Cataract, and Hypothyroidism

Diseases related with Cataract and Hypothyroidism

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

Top matches:

Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE Is also known as martin-probst deafness-mental retardation syndrome|x-linked deafness-intellectual disability syndrome syndrome|martin-probst syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 5; CWS5

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 6; CWS6

Other less relevant matches:

3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections (summary by Wortmann et al., 2015 and Saunders et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (OMIM ).

3-METHYLGLUTACONIC ACIDURIA TYPE 7 Is also known as 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome|mga7|mgca7|3-methylglutaconic aciduria, type vii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 7

Low match ALG8-CDG

ALG8-CDG is a form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis; see this term), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

ALG8-CDG Is also known as cdg-ih|congenital disorder of glycosylation type 1h|cdgih|carbohydrate deficient glycoprotein syndrome type ih|cdg1h|cdg syndrome type ih|cdg ih|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type ih

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG8-CDG

Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.

SYNDROMIC MICROPHTHALMIA TYPE 5 Is also known as mcops5|syndromic microphthalmia/anophthalmia due to otx2 mutation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MICROPHTHALMIA TYPE 5

Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (OMIM ), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA Is also known as osteolysis, hereditary multicentric|torg syndrome|al-aqeel sewairi syndrome|nodulosis-arthropathy-osteolysis syndrome|torg-winchester syndrome, formerly|nao syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).PEO caused by mutations in the POLG gene (OMIM ) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (OMIM ) or C10ORF2 genes (Lamantea et al., 2002).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3 Is also known as progressive external ophthalmoplegia, autosomal dominant 3

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3

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

Top 5 symptoms//phenotypes associated to Cataract and Hypothyroidism

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Myopia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Cataract and Hypothyroidism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Short stature Hypoplasia of the maxilla Scoliosis Global developmental delay Hypertelorism Generalized hypotonia Growth delay Downslanted palpebral fissures Cryptorchidism Sensorineural hearing impairment Kyphosis Narrow mouth Microcephaly Ptosis Micropenis Nystagmus Brachydactyly

Rare Symptoms - Less than 30% cases

Hamartomatous polyposis Angioid streaks of the fundus Ovarian cyst Thyroid adenoma Subcutaneous lipoma Varicocele Progressive macrocephaly Furrowed tongue Hydrocele testis Transitional cell carcinoma of the bladder Fibroadenoma of the breast Colonic diverticula Wide nasal bridge Epicanthus Ataxia Brain atrophy Respiratory insufficiency Talipes equinovarus Anemia Failure to thrive Short nose Syndactyly Brachycephaly Increased serum lactate Gliosis Flexion contracture Short philtrum Prominent nasal bridge Rigidity Abnormality of the genital system Cerebral atrophy Cardiomyopathy Dysphagia Skin tags Meningioma Cleft palate Hashimoto thyroiditis Low-set ears Frontal bossing Gait disturbance Diabetes mellitus Proptosis Renal hypoplasia Thyroiditis Telecanthus Abnormal dermatoglyphics Malar flattening Abnormality of the thyroid gland Intellectual disability, severe Gynecomastia Hyperthyroidism Goiter Intellectual disability, mild Pectus excavatum Abnormality of the cardiovascular system Palmoplantar hyperkeratosis Intention tremor High palate Breast carcinoma Peripheral neuropathy Visual impairment Hypertrichosis Cognitive impairment Pain Muscle weakness Sclerotic cranial sutures Skeletal muscle atrophy Distal tapering of metatarsals Split hand Dysarthria Hyporeflexia Tremor Cerebral cortical atrophy Interphalangeal joint contracture of finger Lower limb muscle weakness Limb muscle weakness Ophthalmoplegia Severe global developmental delay Myalgia Proximal muscle weakness Hypogonadism Fatigue Dementia Elevated serum creatine phosphokinase Peripheral opacification of the cornea Areflexia Arrhythmia Depressivity Myopathy Thin metatarsal cortices Thickened skin Ankylosis of feet small joints Hypermelanotic macule Metaphyseal widening Generalized hypertrichosis Wrist flexion contracture Delayed closure of the anterior fontanelle Generalized osteoporosis Abnormality of the thorax Abnormality of the ear Broad metatarsal Antinuclear antibody positivity Narrow nasal bridge Arthropathy Hip contracture Ankle contracture Ankylosis Camptodactyly of toe Protrusio acetabuli Widened metacarpal shaft Metatarsal osteolysis Interphalangeal joint erosions Subcutaneous nodule Osteolysis involving tarsal bones Thin metacarpal cortices Decreased body weight Carpal osteolysis Metacarpal osteolysis Contractures of the large joints Gingival overgrowth Knee flexion contracture Osteolysis Severe generalized osteoporosis Finger swelling C1-C2 subluxation Vertebral compression fractures Sensory axonal neuropathy Paresthesia Convex nasal ridge Abnormality of dental enamel Narrow palate Hemivertebrae Congenital hip dislocation Short thumb Abnormal form of the vertebral bodies Abnormality of the ribs Renal agenesis Abnormality of the metacarpal bones Hypodontia High, narrow palate Micromelia Toe syndactyly Congenital cataract Hip dislocation Finger syndactyly Renal hypoplasia/aplasia Laryngomalacia Deeply set eye Congenital hypothyroidism Crossed fused renal ectopia Bilateral renal hypoplasia Foot oligodactyly Absent fingernail Absent toenail Synostosis of carpal bones Oligodactyly Abnormality of digit Hypoplasia of the radius Absent thumb Mixed hearing impairment Hypoplasia of the ulna Ectropion Elbow dislocation Radioulnar synostosis Systemic lupus erythematosus Deep philtrum Protruding ear Retrognathia Sensory neuropathy Left ventricular hypertrophy Ragged-red muscle fibers Progressive hearing impairment External ophthalmoplegia Exercise intolerance Bradycardia Diplopia Progressive muscle weakness Status epilepticus Mutism Ventricular hypertrophy Bradykinesia Amenorrhea Memory impairment Migraine Parkinsonism Generalized muscle weakness Muscle cramps EMG: myopathic abnormalities Dysphonia Prominent forehead Progressive external ophthalmoplegia Depressed nasal bridge Subsarcolemmal accumulations of abnormally shaped mitochondria Multiple mitochondrial DNA deletions Cytochrome C oxidase-negative muscle fibers Sensory ataxia Limb-girdle muscle weakness Mitochondrial myopathy Bipolar affective disorder Bilateral ptosis Insomnia Resting tremor Coronary artery atherosclerosis Small hand Ventricular fibrillation Ophthalmoparesis Apathy Premature ovarian insufficiency Delayed eruption of teeth Autistic behavior Hirsutism Myeloid leukemia 3-Methylglutaconic aciduria Dysgraphia Upper motor neuron dysfunction Dyslexia Progressive encephalopathy Acute myeloid leukemia Opisthotonus Hepatomegaly Myelodysplasia Choreoathetosis Progressive neurologic deterioration Abnormality of extrapyramidal motor function Neuronal loss in central nervous system Aciduria Neutropenia Congenital neutropenia Intrauterine growth retardation Leukemia Abnormal cardiac septum morphology Large fontanelles Cholestasis Decreased fetal movement Ascites Pulmonary hypoplasia Hepatic failure Camptodactyly Ventricular septal defect Dyspnea Patent ductus arteriosus Thrombocytopenia Long philtrum Diarrhea Vomiting Short neck Abnormality of movement Attention deficit hyperactivity disorder Decreased liver function Stage 5 chronic kidney disease Thick lower lip vermilion Pancytopenia Hypoplasia of penis Wide intermamillary distance Dental malocclusion Everted lower lip vermilion Blepharophimosis Telangiectasia Wide mouth Intellectual disability, moderate Proteinuria Umbilical hernia Hernia Renal insufficiency Abnormality of the dentition Renal dysplasia Bifid scrotum Abnormal pyramidal sign Recurrent infections Developmental regression Neonatal hypotonia Respiratory failure Hyperactivity Myoclonus Encephalopathy Dystonia Congenital sensorineural hearing impairment Cerebellar atrophy Feeding difficulties Spasticity Chordee Aplasia/Hypoplasia of the nipples Hypoplastic nipples Telangiectasia of the skin Lymphedema Abnormal intestine morphology Bulbous nose Underdeveloped nasal alae Aniridia Self-injurious behavior Nephroblastoma Sparse eyebrow Cutaneous syndactyly Wormian bones Prominent nose Exostoses Broad nasal tip Single transverse palmar crease Downturned corners of mouth Delayed puberty Broad forehead High forehead Autism Turricephaly Depressed nasal tip Behavioral abnormality Kyphoscoliosis Corneal opacity Arthritis Pes planus Arthralgia Coarse facial features Osteopenia Osteoporosis Decreased skull ossification Pes cavus Cutaneous syndactyly between fingers 2 and 5 Multiple exostoses Parietal foramina Congenital ptosis Craniofacial dysostosis Sparse lateral eyebrow Obesity Hypertension Tachypnea Posteriorly rotated ears Astigmatism Retinopathy Coloboma Scarring Joint laxity Photophobia Agenesis of corpus callosum Microcornea Microphthalmia Respiratory distress Abnormal isoelectric focusing of serum transferrin Primary hypothyroidism Abnormality of the renal tubule Protein-losing enteropathy Hypoalbuminemia Retinal dystrophy Pigmentary retinopathy Muscular hypotonia Central hypothyroidism Strabismus Myopic astigmatism Aglossia Proboscis Macular scar Mandibular aplasia Ectopic posterior pituitary Retinal dysplasia Microretrognathia Hypoplasia of the fovea Microglossia Posterior embryotoxon Short middle phalanx of finger Anophthalmia Optic nerve hypoplasia Arnold-Chiari malformation Synostosis of joints


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