info about VOGT-KOYANAGI-HARADA DISEASE

Low match BENIGN FAMILIAL NEONATAL EPILEPSY


Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Low match CLASSIC PHENYLKETONURIA


Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.

CLASSIC PHENYLKETONURIA Is also known as classic pku

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC PHENYLKETONURIA

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Other less relevant matches:

Low match WAARDENBURG SYNDROME, TYPE 2E; WS2E


Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by Read and Newton, 1997). Individuals with WS type 2E, which is caused by mutation in the SOX10 gene (OMIM ), may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; {193510}).For a description of other clinical variants of Waardenburg syndrome, see WS1 (OMIM ), WS3 (OMIM ), and WS4 (OMIM ).

WAARDENBURG SYNDROME, TYPE 2E; WS2E Is also known as hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation|waardenburg syndrome, type 2e, with or without neurologic involvement|ws2e, with or without neurologic involvement|waardenburg syndrome, type iie

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 2E; WS2E

Low match SEA-BLUE HISTIOCYTOSIS


A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining.

SEA-BLUE HISTIOCYTOSIS Is also known as sea-blue histiocytosis|histiocytosis, sea-blue

Related symptoms:

  • Seizures
  • Ataxia
  • Peripheral neuropathy
  • Hepatomegaly
  • Gait disturbance


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SEA-BLUE HISTIOCYTOSIS

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23


Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23 Is also known as spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome|lison syndrome|spg23|spastic paraparesis, vitiligo, premature graying, characteristic facies|spastic paraplegia with pigmentary abnormalities

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Ataxia
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23

Low match HARTNUP DISEASE


Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type|hartnup disease|hartnup disorder

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HARTNUP DISEASE

Low match ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME


Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME Is also known as gillespie syndrome|aniridia, cerebellar ataxia, and mental retardation

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME

Low match COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY


COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.

COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY Is also known as col4a1-related brain small vessel disease with hemorrhage|leukoencephalopathy with axenfeld-rieger anomaly|brain small vessel disease with axenfeld-rieger anomaly|brain small vessel disease with hemorrhage|infantile hemiparesis|retinal arteriolar tortuosi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

Low match GRISCELLI SYNDROME, TYPE 2; GS2


GRISCELLI SYNDROME, TYPE 2; GS2 Is also known as partial albinism and immunodeficiency syndrome|griscelli syndrome with hemophagocytic syndrome|paid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GRISCELLI SYNDROME, TYPE 2; GS2

Top 5 symptoms//phenotypes associated to Cognitive impairment and Hypopigmentation of the skin

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Nystagmus Uncommon - Between 30% and 50% cases
Hypertonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Short stature Premature graying of hair Hypopigmented skin patches Visual impairment Cataract Depressivity Generalized hypotonia Abnormality of the nervous system Gait disturbance Cafe-au-lait spot Spasticity Strabismus Hypoplasia of the iris Dysarthria Muscular hypotonia White hair Tremor Hyperreflexia Microcephaly

Rare Symptoms - Less than 30% cases


Congenital cataract Abnormality of the eye Hepatosplenomegaly Dementia Thrombocytopenia Edema Splenomegaly Intellectual disability, mild Abnormality of movement Hepatomegaly Peripheral neuropathy Abnormal cerebellum morphology Hypopigmentation of the fundus Corneal opacity Headache Retinopathy Hydrocephalus Sensorineural hearing impairment Cirrhosis Petechiae Pulmonary infiltrates Sepsis Paraparesis Spastic paraparesis Silver-gray hair Unsteady gait Ptosis Gait ataxia Fever Cerebellar atrophy Migraine Albinism Muscular hypotonia of the trunk Abnormal eyelash morphology Retinal detachment Glaucoma Autism Nausea and vomiting Paraplegia Vitiligo Hemiplegia Hyperphenylalaninemia Hearing impairment Dilatation Abnormal eyebrow morphology Cranial nerve paralysis Facial palsy Titubation Abnormality of the pulmonary artery Broad distal phalanx of finger Scanning speech Craniofacial asymmetry Truncal titubation Frontal cortical atrophy Myopia Cardiomyopathy Microphthalmia Elevated serum creatine phosphokinase Stroke Hypoplasia of the fovea Abnormality of the cerebral white matter Hypermetropia Astigmatism Abnormality of neutrophils Tachycardia Hematuria Partial albinism Hemophagocytosis Nephropathy Microcornea Renal cyst Muscle cramps Speech apraxia Hearing abnormality Spastic tetraplegia Pulmonic stenosis Absent speech Cerebellar hypoplasia Cerebral cortical atrophy Reduced visual acuity Mandibular prognathia Neonatal hypotonia Coloboma Melanin pigment aggregation in hair shafts Neurological speech impairment Sparse scalp hair Synophrys Cutaneous anergy Aniridia High, narrow palate Reduced delayed hypersensitivity Apraxia Involuntary movements Limb ataxia Low anterior hairline Poor head control Slurred speech Bilateral ptosis Postural tremor Mask-like facies Brisk reflexes Tetraplegia Hemiparesis Leukopenia Ascites Retinal arterial tortuosity Posterior leukoencephalopathy Thalamic hemorrhage Vomiting Immunodeficiency Recurrent infections Jaundice Rigidity Lethargy Lymphadenopathy Neutropenia Abnormality of lipid metabolism Peripapillary atrophy Decreased antibody level in blood Iris hypopigmentation Peripheral demyelination Hepatitis Pyloric stenosis Pancytopenia Reduced tendon reflexes Progressive neurologic deterioration Encephalocele Bone marrow hypocellularity Recurrent bacterial infections Hyperlipidemia Right hemiplegia Retinal arteriolar tortuosity Amblyopia Ectopia pupillae Leukoencephalopathy Dysphonia Intracranial hemorrhage Cerebral hemorrhage Blurred vision Generalized edema Scotoma Edema of the lower limbs Infantile spasms Posterior embryotoxon Increased intraocular pressure Supraventricular tachycardia Optic neuritis Corneal neovascularization Anterior segment developmental abnormality Anterior synechiae of the anterior chamber Porencephalic cyst Migraine with aura Retinal hemorrhage Neuritis Arterial tortuosity Rieger anomaly Polycoria Perivascular spaces Diffuse leukoencephalopathy Congenital glaucoma Downslanted palpebral fissures Cerebral atrophy Babinski sign Blepharitis Lack of skin elasticity Histiocytosis Mucopolysacchariduria Chronic myelogenous leukemia Mediastinal lymphadenopathy Absent axillary hair Elevated serum acid phosphatase Sea-blue histiocytosis Micrognathia Hypopigmentation of hair Flexion contracture Kyphoscoliosis Motor deterioration Retrognathia Hip dislocation Spastic paraplegia Lower limb muscle weakness Self-injurious behavior Nevus Sensory impairment Waddling gait Febrile seizures Spastic gait Narrow face Horseshoe kidney Autoimmune thrombocytopenia Purpura Abnormality of the genitourinary system Hypoplasia of the semicircular canal Congenital sensorineural hearing impairment Ocular albinism Blue irides Heterochromia iridis Misalignment of teeth Generalized hypopigmentation CNS hypomyelination White forelock Anosmia Cerebral hypomyelination White eyelashes White eyebrow Aplasia of the semicircular canal Hyperpigmentation of the skin Dilated vestibule of the inner ear Aganglionic megacolon Bilateral sensorineural hearing impairment Delayed eruption of teeth Telecanthus Pectus excavatum Abnormality of the dentition Wide nasal bridge Leukemia Abnormal bleeding Hypertriglyceridemia Subcutaneous nodule Eczema Bowel incontinence Hypoplasia of the corpus callosum Bruxism Inflammatory abnormality of the skin Chronic diarrhea Diplopia Hallucinations Aminoaciduria Abnormality of vision Encephalitis Emotional lability Insomnia Irregular hyperpigmentation Delusions Gingivitis Episodic ataxia Psychosis Methylmalonic aciduria Abnormal urinary color Mood changes Glossitis Neural tube defect Glabellar reflex Grasp reflex Neutral hyperaminoaciduria Motor delay Optic atrophy Severe sensorineural hearing impairment Anteverted nares Cutaneous photosensitivity Abnormal blistering of the skin Axonal degeneration Mental deterioration Progressive spastic paraplegia Progeroid facial appearance Progressive spastic paraparesis Multiple lentigines Flexion contracture of toe Bowel urgency Cerebral calcification Hyperpigmented nevi Hyperpigmentation in sun-exposed areas Premature graying of body hair Memory impairment Attention deficit hyperactivity disorder Diarrhea Aciduria Behavioral abnormality Intellectual disability, severe Gastroesophageal reflux Photophobia EEG abnormality Anxiety Skin rash Malabsorption Confusion Growth delay Vertigo Hepatic steatosis Poliosis Accumulation of melanosomes in melanocytes



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