Edema, and Amenorrhea

Diseases related with Edema and Amenorrhea

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

Top matches:

DENYS-DRASH SYNDROME; DDS Is also known as nephropathy, wilms tumor, and genital anomalies|drash syndrome|wilms tumor and pseudo- or true hermaphroditism

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about DENYS-DRASH SYNDROME; DDS

McKusick-Kaufman syndrome is an autosomal recessive disorder characterized by genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations (summary by Schaefer et al., 2011).

MCKUSICK-KAUFMAN SYNDROME; MKKS Is also known as hydrometrocolpos syndrome|kaufman-mckusick syndrome|hmcs|hydrometrocolpos, postaxial polydactyly, and congenital heart malformation

Related symptoms:

  • Cryptorchidism
  • Abnormality of the skeletal system
  • Respiratory distress
  • Edema
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME; MKKS

Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

Other less relevant matches:

ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS; see this term) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS (see this term).

CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA Is also known as cushing disease, pituitary|primary bilateral macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA

Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe|hemochromatosis, hereditary|hemochromatosis|hh

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 1; HFE1

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

Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).PEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes (Lamantea et al., 2002). Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA DeletionsSee also PEOA2 (OMIM ), caused by mutation in the ANT1 gene (SLC25A4 ) on chromosome 4q34; PEOA3 (OMIM ), caused by mutation in the twinkle gene (C10ORF2 ) on chromosome 10q24; PEOA4 (OMIM ), caused by mutation in the POLG2 gene (OMIM ) on chromosome 17q; PEOA5 (OMIM ), caused by mutation in the RRM2B gene (OMIM ) on chromosome 8q23; and PEOA6 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q.

AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as progressive external ophthalmoplegia, autosomal dominant 1|adpeo

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.

COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS Is also known as multiple pituitary hormone deficiencies, genetic forms|familial congenital hypopituitarism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS

Low match GAPO SYNDROME

GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations

GAPO SYNDROME Is also known as growth delay-alopecia-pseudoanodontia-optic atrophy syndrome|odontotrichomelic syndrome|growth retardation, alopecia, pseudoanodontia, and optic atrophy

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about GAPO SYNDROME

Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (OMIM ), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010).The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity.Sotos syndrome (OMIM ), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (OMIM ) on chromosome 5q35.

WEAVER SYNDROME; WVS Is also known as weaver-smith syndrome|wss

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about WEAVER SYNDROME; WVS

Top 5 symptoms//phenotypes associated to Edema and Amenorrhea

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hypogonadism Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Primary amenorrhea Uncommon - Between 30% and 50% cases
Hypogonadotrophic hypogonadism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Amenorrhea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Fatigue Alopecia Diabetes mellitus Seizures Hypertelorism Neoplasm Micropenis Depressed nasal bridge Cryptorchidism Generalized hypotonia Choanal atresia Sensorineural hearing impairment Dysarthria Osteopenia Frontal bossing Delayed skeletal maturation Arrhythmia Osteoporosis Hypothyroidism Visual impairment Hernia Delayed puberty Midface retrusion

Rare Symptoms - Less than 30% cases

Skeletal muscle atrophy Abnormality of the pinna Micrognathia Moon facies Long philtrum Hyperhidrosis Mandibular prognathia Umbilical hernia Inguinal hernia Pes cavus Nephrolithiasis Glucose intolerance Constipation Cleft lip Round face Dental malocclusion Secondary amenorrhea Failure to thrive Muscle weakness Hypertonia Depressivity Kyphosis Ataxia Ascites Pain Sparse hair Premature ovarian insufficiency Hypergonadotropic hypogonadism Fine hair Abnormality of extrapyramidal motor function Short stature Decreased testicular size Growth delay Strabismus Muscular hypotonia Sensory neuropathy Flat occiput Hypotrichosis Anteverted nares Camptodactyly Elevated hepatic transaminase High forehead Prominent forehead Gait disturbance Downslanted palpebral fissures Peripheral neuropathy Delayed speech and language development Cognitive impairment High palate Testicular atrophy Hoarse voice Absent septum pellucidum Sparse eyebrow Dilated cardiomyopathy Abnormality of the liver Scoliosis Broad forehead Low-set ears Streak ovary Lymphedema Abdominal distention Recurrent infections Gonadal dysgenesis Polydactyly Respiratory insufficiency Hypertension Hypospadias Cleft palate Nystagmus Obesity Lethargy Cataract Hypoglycemia Teratoma Hypotension Poor fine motor coordination Malar flattening Calcaneovalgus deformity Short nose Thoracolumbar kyphosis Intellectual disability, severe Thin nail Depressed nasal ridge Dimple chin Galactorrhea Prominent fingertip pads Short fourth metatarsal Vertebral wedging Aspiration Horizontal eyebrow Deep-set nails Focal white matter lesions Patent ductus arteriosus Pneumonia Jaundice Hypoplastic iliac wing Acute lymphoblastic leukemia Prolactin excess Deeply set eye Down-sloping shoulders Abnormality of the eye Diastasis recti Severe global developmental delay Pulmonic stenosis Infertility Agenesis of corpus callosum Macroglossia Polyhydramnios Hydrocele testis Quadriceps muscle weakness Broad face Dilation of lateral ventricles Inverted nipples Broad philtrum Growth hormone deficiency Large earlobe Subsarcolemmal accumulations of abnormally shaped mitochondria Sacrococcygeal teratoma Dysphonia Flared humeral metaphysis Rhabdomyolysis Exertional dyspnea Resting tremor Hypokinesia Difficulty climbing stairs Sensory axonal neuropathy Increased variability in muscle fiber diameter Ophthalmoparesis Abnormality of mitochondrial metabolism Easy fatigability Bipolar affective disorder Goiter Ventricular arrhythmia EMG: myopathic abnormalities Ragged-red muscle fibers External ophthalmoplegia Exercise intolerance Sensorimotor neuropathy Cerebral visual impairment Progressive muscle weakness Left ventricular hypertrophy Frequent falls Hyperthyroidism Progressive external ophthalmoplegia Progressive ophthalmoplegia Muscle fiber necrosis Holoprosencephaly Acute rhabdomyolysis Multiple mitochondrial DNA deletions Lumbar kyphosis Impaired distal proprioception Nocturia Flared femoral metaphysis Limited knee extension Impaired distal vibration sensation Cytochrome C oxidase-negative muscle fibers Gastroparesis Mitochondrial myopathy Cogwheel rigidity Parkinsonism with favorable response to dopaminergic medication Abnormally low-pitched voice Abnormality of the mitochondrion Skeletal myopathy Absent Achilles reflex Reduced ejection fraction Shoulder girdle muscle weakness Hypomimic face Facial diplegia Ketosis Limited elbow extension Hypoplastic left heart Optic nerve hypoplasia Lymphoma Underdeveloped supraorbital ridges Ectrodactyly Hypoplastic nipples Prematurely aged appearance Keratoconus Abnormality of the thorax Hyperextensible skin Leukemia Platyspondyly Talipes Nail dysplasia Abnormality of the clavicle Overgrowth Hypertrichosis Pachygyria Broad thumb Tall stature Abnormality of pelvic girdle bone morphology Hypopigmented skin patches Joint contracture of the hand Increased intracranial pressure Short ribs Hemangioma Palpebral edema Skin tags Abnormal palate morphology Early balding Macrocephaly Epicanthus Talipes equinovarus Behavioral abnormality Clinodactyly Macrotia Flexion contracture Spasticity Abnormal facial shape Global developmental delay Retrognathia Hypoplastic areola Decreased skull ossification Tetraamelia Neonatal hypotonia Dysmenorrhea Joint laxity Asymmetry of the thorax Thick nasal alae Fingernail dysplasia Nasolacrimal duct obstruction Abnormality of the cerebral vasculature Abnormality of the neck Oligospermia Abnormality of the outer ear Atherosclerosis Adrenal insufficiency Anterior pituitary hypoplasia Decreased cervical spine mobility Abnormal prolactin level Pituitary dwarfism Aplasia/Hypoplasia of the breasts Septo-optic dysplasia Ectopic posterior pituitary Decreased circulating ACTH level Metatarsus adductus Overlapping toe Median cleft lip and palate Absence of secondary sex characteristics Osteoporosis of vertebrae Large for gestational age Pituitary hypothyroidism Concave nasal ridge Short attention span Aspiration pneumonia Severe postnatal growth retardation Hypopituitarism Bilateral talipes equinovarus Prolonged neonatal jaundice Abnormality of digit Delayed cranial suture closure Abnormality of secondary sexual hair Radial deviation of finger Sparse eyelashes Pointed chin Aminoaciduria Sparse and thin eyebrow Abnormality of the metaphysis Abnormal form of the vertebral bodies Small nail Ectodermal dysplasia Delayed eruption of teeth Everted lower lip vermilion Cleft upper lip Joint hyperflexibility Atrial fibrillation EEG abnormality Anterior pituitary agenesis Coxa valga Accelerated skeletal maturation Glaucoma Cutis laxa Slurred speech Abnormality of the dentition Optic atrophy Back pain Myopia Large hands Ectopic anterior pituitary gland Palpitations Decreased serum testosterone level Bradykinesia Broad nasal tip Lacrimation abnormality Hyposmia Hypoplastic labia majora Agenesis of permanent teeth Preauricular pit Anophthalmia Limb-girdle muscular dystrophy Reduced number of teeth Anosmia Scrotal hypoplasia Encephalocele Hypoplasia of the maxilla Diastema Iris coloboma Synophrys Muscular dystrophy Corneal opacity Coloboma Microphthalmia Hydrocolpos Pelvic mass Vesicovaginal fistula Prominent scrotal raphe Mesoaxial hand polydactyly Hypoplasia of teeth Lacrimal duct stenosis Hydrometrocolpos Hyperparathyroidism Biconcave vertebral bodies Abdominal obesity Poor wound healing Ecchymosis Vertebral compression fractures Alkalosis Pituitary adenoma Meningioma Oligomenorrhea Increased circulating cortisol level Striae distensae Truncal obesity Abnormality of the sense of smell Acne Emotional lability Hypokalemia Generalized hirsutism Increased body weight Thin skin Hirsutism Bruising susceptibility Absent paranasal sinuses Aplasia of the nose Frontal encephalocele Aplasia/Hypoplasia involving the nose Transverse vaginal septum Penoscrotal hypospadias Increased circulating ACTH level Glomerulosclerosis Ambiguous genitalia, female Diffuse mesangial sclerosis Ambiguous genitalia, male Abnormal renal physiology Gonadoblastoma Male pseudohermaphroditism Aniridia Glomerulopathy Focal segmental glomerulosclerosis Nephroblastoma Glomerulonephritis Abnormality of the genital system Low-grade fever Nephrotic syndrome Congenital diaphragmatic hernia Ambiguous genitalia Nephropathy Stage 5 chronic kidney disease Pallor Abnormality of the kidney Proteinuria Weight loss Renal insufficiency Fever Uterus didelphys Anuria Chordee Aganglionic megacolon Vaginal atresia Rectovaginal fistula Nonimmune hydrops fetalis Edema of the lower limbs Esophageal atresia Hydroureter Tracheoesophageal fistula Polycystic kidney dysplasia Congenital hip dislocation Abnormal vertebral morphology Hydrops fetalis Postaxial hand polydactyly True hermaphroditism Tetralogy of Fallot Postaxial polydactyly Pulmonary hypoplasia Anal atresia Hydronephrosis Rod-cone dystrophy Abnormality of cardiovascular system morphology Syndactyly Respiratory distress Abnormality of the skeletal system Gonadal tissue inappropriate for external genitalia or chromosomal sex Ovarian gonadoblastoma Facial erythema Abnormality of the menstrual cycle Pigmentary retinopathy Aplasia/Hypoplasia of the eyebrow Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Increased thyroid-stimulating hormone level Abnormal spermatogenesis Abnormal T-wave Decreased serum estradiol Anodontia Heart block Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Hypoplasia of the uterus Hyperlipidemia Progressive alopecia Purpura Hallucinations Choreoathetosis Sparse scalp hair Myocardial infarction Psychosis Bilateral sensorineural hearing impairment Dehydration Prominent nose Triangular face Polyneuropathy Hypoplasia of the fallopian tube Ptosis Arthrogryposis multiplex congenita Retinopathy Increased serum lactate Migraine Parkinsonism Muscle cramps Coma Lactic acidosis Peripheral axonal neuropathy Abnormality of eye movement Limb muscle weakness Congenital cataract Ophthalmoplegia Facial palsy Tremor Anxiety Myalgia Proximal muscle weakness Rigidity Gastroesophageal reflux Acidosis Gait ataxia Elevated serum creatine phosphokinase Hyporeflexia Cerebellar atrophy Myopathy Dysphagia Abnormality of movement Prominent nasal bridge Peripheral edema Abdominal pain Hepatic fibrosis Hyperpigmentation of the skin Telangiectasia Cardiomegaly Hepatitis Hepatic steatosis Hepatic failure Cirrhosis Arthritis Carcinoma Arthralgia Splenomegaly Azoospermia Congestive heart failure Cardiomyopathy Hepatomegaly Anemia Psychotic mentation Abnormal fear/anxiety-related behavior Macronodular adrenal hyperplasia Dorsocervical fat pad Adrenocorticotropic hormone excess Menometrorrhagia Mood changes Insulin resistance Pleural effusion Protruding ear Increased serum iron Mental deterioration Babinski sign Abnormality of metabolism/homeostasis Intellectual disability, mild Dystonia Diarrhea Hyperreflexia Elevated transferrin saturation Aceruloplasminemia Constrictive pericarditis Cholangiocarcinoma Microvesicular hepatic steatosis Impotence Abnormal glucose tolerance Alcoholism Restrictive cardiomyopathy Neoplasm of the liver Acute hepatic failure Increased reactive oxygen species production Increased serum ferritin Hepatocellular carcinoma Pericarditis Osteomalacia Arthropathy Abnormal joint morphology Dysharmonic bone age


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