Anemia, and Gynecomastia

Diseases related with Anemia and Gynecomastia

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


Top matches:

Medium match PEUTZ-JEGHERS SYNDROME; PJS


Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms.

PEUTZ-JEGHERS SYNDROME; PJS Is also known as polyps-and-spots syndrome|polyposis, hamartomatous intestinal

Related symptoms:

  • Neoplasm
  • Hypertension
  • Edema
  • Diarrhea
  • Headache


SOURCES: OMIM MENDELIAN

More info about PEUTZ-JEGHERS SYNDROME; PJS

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 INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

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Other less relevant matches:

Low match H SYNDROME


H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

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

Top 5 symptoms//phenotypes associated to Anemia and Gynecomastia

Symptoms // Phenotype % cases
Neoplasm Uncommon - Between 30% and 50% cases
Hypogonadism Uncommon - Between 30% and 50% cases
Edema Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Hypothyroidism Osteolysis Amenorrhea Hypergonadotropic hypogonadism Decreased serum testosterone level

Rare Symptoms - Less than 30% cases


Malabsorption Plagiocephaly Polycystic ovaries Osteoporosis Micropenis Hepatomegaly Scoliosis Ambiguous genitalia Conductive hearing impairment Thickened skin Acne Decreased testicular size Neoplasm of the breast Global developmental delay Generalized hypotonia Hearing impairment Primary amenorrhea Flexion contracture Diabetes mellitus Anteverted nares Hydrocephalus Congenital hypothyroidism Splenomegaly Intellectual disability, mild Infertility Melanocytic nevus Psoriasiform dermatitis Growth abnormality Breast carcinoma Accelerated skeletal maturation Ovarian neoplasm Nevus Abnormality of the kidney Impotence Hypogonadotrophic hypogonadism Carcinoma Secondary amenorrhea Ovarian cyst Hyperhidrosis Abnormality of metabolism/homeostasis Hyperpigmentation of the skin Lipodystrophy Sleep apnea Overgrowth Mitral valve prolapse Bilateral sensorineural hearing impairment Cardiomegaly Epidermal acanthosis Epistaxis Blue sclerae Epicanthus Hypertriglyceridemia Azoospermia Type I diabetes mellitus Sensorineural hearing impairment Gingival overgrowth Calcification of the auricular cartilage Elbow flexion contracture Hypertrichosis Failure to thrive Superiorly displaced ears Bronchiectasis Growth hormone deficiency Aspiration Growth delay Hypertelorism Telangiectasia Wide intermamillary distance Clinodactyly Full cheeks Proptosis Apnea Camptodactyly Low-set, posteriorly rotated ears Hepatosplenomegaly Pes planus Dyspnea Hyperkeratosis Stridor Posteriorly rotated ears Severe short stature Pneumonia Alopecia Hernia Delayed skeletal maturation Abnormal heart morphology Atrial septal defect Ventriculomegaly Recurrent fractures Abnormality of the foot Polyneuropathy Patent ductus arteriosus Flat face Cleft upper lip Ichthyosis Brachydactyly Lymphadenopathy Delayed puberty Abnormal cardiac septum morphology Wide nasal bridge Hypotrichosis Pectus carinatum Retinopathy Fever Frontal bossing Ventricular septal defect Hyperreflexia Communicating hydrocephalus Hyperglycemia Abnormality of male internal genitalia Endometrial carcinoma Soft tissue sarcoma Retinoblastoma Prostate cancer Sarcoma Pain Abnormal scrotal rugation True hermaphroditism Precocious puberty Ovotestis Urogenital sinus anomaly Abnormality of female internal genitalia Abnormality of the uterus Sex reversal Decreased fertility Bifid scrotum Falls Menstrual irregularities Hypoplasia of penis Abnormality of the Leydig cells Abnormality of the urethra Abnormality of the ovary Oligospermia Male pseudohermaphroditism Hirsutism Testicular microlithiasis Androgen insufficiency Decreased circulating luteinizing hormone level Isosexual precocious puberty Enlarged ovaries Eunuchoid habitus Abnormal spermatogenesis Sparse pubic hair Sparse axillary hair Oligomenorrhea Breast hypertrophy Scrotal hypoplasia Hypospadias Leukocytosis Severe sensorineural hearing impairment Recurrent pharyngitis Absent facial hair Varicose veins Aspiration pneumonia Abnormal eyebrow morphology Enlarged kidney Exocrine pancreatic insufficiency Episodic fever Skin nodule Polycythemia Scleroderma Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Hallux valgus Nasal obstruction Histiocytosis Seborrheic keratosis Panniculitis Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Cervical lymphadenopathy Stiff skin Snoring Episcleritis Facial telangiectasia Reticulocytopenia Myelofibrosis Generalized lymphadenopathy Corneal arcus Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Chronic rhinitis Increased size of the mandible Restlessness Posterior scalloping of vertebral bodies Abnormality of the fingernails Growth hormone excess Joint swelling Aseptic necrosis Osteomyelitis Genu varum Cerebral palsy Neoplasm of the skin Bone pain Abnormal hair pattern Abnormality of epiphysis morphology Gastrointestinal hemorrhage Limitation of joint mobility Palmoplantar keratoderma Small hand Arthritis Coarse facial features Neoplasm of the lung Abnormal cortical bone morphology Precocious puberty with Sertoli cell tumor Seizures Macrocephaly Skeletal muscle atrophy Peripheral neuropathy Cataract Abnormal facial shape Micrognathia Ataxia Intellectual disability Seborrheic dermatitis Impaired temperature sensation Clubbing of toes Cutis gyrata of scalp Abnormality of bone marrow cell morphology Eczematoid dermatitis Abnormal hair quantity Peptic ulcer Arthralgia Endolymphatic sac tumor Gait disturbance Intestinal obstruction Vitiligo Renal cell carcinoma Abnormality of the ureter Iron deficiency anemia Hamartoma Macule Hypermelanotic macule Clubbing Neoplasm of the pancreas Polycystic kidney dysplasia Hemangioma Abdominal distention Abdominal pain Dilatation Headache Diarrhea Abnormality of the mouth Clubbing of fingers Congenital shortened small intestine Bloody diarrhea Thyroid nodule Uterine neoplasm Gastrointestinal carcinoma Clear cell renal cell carcinoma Intussusception Intestinal polyp Testicular neoplasm Thrombophlebitis Multiple myeloma Hematemesis Intestinal bleeding Hamartomatous polyposis Nasal polyposis Rectal prolapse Biliary tract abnormality Pancreatic cysts Intestinal polyposis Downslanted palpebral fissures Abnormality of the skeletal system Torus palatinus Bilateral cryptorchidism Sparse body hair Basal ganglia calcification Ankle clonus Mixed hearing impairment Truncal obesity Anonychia Metatarsus adductus Self-injurious behavior Striae distensae Schizophrenia Abnormal palate morphology Spastic paraparesis Knee flexion contracture Paraparesis Clonus Abnormal form of the vertebral bodies Hip contracture Hypertension Thick lower lip vermilion Recurrent ear infections Motor tics Basilar impression Absent axillary hair Posterior polar cataract Abnormal glucose tolerance Narrow iliac wings Ectopic calcification Bone cyst Insulin-resistant diabetes mellitus Generalized osteoporosis Tics Dystrophic fingernails Broad face Progressive gait ataxia Thoracic kyphosis Poor coordination Irregular vertebral endplates Sparse scalp hair Bradykinesia Hypoplasia of the corpus callosum Pectus excavatum Autism Gait ataxia Brachycephaly Pes cavus Agenesis of corpus callosum Babinski sign Areflexia Midface retrusion Macrotia Microphthalmia Malar flattening Kyphosis Behavioral abnormality Hypertonia Myopathy Intellectual disability, severe Narrow mouth Osteopenia Cerebral calcification Genu valgum Hip dysplasia Otitis media Hypoplasia of the maxilla Neurodegeneration Downturned corners of mouth Short distal phalanx of finger Distal amyotrophy Narrow chest Deeply set eye Synophrys Congenital cataract Broad forehead Prominent nasal bridge Abnormal pyramidal sign Protruding ear Developmental regression Aggressive behavior Premature adrenarche



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Hypotension, related diseases and genetic alterations Myopathy and Diarrhea, related diseases and genetic alterations Skeletal muscle atrophy and Skin rash, related diseases and genetic alterations Failure to thrive and Primary amenorrhea, related diseases and genetic alterations Hypertelorism and Spina bifida, related diseases and genetic alterations

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