Autoimmunity, and Hypogonadism

Diseases related with Autoimmunity and Hypogonadism

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


Top matches:

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 MCCUNE-ALBRIGHT SYNDROME; MAS


Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in the course of development which yields a monoclonal population of mutated cells within variously affected tissues. The nonmosaic state for most activating mutations is presumably lethal to the embryo. The disorder is characterized clinically by the classic triad of polyostotic fibrous dysplasia (POFD), cafe-au-lait skin pigmentation, and peripheral precocious puberty. However, the disorder is clinically heterogeneous and can include various other endocrinologic anomalies such as thyrotoxicosis, pituitary gigantism, and Cushing syndrome (OMIM ) (Lumbroso et al., 2004).

MCCUNE-ALBRIGHT SYNDROME; MAS Is also known as albright syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Abnormal facial shape
  • Depressed nasal bridge
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCCUNE-ALBRIGHT SYNDROME; MAS

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 AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1


Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.

AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1 Is also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy|apeced|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome|autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome|apeced syndrome|polyglandular autoimmu

Related symptoms:

  • Seizures
  • Abnormal facial shape
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1

Low match PSEUDOHYPOPARATHYROIDISM TYPE 1C


Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha).

PSEUDOHYPOPARATHYROIDISM TYPE 1C Is also known as php ic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Cataract


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1C

Low match PSEUDOHYPOPARATHYROIDISM TYPE 1A


Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term).

PSEUDOHYPOPARATHYROIDISM TYPE 1A Is also known as albright hereditary osteodystrophy-php syndrome ia|aho-php syndrome ia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1A

Low match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Low match BARDET-BIEDL SYNDROME 11; BBS11


BBS11 was diagnosed in members of a single Israeli Bedouin family based on the presence of at least 3 of the following features: obesity, polydactyly, renal anomalies, retinopathy, hypogonadism, and learning disabilities (Chiang et al., 2006).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Obesity
  • Hypogonadism
  • Polydactyly
  • Abnormality of the kidney
  • Retinopathy


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 11; BBS11

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 HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA; HH17


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Abnormality of the dentition
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA; HH17

Top 5 symptoms//phenotypes associated to Autoimmunity and Hypogonadism

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hypothyroidism Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Sensorineural hearing impairment Hypergonadotropic hypogonadism Hyporeflexia Depressivity Obesity Short neck Nystagmus Muscle cramps Cerebral calcification Cognitive impairment Vomiting Depressed nasal bridge Diabetes mellitus Dyspnea Alopecia Basal ganglia calcification Polyphagia Prolonged QT interval Dystonia Oligomenorrhea Diarrhea Peripheral neuropathy Abnormality of the liver Pseudohypoparathyroidism Hypertension Involuntary movements Growth hormone deficiency Anxiety Hypotrichosis Hypoplasia of dental enamel Retinopathy Rod-cone dystrophy Constipation Visual impairment Nausea Pigmentary retinopathy Hypocalcemia Delayed puberty Hypogonadotrophic hypogonadism Adrenal insufficiency Irritability Paresthesia Confusion Round face Abnormality of the dentition Photophobia Amenorrhea Congestive heart failure Global developmental delay Failure to thrive Abnormal facial shape Hirsutism Goiter Blindness

Rare Symptoms - Less than 30% cases


Chronic active hepatitis Pancreatitis Brachydactyly Macular degeneration Generalized hirsutism Abnormality of retinal pigmentation Anorexia Type II diabetes mellitus Left ventricular hypertrophy Pulmonary arterial hypertension Polydactyly Delayed eruption of teeth Full cheeks Chest pain Specific learning disability Nephropathy Short metacarpal Abnormality of the kidney Renal insufficiency Female hypogonadism Chronic diarrhea Tubulointerstitial nephritis Malabsorption Nausea and vomiting Retinal pigment epithelial atrophy Otitis media Posterior subcapsular cataract Glomerulopathy Hepatitis Progressive sensorineural hearing impairment Sinusitis Hypoparathyroidism Aplasia/Hypoplasia of the cerebellum Type I diabetes mellitus Hypopigmented skin patches Cholelithiasis Constriction of peripheral visual field Diabetes insipidus Thyroiditis Primary adrenal insufficiency Increased bone mineral density Vitiligo Short metatarsal Conjunctivitis Ataxia Broad distal phalanx of the thumb Low urinary cyclic AMP response to PTH administration Choroid plexus calcification Osteoma cutis Abdominal pain Pituitary resistance to thyroid hormone Strabismus Myoclonus Visual loss Hyperostosis frontalis interna Growth delay Weight loss Pain Feeding difficulties Motor delay Hepatomegaly Optic atrophy Fatigue Respiratory insufficiency Respiratory distress Cardiomyopathy Encephalopathy Short fifth metatarsal Abdominal symptom Kyphosis Calcinosis Carious teeth Ophthalmoplegia Generalized tonic-clonic seizures Dilated cardiomyopathy Nyctalopia Proteinuria Hyperphosphatemia Short 4th metacarpal Myalgia Jaundice Elevated circulating parathyroid hormone level Ectopic ossification Autoimmune antibody positivity Constrictive median neuropathy Short 5th metacarpal Gastroesophageal reflux Laryngeal dystonia Hypocalcemic seizures Autism Prolactin deficiency Myoclonic spasms Hypocalcemic tetany Short 3rd metacarpal Osteoporosis Pallor Hyperthyroidism Psychosis Hyperlipidemia Primary amenorrhea Mental deterioration Protruding ear Sparse hair Abnormality of the thyroid gland Abdominal distention Arthrogryposis multiplex congenita Polyneuropathy Acne Precocious puberty in females Purpura Anosmia Hallucinations Decreased testicular size Increased circulating cortisol level Choreoathetosis Dehydration Infertility Bilateral sensorineural hearing impairment Gynecomastia Hyperostosis Ovarian cyst Hyperreflexia Delayed speech and language development Hypercalciuria Precocious puberty Abnormal spermatogenesis Hypertelorism Ichthyosis Decreased liver function Microcephaly Dysarthria Elevated alkaline phosphatase Heart block Scoliosis Anemia Nephrocalcinosis Gait disturbance Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Multinodular goiter Dilatation of the bladder Pes planus Scarring Respiratory tract infection Hepatosplenomegaly Autistic behavior Deeply set eye Postnatal growth retardation Conductive hearing impairment Elevated hepatic transaminase Recurrent cystitis Unilateral breast hypoplasia Glue ear Thickened ears Cirrhosis Cough Gastrointestinal hemorrhage Hepatic fibrosis Insulin resistance Thickened skin Recurrent urinary tract infections Recurrent otitis media Hypertriglyceridemia Epidermal acanthosis Cardiomegaly Nonproductive cough Optic disc pallor Abnormal adipose tissue morphology Cyanosis Receptive language delay Progressive visual loss Urinary incontinence Hypermetropia Vesicoureteral reflux Asthma Ascites Granular macular appearance Sleep disturbance Hepatic steatosis Retinal dystrophy Hepatic failure Tachycardia Stage 5 chronic kidney disease Lymphadenopathy Retinal degeneration Dry skin Pulmonic stenosis Kyphoscoliosis Pneumonia Hyperkeratosis Muscle fiber atrophy Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Localized hirsutism Vitreous haze Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Psychomotor deterioration Crohn's disease Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Abnormality of the femoral head Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Abnormality of the cerebellar vermis Hemeralopia Respiratory failure Morphological abnormality of the inner ear Widely-spaced incisors Hyperhidrosis Abnormal retinal artery morphology EEG with occipital slowing Recurrent respiratory infections Patent ductus arteriosus Clinodactyly Dilatation Splenomegaly Behavioral abnormality Abnormality of prothrombin Abnormality of renal calyx morphology Prominent ear helix Morphological abnormality of the vestibule of the inner ear Abnormal macular morphology Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Hyperpigmentation of the skin Childhood-onset truncal obesity Exudative retinopathy Chorioretinal atrophy Retinal atrophy Hypoventilation Severe sensorineural hearing impairment Thoracic scoliosis Pericarditis Subcapsular cataract Increased number of teeth Hyperuricemia Bronchitis Glycosuria Agenesis of permanent teeth Short finger Elevated C-reactive protein level Alopecia of scalp Pericardial effusion Arteriosclerosis Urinary retention Poor fine motor coordination Gait imbalance Pyelonephritis Chills Acute pancreatitis Achromatopsia Urethral stenosis Hepatic encephalopathy Abnormality of female external genitalia Peripheral visual field loss Hyperventilation Vertical nystagmus Abnormal renal morphology Male hypogonadism Myocarditis Myocardial fibrosis Chronic fatigue Chronic obstructive pulmonary disease Tubular atrophy Esophageal varix Recurrent bronchitis Restrictive cardiomyopathy High-frequency hearing impairment Decreased HDL cholesterol concentration Menstrual irregularities Endocardial fibroelastosis Poor coordination Acute hepatic failure Elevated serum creatinine Disinhibition Abnormal renal physiology Right ventricular hypertrophy Attenuation of retinal blood vessels Abnormal left ventricle morphology Testicular atrophy Tubulointerstitial fibrosis Pendular nystagmus Gingivitis Ketoacidosis Broad foot Bull's eye maculopathy Increased total bilirubin Short toe Polycystic ovaries Chronic otitis media Nephritis Hepatic necrosis Polydipsia Portal hypertension Chronic hepatic failure Facial hirsutism Lipodystrophy Hyperinsulinemia ST segment depression Abnormality of the hand Multifocal atrial tachycardia Cone/cone-rod dystrophy Hypoplastic male external genitalia Oligospermia Tachypnea Hypercholesterolemia Atherosclerosis Acanthosis nigricans Accelerated skeletal maturation Absence seizures High-frequency sensorineural hearing impairment Increased body weight Horizontal nystagmus Recurrent pneumonia Increased circulating androgen level Obsessive-compulsive behavior Abnormality of the pituitary gland Frontal balding Impaired temperature sensation Hematemesis Melena First degree atrioventricular block Abnormality of the optic disc Decreased glomerular filtration rate Chronic infection Abnormality of the urethra Lumbar scoliosis Abnormality of dental color Epigastric pain Abnormal chorioretinal morphology Urethral stricture Abnormal muscle tone Urethral obstruction Abnormal retinal morphology Truncal obesity Urinary urgency Hydroureter Pulmonary fibrosis Emphysema Albuminuria Polyuria Renovascular hypertension Squared iliac bones Glucose intolerance Hyperglycemia Impaired vibratory sensation Anterior hypopituitarism Polymicrogyria Reduced consciousness/confusion Progressive extrapyramidal movement disorder Chronic sinusitis Metaphyseal dysplasia Macular atrophy Opacification of the corneal stroma Abnormality of the fingernails Hypotension Decreased antibody level in blood Skin rash Rigidity Reduced visual acuity Progressive alopecia Hypoplasia of the fallopian tube Decreased serum insulin-like growth factor 1 Antinuclear antibody positivity Streak ovary Increased thyroid-stimulating hormone level Abnormal T-wave Decreased serum estradiol Decreased serum testosterone level Anodontia Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Flat occiput Sparse eyebrow Premature ovarian insufficiency Sparse scalp hair Adrenal hyperplasia Asplenia Fine hair Salt craving Muscular hypotonia Muscle weakness Broad 1st metacarpal Elevated calcitonin Abnormal platelet function Band keratopathy Spinal cord compression Thickened calvaria Reduced bone mineral density Abnormality of the skeletal system Patchy atrophy of the retinal pigment epithelium Decreased circulating parathyroid hormone level Chronic atrophic gastritis Chronic mucocutaneous candidiasis Abnormality of calcium-phosphate metabolism Chronic hepatitis Alopecia areata Keratoconjunctivitis Gastritis Central diabetes insipidus Alopecia universalis Decreased circulating aldosterone level Alopecia totalis Tetany Achalasia Abnormality of the cerebral vasculature Myocardial infarction Abnormality of extrapyramidal motor function Fever Nevus Hyperparathyroidism Freckling Pathologic fracture Neurofibromas Hypophosphatemia Rickets Hypercalcemia Neoplasm of the skin Aspiration Cafe-au-lait spot Tall stature Nephrolithiasis Facial asymmetry Growth hormone excess Synophrys Hyperactivity Neoplasm Maternal autoimmune disease Short nasal septum Vitamin K deficiency Epiphyseal stippling Abnormality of the vertebral column Systemic lupus erythematosus Short phalanx of finger Short distal phalanx of finger Short nose Osteomalacia Syringomyelia Dental malocclusion Downslanted palpebral fissures Prominent nose Triangular face Sensory neuropathy Abnormality of movement Prominent nasal bridge Camptodactyly High forehead Micropenis Babinski sign Abnormality of metabolism/homeostasis Intellectual disability, mild Frontal bossing High palate Prolactin excess Monostotic fibrous dysplasia Large cafe-au-lait macules with irregular margins Polyostotic fibrous dysplasia Thyroid nodule Axillary freckling Myelofibrosis Hamartomatous polyposis Craniofacial hyperostosis Intestinal polyposis Pituitary hypothyroidism Osteosarcoma Pituitary adenoma Ptosis Skeletal muscle atrophy Cerebral ischemia Bilateral ptosis Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Intestinal obstruction Personality changes Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Decreased nerve conduction velocity Bundle branch block Cachexia Atrioventricular block Chronic kidney disease Growth abnormality Easy fatigability Hyperkinesis Schizophrenia Mutism Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Overlapping toe Aphasia EMG abnormality Neonatal hypoglycemia Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Delusions Transient ischemic attack Progressive external ophthalmoplegia Mitochondrial myopathy Xerostomia Abnormality of visual evoked potentials Vestibular dysfunction Hashimoto thyroiditis Atopic dermatitis Drowsiness Distal arthrogryposis Pulmonary embolism Abnormality of immune system physiology Rhabdomyolysis Vertebral fusion Multiple lipomas Visual field defect Hyperkalemia Dysphasia Exercise intolerance Truncal ataxia Tremor Cerebral cortical atrophy Neurological speech impairment Stroke Attention deficit hyperactivity disorder Erythema Abnormality of the pinna Developmental regression Feeding difficulties in infancy Apnea Hypertrophic cardiomyopathy EEG abnormality Acidosis Gait ataxia Dementia Lethargy Cerebellar hypoplasia Delayed skeletal maturation Elevated serum creatine phosphokinase Areflexia Arrhythmia Cerebral atrophy Headache Hypertonia Cerebellar atrophy Myopathy Ventriculomegaly Dysphagia Pruritus Congenital cataract Cardiac arrest Hip dysplasia Clonus Cerebral visual impairment Gingival overgrowth Decreased body weight Hypertrichosis Hemiparesis Atrial fibrillation Ventricular hypertrophy Status epilepticus Nephrotic syndrome Generalized-onset seizure Abnormality of the cardiovascular system Memory impairment Anal atresia Increased serum lactate Migraine Sensory impairment Sudden cardiac death Generalized myoclonic seizures Abnormal cerebellum morphology Postural instability Coma Lactic acidosis Peripheral axonal neuropathy Vertigo Dysmetria Cleft palate



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