Cryptorchidism, and Congenital cataract

Diseases related with Cryptorchidism and Congenital cataract

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


Top matches:

High match MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3


MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3 Is also known as microphthalmia, colobomatous, isolated 3

Related symptoms:

  • Cataract
  • Cryptorchidism
  • Microphthalmia
  • Coloboma
  • Congenital cataract


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3

High match PORENCEPHALY-MICROCEPHALY-BILATERAL CONGENITAL CATARACT SYNDROME


Porencephaly-microcephaly-bilateral congenital cataract syndrome is a rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cataract
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORENCEPHALY-MICROCEPHALY-BILATERAL CONGENITAL CATARACT SYNDROME

High match WARBURG MICRO SYNDROME 2; WARBM2


WARBURG MICRO SYNDROME 2; WARBM2 Is also known as micro syndrome 2

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Cataract
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 2; WARBM2

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Other less relevant matches:

High 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

High match HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC


HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hhcs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC

High match SPONDYLO-OCULAR SYNDROME


Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLO-OCULAR SYNDROME

High match MICRO SYNDROME


Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.

MICRO SYNDROME Is also known as warbm|warburg micro syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICRO SYNDROME

High match WALKER-WARBURG SYNDROME


Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

High match CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1


Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010). Genetic Heterogeneity of Cerebrooculofacioskeletal SyndromeSee also COFS2 (OMIM ), caused by mutation in the ERCC2 gene (OMIM ); COFS3 (OMIM ), caused by mutation in the ERCC5 gene (OMIM ); and COFS4 (OMIM ), caused by mutation in the ERCC1 gene (OMIM ).

CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 Is also known as cofs syndrome|cofs|pena-shokeir syndrome, type ii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

High match WARBURG MICRO SYNDROME 1; WARBM1


Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010). Genetic Heterogeneity of Warburg Micro SyndromeWarburg Micro syndrome-2 (WARBM2 ) is caused by mutation in the RAB3GAP2 gene (OMIM ) on chromosome 1q41. WARBM3 (OMIM ) is caused by mutation in the RAB18 gene (OMIM ) on chromosome 10p12. WARBM4 (OMIM ) is caused by mutation in the TBC1D20 gene (OMIM ) on chromosome 20p13.See also Martsolf syndrome (OMIM ), a clinically overlapping but milder autosomal recessive disorder caused by autosomal recessive mutation in the RAB3GAP2 gene.Handley et al. (2013) provided an overview of the disease variants identified in the RAB3GAP1, RAB3GAP2, and RAB18 genes, noting that a total of 144 families with WARBM and 9 families with Martsolf syndrome had been studied. Mutations were identified in RAB3GAP1 in 41% of cases, in RAB3GAP2 in 7% of cases, and in RAB18 in 5% of cases. Although RAB18 had not been linked to RAB3 pathways, Handley et al. (2013) stated that mutations in all 3 genes cause an indistinguishable phenotype, making it likely that there is some functional overlap.

WARBURG MICRO SYNDROME 1; WARBM1 Is also known as micro syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 1; WARBM1

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

Symptoms // Phenotype % cases
Cataract Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Microphthalmia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Flexion contracture

Uncommon Symptoms - Between 30% and 50% cases


Microcornea Muscular hypotonia Macrotia Intellectual disability, severe Hypoplasia of the corpus callosum Micrognathia Short stature Postnatal microcephaly Polymicrogyria Muscular hypotonia of the trunk Optic atrophy Visual impairment Hyperreflexia Spasticity Ventriculomegaly Cerebellar hypoplasia Long philtrum Nystagmus Growth delay Retinal detachment Hypertonia Osteoporosis Posteriorly rotated ears Agenesis of corpus callosum Deeply set eye Abnormal facial shape Muscle weakness Hypoplasia of penis Intrauterine growth retardation Coloboma Hearing impairment Hypertelorism Myopia Kyphosis Glaucoma Severe global developmental delay Micropenis Spastic diplegia Wide nasal bridge Brachycephaly Pachygyria

Rare Symptoms - Less than 30% cases


Hydronephrosis Sensorineural hearing impairment Cortical dysplasia Convex nasal ridge Webbed neck Anal atresia Low-set, posteriorly rotated ears Joint stiffness Short neck Congenital muscular dystrophy Intellectual disability, profound Muscular dystrophy Corneal opacity Retinal coloboma Lissencephaly Failure to thrive Low-set ears Narrow mouth Kyphoscoliosis Cerebral visual impairment Thin vermilion border Hyperextensible skin High palate Cerebellar atrophy Hypogonadism Delayed myelination Cerebellar vermis hypoplasia Hirsutism Arthrogryposis multiplex congenita Cerebral cortical atrophy Tetraplegia Ptosis Cleft palate Short nose Dilatation Cerebral atrophy Anemia Strabismus Clinodactyly of the 5th finger Overlapping toe Low anterior hairline Prominent nasal bridge Scrotal hypoplasia Abnormality of the cerebral white matter Cerebral calcification Cerebellar dysplasia Retinal dysplasia Microtia Abnormal cortical gyration Abnormality of the optic nerve Buphthalmos Aqueductal stenosis Peters anomaly Muscle fiber splitting Type II lissencephaly Megalocornea Cerebellar cyst Agyria Retinopathy Protruding ear Excessive daytime sleepiness Remnants of the hyaloid vascular system Posterior fossa cyst Meningoencephalocele Hypoglycosylation of alpha-dystroglycan Abnormal levels of creatine kinase in blood Bilateral cleft lip Bifid uvula Dandy-Walker malformation Polydactyly Specific learning disability Abnormality of the kidney Encephalocele Heterotopia Renal dysplasia Severe muscular hypotonia Retinal dystrophy Optic nerve hypoplasia Atresia of the external auditory canal Congenital contracture Anophthalmia Retinal atrophy Hypoplasia of the brainstem Iris coloboma Oral cleft Abnormality of neuronal migration Congenital glaucoma Metatarsus valgus Absent septum pellucidum Cleft upper lip Occipital encephalocele Submucous cleft hard palate Abnormality of the cerebellar vermis Macrogyria Severe hydrocephalus Hypertrichosis Second metatarsal posteriorly placed Motor delay Epicanthus Severe short stature Upslanted palpebral fissure Retrognathia Neonatal hypotonia Joint hypermobility Brain atrophy Short palpebral fissure Tetraparesis Progressive muscle weakness Long ear Spastic tetraparesis Cerebral palsy Bilateral cryptorchidism Neurodevelopmental delay External genital hypoplasia Enlarged cisterna magna Abnormal pupil morphology Anteverted ears Hyperglycinuria Posterior uveitis Posterior synechiae of the anterior chamber Facial hypertrichosis Deep longitudinal plantar crease Miosis Proptosis Lens luxation Abnormal lactate dehydrogenase activity Chorioretinal dysplasia Hypoplastic male external genitalia Aplasia/Hypoplasia involving the skeletal musculature Thick cerebral cortex Abnormal aldolase level Edema Camptodactyly Blepharophimosis Hepatomegaly Neurodegeneration Gliosis Prominent nose Osteopetrosis Wide intermamillary distance Neuronal loss in central nervous system Peripheral demyelination Sloping forehead Cutaneous photosensitivity Insulin resistance Joint contracture of the hand Elbow flexion contracture Coxa valga Knee flexion contracture Rocker bottom foot Abnormality of the ear Cleft lip Blindness Progressive neurologic deterioration Platyspondyly Atrial septal defect Aggressive behavior Elevated hepatic transaminase Depressivity Visual loss Jaundice Osteopenia Pes planus Hyperlordosis Abnormal cardiac septum morphology Pectus carinatum Joint hyperflexibility Apnea Unsteady gait Clinodactyly Mitral valve prolapse Lumbar hyperlordosis Low posterior hairline Decreased body weight Amblyopia Accelerated skeletal maturation Increased susceptibility to fractures Hemiplegia Preauricular pit Ventricular septal defect Poor speech Subcapsular cataract Bilateral single transverse palmar creases Downslanted palpebral fissures Type I transferrin isoform profile Abnormality of cardiovascular system morphology Photophobia Skin dimples Hypoproteinemia Inverted nipples Infantile spasms Finger clinodactyly Progressive microcephaly High myopia Abnormality of the fingernails Single transverse palmar crease Polycystic ovaries Hypoplastic toenails Non-midline cleft lip Microcytic anemia Iron deficiency anemia Increased serum ferritin Abnormality of the elbow Ectopic anus Nuclear cataract Pulverulent cataract Exotropia Long fingers Iris hypopigmentation Elevated serum creatine phosphokinase Upper limb spasticity Abnormality of retinal pigmentation Postnatal growth retardation Generalized hirsutism Absent speech Aplasia/Hypoplasia of the corpus callosum Decreased muscle mass Cerebellar vermis atrophy Abnormality of visual evoked potentials Severe postnatal growth retardation Cystic renal dysplasia Abnormal localization of kidney Clitoral hypoplasia Decreased testicular size Hypoplastic labia minora Frontoparietal polymicrogyria Ectopic kidney Skeletal muscle atrophy Macrocephaly Frontal bossing Hydrocephalus Reduced antithrombin III activity Myopathy Areflexia Hyporeflexia Spastic tetraplegia Abnormal cerebellum morphology Thoracic kyphosis Aplasia/Hypoplasia of the lens Posterior subcapsular cataract Abnormal eyebrow morphology Abnormality of the antihelix Facial hypotonia Vertebral compression fractures Disproportionate short-trunk short stature Thickened helices Shield chest Unilateral cryptorchidism Long toe Abnormality of the intervertebral disk Dysplastic aortic valve Delayed puberty Left hemiplegia Scoliosis Respiratory insufficiency Tremor Peripheral neuropathy Anteverted nares Feeding difficulties Undetectable visual evoked potentials Asymmetry of the ears Hypoplastic labia majora Global brain atrophy Short philtrum Microphakia



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