Autoimmunity, and Azoospermia

Diseases related with Autoimmunity and Azoospermia

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


Top matches:

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Low match WOODHOUSE-SAKATI SYNDROME


Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

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Other less relevant matches:

Low match SPERMATOGENIC FAILURE 12; SPGF12


Related symptoms:

  • Infertility
  • Azoospermia
  • Abnormal male germ cell morphology


SOURCES: OMIM MENDELIAN

More info about SPERMATOGENIC FAILURE 12; SPGF12

Low match SPERMATOGENIC FAILURE 29; SPGF29


Spermatogenic failure-29 is characterized by nonobstructive azoospermia or oligozoospermia. Sperm that are present are immotile and exhibit abnormal morphology, primarily defects of the acrosome and head-neck junction (Kherraf et al., 2017).For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (OMIM ).

Related symptoms:

  • Infertility
  • Azoospermia
  • Scaling skin
  • Oligospermia


SOURCES: OMIM MENDELIAN

More info about SPERMATOGENIC FAILURE 29; SPGF29

Low match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Low match CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1


CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 Is also known as chondrodysplasia punctata, brachytelephalangic|cpxr

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1

Low match DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS


Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).

DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS Is also known as progressive cutaneous systemic scleroderma|diffuse cutaneous systemic scleroderma|progressive cutaneous systemic sclerosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Hypertension
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS

Top 5 symptoms//phenotypes associated to Autoimmunity and Azoospermia

Symptoms // Phenotype % cases
Infertility Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases
Hypogonadism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Decreased testicular size Renal insufficiency Congestive heart failure Diarrhea Hearing impairment Hypothyroidism Hypertension Short stature Scoliosis Hyperlipidemia Cognitive impairment

Rare Symptoms - Less than 30% cases


Emphysema Nephritis Delayed speech and language development Arteriosclerosis Sensorineural hearing impairment Atherosclerosis Peripheral neuropathy Sparse hair Dystonia Alopecia Increased thyroid-stimulating hormone level Glomerulopathy Insulin-resistant diabetes mellitus Hypotrichosis Cataract Pulmonary arterial hypertension Carious teeth Gastroesophageal reflux Dyspnea Weight loss Constipation Pulmonary fibrosis Pain Delayed puberty Failure to thrive Global developmental delay Oligospermia Abnormal spermatogenesis Autoimmune thrombocytopenia Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Fine hair Diabetes mellitus Abnormality of the kidney Depressed nasal bridge Stage 5 chronic kidney disease Short neck Abnormality of the dentition Kyphosis Abnormal facial shape Proteinuria Nephropathy Cardiomyopathy Scarring Motor delay Pneumonia Growth delay Malabsorption Hyperuricemia Polyuria Pericarditis Subcapsular cataract Increased number of teeth Dyspareunia Hydroureter Bronchitis Abnormal retinal morphology Glycosuria Progressive sensorineural hearing impairment Urinary urgency Agenesis of permanent teeth Truncal obesity Short finger Polyphagia Chorioretinal atrophy Pericardial effusion Abnormality of the vertebral column Oliguria Thoracic scoliosis Broad foot Acute hepatic failure Elevated serum creatinine Right ventricular hypertrophy Attenuation of retinal blood vessels Scleroderma Xerostomia Tubulointerstitial nephritis Pendular nystagmus Gingivitis Ketoacidosis Pulmonary infiltrates Glucose intolerance Posterior subcapsular cataract Oligomenorrhea Poor coordination Hyperventilation Alopecia of scalp Osteolytic defects of the phalanges of the hand Peripheral visual field loss Retinal atrophy Hypoventilation Severe sensorineural hearing impairment Decreased urine output Impaired vibratory sensation Diabetes insipidus Insulin resistance Generalized hirsutism Increased body weight Horizontal nystagmus Recurrent pneumonia Short toe Gynecomastia Sinusitis Hyperpigmentation of the skin Hepatic fibrosis Decreased liver function Abnormality of retinal pigmentation Absence seizures Anorexia Chronic diarrhea Thickened skin Left ventricular hypertrophy Recurrent urinary tract infections Involuntary movements Recurrent otitis media Hypertriglyceridemia Epidermal acanthosis Type II diabetes mellitus Cardiomegaly Nephrocalcinosis Accelerated skeletal maturation Hyperglycemia Hyperinsulinemia Hyperostosis Acne Constriction of peripheral visual field Aplasia/Hypoplasia of the cerebellum Hypertensive crisis Obsessive-compulsive behavior Chronic otitis media Polydipsia Portal hypertension Lipodystrophy Precocious puberty Macular degeneration Elevated alkaline phosphatase Cholelithiasis Abnormality of the hand Polycystic ovaries Goiter Cone/cone-rod dystrophy Tachypnea Hypercholesterolemia Pancreatitis Acanthosis nigricans Narrow foramen obturatorium Recurrent bronchitis Male hypogonadism Tubular atrophy ST segment depression Hyperostosis frontalis interna Chronic active hepatitis Abnormal adipose tissue morphology Nonproductive cough Exudative retinopathy Increased circulating androgen level High-frequency sensorineural hearing impairment Flexion contracture Childhood-onset truncal obesity Multifocal atrial tachycardia Facial hirsutism Muscle weakness Chronic hepatic failure Hepatic necrosis Hypoplastic male external genitalia Abnormality of the pituitary gland Urethral obstruction Squared iliac bones Renovascular hypertension Albuminuria Abnormal muscle tone Female hypogonadism Impaired temperature sensation Receptive language delay Granular macular appearance Abnormal chorioretinal morphology Localized hirsutism Anosmia Short phalanx of finger Short distal phalanx of finger Epiphyseal stippling Ichthyosis Short nose Microcephaly Abnormality of the femoral head Vitamin K deficiency Vitreous haze Abnormality of renal calyx morphology Thickened ears Abnormality of prothrombin EEG with occipital slowing Precocious puberty in females Abnormal retinal artery morphology Short nasal septum Maternal autoimmune disease Widely-spaced incisors Recurrent cystitis Glue ear Unilateral breast hypoplasia Dilatation of the bladder Urethral stricture Epigastric pain Telangiectasia of the skin Endocardial fibroelastosis Urinary retention Elevated C-reactive protein level Tubulointerstitial fibrosis Testicular atrophy Abnormal left ventricle morphology Skin ulcer Osteolysis Abnormal renal physiology Disinhibition Retinal pigment epithelial atrophy Abnormal renal morphology Pyelonephritis Menstrual irregularities Decreased HDL cholesterol concentration Ovarian cyst High-frequency hearing impairment Restrictive cardiomyopathy Esophageal varix Chronic obstructive pulmonary disease Chronic fatigue Myocardial fibrosis Systemic lupus erythematosus Myocarditis Poor fine motor coordination Hepatitis Abnormality of dental color Increased total bilirubin Lumbar scoliosis Dysphagia Abnormality of the urethra Chronic infection Decreased glomerular filtration rate Abnormality of the optic disc First degree atrioventricular block Melena Hematemesis Frontal balding Arthralgia Arthritis Telangiectasia Vertical nystagmus Nausea and vomiting Bull's eye maculopathy Multinodular goiter Abnormality of female external genitalia Hepatic encephalopathy Urethral stenosis Abnormality of the skin Achromatopsia Acute pancreatitis Chills Optic disc pallor Nyctalopia Pigmentary retinopathy Cerebral ischemia Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Right ventricular cardiomyopathy Cellular immunodeficiency Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Villous atrophy Abnormal T cell morphology Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Transient ischemic attack Abnormality of the vasculature Protuberant abdomen Multiple cafe-au-lait spots Steatorrhea Encephalomalacia Abnormal immunoglobulin level Combined immunodeficiency Abnormality of metabolism/homeostasis Sensory neuropathy Abnormality of movement Arthrogryposis multiplex congenita Prominent nasal bridge Protruding ear Camptodactyly Mental deterioration High forehead Micropenis Babinski sign Intellectual disability, mild Moyamoya phenomenon Frontal bossing Gait disturbance Downslanted palpebral fissures Dysarthria Hyperreflexia High palate Hypertelorism Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Hypermelanotic macule High pitched voice Triangular face Thin upper lip vermilion Neutropenia Bulbous nose Abnormality of skin pigmentation Astigmatism Platyspondyly Hip dislocation Corneal opacity Stroke Hyperlordosis Developmental regression Osteopenia Gliosis Dementia Thrombocytopenia Recurrent infections Headache Immunodeficiency Cerebellar atrophy Intrauterine growth retardation Fever Myopia Anemia Abnormal cerebellum morphology Brain atrophy Focal segmental glomerulosclerosis Bone marrow hypocellularity Spondyloepiphyseal dysplasia Melanocytic nevus Glomerulonephritis Epiphyseal dysplasia Glomerulosclerosis Encephalitis Chronic kidney disease Coarse hair Reduced bone mineral density Opacification of the corneal stroma Lymphopenia Migraine Abnormality of epiphysis morphology Heterotopia Abnormal form of the vertebral bodies Abnormal lung morphology Intellectual disability, profound Lumbar hyperlordosis Nephrotic syndrome Microdontia Waddling gait Lymphoma Premature birth Polyneuropathy Prominent nose Cyanosis Elevated hepatic transaminase Cough Retinopathy Abnormality of the liver Autistic behavior Pallor Respiratory tract infection Postnatal growth retardation Irritability Myalgia Conductive hearing impairment Deeply set eye Generalized tonic-clonic seizures Photophobia Jaundice Hepatosplenomegaly Pes planus Kyphoscoliosis Autism Hyperkeratosis Respiratory failure Polydactyly Abdominal pain Dilated cardiomyopathy Hypermetropia Myoclonus Ascites Specific learning disability Progressive visual loss Otitis media Growth hormone deficiency Gastrointestinal hemorrhage Round face Urinary incontinence Vesicoureteral reflux Asthma Abdominal distention Sleep disturbance Ophthalmoplegia Hepatic steatosis Retinal dystrophy Hirsutism Hepatic failure Tachycardia Cirrhosis Nausea Lymphadenopathy Retinal degeneration Dry skin Pulmonic stenosis Hyperhidrosis Rod-cone dystrophy Dental malocclusion Premature ovarian insufficiency Streak ovary Abnormal T-wave Decreased serum estradiol Decreased serum testosterone level Anodontia Heart block Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Flat occiput Sparse eyebrow Purpura Progressive extrapyramidal movement disorder Hallucinations Choreoathetosis Sparse scalp hair Primary amenorrhea Myocardial infarction Psychosis Abnormality of extrapyramidal motor function Bilateral sensorineural hearing impairment Dehydration Amenorrhea Decreased serum insulin-like growth factor 1 Hypoplasia of the fallopian tube Recurrent respiratory infections Blindness Hyporeflexia Patent ductus arteriosus Visual loss Clinodactyly Encephalopathy Depressivity Obesity Dilatation Splenomegaly Behavioral abnormality Respiratory distress Progressive alopecia Respiratory insufficiency Fatigue Optic atrophy Hepatomegaly Visual impairment Feeding difficulties Strabismus Nystagmus Ataxia Scaling skin Abnormal male germ cell morphology Abnormal bowel sounds



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