Cataract, and Azoospermia

Diseases related with Cataract and Azoospermia

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


Top matches:

Low match MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME


Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.

MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as syndromic moyamoya disease|moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism|chromosome xq28 deletion syndrome, 3.4-kb

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

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

Low match OCULOCEREBRORENAL SYNDROME OF LOWE


Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant 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 FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

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 JACOBSEN SYNDROME


Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Azoospermia

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypogonadism Seizures Thrombocytopenia Micrognathia Strabismus Cryptorchidism Growth delay Hypertelorism Abnormal facial shape Postnatal growth retardation Epicanthus Constipation Amblyopia Abnormal heart morphology Cognitive impairment Feeding difficulties Patent ductus arteriosus Abnormality of cardiovascular system morphology Hearing impairment Atrial septal defect Hip dislocation Bruising susceptibility Facial asymmetry Leukemia Low-set, posteriorly rotated ears Abnormal cardiac septum morphology Nystagmus Microcephaly Failure to thrive Ventriculomegaly Frontal bossing Low-set ears Cardiomyopathy Long philtrum Microphthalmia Scoliosis

Rare Symptoms - Less than 30% cases


Intrauterine growth retardation Visual impairment Horseshoe kidney Anemia Behavioral abnormality Generalized hypotonia Flat occiput Hypertrophic cardiomyopathy Bone marrow hypocellularity Abnormality of the dentition Attention deficit hyperactivity disorder Umbilical hernia Recurrent respiratory infections Hydrocephalus Thin upper lip vermilion Myelodysplasia Hypercholesterolemia Decreased antibody level in blood Upslanted palpebral fissure Inguinal hernia Abnormal bleeding Intellectual disability, moderate Abnormality of blood and blood-forming tissues Feeding difficulties in infancy Irritability Coarctation of aorta Webbed neck Renal insufficiency Gastroesophageal reflux Hypospadias Proptosis Infertility High palate Pain Sensorineural hearing impairment Short thumb Small for gestational age Finger syndactyly Dolichocephaly Toe syndactyly Anal atresia Brachydactyly Hypergonadotropic hypogonadism Dehydration Growth hormone deficiency Tachycardia Dilated cardiomyopathy Pancytopenia Deeply set eye Retrognathia Hypertension Depressed nasal bridge Neoplasm Ventricular septal defect Clinodactyly Headache Pes planus Intellectual disability, mild Diabetes mellitus Hernia Pectus excavatum Spina bifida Short neck Hypothyroidism Downslanted palpebral fissures Fever Clinodactyly of the 5th finger Lower limb muscle weakness Almond-shaped palpebral fissure Compensated hypothyroidism Dysphagia Absent testis Myalgia Confusion Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Mental deterioration Anemic pallor Proximal muscle weakness Aplasia/Hypoplasia of fingers Myopathy Arrhythmia Tremor Skeletal muscle atrophy Muscle weakness Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Complete duplication of thumb phalanx Abnormal carotid artery morphology Aplasia/Hypoplasia of the uvula Muscular dystrophy Limb muscle weakness Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Elevated serum creatine phosphokinase Distal muscle weakness Prolonged G2 phase of cell cycle Partial duplication of thumb phalanx Hypoplasia of the ulna Aplasia/Hypoplasia of the iris Reduced bone mineral density Multiple cafe-au-lait spots Myeloid leukemia Absent thumb Hydroureter Ectopic kidney Squamous cell carcinoma Glucose intolerance Tracheoesophageal fistula Triphalangeal thumb Hyperinsulinemia Abnormality of the urinary system Abnormality of vision Hypopigmented skin patches Absent radius Renal hypoplasia/aplasia Cranial nerve paralysis Leukopenia Type I diabetes mellitus Abnormal vertebral morphology Insulin resistance Cafe-au-lait spot Telangiectasia Recurrent urinary tract infections Aganglionic megacolon Abnormality of the genital system Choanal atresia Short palpebral fissure Acute myeloid leukemia Aplasia/Hypoplasia of the radius Low-grade fever Acute monocytic leukemia Meckel diverticulum Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Abnormality of femur morphology Irregular hyperpigmentation Bicornuate uterus Abnormality of the thumb Abnormality of the testis Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage Hearing abnormality External ear malformation Sudden cardiac death Syndactyly Palpitations Heart murmur Double outlet right ventricle Abnormal eyelash morphology Bipolar affective disorder Wheezing Transposition of the great arteries Natal tooth Slender finger Partial agenesis of the corpus callosum Atrioventricular canal defect Hypoplastic left heart Aplasia/Hypoplasia of the eyebrow Hammertoe Chorioretinal coloboma Diastasis recti Ectropion Trigonocephaly Hand polydactyly Pyloric stenosis Schizophrenia Infantile muscular hypotonia Tachypnea Abnormal palate morphology Holoprosencephaly Multicystic kidney dysplasia Aortic valve stenosis Leukodystrophy Missing ribs Retinal dysplasia Sinusitis U-Shaped upper lip vermilion Megakaryocyte dysplasia Congenital thrombocytopenia Bilateral camptodactyly Arteria lusoria Internal hemorrhage Annular pancreas Abnormality of the anus Toe clinodactyly Giant platelets Macular hypoplasia Clitoral hypoplasia Central hypothyroidism Urethral stenosis Chronic constipation Long hallux Abnormality of the head Nasolacrimal duct obstruction Broad columella Abnormal thrombocyte morphology Labial hypoplasia Aplasia/Hypoplasia of the earlobes Nuclear cataract Broad hallux phalanx Mitral stenosis Ectopic anus Duodenal atresia Eyelid coloboma Short toe Pachygyria Progressive muscle weakness Hypersomnia Talipes equinovarus Optic atrophy Macrocephaly Wide nasal bridge Flexion contracture Spasticity Muscular hypotonia Iridescent posterior subcapsular cataract Insulin insensitivity Diffuse leukoencephalopathy Frontal balding Type 2 muscle fiber atrophy Arteriosclerosis Short nose Neck flexor weakness IgM deficiency Elevated circulating follicle stimulating hormone level Male hypogonadism Oligospermia IgG deficiency Neurofibrillary tangles Increased variability in muscle fiber diameter Epiphora Myotonia Leukoencephalopathy Spontaneous abortion Anteverted nares Sloping forehead Abnormal form of the vertebral bodies Neurological speech impairment Eczema Microdontia Otitis media Intestinal malrotation Premature birth Postural instability Microcornea Single transverse palmar crease Iris coloboma Smooth philtrum Talipes Narrow chest Skin rash Immunodeficiency Coloboma Craniosynostosis Camptodactyly Telecanthus Hydronephrosis Hypoglycemia Osteopenia High forehead Osteoporosis Prominent forehead Agenesis of corpus callosum Recurrent infections Cerebral atrophy Oligohydramnios Oligosacchariduria Tetralogy of Fallot Asymmetry of the thorax Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Reduced factor XII activity Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Multiple lentigines Reduced factor XIII activity Schwannoma Synovitis Shield chest Restrictive cardiomyopathy Atrial flutter Nonimmune hydrops fetalis Drusen Malignant hyperthermia Arnold-Chiari type I malformation Gonadal dysgenesis Neuroblastoma Gonadal neoplasm Nasogastric tube feeding Male infertility Neonatal hypotonia Malabsorption Congenital cataract Platyspondyly Corneal opacity Camptodactyly of finger Joint stiffness Protruding ear Aggressive behavior Proteinuria Anxiety Arthritis EEG abnormality Preductal coarctation of the aorta Acidosis Mandibular prognathia Reduced visual acuity Glaucoma Hyporeflexia Areflexia Depressivity Kyphosis Blindness Respiratory insufficiency Motor delay Postductal coarctation of the aorta Abnormality of the vertebral column Cystic hygroma Delayed puberty Abnormal hand morphology Kyphoscoliosis Polyhydramnios Abdominal pain Posteriorly rotated ears Rod-cone dystrophy Dilatation Splenomegaly Vomiting Edema Myopia Moyamoya phenomenon Abnormality of the nares Broad forehead Broad finger Congenital ptosis Abnormal left ventricle morphology Stroke-like episode Premature graying of hair Cerebral hemorrhage Short phalanx of finger Decreased testicular size Small hand Wide nose Stroke Sparse hair Hypotrichosis Neurofibromas Bicuspid aortic valve Abnormality of color vision Leukocytosis Abnormality of the coagulation cascade Radial deviation of finger Cubitus valgus Patent foramen ovale Failure to thrive in infancy Elevated alkaline phosphatase Pterygium Poor suck Arnold-Chiari malformation Plagiocephaly Pulmonic stenosis Lymphedema Left ventricular hypertrophy Clumsiness Primary amenorrhea Low posterior hairline Ventricular hypertrophy Amenorrhea Wide intermamillary distance Dental malocclusion Abdominal distention Triangular face High, narrow palate Carious teeth Genu valgum Renal agenesis Keloids Finger swelling Elevated amniotic fluid alpha-fetoprotein Periventricular cysts Benign neoplasm of the central nervous system Elevated serum acid phosphatase Abnormality of calcium-phosphate metabolism Chorioretinal dysplasia Vitamin D deficiency Proximal renal tubular acidosis Urogenital fistula Renal Fanconi syndrome Cheilitis Elevated maternal serum alpha-fetoprotein Abnormality of the renal tubule Lacrimation abnormality Abnormal pupil morphology Buphthalmos Hyperphosphaturia Atelectasis Generalized hypopigmentation Renal tubular dysfunction Taurodontia Periodontitis Hyperaldosteronism Odontogenic neoplasm Bicarbonaturia Atypical scarring of skin Weight loss Lymphoma Hypopigmentation of the skin Neutropenia Abnormality of skin pigmentation Vertigo Astigmatism Abnormality of the foot Abnormality of the liver Abnormality of the kidney Abnormality of the eye Carcinoma Severe short stature Abnormality of dentin Respiratory distress Abnormality of the skeletal system Fatigue Hyperreflexia Hepatomegaly Cleft palate Ataxia Abnormality of metabolism/homeostasis Dense posterior cortical cataract Hypoammonemia Wrist swelling Lentiglobus Gingivitis Patellar dislocation Joint hyperflexibility Sparse scalp hair Skin ulcer Clonus Abnormality of epiphysis morphology Stereotypy Nephrolithiasis Dental crowding Hypoplasia of dental enamel Subcutaneous nodule Abnormality of the metaphysis Open mouth Osteoarthritis Fine hair Nephrocalcinosis Abnormality of the ribs Aciduria Increased serum lactate Full cheeks Recurrent fractures Delayed eruption of teeth Metabolic acidosis Everted lower lip vermilion Hematuria Joint hypermobility Long face Joint contracture of the hand Narrow palate Multiple renal cysts Diabetes insipidus Joint swelling Renal tubular acidosis Osteomalacia Glomerulopathy Abnormal joint morphology Hyperparathyroidism Pathologic fracture Congenital glaucoma Dysphasia Hypophosphatemia Open bite Obsessive-compulsive behavior Aminoaciduria Hyponatremia Chronic otitis media Self-injurious behavior Glomerulonephritis Rickets Abnormality of the voice Hypokalemia Hypercalciuria Deep philtrum Reduced number of teeth Neoplasm of the skin Abnormality of dental enamel Abnormality of the curvature of the vertebral column



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Neuroblastoma and Abnormality of the eye, related diseases and genetic alterations Fever and Recurrent infections, related diseases and genetic alterations Hyperreflexia and Sepsis, related diseases and genetic alterations Depressed nasal bridge and Arthralgia, related diseases and genetic alterations Myopathy and Lymphedema, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more