Cataract, and Hernia

Diseases related with Cataract and Hernia

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


Top matches:

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

Low match FAMILIAL ABDOMINAL AORTIC ANEURYSM


Abdominal aortic aneurysm is a multifactorial disorder with multiple genetic and environmental risk factors. The disorder may occur as part of a heritable syndrome or in isolation (summary by Kuivaniemi et al., 2003). Genetic Heterogeneity of Abdominal Aortic AneurysmMapped loci for abdominal aortic aneurysm include AAA1 on chromosome 19q13; AAA2 (OMIM ) on chromosome 4q31; AAA3 (OMIM ) on chromosome 9p21; and AAA4 (OMIM ) on chromosome 12q13.

FAMILIAL ABDOMINAL AORTIC ANEURYSM Is also known as aneurysm, abdominal aortic|aaa|abdominal aortic aneurysm

Related symptoms:

  • Pain
  • Cataract
  • Hypertension
  • Vomiting
  • Dilatation


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL ABDOMINAL AORTIC ANEURYSM

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Other less relevant matches:

Low match HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME


This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.

HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME Is also known as bosma arhinia-microphthalmia syndrome|bosma-henkin-christiansen syndrome

Related symptoms:

  • Cleft palate
  • Cataract
  • Cryptorchidism
  • Blindness
  • Microphthalmia


SOURCES: ORPHANET MENDELIAN

More info about HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME

Low match SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5 Is also known as atd5|asphyxiating thoracic dystrophy 5

Related symptoms:

  • Growth delay
  • Cataract
  • Hypertension
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5

Low match CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME


ISQMR is a severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011).

CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME Is also known as congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME

Low match STEINERT MYOTONIC DYSTROPHY


Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.

STEINERT MYOTONIC DYSTROPHY Is also known as dm1|md1|myotonic dystrophy type 1|steinert disease

Related symptoms:

  • Strabismus
  • Muscular hypotonia
  • Cataract
  • Cryptorchidism
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about STEINERT MYOTONIC DYSTROPHY

Low match ANTERIOR SEGMENT DYSGENESIS 1; ASGD1


Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see {106210}), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002).Some patients with ASGD1 have been reported with the Peters anomaly subtype.In its simplist form, Peters anomaly involves a central corneal opacity, but it may also involve adherent iris strands. Some patients have keratolenticular content or cataract. The underlying defects in this form of congenital corneal opacity reside in the posterior stroma, Descemet membrane, and corneal endothelium. The disorder results from abnormal migration or function of neural crest cells and may include abnormalities of other anterior segment structures, such as the lens and iris (summary by Withers et al., 1999).

ANTERIOR SEGMENT DYSGENESIS 1; ASGD1 Is also known as anterior segment mesenchymal dysgenesis|asmd|anterior segment ocular dysgenesis|asod

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ANTERIOR SEGMENT DYSGENESIS 1; ASGD1

Low match SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A


Autosomal dominant spastic paraplegia-9A is a neurologic disorder characterized by onset of slowly progressive spasticity mainly affecting the lower limbs. The age at onset usually ranges from adolescence to adulthood, and patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency (summary by Coutelier et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (OMIM ).

SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A Is also known as spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux|cataracts with motor neuronopathy, short stature, and skeletal abnormalities

Related symptoms:

  • Global developmental delay
  • Short stature
  • Nystagmus
  • Muscle weakness
  • Cataract


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A

Low match DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE


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

Top 5 symptoms//phenotypes associated to Cataract and Hernia

Symptoms // Phenotype % cases
Myopia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Inguinal hernia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Renal hypoplasia Photophobia Stage 5 chronic kidney disease Hypertonia Proteinuria Respiratory distress Microcephaly Growth delay Strabismus Intellectual disability, severe Hypoplasia of penis Short stature Skeletal muscle atrophy Nystagmus Abnormality of the dentition Umbilical hernia Hypertension Vomiting Sensorineural hearing impairment Abnormality of the sense of smell Ectopia lentis Axenfeld anomaly Aphakia Optic nerve hypoplasia Macular hypopigmentation Aplasia/Hypoplasia of the corpus callosum Iris hypopigmentation Muscle weakness Spasticity Hyperreflexia Opacification of the corneal stroma Abnormality of the genital system Dysarthria Gait disturbance Abnormality of the skeletal system Peripheral neuropathy Polycoria Hypoplasia of the iris Corneal neovascularization Increased intraocular pressure Posterior embryotoxon Sclerocornea Corneal erosion Ectopia pupillae Aniridia Optic nerve coloboma Abnormality of the optic nerve Keratoconjunctivitis sicca Rieger anomaly Anterior segment developmental abnormality Keratoconus Peters anomaly Keratitis Abnormality of the hypothalamus-pituitary axis Anterior synechiae of the anterior chamber Macular hypoplasia Posterior polar cataract Aplasia/Hypoplasia of the iris Clinodactyly Lower limb muscle weakness Delayed skeletal maturation Everted lower lip vermilion Low-set ears Epicanthus Wide nasal bridge Renal insufficiency Malar flattening Micropenis Hypothyroidism Telecanthus Intellectual disability, moderate Wide mouth Blepharophimosis Dental malocclusion Micrognathia Wide intermamillary distance Pancytopenia Thick lower lip vermilion Renal dysplasia Telangiectasia Abnormal dermatoglyphics Bifid scrotum Congenital sensorineural hearing impairment Telangiectasia of the skin Hypoplastic nipples Aplasia/Hypoplasia of the nipples Abnormal facial shape Hypertelorism Babinski sign Abnormality of pelvic girdle bone morphology Pes cavus Gastroesophageal reflux Spastic paraplegia Paraplegia Microcornea Abnormal cerebellum morphology Urinary incontinence Specific learning disability Lower limb spasticity Paraparesis Spastic paraparesis Impaired vibratory sensation Hearing impairment Urinary urgency Generalized amyotrophy Progressive spasticity Hiatus hernia Short 5th finger Motor polyneuropathy Carpal bone hypoplasia Abnormal upper motor neuron morphology Shallow acetabular fossae Chorioretinal dystrophy Dysfunction of lateral corticospinal tracts Short palpebral fissure First degree atrioventricular block Congenital cataract Brachydactyly Submucous cleft hard palate Misalignment of teeth Hyposmia Abdominal wall muscle weakness Failure of eruption of permanent teeth Single naris Absent nares Abnormality of the midface Hypoplasia of the olfactory bulb Respiratory insufficiency Anophthalmia Polydactyly Thin upper lip vermilion Cleft lip Respiratory tract infection Narrow chest Oral cleft Short foot Full cheeks Limb undergrowth External genital hypoplasia Anosmia Short ribs Aortic aneurysm Pain Dilatation Diabetes mellitus Nausea Tachycardia Abnormality of the cardiovascular system Myocardial infarction Atherosclerosis Shock Peripheral arterial stenosis Gynecomastia Thoracic aortic aneurysm Abdominal aortic aneurysm Cleft palate Blindness Microphthalmia Visual loss Hypogonadism Iris coloboma Bifid uvula Amblyopia Rhizomelia Metaphyseal widening Corneal opacity Non-midline cleft lip Muscular hypotonia Hydrocephalus Abnormality of cardiovascular system morphology Facial palsy Hip dislocation EMG abnormality Intellectual disability, progressive Myotonia Mask-like facies Abnormality of the endocrine system Abnormality of visual evoked potentials Testicular atrophy Abnormality of the upper urinary tract Abnormal hair quantity Abnormality of metabolism/homeostasis Hernia of the abdominal wall Ptosis Visual impairment Atrial septal defect Behavioral abnormality Glaucoma Drusen Scaling skin Glomerulonephritis Pallor Elevated serum creatinine Thoracic dysplasia Pes valgus Short iliac bones Chronic tubulointerstitial nephritis Seizures Generalized hypotonia Flexion contracture Hyperkeratosis Erythema Aspiration Dry skin Ichthyosis Tetraplegia Generalized myoclonic seizures Asthma Brain atrophy Delayed myelination Spastic tetraplegia High myopia Intellectual disability, profound Chordee



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Clinodactyly, related diseases and genetic alterations Hyperreflexia and Distal muscle weakness, related diseases and genetic alterations Depressed nasal bridge and Thin skin, related diseases and genetic alterations Cleft palate and Gait disturbance, related diseases and genetic alterations Muscle weakness and Genu valgum, related diseases and genetic alterations

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