Autoimmunity, and Gynecomastia

Diseases related with Autoimmunity and Gynecomastia

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


Top matches:

Medium match HYPOINSULINEMIC HYPOGLYCEMIA AND BODY HEMIHYPERTROPHY


Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures.

Related symptoms:

  • Seizures
  • Hyperhidrosis
  • Hypoglycemia
  • Autoimmunity
  • Overgrowth


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOINSULINEMIC HYPOGLYCEMIA AND BODY HEMIHYPERTROPHY

Medium match COWDEN SYNDROME 5; CWS5


Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 5; CWS5

Medium match COWDEN SYNDROME 6; CWS6


Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 6; CWS6

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Other less relevant matches:

Medium 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

Medium match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

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 AROMATASE EXCESS SYNDROME


Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.

AROMATASE EXCESS SYNDROME Is also known as aexs|familial hyperestrogenism|hereditary prepubertal gynecomastia|aromatase activity, increased

Related symptoms:

  • Short stature
  • Neoplasm
  • Hypogonadism
  • Falls
  • Gynecomastia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AROMATASE EXCESS SYNDROME

Low match OBESITY DUE TO LEPTIN RECEPTOR GENE DEFICIENCY


Deficiency or dysfunction of the leptin receptor, which is associated with loss-of-function mutation(s) in the LEPR gene.

OBESITY DUE TO LEPTIN RECEPTOR GENE DEFICIENCY Is also known as obesity, morbid, nonsyndromic 2

Related symptoms:

  • Intellectual disability
  • Obesity
  • Hypogonadism
  • Aggressive behavior
  • Delayed puberty


SOURCES: ORPHANET OMIM MENDELIAN

More info about OBESITY DUE TO LEPTIN RECEPTOR GENE DEFICIENCY

Low match ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY


Congenital adrenal hyperplasia (CAH) results from a deficiency in one or another of the enzymes of cortisol biosynthesis. In about 95% of cases, 21-hydroxylation is impaired in the zona fasciculata of the adrenal cortex so that 17-hydroxyprogesterone (17-OHP) is not converted to 11-deoxycortisol. Because of defective cortisol synthesis, ACTH levels increase, resulting in overproduction and accumulation of cortisol precursors, particularly 17-OHP, proximal to the block. This causes excessive production of androgens, resulting in virilization.Slominski et al. (1996) presented evidence that the CYP21A2, CYP11A1 (OMIM ), CYP17 (OMIM ), and ACTHR (OMIM ) genes are expressed in skin (see {202200}). The authors suggested that expression of these genes may play a role in skin physiology and pathology and that cutaneous proopiomelanocortin activity may be autoregulated by a feedback mechanism involving glucocorticoids synthesized locally.

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY Is also known as cyp21 deficiency|21-hydroxylase deficiency|congenital adrenal hyperplasia 1|cah1|adrenal hyperplasia iii

Related symptoms:

  • Short stature
  • Neoplasm
  • Hypertension
  • Fever
  • Obesity


SOURCES: OMIM MENDELIAN

More info about ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY

Low match JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT


Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.

JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT Is also known as jeb-rr|jeb with respiratory and renal involvement|congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome|congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome|congenital ilneb syndrome|conge

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Muscular hypotonia
  • Fever
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT

Top 5 symptoms//phenotypes associated to Autoimmunity and Gynecomastia

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Goiter Uncommon - Between 30% and 50% cases
Ovarian cyst Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypothyroidism Narrow mouth Hypogonadism Neoplasm Short stature Hyperthyroidism Cataract Scoliosis Precocious puberty Hamartomatous polyposis Kyphosis Thyroiditis Hashimoto thyroiditis Meningioma Subcutaneous lipoma Hydrocele testis Furrowed tongue Breast carcinoma Colonic diverticula Angioid streaks of the fundus Thyroid adenoma Varicocele Progressive macrocephaly Transitional cell carcinoma of the bladder Fibroadenoma of the breast Accelerated skeletal maturation Infertility Hirsutism Palmoplantar hyperkeratosis Skin tags Intention tremor High palate Abnormality of the cardiovascular system Obesity Micrognathia Acne Myopia Hypoplasia of the maxilla Pectus excavatum Intellectual disability, mild

Rare Symptoms - Less than 30% cases


Abnormality of the thyroid gland Menstrual irregularities Astrocytoma Pain Hyperhidrosis Failure to thrive Hypertelorism Ataxia Global developmental delay Hyperinsulinemia Precocious puberty in females Abnormal spermatogenesis Fever Multinodular goiter Pituitary hypothyroidism Prolactin excess Delayed puberty Decreased proportion of CD4-positive T cells Decreased glomerular filtration rate Delayed speech and language development Cognitive impairment Recurrent urinary tract infections Autism Carcinoma Abnormality of the kidney Insulin-resistant diabetes mellitus Recurrent respiratory infections Pneumonia Chronic diarrhea Renal insufficiency Polycystic ovaries Respiratory distress Tubular atrophy Hypertension Dilatation Polyphagia Proteinuria Motor delay Lipoma Respiratory tract infection Intestinal polyposis Adrenal insufficiency Recurrent pneumonia Decreased liver function Hypertriglyceridemia Cafe-au-lait spot Truncal obesity Primary amenorrhea Amenorrhea Congestive heart failure Nephrocalcinosis Vomiting Blindness Round face Growth hormone deficiency Decreased testicular size Hypergonadotropic hypogonadism Overgrowth Abdominal distention Cyanosis Neoplasm of the skin Hyperostosis Elevated alkaline phosphatase Hypoglycemia Decreased HDL cholesterol concentration Posterior subcapsular cataract Pendular nystagmus Gingivitis Ketoacidosis Hyperpigmentation of the skin Testicular atrophy Sinusitis Broad foot Tubulointerstitial fibrosis Abnormal left ventricle morphology Short toe Oligomenorrhea Poor coordination Hyperventilation Alopecia of scalp Esophageal varix Peripheral visual field loss Retinal atrophy Tubulointerstitial nephritis Attenuation of retinal blood vessels Chronic fatigue Abnormality of retinal pigmentation Anorexia Abnormal renal morphology Myocardial fibrosis Male hypogonadism Endocardial fibroelastosis Retinal pigment epithelial atrophy Oligospermia Disinhibition Myocarditis Hepatic fibrosis Insulin resistance Chronic obstructive pulmonary disease Recurrent bronchitis Abnormal renal physiology Acute hepatic failure Elevated serum creatinine High-frequency hearing impairment Right ventricular hypertrophy Restrictive cardiomyopathy Increased number of teeth Horizontal nystagmus Obsessive-compulsive behavior Polyuria Atherosclerosis Glucose intolerance Diabetes insipidus Hyperglycemia Impaired vibratory sensation Hyperlipidemia Constriction of peripheral visual field Aplasia/Hypoplasia of the cerebellum Arteriosclerosis Macular degeneration Chronic otitis media Nephritis Pancreatitis Polydipsia Portal hypertension Lipodystrophy Hypercholesterolemia Cholelithiasis Tachypnea Abnormality of the hand Acanthosis nigricans Emphysema Hypoventilation Glomerulopathy Severe sensorineural hearing impairment Autoimmune thrombocytopenia Thoracic scoliosis Pericarditis Subcapsular cataract Cone/cone-rod dystrophy Hyperuricemia Bronchitis Increased body weight Glycosuria Generalized hirsutism Absence seizures Progressive sensorineural hearing impairment Agenesis of permanent teeth Short finger Chorioretinal atrophy Pericardial effusion Abnormal retinal morphology Urinary urgency Hydroureter Pulmonary fibrosis Hypogonadotrophic hypogonadism Elevated C-reactive protein level Childhood-onset truncal obesity Urinary retention Decreased T cell activation Renal salt wasting Adrenal hyperplasia Decreased fertility Clitoral hypertrophy Abnormality of the thorax Sarcoma Growth abnormality Azoospermia Ambiguous genitalia Osteopenia Hypospadias Abnormal hypothalamus morphology Decreased serum leptin Congenital adrenal hyperplasia Hypoplasia of the ovary Orthostatic hypotension due to autonomic dysfunction Decreased testosterone in males Absence of secondary sex characteristics Decreased serum estradiol Immune dysregulation Emotional lability Impulsivity Recurrent upper respiratory tract infections Aggressive behavior Breast hypertrophy Isosexual precocious puberty Abnormality of the ovary Adrenogenital syndrome Falls Abnormal lung morphology Respiratory acidosis Crossed fused renal ectopia Onycholysis Fragile skin Interstitial pulmonary abnormality Ectopic kidney Focal segmental glomerulosclerosis Neonatal respiratory distress Glomerulosclerosis Hypoalbuminemia Sparse eyelashes Sparse and thin eyebrow Sparse scalp hair Adrenocortical carcinoma Fine hair Nephrotic syndrome Abnormal blistering of the skin Narrow chest Nail dystrophy Erythema Macrotia Prominent forehead Muscular hypotonia Microcephaly Reduced amygdala volume Premature pubarche Decreased serum testosterone level Abnormality of the femoral head Poor fine motor coordination First degree atrioventricular block Albuminuria Abnormal muscle tone Female hypogonadism Impaired temperature sensation Urethral stricture Abnormal chorioretinal morphology Epigastric pain Abnormality of dental color Lumbar scoliosis Abnormality of the urethra Chronic infection Abnormality of the optic disc Melena Squared iliac bones Hematemesis Frontal balding Increased total bilirubin Vertical nystagmus Bull's eye maculopathy Abnormality of female external genitalia Hepatic encephalopathy Urethral stenosis Achromatopsia Acute pancreatitis Chills Pyelonephritis Renovascular hypertension Urethral obstruction Vitreous haze Receptive language delay Localized hirsutism Abnormality of renal calyx morphology Abnormality of prothrombin EEG with occipital slowing Abnormal retinal artery morphology Widely-spaced incisors Recurrent cystitis Glue ear Unilateral breast hypoplasia Dilatation of the bladder Thickened ears Granular macular appearance Hyperostosis frontalis interna Abnormality of the pituitary gland Chronic active hepatitis Abnormal adipose tissue morphology Nonproductive cough Exudative retinopathy Increased circulating androgen level High-frequency sensorineural hearing impairment Multifocal atrial tachycardia ST segment depression Facial hirsutism Chronic hepatic failure Hepatic necrosis Hypoplastic male external genitalia Thickened skin Abnormality of the liver Left ventricular hypertrophy Palmoplantar keratoderma Drooling Cranial nerve paralysis Lymphopenia Exotropia Telangiectasia Subcutaneous nodule Broad thumb Decreased antibody level in blood Lymphoma Macroglossia Abnormal cerebellum morphology Polymicrogyria Increased intracranial pressure Joint hypermobility Nausea and vomiting Papule Leukemia Intellectual disability, moderate Proximal muscle weakness Recurrent infections Headache Immunodeficiency Diarrhea Myopathy Hemangioma Hypopigmented skin patches Hydrocephalus Ovarian neoplasm Long penis Cellular immunodeficiency Bone cyst Abnormality of the uterus Arteriovenous malformation Megalencephaly Papilledema Abnormality of the vasculature Scaphocephaly Renal cell carcinoma Hodgkin lymphoma Hamartoma Melanoma Acute myeloid leukemia Multiple cafe-au-lait spots Cellulitis Cystic hygroma Multiple lipomas Macule Cutis marmorata Melanocytic nevus Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Incoordination Atrial septal defect Frontal bossing Enlarged polycystic ovaries Enlarged tonsils Aspiration Tall stature Nephrolithiasis Nevus Facial asymmetry Synophrys Hyperactivity Depressed nasal bridge Abnormal facial shape Abnormal circulating insulin level Increased circulating free fatty acid level Increased hepatic glycogen content Hypercalcemia Follicular hyperplasia Hypoglycemic coma Nonketotic hypoglycemia Hypoglycemic seizures Hypoketotic hypoglycemia Recurrent hypoglycemia Hemihypertrophy Flushing Neonatal hypoglycemia Large for gestational age Generalized-onset seizure Hypercalciuria Rickets Tremor Axillary freckling Downslanted palpebral fissures Macrocephaly Skeletal muscle atrophy Brachydactyly Low-set ears Muscle weakness Generalized hypotonia Monostotic fibrous dysplasia Large cafe-au-lait macules with irregular margins Polyostotic fibrous dysplasia Thyroid nodule Myelofibrosis Hypophosphatemia Pseudohypoparathyroidism Craniofacial hyperostosis Osteosarcoma Pituitary adenoma Increased circulating cortisol level Syringomyelia Growth hormone excess Osteomalacia Hyperparathyroidism Freckling Pathologic fracture Neurofibromas Cavernous hemangioma Papilloma Involuntary movements Autistic behavior Pulmonic stenosis Ophthalmoplegia Hypermetropia Hypotrichosis Generalized tonic-clonic seizures Dilated cardiomyopathy Cough Nyctalopia Retinopathy Scarring Sparse hair Pallor Dry skin Postnatal growth retardation Irritability Myalgia Conductive hearing impairment Elevated hepatic transaminase Deeply set eye Photophobia Jaundice Hepatosplenomegaly Pes planus Kyphoscoliosis Carious teeth Retinal degeneration Dyspnea Gastrointestinal hemorrhage Recurrent otitis media Pulmonary arterial hypertension Epidermal acanthosis Type II diabetes mellitus Cardiomegaly Optic disc pallor Hepatitis Pigmentary retinopathy Specific learning disability Progressive visual loss Otitis media Urinary incontinence Lymphadenopathy Vesicoureteral reflux Asthma Ascites Sleep disturbance Nephropathy Hepatic steatosis Retinal dystrophy Hepatic failure Tachycardia Cirrhosis Nausea Stage 5 chronic kidney disease Gastroesophageal reflux Weight loss Fibroma Neoplasm of the thyroid gland Nystagmus Growth delay Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Acrokeratosis Sensorineural hearing impairment Mucosal telangiectasiae Pseudopapilledema Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Intestinal polyp Ovarian carcinoma Abnormality of the penis Adenoma sebaceum Neoplasm of the central nervous system Generalized hyperkeratosis Strabismus Feeding difficulties Hyperkeratosis Clinodactyly Respiratory failure Polydactyly Abdominal pain Diabetes mellitus Myoclonus Rod-cone dystrophy Alopecia Constipation Hyporeflexia Patent ductus arteriosus Visual loss Encephalopathy Visual impairment Depressivity Splenomegaly Dystonia Behavioral abnormality Abnormality of the dentition Cardiomyopathy Short neck Respiratory insufficiency Fatigue Optic atrophy Hepatomegaly Peripheral neuropathy Junctional split



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