Visual impairment, and Skin rash

Diseases related with Visual impairment and Skin rash

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


Top matches:

Low match SUSCEPTIBILITY TO VIRAL AND MYCOBACTERIAL INFECTIONS


Susceptibility to viral and mycobacterial infections is a rare, genetic, primary immunodeficiency due to a defect in innate immunity disorder characterized by impaired intracellular signaling from both type I and type II interferons, leading to early-onset, severe, life-threatening intracellular bacterial (typically mycobacteria) and viral (mainly herpes viruses) infections.

SUSCEPTIBILITY TO VIRAL AND MYCOBACTERIAL INFECTIONS Is also known as immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive|stat1 deficiency, autosomal recessive|stat1 deficiency

Related symptoms:

  • Seizures
  • Respiratory distress
  • Blindness
  • Immunodeficiency
  • Hepatosplenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about SUSCEPTIBILITY TO VIRAL AND MYCOBACTERIAL INFECTIONS

Low match SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS


Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.

SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS Is also known as systemic-onset jia|systemic juvenile rheumatoid arthritis|still disease|systemic polyarthritis

Related symptoms:

  • Visual impairment
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Visual loss


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS

Low match HYPERTRYPTOPHANEMIA


Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.

HYPERTRYPTOPHANEMIA Is also known as hypertryptophanemia, familial

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRYPTOPHANEMIA

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE


Related symptoms:

  • Scoliosis
  • High palate
  • Visual impairment
  • Hypertension
  • Myopia


SOURCES: OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE

Low match BLAU SYNDROME; BLAUS


Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998).

BLAU SYNDROME; BLAUS Is also known as arthrocutaneouveal granulomatosis|granulomatous inflammatory arthritis, dermatitis, and uveitis, familial|eos|jabs syndrome|granulomatosis, familial juvenile systemic|acug|sarcoidosis, early-onset|granulomatosis, familial, blau type

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Cataract
  • Flexion contracture
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about BLAU SYNDROME; BLAUS

Low match BENIGN CHRONIC PEMPHIGUS; BCPM


Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

Low match HYPERLIPOPROTEINEMIA, TYPE I


HYPERLIPOPROTEINEMIA, TYPE I Is also known as lpl deficiency|hyperchylomicronemia, familial|lipase d deficiency|lipd deficiency|lipoprotein lipase deficiency|hyperlipemia, essential familial|chylomicronemia, familial|hyperlipemia, idiopathic, burger-grutz type|hyperlipoproteinemia, type ia

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Pain
  • Anemia
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about HYPERLIPOPROTEINEMIA, TYPE I

Low match CINCA SYNDROME


Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Low match STEVENS-JOHNSON SYNDROME


Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis (see this term) characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.

STEVENS-JOHNSON SYNDROME Is also known as dermatostomatitis, stevens johnson type

Related symptoms:

  • Anemia
  • Visual impairment
  • Fever
  • Fatigue
  • Dysphagia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about STEVENS-JOHNSON SYNDROME

Low match BIOTINIDASE DEFICIENCY


Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.

BIOTINIDASE DEFICIENCY Is also known as multiple carboxylase deficiency, late-onset|multiple carboxylase deficiency, juvenile-onset|btd deficiency|late-onset multiple carboxylase deficiency|juvenile-onset multiple carboxylase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BIOTINIDASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Visual impairment and Skin rash

Symptoms // Phenotype % cases
Fever Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Visual impairment and Skin rash. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Splenomegaly Sensorineural hearing impairment Hearing impairment Uveitis Edema Global developmental delay Nausea and vomiting Arthritis Visual loss Arthralgia Abdominal pain Juvenile rheumatoid arthritis Hepatomegaly Anemia Vomiting Myopia Blindness

Rare Symptoms - Less than 30% cases


High myopia Camptodactyly of finger Inflammatory abnormality of the skin Acantholysis Failure to thrive Eczema Papule Alopecia Cataract Frontal bossing Hypertension Fatigue Gastrointestinal hemorrhage Hyperhidrosis Overgrowth Abnormal blistering of the skin Urticaria Vasculitis Seizures Elevated hepatic transaminase Joint swelling Pancreatitis Myalgia Autoimmunity Lymphadenopathy Abnormality of neutrophils Elevated erythrocyte sedimentation rate Conjunctivitis Rheumatoid arthritis Elevated C-reactive protein level Depressivity Anterior uveitis Abnormal joint morphology Erythema Flexion contracture Pain Reduced bone mineral density Dysphagia Leukocytosis Abnormal granulocyte morphology Retrobulbar optic neuritis Arthropathy Progressive sensorineural hearing impairment Pseudopapilledema Abnormal thrombocyte morphology Delayed closure of the anterior fontanelle Amyloidosis Inflammatory abnormality of the eye Increased intracranial pressure Pancreatic calcification Purpura Recurrent pancreatitis Peripheral arterial stenosis Acanthocytosis Peritonitis Impaired proprioception Foam cells Precocious atherosclerosis Hypocholesterolemia Hyperlipoproteinemia Chills Acute pancreatitis Hypersplenism Intestinal bleeding Chronic pancreatitis Eruptive xanthomas Lipemia retinalis Joint dislocation Increased circulating chylomicron concentration Thrombocytopenia Increased hepatocellular lipid droplets Abnormality of vitamin metabolism Lactescent serum Abnormal facial shape Brachydactyly Macrocephaly Proptosis Skeletal dysplasia EEG abnormality Migraine Premature birth Meningitis Renal insufficiency Dysuria Recurrent respiratory infections Infantile spasms Developmental regression Lethargy Hypotrichosis Lactic acidosis Metabolic acidosis Coma Abnormal cerebellum morphology Generalized myoclonic seizures Aciduria Tachypnea Hyperammonemia Recurrent skin infections Stridor Visual field defect Basal ganglia calcification Apnea Bronchitis Iris hypopigmentation Hyperventilation Diffuse cerebral atrophy Organic aciduria Seborrheic dermatitis Alcoholism Keratoconjunctivitis Recurrent fungal infections Diffuse cerebellar atrophy Laryngeal stridor Desquamation of skin soon after birth Metabolic ketoacidosis Perioral eczema Feeding difficulties in infancy Abnormality of the nervous system Weight loss Abnormal myocardium morphology Dyspnea Photophobia Cough Sepsis Sudden cardiac death Hepatitis Myocardial infarction Eosinophilia Nephritis Restrictive ventilatory defect Macule Corneal erosion Acute hepatic failure Steatorrhea Entropion Acidosis Excessive salivation Abnormality of the pleura Esophageal stricture Abnormality of the urethra Hypokalemic metabolic alkalosis Dyspareunia Generalized hypotonia Ataxia Muscle weakness Muscular hypotonia Spasticity Optic atrophy Hypertonia Recurrent infections Episodic abdominal pain Severe vision loss Glucose intolerance Peau d'orange High, narrow palate Mitral valve prolapse Blue sclerae Macular degeneration Cerebral hemorrhage Abnormality of the sternum Angina pectoris Arteriosclerosis Retinal hemorrhage Intermittent claudication Angioid streaks of the fundus Calcification of falx cerebri Medial calcification of large arteries Kyphosis Premature occlusive vascular stenosis Medial calcification of medium-sized arteries Yellow papule Peripheral neuropathy Glaucoma Camptodactyly Subcutaneous nodule Skin ulcer Hypercalcemia Increased antibody level in blood Abnormality of the ear Optic neuropathy Reduced visual acuity High palate Macular edema Pes planus Immunodeficiency Shock Encephalitis Recurrent mycobacterial infections Herpes simplex encephalitis Falls Pleural effusion Pericarditis Serositis Hypertelorism Strabismus Behavioral abnormality Aggressive behavior Scoliosis Joint laxity Intellectual disability, moderate Interphalangeal joint contracture of finger Adducted thumb Emotional lability Limited elbow extension Overweight Generalized joint laxity Mood swings Stuttering Hypersexuality Tryptophanuria Head-banging Abnormal cranial nerve morphology Synovitis Back pain Dementia Erythroderma Squamous cell carcinoma Basal cell carcinoma Striae distensae Respiratory distress Alopecia of scalp Osteosarcoma Poikiloderma Concave nasal ridge Lamellar cataract Acrokeratosis Areflexia Jaundice Telangiectasia Irritability Pallor Retinopathy Nausea Hepatic steatosis Abdominal distention Memory impairment Hypertriglyceridemia Atherosclerosis Hyperlipidemia Hypercholesterolemia EMG: myopathic abnormalities Melanoma Sparse scalp hair Cystoid macular edema Short stature Abducens palsy Flexion contracture of toe Granulomatosis Band keratopathy Posterior uveitis Iridocyclitis Iritis Large vessel vasculitis Panuveitis Tendonitis Intermittent generalized erythematous papular rash Nongranulomatous uveitis Neoplasm Cutaneous photosensitivity Feeding difficulties Abnormality of the dentition Prominent forehead Osteoporosis Hypogonadism Hyperkeratosis Osteopenia Carcinoma Postnatal growth retardation Sparse hair Leukemia Abnormality of skin pigmentation Hypopigmentation of the skin Decreased biotinidase activity



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Dementia, related diseases and genetic alterations Ventricular septal defect and Pectus excavatum, related diseases and genetic alterations Congestive heart failure and Paralysis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more