Autoimmunity, and Delayed puberty

Diseases related with Autoimmunity and Delayed puberty

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


Top matches:

Low match HEREDITARY SPHEROCYTOSIS


Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.

HEREDITARY SPHEROCYTOSIS Is also known as sph|hs|minkowski-chauffard disease|hs1|spherocytosis, hereditary, 1

Related symptoms:

  • Short stature
  • Anemia
  • Fatigue
  • Abnormality of the skeletal system
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SPHEROCYTOSIS

Low match STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE


Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune DiseaseSee also ADMIO2 (OMIM ), caused by mutation in the ZAP70 gene (OMIM ) on chromosome 2q12.

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE

Low match CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1


Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy (GSE), is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002). Long regarded as gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more often diagnosed in adults than in children (Monsuur et al., 2005).For a discussion of genetic heterogeneity of celiac disease, see MAPPING.

CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1 Is also known as celiac sprue, susceptibility to, 1|gluten-sensitive enteropathy, susceptibility to, 1

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Failure to thrive
  • Anemia


SOURCES: OMIM MENDELIAN

More info about CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1

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Other less relevant matches:

Low match AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME


Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.

AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME Is also known as candf7|candidiasis, familial, 7|candidiasis, familial chronic mucocutaneous, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Anemia
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME

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

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 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 SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME


SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME Is also known as hbs-beta-thalassemia syndrome

Related symptoms:

  • Pain
  • Anemia
  • Hypertension
  • Pneumonia
  • Jaundice


SOURCES: ORPHANET MENDELIAN

More info about SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME

Low match FACIAL DYSMORPHISM-IMMUNODEFICIENCY-LIVEDO-SHORT STATURE SYNDROME


Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.

FACIAL DYSMORPHISM-IMMUNODEFICIENCY-LIVEDO-SHORT STATURE SYNDROME Is also known as fils syndrome

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Macrocephaly
  • Malar flattening


SOURCES: ORPHANET OMIM MENDELIAN

More info about FACIAL DYSMORPHISM-IMMUNODEFICIENCY-LIVEDO-SHORT STATURE SYNDROME

Low match HELLP SYNDROME


Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of pregnancy, is characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. Preeclampsia is 1 of the top 4 causes of maternal mortality and morbidity worldwide (summary by Payne et al., 2011).Preeclampsia is otherwise known as gestational proteinuric hypertension (Davey and MacGillivray, 1988). A high proportion of patients with preeclampsia have glomerular endotheliosis, the unique histopathologic feature of the condition (Fisher et al., 1981). A distinct form of severe preeclampsia is characterized by hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome) (Brown et al., 2000). Genetic Heterogeneity of Preeclampsia/EclampsiaSusceptibility loci for preeclampsia/eclampsia include PEE1 on chromosome 2p13, PEE2 (OMIM ) on chromosome 2p25, and PEE3 (OMIM ) on chromosome 9p13. PEE4 (OMIM ) is caused by mutation in the STOX1 gene (OMIM ) on chromosome 10q22. PEE5 (OMIM ) is caused by mutation in the CORIN gene (OMIM ) on chromosome 4p12. An association with PEE has been found with the EPHX1 gene (OMIM ) on chromosome 1q.

HELLP SYNDROME Is also known as hemolysis-elevated liver enzymes-low platelets syndrome|toxemia of pregnancy|hemolysis, elevated liver enzymes, low platelets in pregnancy|preg1|pee

Related symptoms:

  • Seizures
  • Hypertension
  • Intrauterine growth retardation
  • Edema
  • Renal insufficiency


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HELLP SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Delayed puberty

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Hypothyroidism Uncommon - Between 30% and 50% cases
Diabetes mellitus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Pain Type I diabetes mellitus Pneumonia Hypertension Diarrhea Recurrent respiratory infections Fatigue Autoimmune thrombocytopenia Jaundice Ataxia Failure to thrive Vomiting Abnormal intestine morphology Depressivity Abdominal pain Hearing impairment Sensorineural hearing impairment Intellectual disability Peripheral neuropathy Purpura Elevated hepatic transaminase Polyneuropathy Renal insufficiency Hypogonadotrophic hypogonadism Thyroiditis Global developmental delay Growth delay Congestive heart failure Hypogonadism Cognitive impairment Dystonia Pulmonary arterial hypertension Weight loss Alopecia Thrombocytopenia Autoimmune hemolytic anemia Recurrent infections Abnormality of the dentition Proteinuria Hepatosplenomegaly Hemolytic anemia Immunodeficiency Inflammatory abnormality of the skin Cardiomyopathy Eczema

Rare Symptoms - Less than 30% cases


Amenorrhea Decreased testicular size Hypotrichosis Arthrogryposis multiplex congenita Bilateral sensorineural hearing impairment Sparse hair Psychosis Protruding ear Mental deterioration Pancreatitis Nausea Gastroesophageal reflux Goiter Encephalopathy High forehead Delayed speech and language development Carious teeth Generalized tonic-clonic seizures Scoliosis Hypertelorism Dilated cardiomyopathy Stroke Nyctalopia Dyspnea Abnormality of the liver Hyperreflexia Dysarthria Gait disturbance Myalgia Photophobia Macular degeneration Autism Generalized hirsutism Specific learning disability Myoclonus Nephropathy Rod-cone dystrophy Constipation Hyporeflexia Pigmentary retinopathy Optic atrophy Hepatomegaly Respiratory insufficiency Visual loss Short neck Respiratory distress Blindness Kyphosis Renovascular hypertension Hirsutism Hallucinations Left ventricular hypertrophy Hypergonadotropic hypogonadism Hyperlipidemia Abnormality of retinal pigmentation Insulin-resistant diabetes mellitus Heart block Anorexia Abnormal spermatogenesis Motor delay Involuntary movements Type II diabetes mellitus Nystagmus Cataract Feeding difficulties Visual impairment Aplasia/Hypoplasia of the cerebellum Ophthalmoplegia Anxiety Progressive sensorineural hearing impairment Cholelithiasis Postnatal growth retardation Irritability Chronic fatigue Posterior subcapsular cataract Osteoporosis Hepatitis Dilatation Arthralgia Glomerulopathy Retinal pigment epithelial atrophy Respiratory tract infection Primary hypothyroidism Lymphadenopathy Pulmonary embolism Hashimoto thyroiditis Malabsorption Headache Cerebral calcification Celiac disease Tubulointerstitial nephritis Splenomegaly Chronic diarrhea Lymphopenia Hypertrophic cardiomyopathy Erythema Abdominal distention Atopic dermatitis Infertility Delayed skeletal maturation Tachypnea Spotty hypopigmentation Hypercholesterolemia Cone/cone-rod dystrophy Retinopathy Paronychia Abnormal mitochondrial morphology Polycystic ovaries Atherosclerosis Acanthosis nigricans Accelerated skeletal maturation Edema of the dorsum of hands Absence seizures Nephrocalcinosis Abnormal macular morphology Lipodystrophy Abnormality of the hand Amaurosis fugax Glucose intolerance Leber optic atrophy Diabetes insipidus Hyperglycemia Hyperostosis Acne Impaired vibratory sensation Constriction of peripheral visual field Obsessive-compulsive behavior Spontaneous hematomas Gastroparesis Chronic otitis media Auditory hallucinations Elevated alkaline phosphatase Abnormal nerve conduction velocity Renal Fanconi syndrome Nephritis Tubulointerstitial abnormality Polydipsia Portal hypertension Psychotic episodes Horizontal nystagmus Hyperinsulinemia Abnormality of the cerebellar vermis Crohn's disease Precocious puberty Hemeralopia Increased body weight Gynecomastia Recurrent pneumonia Abnormality of the kidney Otitis media Polydactyly Growth hormone deficiency Gastrointestinal hemorrhage Respiratory failure Round face Urinary incontinence Hyperkeratosis Kyphoscoliosis Vesicoureteral reflux Pes planus Deeply set eye Conductive hearing impairment Asthma Progressive visual loss Ascites Sleep disturbance Hepatic steatosis Pallor Hepatic failure Tachycardia Cirrhosis Autistic behavior Stage 5 chronic kidney disease Scarring Retinal degeneration Dry skin Pulmonic stenosis Hypermetropia Hyperhidrosis Patent ductus arteriosus Cochlear malformation Thickened skin Short toe Cough Progressive night blindness Cochlear degeneration Abnormal mitochondrial shape Sinusitis Hyperpigmentation of the skin Hepatic fibrosis Decreased liver function Paralytic ileus Abnormal cochlea morphology Homonymous hemianopia Insulin resistance Abnormality of acid-base homeostasis Episodic quadriplegia Clinodactyly Bilateral intracranial calcifications Recurrent urinary tract infections Morphological abnormality of the vestibule of the inner ear Recurrent otitis media Morphological abnormality of the inner ear Prominent ear helix Hypertriglyceridemia Epidermal acanthosis Cardiomegaly Optic disc pallor Cyanosis Strabismus Behavioral abnormality Obesity Retinal dystrophy Right ventricular hypertrophy Polyuria Albuminuria Nonproductive cough Exudative retinopathy Increased circulating androgen level High-frequency sensorineural hearing impairment Childhood-onset truncal obesity Multifocal atrial tachycardia ST segment depression Facial hirsutism Chronic hepatic failure Hepatic necrosis Hypoplastic male external genitalia Abnormality of the pituitary gland Urethral obstruction Squared iliac bones Abnormal muscle tone Chronic active hepatitis Female hypogonadism Impaired temperature sensation Urethral stricture Abnormal chorioretinal morphology Epigastric pain Abnormality of dental color Lumbar scoliosis Abnormality of the urethra Chronic infection Decreased glomerular filtration rate Abnormality of the optic disc First degree atrioventricular block Melena Hematemesis Abnormal adipose tissue morphology Hyperostosis frontalis interna Increased total bilirubin Heart murmur Eclampsia Preeclampsia Cerebral hemorrhage Edema Intrauterine growth retardation Telangiectases of the cheeks Relative macrocephaly Meningitis Bone pain Telangiectasia Broad forehead Malar flattening Macrocephaly Abnormal facial shape Abnormality of the femoral head Receptive language delay Vitreous haze Localized hirsutism Abnormality of renal calyx morphology Abnormality of prothrombin EEG with occipital slowing Precocious puberty in females Abnormal retinal artery morphology Widely-spaced incisors Recurrent cystitis Glue ear Unilateral breast hypoplasia Dilatation of the bladder Thickened ears Granular macular appearance Frontal balding Vertical nystagmus Emphysema Pericarditis Attenuation of retinal blood vessels Pendular nystagmus Gingivitis Ketoacidosis Broad foot Oligomenorrhea Poor coordination Hyperventilation Alopecia of scalp Peripheral visual field loss Retinal atrophy Hypoventilation Severe sensorineural hearing impairment Thoracic scoliosis Subcapsular cataract Elevated serum creatinine Increased number of teeth Hyperuricemia Bronchitis Glycosuria Agenesis of permanent teeth Short finger Polyphagia Chorioretinal atrophy Pericardial effusion Abnormal retinal morphology Truncal obesity Urinary urgency Hydroureter Pulmonary fibrosis Writer's cramp Acute hepatic failure Bull's eye maculopathy Abnormal left ventricle morphology Multinodular goiter Abnormality of female external genitalia Hepatic encephalopathy Urethral stenosis Achromatopsia Acute pancreatitis Chills Pyelonephritis Poor fine motor coordination Urinary retention Arteriosclerosis Elevated C-reactive protein level Tubulointerstitial fibrosis Testicular atrophy Abnormal renal physiology Recurrent bronchitis Esophageal varix Tubular atrophy Myocarditis Oligospermia Male hypogonadism Myocardial fibrosis Chronic obstructive pulmonary disease Restrictive cardiomyopathy Disinhibition High-frequency hearing impairment Ovarian cyst Decreased HDL cholesterol concentration Menstrual irregularities Abnormal renal morphology Endocardial fibroelastosis Persistence of primary teeth Growth abnormality Muscle fiber atrophy Abnormality of movement Premature ovarian insufficiency Choreoathetosis Sparse scalp hair Primary amenorrhea Myocardial infarction Fine hair Abnormality of extrapyramidal motor function Dehydration Dental malocclusion Prominent nose Triangular face Sensory neuropathy Prominent nasal bridge Flat occiput Camptodactyly Micropenis Babinski sign Abnormality of metabolism/homeostasis Intellectual disability, mild Frontal bossing Downslanted palpebral fissures High palate Abnormal serum interferon-gamma level Medial calcification of large arteries Esophageal carcinoma Oropharyngeal squamous cell carcinoma Susceptibility to herpesvirus Sparse eyebrow Aplasia/Hypoplasia of the eyebrow Carotid artery dilatation Fever Dementia Cerebellar hypoplasia Elevated serum creatine phosphokinase Areflexia Arrhythmia Cerebral atrophy Hypertonia Cerebellar atrophy Myopathy Ventriculomegaly Dysphagia Tremor Skeletal muscle atrophy Ptosis Hypoplasia of the uterus Muscular hypotonia Muscle weakness Microcephaly Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Increased thyroid-stimulating hormone level Abnormal T-wave Decreased serum estradiol Decreased serum testosterone level Anodontia Recurrent Aspergillus infections Functional abnormality of the bladder Gait ataxia Scleroderma Macrocytic anemia Steatorrhea Malnutrition Abnormality of the coagulation cascade Rickets Spontaneous abortion Hypocalcemia Hypoplasia of dental enamel Lymphoma Nevus Interstitial pneumonitis Recurrent ear infections Colitis Iron deficiency anemia Interstitial pulmonary abnormality Abnormal lung morphology Decreased antibody level in blood Neutropenia Leukemia Arthritis Erythroid hypoplasia Elliptocytosis Spherocytosis Reticulocytosis Hyperbilirubinemia Palpitations Abnormality of the skeletal system IgA deficiency Thrombocytosis Autoimmune neutropenia Encephalitis Renal artery stenosis Antiphospholipid antibody positivity B lymphocytopenia Decrease in T cell count Enterocolitis Immune dysregulation Generalized osteoporosis Villous atrophy Chronic mucocutaneous candidiasis Abnormality of the endocrine system Dilatation of the cerebral artery Inflammation of the large intestine Patent foramen ovale Recurrent upper respiratory tract infections Prolonged partial thromboplastin time Leukoencephalopathy Bronchiectasis Sepsis Carcinoma Osteopenia Vitamin B12 deficiency Vitamin K deficiency Vitamin D deficiency Folate deficiency Abnormality of the abdominal wall Prolonged prothrombin time Recurrent aphthous stomatitis Stomatitis Cerebral cortical atrophy Acidosis Psychomotor deterioration Dysphasia Drowsiness Distal arthrogryposis Primary adrenal insufficiency Abnormality of immune system physiology Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Hyperkalemia Vestibular dysfunction Neonatal hypoglycemia Aphasia Bundle branch block Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Intestinal obstruction Personality changes Ophthalmoparesis Hyponatremia Abnormality of visual evoked potentials Vitiligo Aortic aneurysm Gait imbalance Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Reduced consciousness/confusion Xerostomia Cerebral ischemia 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 Hypoparathyroidism Abnormality of mitochondrial metabolism Hemiplegia EEG abnormality Ichthyosis Increased serum lactate Migraine Sensory impairment Sudden cardiac death Generalized myoclonic seizures Abnormal cerebellum morphology Muscle cramps Postural instability Coma Polymicrogyria Lactic acidosis Peripheral axonal neuropathy Vertigo Confusion Hip dysplasia Paresthesia Dysmetria Anal atresia Nausea and vomiting Congenital cataract Lethargy Pruritus Neurological speech impairment Attention deficit hyperactivity disorder Abnormality of the pinna Developmental regression Feeding difficulties in infancy Apnea Memory impairment Abnormality of the cardiovascular system Bilateral ptosis External ophthalmoplegia Hypercalciuria Decreased nerve conduction velocity Cachexia Atrioventricular block Chronic kidney disease Easy fatigability Hyperkinesis Schizophrenia Mutism Hypopigmented skin patches Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes Exercise intolerance Generalized-onset seizure EMG abnormality Truncal ataxia Cardiac arrest Clonus Cerebral visual impairment Gingival overgrowth Decreased body weight Hypertrichosis Hemiparesis Atrial fibrillation Ventricular hypertrophy Status epilepticus Nephrotic syndrome Maternal hypertension



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