Arthritis, and Gynecomastia

Diseases related with Arthritis and Gynecomastia

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


Top matches:

Medium match PACHYDERMOPERIOSTOSIS


Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy (see this term), a rare hereditary disorder, and is characterized by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes.

PACHYDERMOPERIOSTOSIS Is also known as touraine-solente-gole syndrome|pdp

Related symptoms:

  • Scoliosis
  • Ptosis
  • Anemia
  • Hepatomegaly
  • Edema


SOURCES: ORPHANET MENDELIAN

More info about PACHYDERMOPERIOSTOSIS

Low match NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM


NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM Is also known as isolated congenital gonadotropin deficiency|normosmic idiopathic hypogonadotropic hypogonadism|gonadotropic deficiency|nihh

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Depressed nasal bridge
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM

Low match ANE SYNDROME


ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.

ANE SYNDROME Is also known as ane syndrome|alopecia-progressive neurological defect-endocrinopathy syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ANE SYNDROME

Mendelian

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

Learn more

Other less relevant matches:

Low match SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1


Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.

SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1 Is also known as symptomatic form of hfe-related hereditary hemochromatosis|symptomatic form of classic hemochromatosis

Related symptoms:

  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1

Low match 46,XX OVOTESTICULAR DISORDER OF SEX DEVELOPMENT


46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.

46,XX OVOTESTICULAR DISORDER OF SEX DEVELOPMENT Is also known as 46,xx gonadal dysgenesis, complete, sry-positive|46,xx testicular disorder of sex development|46,xx ovotesticular dsd|xx male, sry-positive|46,xx sex reversal, sry-positive

Related symptoms:

  • Cryptorchidism
  • Hypospadias
  • Hypogonadism
  • Hypoplasia of penis
  • Ambiguous genitalia


SOURCES: ORPHANET OMIM MENDELIAN

More info about 46,XX OVOTESTICULAR DISORDER OF SEX DEVELOPMENT

Low match BREAST CANCER


Breast cancer (referring to mammary carcinoma, not mammary sarcoma) is histopathologically and almost certainly etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement.

BREAST CANCER Is also known as breast cancer, familial

Related symptoms:

  • Neoplasm
  • Pain
  • Carcinoma
  • Gynecomastia
  • Breast carcinoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about BREAST CANCER

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 HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23


Male patients with hypogonadotropic hypogonadism due to isolated luteinizing hormone (LH) deficiency have normal sexual differentiation but fail to develop spontaneous puberty. Absence of LH alters Leydig cell proliferation and maturation and impairs the onset of normal spermatogenesis, which requires high levels of intratesticular testosterone. Infertility and very low levels of spermatogenesis generally persist in affected men despite long-term exposure to gonadotropin therapy. Female patients exhibit normal pubertal development and menarche, followed by oligomenorrhea and anovulatory secondary amenorrhea (summary by Basciani et al., 2012).For a general phenotypic description and discussion of genetic heterogeneity of hypogonadotropic hypogonadism, see {147950}. ReviewsArnhold et al. (2009) noted that the clinical manifestations of female patients with hypogonadotropic hypogonadism due to mutations in LHB are very similar to those of women with hypergonadotropic hypogonadism due to inactivating mutations of the LH receptor (see {238320}): all have female external genitalia, spontaneous development of normal pubic hair and breasts at puberty, and normal to late menarche followed by oligoamenorrhea and infertility. Pelvic ultrasound shows a small or normal uterus and normal or enlarged ovaries with cysts. However, women with LHB mutations can be treated with luteinizing hormone or chorionic gonadotropin (CG ) replacement therapy; women with LH receptor mutations are resistant to LH, and no treatment is effective in recovering their fertility.

HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23 Is also known as fertile eunuch syndrome|pasqualini syndrome

Related symptoms:

  • Abnormality of metabolism/homeostasis
  • Hypogonadism
  • Micropenis
  • Infertility
  • Decreased testicular size


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23

Low match 46,XY DISORDER OF SEX DEVELOPMENT DUE TO 17-BETA-HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY


17-beta-hydroxysteroid dehydrogenase isozyme 3 (17betaHSD III) deficiency is a rare disorder leading to male pseudohermaphroditism (MPH), a condition characterized by incomplete differentiation of the male genitalia in 46X,Y males.

46,XY DISORDER OF SEX DEVELOPMENT DUE TO 17-BETA-HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY Is also known as 17-ketosteroidreductase deficiency|17-ketosteroid reductase deficiency of testis|pseudohermaphroditism, male, with gynecomastia|17-ketoreductase deficiency|17-ksr deficiency|neutral 17-beta-hydroxysteroid oxidoreductase deficiency|17-beta-hydroxysteroid d

Related symptoms:

  • Cryptorchidism
  • Abnormality of metabolism/homeostasis
  • Hypothyroidism
  • Infertility
  • Hirsutism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 46,XY DISORDER OF SEX DEVELOPMENT DUE TO 17-BETA-HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY

Low match NEUROGENIC SCAPULOPERONEAL SYNDROME, KAESER TYPE


NEUROGENIC SCAPULOPERONEAL SYNDROME, KAESER TYPE Is also known as scapuloperoneal syndrome, neurogenic type, of kaeser|stark-kaeser syndrome|kaeser syndrome

Related symptoms:

  • Skeletal muscle atrophy
  • Dysphagia
  • Talipes equinovarus
  • Facial palsy
  • Muscular dystrophy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NEUROGENIC SCAPULOPERONEAL SYNDROME, KAESER TYPE

Top 5 symptoms//phenotypes associated to Arthritis and Gynecomastia

Symptoms // Phenotype % cases
Hypogonadism Uncommon - Between 30% and 50% cases
Impotence Uncommon - Between 30% and 50% cases
Decreased serum testosterone level Uncommon - Between 30% and 50% cases
Hypogonadotrophic hypogonadism Uncommon - Between 30% and 50% cases
Osteoporosis Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Secondary amenorrhea

Rare Symptoms - Less than 30% cases


Skeletal muscle atrophy Hypothyroidism Eunuchoid habitus Ambiguous genitalia Alopecia Acne Polycystic ovaries Short stature Abnormality of metabolism/homeostasis Hyperpigmentation of the skin Infertility Amenorrhea Delayed puberty Hepatomegaly Splenomegaly Primary amenorrhea Arthralgia Decreased testicular size Neoplasm Limitation of joint mobility Micropenis Pain Abnormal scrotal rugation Ovotestis True hermaphroditism Urogenital sinus anomaly Carcinoma Abnormality of male internal genitalia Scoliosis Abnormality of female internal genitalia Exocrine pancreatic insufficiency Vertigo Cirrhosis Hepatic steatosis Ascites Cholestasis Joint dislocation Arthropathy Hepatocellular carcinoma Increased serum ferritin Abnormality of the uterus Chondrocalcinosis Abnormality of the hypothalamus-pituitary axis Hypospadias Hypoplasia of penis Scrotal hypoplasia Growth abnormality Bifid scrotum Decreased fertility Sex reversal Breast carcinoma Neoplasm of the breast Sarcoma Talipes equinovarus Hirsutism Congenital hypothyroidism Male pseudohermaphroditism Oligospermia Abnormality of the ovary Abnormality of the urethra Premature adrenarche Dysphagia Facial palsy Androgen insufficiency Muscular dystrophy Paraplegia Talipes Polyneuropathy Foot dorsiflexor weakness Shoulder girdle muscle atrophy Peroneal muscle atrophy Scapuloperoneal amyotrophy Testicular microlithiasis Abnormality of the Leydig cells Ovarian neoplasm Menstrual irregularities Prostate cancer Retinoblastoma Diabetes mellitus Soft tissue sarcoma Endometrial carcinoma Falls Accelerated skeletal maturation Precocious puberty Isosexual precocious puberty Decreased circulating luteinizing hormone level Breast hypertrophy Hypergonadotropic hypogonadism Oligomenorrhea Sparse axillary hair Sparse pubic hair Ovarian cyst Abnormal spermatogenesis Enlarged ovaries Retinopathy Reduced subcutaneous adipose tissue Congestive heart failure Eczematoid dermatitis Growth hormone excess Neoplasm of the lung Abnormal hair pattern Abnormal cortical bone morphology Seborrheic dermatitis Peptic ulcer Abnormal hair quantity Abnormality of bone marrow cell morphology Aseptic necrosis Cutis gyrata of scalp Clubbing of toes Impaired temperature sensation Hypertelorism Cleft palate Depressed nasal bridge Abnormality of the dentition Joint swelling Osteomyelitis Delayed skeletal maturation Palmoplantar keratoderma Anemia Edema Hyperhidrosis Coarse facial features Malabsorption Small hand Gastrointestinal hemorrhage Genu varum Thickened skin Abnormality of epiphysis morphology Bone pain Abnormality of the fingernails Osteolysis Neoplasm of the skin Cerebral palsy Depressivity Osteopenia Cardiomyopathy Motor deterioration Intellectual disability, severe Kyphoscoliosis Carious teeth Hypodontia Melanocytic nevus Adrenal insufficiency Ptosis Upper motor neuron dysfunction Microcephaly Adrenocorticotropic hormone deficiency Ulnar deviation of the hand Central adrenal insufficiency Ulnar deviation of the hand or of fingers of the hand Compensated hypothyroidism Peripheral neuropathy Fatigue Flexion contracture Intellectual disability Anxiety Generalized joint laxity Camptodactyly Wide intermamillary distance Azoospermia Abnormality of the voice Congenital sensorineural hearing impairment Hypoplasia of the uterus Sparse body hair Male hypogonadism Increased female libido Absence of secondary sex characteristics Breast hypoplasia Decreased testosterone in males Female hypogonadism Hypoplasia of the ovary Non-obstructive azoospermia Absence of pubertal development Abnormality of body height Scapuloperoneal weakness



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Palmoplantar keratoderma, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more