Cataract, and Infertility

Diseases related with Cataract and Infertility

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


Top matches:

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46


Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46 Is also known as spg46

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46

Low match MYOTONIC DYSTROPHY 2; DM2


Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals with DM2 have muscle pain and stiffness, progressive muscle weakness, myotonia, male hypogonadism, cardiac arrhythmias, diabetes, and early cataracts. Other features may include cognitive dysfunction, hypersomnia, tremor, and hearing loss (summary by Heatwole et al., 2011).See also myotonic dystrophy-1 (DM1 ), caused by an expanded CTG repeat in the dystrophia myotonica protein kinase gene (DMPK ) on 19q13.Although originally reported as 2 disorders, myotonic dystrophy-2 and proximal myotonic myopathy are now referred to collectively as DM2 (Udd et al., 2003).

MYOTONIC DYSTROPHY 2; DM2 Is also known as promm|proximal myotonic myopathy|dystrophia myotonica 2|myotonic myopathy, proximal|ricker syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 2; DM2

Low match AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME


Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. Patients with autosomal dominant KCS type 2 have normal intelligence (Kenny and Linarelli, 1966; Caffey, 1967; summary by Isojima et al., 2014).See KCS1 (OMIM ) for a discussion of an autosomal recessive form of Kenny-Caffey syndrome.

AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME Is also known as kenny syndrome|dwarfism, cortical thickening of tubular bones, and transient hypocalcemia

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME

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Other less relevant matches:

Low match CUSHING DISEASE


Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.

CUSHING DISEASE Is also known as corticotroph pituitary adenoma|pituitary-dependent cushing syndrome|pituitary corticotroph micro-adenoma

Related symptoms:

  • Failure to thrive
  • Cataract
  • Visual impairment
  • Hypertension
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about CUSHING DISEASE

Low match ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1


ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see {610489}), which is often a component of the Carney complex (OMIM ) and associated with mutations in the PRKAR1A gene (OMIM ) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).See also ACTH-independent Cushing syndrome (OMIM ) due to somatic mutation in the PRKACA gene (OMIM ).Cushing 'disease' (OMIM ) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal HyperplasiaAIMAH2 (OMIM ) is caused by germline mutation of 1 allele of the ARMC5 gene (OMIM ) coupled with a somatic mutation in the other allele.

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 Is also known as acth-independent macronodular adrenocortical hyperplasia|cushing syndrome, adrenal, due to aimah|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Cataract
  • Visual impairment


SOURCES: OMIM MESH MENDELIAN

More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1

Low match FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE


Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy (see this term) characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.

FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE Is also known as fpl2|lipoatrophic diabetes|lipodystrophy, reverse partial|fpld2|familial partial lipodystrophy type 2|lipodystrophy, familial, of limbs and lower trunk|dunnigan syndrome|lipodystrophy, familial partial, dunnigan type

Related symptoms:

  • Short stature
  • Micrognathia
  • Cataract
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE

Low match HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER


Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

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 CLASSIC GALACTOSEMIA


Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.

CLASSIC GALACTOSEMIA Is also known as galt deficiency|galactose-1-phosphate uridyltransferase deficiency|galactosemia type 1

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Failure to thrive
  • Cataract
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC GALACTOSEMIA

Low match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Top 5 symptoms//phenotypes associated to Cataract and Infertility

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Diabetes mellitus Short stature Hypertension Headache Flexion contracture Abdominal pain Round face Seizures Skeletal muscle atrophy Depressivity Osteoporosis Congestive heart failure Myalgia Splenomegaly Global developmental delay Thin skin Lethargy Growth delay Hypertelorism Pain Postnatal growth retardation Bruising susceptibility Lipodystrophy Generalized hirsutism Edema Fatigue Mental deterioration Ataxia Cognitive impairment Tremor

Rare Symptoms - Less than 30% cases


Constipation Metrorrhagia Telangiectasia of the skin Leukocytosis Generalized hyperpigmentation Aseptic necrosis Bipolar affective disorder Adrenal hyperplasia Pituitary adenoma Onychomycosis Immunodeficiency Congenital cataract Spontaneous abortion Papule Truncal obesity Hypertrophic cardiomyopathy Dysphagia Pectus excavatum Dilatation Rod-cone dystrophy Obesity Hepatomegaly Micrognathia Hirsutism Myopia Abnormal facial shape Kyphosis Vomiting Hypogonadism Menorrhagia Fever Decreased testicular size Visual impairment Scoliosis Visual loss Nystagmus Abdominal distention Sepsis Anxiety Acne Sleep disturbance Feeding difficulties Recurrent fractures Microcephaly Psychosis Nephrolithiasis Abnormal bleeding Hearing impairment Venous thrombosis Premature ovarian insufficiency Muscle weakness Recurrent skin infections Ptosis Gait disturbance Dysarthria Hypokalemia Lower limb muscle weakness Pharyngitis Serositis Cutaneous photosensitivity Ichthyosis Blindness Abnormality of skin pigmentation Asthma Frontal bossing Generalized hypotonia Nyctalopia Increased IgA level Diarrhea Optic disc pallor Arthritis Pallor Erythema Urticaria Purpura Conjunctivitis Vasculitis Recurrent pneumonia Long eyelashes Nephrotic syndrome Eczema Arthralgia Dehydration Aciduria Gastrointestinal hemorrhage Migraine Limitation of joint mobility Retinal dystrophy Nausea Lymphadenopathy Vertigo Cough Hepatosplenomegaly Apathy Renal insufficiency Peritonitis Pneumonia Cervical lymphadenopathy Optic neuritis Neutrophilia Erysipelas Porokeratosis Neuritis Skin rash Chills Recurrent aphthous stomatitis Large forehead Intestinal obstruction Acrocyanosis Posterior subcapsular cataract Poor coordination Peripheral visual field loss Episodic fever Subcapsular cataract Amyloidosis Colitis Elevated erythrocyte sedimentation rate Hypermelanotic macule Hyperhidrosis Uveitis Abnormality of the ovary Telangiectasia Elevated alkaline phosphatase Abnormality of the vertebral column Male infertility Cystic hygroma Neurofibromas Abnormality of color vision Abnormality of the coagulation cascade Radial deviation of finger Cubitus valgus Myelodysplasia Patent foramen ovale Failure to thrive in infancy Pterygium Abnormality of blood and blood-forming tissues Poor suck Arnold-Chiari malformation Bicuspid aortic valve Azoospermia Plagiocephaly Lymphedema Amblyopia Left ventricular hypertrophy Clumsiness Primary amenorrhea Low posterior hairline Neuroblastoma Gonadal dysgenesis Coarctation of aorta Amegakaryocytic thrombocytopenia Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Reduced factor XII activity Superior pectus carinatum Hypoplastic aortic arch Arnold-Chiari type I malformation Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Multiple lentigines Schwannoma Synovitis Shield chest Restrictive cardiomyopathy Atrial flutter Nonimmune hydrops fetalis Drusen Malignant hyperthermia Ventricular hypertrophy Amenorrhea Joint contracture of the hand Speech apraxia Epicanthus Depressed nasal bridge High palate Low-set ears Cryptorchidism Sensorineural hearing impairment Strabismus Impairment of galactose metabolism Speech articulation difficulties Decreased fertility in females Labial pseudohypertrophy Hepatic failure Downslanted palpebral fissures Abnormality of movement Nausea and vomiting Hypoglycemia Jaundice Weight loss Tiger tail banding Congenital nonbullous ichthyosiform erythroderma Freckling Decreased fertility Erythroderma Brittle hair Neoplasm of the skin Brachydactyly Ventricular septal defect Wide intermamillary distance Low-set, posteriorly rotated ears Webbed neck Dental malocclusion Triangular face High, narrow palate Facial asymmetry Pulmonic stenosis Hypotrichosis Leukemia Broad forehead Abnormal cardiac septum morphology Sparse hair Kyphoscoliosis Short neck Gastroesophageal reflux Polyhydramnios Proptosis Posteriorly rotated ears Abnormal heart morphology Patent ductus arteriosus Clinodactyly Hernia Thrombocytopenia Abnormality of cardiovascular system morphology Intellectual disability, mild Atrial septal defect Increased intramuscular fat Polycystic ovaries Myelin tomacula Increased variability in muscle fiber diameter Arteriosclerosis Neck flexor weakness IgM deficiency Elevated circulating follicle stimulating hormone level Male hypogonadism Oligospermia IgG deficiency Neurofibrillary tangles Epiphora Type 2 muscle fiber atrophy Myotonia Leukoencephalopathy Hypercholesterolemia Progressive muscle weakness Palpitations Decreased antibody level in blood Sudden cardiac death Tachycardia Confusion Hypersomnia Frontal balding Dilated cardiomyopathy Small for gestational age Delayed cranial suture closure High pitched voice Hypocalcemia Increased bone mineral density Small nail High myopia Neutropenia Carious teeth Hypermetropia Abnormality of the liver Diffuse leukoencephalopathy Prominent forehead Severe short stature Delayed skeletal maturation Microphthalmia Macrocephaly Intrauterine growth retardation Anemia Iridescent posterior subcapsular cataract Insulin insensitivity Limb muscle weakness Muscular dystrophy Basal ganglia calcification Difficulty walking Broad-based gait Urinary incontinence Abnormal cerebellum morphology Peripheral axonal neuropathy Dysmetria Paraplegia Abnormality of the cerebral white matter Spastic paraplegia Abnormal pyramidal sign Cerebral cortical atrophy Spastic gait Dementia Pes cavus Babinski sign Cerebral atrophy Cerebellar atrophy Hypoplasia of the corpus callosum Hyperreflexia Peripheral neuropathy Spasticity Lower limb spasticity Truncal ataxia Distal muscle weakness Knee clonus Proximal muscle weakness Elevated serum creatine phosphokinase Arrhythmia Sperm head anomaly Abnormal tendon morphology Upper limb dysmetria Abnormal sperm morphology Jerky ocular pursuit movements Impaired vibration sensation at ankles Reduced sperm motility Impaired vibratory sensation Limb dysmetria Upper limb spasticity Spastic dysarthria Corpus callosum atrophy Head tremor Impaired vibration sensation in the lower limbs Progressive spastic paraplegia Ankle clonus Brisk reflexes High hypermetropia Proportionate short stature Enlarged peripheral nerve Lipoatrophy Osteolytic defects of the phalanges of the hand Maternal diabetes Abnormality of lipid metabolism Insulin-resistant diabetes mellitus Short clavicles Hyperuricemia Secondary amenorrhea Glomerulopathy Aplasia/Hypoplasia of the skin Cellulitis Prominent superficial veins Reduced subcutaneous adipose tissue Coronary artery atherosclerosis Skeletal muscle hypertrophy Hyperglycemia Hyperinsulinemia Cranial nerve paralysis Hyperlipidemia Atherosclerosis Acanthosis nigricans Peripheral arterial stenosis Angina pectoris Abnormality of the nail Eclampsia Loss of truncal subcutaneous adipose tissue Sunken cheeks Increased facial adipose tissue Abnormality of complement system Adipose tissue loss Osteopoikilosis Increased intraabdominal fat Abnormality of skeletal muscle fiber size Increased adipose tissue around the neck Congenital generalized lipodystrophy Xanthomatosis Dysmenorrhea Loss of subcutaneous adipose tissue in limbs Absence of subcutaneous fat Generalized lipodystrophy Abnormality of the menstrual cycle Acute pancreatitis Hyperlipoproteinemia Advanced eruption of teeth Decreased HDL cholesterol concentration Pancreatitis Insulin resistance Papilledema Congenital hypoparathyroidism Abnormality of the medullary cavity of the long bones Abnormal circulating follicle-stimulating hormone level Transient hypophosphatemia Retinal calcification Calvarial osteosclerosis Stenosis of the medullary cavity of the long bones Thin long bone diaphyses Cortical thickening of long bone diaphyses Postnatal macrocephaly Thickened cortex of long bones Hypotension Hypocalcemic tetany Hypocalcemic seizures Persistence of primary teeth Bilateral microphthalmos Delayed closure of the anterior fontanelle Tetany Decreased skull ossification Hyperphosphatemia Hypoparathyroidism Osteopenia Memory impairment Myocardial infarction Dorsocervical fat pad Hypertriglyceridemia Epidermal acanthosis Hepatic steatosis Thin vermilion border Narrow chest High forehead Abnormality of the skeletal system Primary hypercortisolism Macronodular adrenal hyperplasia Moon facies Increased body weight Mood changes Decreased circulating ACTH level Abdominal obesity Neoplasm of the endocrine system Increased circulating cortisol level Subarachnoid hemorrhage Striae distensae Orthostatic hypotension Agitation Postductal coarctation of the aorta



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