Cataract, and Apnea

Diseases related with Cataract and Apnea

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


Top matches:

Low match AMYOTROPHIC LATERAL SCLEROSIS


Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.

AMYOTROPHIC LATERAL SCLEROSIS Is also known as als|amyotrophic lateral sclerosis 1, autosomal dominant|fals|lou gehrig disease|charcot disease|amyotrophic lateral sclerosis 1, familial

Related symptoms:

  • Microcephaly
  • Muscle weakness
  • Pain
  • Cataract
  • Spasticity


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS

Low match 2Q24 MICRODELETION SYNDROME


2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

Low match 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII; MGCA8


MGCA8 is an autosomal recessive metabolic disorder resulting in death in infancy. Features include hypotonia, abnormal movements, respiratory insufficiency with apneic episodes, and lack of developmental progress, often with seizures. Brain imaging is variable, but may show progressive cerebral atrophy. Laboratory studies show increased serum lactate and 3-methylglutaconic aciduria, suggesting a mitochondrial defect (summary by Mandel et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII; MGCA8

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Other less relevant matches:

Low match TREACHER COLLINS SYNDROME 1; TCS1


Treacher Collins syndrome is a disorder of craniofacial development. The features include antimongoloid slant of the eyes, coloboma of the lid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present (Dixon, 1996). Genetic Heterogeneity of Treacher Collins SyndromeTreacher Collins syndrome-2 (TCS2 ) is caused by mutation in the POLR1D gene (OMIM ) on chromosome 13q12. Treacher Collins syndrome-3 (TCS3 ) is caused by mutation in the POLR1C gene (OMIM ) on chromosome 6p21.

TREACHER COLLINS SYNDROME 1; TCS1 Is also known as mfd1|tcs|treacher collins syndrome|tcof|mandibulofacial dysostosis|treacher collins-franceschetti syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TREACHER COLLINS SYNDROME 1; TCS1

Low match DPAGT1-CDG


DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).

DPAGT1-CDG Is also known as cdg syndrome type ij|cdg-ij|congenital disorder of glycosylation type 1j|cdgij|cdg1j|carbohydrate deficient glycoprotein syndrome type ij|cdg ij|dolichyl-phosphate n-acetylgalactosamine phosphotransferase deficiency|congenital disorder of glycosylation ty

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPAGT1-CDG

Low match SCHINDLER DISEASE, TYPE I


Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (OMIM ), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).

SCHINDLER DISEASE, TYPE I Is also known as neuroaxonal dystrophy, schindler type|naga deficiency, type i|alpha-n-acetylgalactosaminidase deficiency, type i

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHINDLER DISEASE, TYPE I

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Low match CATARACT 36; CTRCT36


CATARACT 36; CTRCT36 Is also known as cataract, autosomal recessive congenital 4|catc4

Related symptoms:

  • Cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 36; CTRCT36

Low match HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME


Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.

HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME Is also known as hereditary hyperferritinemia with congenital cataracts|bonneau-beaumont syndrome|hhcs

Related symptoms:

  • Cataract
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Apnea

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Feeding difficulties Generalized hypotonia Cleft palate Sleep apnea Respiratory insufficiency Muscular hypotonia Hyperreflexia Micrognathia Cryptorchidism Strabismus Skeletal dysplasia Hypertelorism Growth delay Nystagmus

Rare Symptoms - Less than 30% cases


Short neck Downslanted palpebral fissures Microphthalmia Coloboma Failure to thrive Severe global developmental delay Congenital cataract Hypertonia Sensorineural hearing impairment Muscle weakness Cerebral atrophy Clonus Short stature Myopia Autism Rhizomelia Obstructive sleep apnea Respiratory distress Malar flattening Scoliosis Generalized myoclonic seizures Tremor Tetraplegia Pain Spasticity Myoclonus Respiratory failure Thick vermilion border Cerebral cortical atrophy Delayed pubic bone ossification Gastroesophageal reflux Osteopenia Retinoschisis Coarse facial features Hypertrophic cardiomyopathy Developmental regression Abnormality of the cerebral white matter Vertigo High myopia Generalized-onset seizure Cerebellar hypoplasia Cardiomegaly Lymphedema Cerebral visual impairment Limited hip movement Recurrent pneumonia Generalized amyotrophy Vegetative state Psychomotor deterioration Diffuse white matter abnormalities Cervical myelopathy Sciatica Blindness Constipation Finger clinodactyly Anemia Flexion contracture Clinodactyly Clinodactyly of the 5th finger Jaundice Elevated hepatic transaminase Aggressive behavior Delayed calcaneal ossification Poor speech Single transverse palmar crease Exotropia Progressive microcephaly Infantile spasms Angiokeratoma Inverted nipples Hypoproteinemia Skin dimples Limitation of knee mobility Type I transferrin isoform profile Reduced antithrombin III activity Neonatal short-trunk short stature Cognitive impairment Peripheral neuropathy Hepatomegaly Optic atrophy Intellectual disability, severe Vascular skin abnormality Flattened epiphysis Limb undergrowth Pulmonary hypoplasia Pectus carinatum Broad forehead Hip dislocation Platyspondyly Narrow chest Bowing of the legs Genu valgum Micromelia Paresthesia Spondyloepiphyseal dysplasia Retinal degeneration Flat face Back pain Respiratory tract infection Retinal detachment Genu varum Growth abnormality Coxa vara Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Abnormality of the metaphysis Abnormal lung morphology Osteoarthritis Lumbar hyperlordosis Limitation of joint mobility Waddling gait Autoimmunity Hyperlordosis Limited elbow movement Barrel-shaped chest Myelopathy Progressive psychomotor deterioration Angiokeratoma corporis diffusum Long-tract signs Oligosacchariduria Ovoid vertebral bodies Increased urinary O-linked sialopeptides Hypertension Gait disturbance Talipes equinovarus Congestive heart failure Kyphosis Vitreoretinopathy Arthritis Midface retrusion Hypoplasia of the odontoid process Hernia Disproportionate short stature Severe short stature Hypoplasia of the pharynx Polydactyly Progressive sensorineural hearing impairment Restrictive ventilatory defect Short thorax Vestibular dysfunction Glaucoma Abnormal parotid gland morphology Encephalocele Projection of scalp hair onto lateral cheek Small for gestational age Functional respiratory abnormality Motor neuron atrophy Laryngospasm Fatigable weakness of respiratory muscles Fatigable weakness of bulbar muscles Fatigable weakness of swallowing muscles Behavioral abnormality Neonatal hypotonia Low-set, posteriorly rotated ears Autistic behavior Camptodactyly of finger Short philtrum Toe syndactyly Degeneration of the lateral corticospinal tracts Arachnodactyly Interphalangeal joint contracture of finger Long fingers Central apnea Small face Hand clenching Abnormal oral frenulum morphology Abnormality iris morphology Bullet-shaped distal phalanx of the hallux Fever Ventriculomegaly Hypoplasia of the corpus callosum Pseudobulbar paralysis Degeneration of anterior horn cells Neutropenia Generalized muscle weakness Skeletal muscle atrophy Fatigue Dysphagia Depressivity Areflexia Dementia Dyspnea Anxiety Paralysis Nausea and vomiting Neurodegeneration Muscle cramps Parkinsonism Abnormal lower motor neuron morphology Gliosis Neuronal loss in central nervous system Peripheral demyelination Fasciculations Slurred speech Emotional lability Amyotrophic lateral sclerosis Agitation Bulbar palsy Muscle fibrillation Xerostomia Frontotemporal dementia Dystonia Increased serum lactate Widely spaced primary teeth Agenesis of permanent teeth Conductive hearing impairment Protruding ear Wide mouth Microtia Iris coloboma Dental malocclusion Choanal atresia Preauricular skin tag Sparse eyelashes Abnormality of the outer ear Reduced number of teeth Atresia of the external auditory canal Glossoptosis Abnormal heart morphology Choanal stenosis Abnormality of the nose Cleft soft palate Anotia Bilateral microphthalmos Lacrimal duct stenosis Accessory spleen Mandibulofacial dysostosis Upper eyelid coloboma Lower eyelid coloboma Sparse lower eyelashes Ectopic adrenal gland Narrow mouth Visual loss Aciduria Micropenis Abnormality of extrapyramidal motor function Postnatal microcephaly Bradycardia Poor suck Weak cry Increased CSF lactate 3-Methylglutaconic aciduria High palate Motor delay Intrauterine growth retardation Ventricular septal defect Hypospadias Gait ataxia Abnormality of cardiovascular system morphology Retrognathia Astigmatism Hypotelorism Coxa valga Accelerated skeletal maturation Scrotal hypoplasia Metaphyseal widening 2-3 toe syndactyly Scaphocephaly Broad femoral neck Ptosis Visual impairment Abnormality of the dentition Abnormality of metabolism/homeostasis



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