Autoimmunity, and Congenital cataract

Diseases related with Autoimmunity and Congenital cataract

In the following list you will find some of the most common rare diseases related to Autoimmunity and Congenital cataract that can help you solving undiagnosed cases.


Top matches:

Medium match CENANI-LENZ SYNDROME


Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

CENANI-LENZ SYNDROME Is also known as cenani-lenz syndactyly|cenani syndactyly|syndactyly type 7|syndactyly, type vii|cenani syndactylism

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CENANI-LENZ SYNDROME

Medium match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Low match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

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Other less relevant matches:

Low match X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME


The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families.

X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME Is also known as xq22.3 microdeletion syndrome|chromosome xq22.3 centromeric deletion syndrome|alport syndrome and diffuse leiomyomatosis|leiomyomatosis, esophageal and vulval, with nephropathy|ats-dl

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Cataract
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME

Low match TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3


Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. Patients with TTD have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008).For a discussion of genetic heterogeneity of TTD, see {601675}.

TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3 Is also known as ttda|trichothiodystrophy, complementation group a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Neoplasm
  • Cataract
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3

Low match MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME


SC4MOL deficiency represents an inborn error of cholesterol metabolism that is characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected patients. The associated features of immune dysregulation, skin disease, and growth delay can be at least partially corrected with cholesterol and statin supplements (He et al., 2014).

MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME Is also known as smo deficiency|sterol-c4-methyl oxidase deficiency|sc4mol deficiency

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME

Low match CATARACT 39, MULTIPLE TYPES; CTRCT39


Mutations in the CRYGB gene have been found to cause multiple types of cataract, which have been described as lamellar, anterior polar, and complete.

Related symptoms:

  • Cataract
  • Congenital cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 39, MULTIPLE TYPES; CTRCT39

Low match CATARACT 18; CTRCT18


Mutations in the FYCO1 gene have been identified in families with autosomal recessive cataract described as congenital and congenital nuclear.The preferred title/symbol of this entry was formerly 'Cataract, Autosomal Recessive Congenital 2; CATC2.'

CATARACT 18; CTRCT18 Is also known as cataract, autosomal recessive congenital 2|catc2

Related symptoms:

  • Cataract
  • Congenital cataract


SOURCES: MESH OMIM MENDELIAN

More info about CATARACT 18; CTRCT18

Low match CATARACT 13 WITH ADULT I PHENOTYPE; CTRCT13


The i and I antigens of the I blood group system (OMIM ) are carbohydrate structures carried on glycolipids and glycoproteins and are characterized as straight or branched glycochains composed of repeating N-acetyllactosamine (LacNAc) units, respectively. Conversion of i antigen into an I-active structure requires the activity of the I-branching enzyme, beta-1,6-N-acetylglucosaminyltransferase (GCNT2 ), which adds the decisive GlcNAc-beta-1-6 branch onto the straight poly-LacNAc chains. Expression of the i and I antigens on red blood cells (RBCs) is reciprocal and developmentally regulated. Adult human RBCs predominantly express I antigen, whereas fetal and neonatal RBCs predominantly express i antigen. After birth, I antigen levels increase gradually as i antigen levels fall, with the normal Ii status of adult RBCs reached after about 13 to 20 months. Mutations that specifically affect 1 of the 3 variants produced by the GCNT2 gene cause the rare adult i phenotype (see {110800}), in which adult RBCs are rich in i antigen and contain low levels of I antigen. Mutations that eliminate all 3 GCNT2 variants cause the adult i phenotype with congenital cataract (review by Yu and Lin, 2011).

Related symptoms:

  • Cataract
  • Congenital cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 13 WITH ADULT I PHENOTYPE; CTRCT13

Low match CATARACT 25; CTRCT25


CATARACT 25; CTRCT25 Is also known as ccsso|cataract, central pouch-like, with sutural opacities|cataract, central saccular, with sutural opacities

Related symptoms:

  • Cataract
  • Congenital cataract


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CATARACT 25; CTRCT25

Top 5 symptoms//phenotypes associated to Autoimmunity and Congenital cataract

Symptoms // Phenotype % cases
Cataract Very Common - Between 80% and 100% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Ichthyosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Congenital cataract. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Hypothyroidism Microcephaly Failure to thrive

Rare Symptoms - Less than 30% cases


Sensorineural hearing impairment Depressivity Cognitive impairment Cerebellar atrophy Short neck Anemia Dementia Muscular hypotonia Dysphagia Seizures Growth delay Mental deterioration Anxiety Purpura Basal ganglia calcification Vitiligo Hypoparathyroidism Delusions Psoriasiform dermatitis Schizophrenia Seborrheic dermatitis Hallucinations Asthma Psychosis Amenorrhea Specific learning disability Psychotic episodes Dysmetria Anal atresia Abnormality of the pinna Vomiting Fever Protruding ear Cleft palate Renal agenesis Nephropathy Proteinuria Scoliosis Flexion contracture Ptosis Delayed puberty Constipation Abnormal facial shape Nystagmus Hypertelorism Dyspnea Retrognathia Delayed skeletal maturation Erythroderma Decreased nerve conduction velocity Cachexia Carious teeth Ischemic stroke Atrioventricular block Growth abnormality Chronic kidney disease Hypopigmented skin patches Easy fatigability Nausea and vomiting Hyperkinesis Hypercalciuria Malabsorption Goiter Mutism Ophthalmoplegia Muscle cramps Bilateral ptosis Mask-like facies Vestibular dysfunction Aphasia Bundle branch block Pruritus Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Bifid scrotum Hemiplegia Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Generalized tonic-clonic seizures Lethargy Personality changes Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Ragged-red muscle fibers Aortic aneurysm Arthrogryposis multiplex congenita Paresthesia Reduced tendon reflexes Generalized-onset seizure Coma Postural instability Hemiparesis Atrial fibrillation Ventricular hypertrophy Status epilepticus Pulmonary arterial hypertension Type II diabetes mellitus Nephrotic syndrome Bilateral sensorineural hearing impairment Abnormality of the cardiovascular system Hirsutism Pigmentary retinopathy Cerebral calcification Hip dysplasia Memory impairment Increased serum lactate Migraine Sensory impairment Sudden cardiac death Generalized myoclonic seizures Abnormal cerebellum morphology Polyneuropathy Polymicrogyria External ophthalmoplegia Truncal ataxia Pancreatitis Macular degeneration Exercise intolerance Confusion Vertigo Peripheral axonal neuropathy Type I diabetes mellitus Hypogonadotrophic hypogonadism Generalized hirsutism EMG abnormality Cardiac arrest Nausea Clonus Cerebral visual impairment Abnormality of retinal pigmentation Gingival overgrowth Anorexia Left ventricular hypertrophy Lactic acidosis Decreased body weight Hyperkalemia Involuntary movements Hypertrichosis Dysphasia Neonatal hypoglycemia Visual field defect Abnormal mitochondrial shape Stage 5 chronic kidney disease Cough Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Cochlear degeneration Skeletal muscle hypertrophy Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Tubulointerstitial abnormality Hematuria Wheezing Abnormal nerve conduction velocity Neoplasm of the skin Hypocholesterolemia Immune dysregulation Blepharitis Inflammatory abnormality of the skin Arthralgia Intellectual disability, mild Tiger tail banding Congenital nonbullous ichthyosiform erythroderma Freckling Decreased fertility Brittle hair Joint contracture of the hand Microscopic hematuria Telangiectasia Cutaneous photosensitivity Abnormality of skin pigmentation Neoplasm Tracheobronchial leiomyomatosis Anterior lenticonus Diffuse leiomyomatosis Diffuse glomerular basement membrane lamellation High-frequency sensorineural hearing impairment Lenticonus Thickening of the glomerular basement membrane Macroscopic hematuria Renal Fanconi syndrome Auditory hallucinations Prolonged QT interval Atopic dermatitis Facial diplegia Cardiorespiratory arrest Transient ischemic attack Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Heart block Xerostomia Neurological speech impairment Abnormality of visual evoked potentials Hashimoto thyroiditis Drowsiness Renal tubular dysfunction Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Rhabdomyolysis Hyperthyroidism Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Aortic dissection Tubulointerstitial nephritis Amaurosis fugax Hemianopia Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Ileus Visual hallucinations Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Stroke-like episode Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Cerebral ischemia Wolff-Parkinson-White syndrome Increased CSF lactate Dilated cardiomyopathy Rod-cone dystrophy Stroke Hernia Arthritis Conductive hearing impairment Umbilical hernia Hyperactivity Posteriorly rotated ears Inguinal hernia Abnormal heart morphology Patent ductus arteriosus Hypospadias Obesity Thrombocytopenia Blepharophimosis Absent speech Abnormality of cardiovascular system morphology Recurrent infections Immunodeficiency Behavioral abnormality Intellectual disability, severe Atrial septal defect Hydrocephalus Hypoplasia of the corpus callosum Ventricular septal defect Delayed speech and language development Aggressive behavior Generalized hypotonia Spina bifida Dysdiadochokinesis Cholelithiasis Nasal speech Abnormality of the hand Arnold-Chiari malformation Bicuspid aortic valve Holoprosencephaly Narrow palpebral fissure Multicystic kidney dysplasia Hypocalcemia Renal dysplasia Pulmonic stenosis Open mouth Primary amenorrhea Low posterior hairline Tetralogy of Fallot Peripheral demyelination Underdeveloped nasal alae Vesicoureteral reflux Chorea Bifid uvula Hemolytic anemia Bulbous nose High palate Synostosis of joints Apathy Prominent nasal bridge Abnormal form of the vertebral bodies Renal hypoplasia Abnormality of the ribs Convex nasal ridge Hypodontia High, narrow palate Micromelia Toe syndactyly Hip dislocation Finger syndactyly Short philtrum Short thumb Deeply set eye Proptosis Prominent forehead Syndactyly Malar flattening Short nose Frontal bossing Downslanted palpebral fissures Depressed nasal bridge Low-set ears Micrognathia Abnormality of the genital system Congenital hip dislocation Crossed fused renal ectopia Hypoplasia of the ulna Bilateral renal hypoplasia Foot oligodactyly Absent fingernail Absent toenail Synostosis of carpal bones Oligodactyly Congenital hypothyroidism Abnormality of digit Absent thumb Mixed hearing impairment Ectropion Hemivertebrae Elbow dislocation Radioulnar synostosis Systemic lupus erythematosus Deep philtrum Hypoplasia of the radius Laryngomalacia Abnormality of the metacarpal bones Renal hypoplasia/aplasia Abnormal dermatoglyphics Abnormality of dental enamel Narrow palate Rheumatoid arthritis Obsessive-compulsive behavior Attention deficit hyperactivity disorder Diarrhea Visual loss Encephalopathy Cerebral atrophy Headache Renal insufficiency Kyphosis Dystonia Hypertonia Abnormality of the dentition Congestive heart failure Myopathy Areflexia Blindness Cardiomyopathy Respiratory distress Respiratory insufficiency Ventriculomegaly Fatigue Gait disturbance Tremor Optic atrophy Skeletal muscle atrophy Dysarthria Arrhythmia Hyporeflexia Hepatomegaly Jaundice Nyctalopia Abnormality of the liver Erythema Developmental regression Feeding difficulties in infancy Apnea Hypertrophic cardiomyopathy Myalgia EEG abnormality Photophobia Gastroesophageal reflux Elevated serum creatine phosphokinase Acidosis Autism Weight loss Gait ataxia Cerebral cortical atrophy Abdominal pain Diabetes mellitus Hypogonadism Osteoporosis Myoclonus Cerebellar hypoplasia Hyperreflexia Peripheral neuropathy Unilateral renal agenesis Hearing abnormality Graves disease Aplasia of the uterus Juvenile rheumatoid arthritis Pulmonary artery atresia Abnormality of the endocrine system Echolalia Myelomeningocele Truncus arteriosus Pierre-Robin sequence Meningocele Bipolar affective disorder Perimembranous ventricular septal defect Posterior embryotoxon Anal stenosis Autoimmune thrombocytopenia Submucous cleft hard palate Axonal loss Autoimmune hemolytic anemia Abnormality of the ear Myopathic facies Inflammation of the large intestine Hypoplasia of the brainstem Acne Interrupted aortic arch Platybasia Hypertension Perineal fistula Motor delay Visual impairment Feeding difficulties Pain Muscle weakness Ataxia Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Vascular ring Mood swings Central nervous system degeneration Arteria lusoria Aplasia of the thymus Conotruncal defect Velopharyngeal insufficiency Giant platelets Retinal vascular tortuosity Paranoia Duodenal stenosis Impaired T cell function Right aortic arch Decreased LDL cholesterol concentration



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