Edema, and Increased body weight

Diseases related with Edema and Increased body weight

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

Top matches:

ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8; IIAE8 Is also known as herpes simplex encephalitis, susceptibility to, 6

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Fever
  • Edema
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8; IIAE8

Steroid-resistant nephrotic syndrome type 2 is an autosomal recessive disorder characterized clinically by childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades (summary by Fuchshuber et al., 1996). Some patients show later onset of the disorder (Tsukaguchi et al., 2002).For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

NEPHROTIC SYNDROME, TYPE 2; NPHS2 Is also known as nephrotic syndrome, steroid-resistant, autosomal recessive|srn1

Related symptoms:

  • Anemia
  • Edema
  • Renal insufficiency
  • Obesity
  • Proteinuria


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEPHROTIC SYNDROME, TYPE 2; NPHS2

X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE Is also known as shashi x-linked mental retardation syndrome|syndromic x-linked intellectual disability type 11|smrxs|mental retardation, x-linked, shashi type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Delayed speech and language development


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE

Other less relevant matches:

Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney.

RENAL PSEUDOHYPOALDOSTERONISM TYPE 1 Is also known as autosomal dominant pseudohypoaldosteronism type 1|pha i, autosomal dominant

Related symptoms:

  • Short stature
  • Failure to thrive
  • Feeding difficulties
  • Vomiting
  • Diarrhea


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL PSEUDOHYPOALDOSTERONISM TYPE 1

Related symptoms:

  • Scoliosis
  • Delayed speech and language development
  • Abnormality of the skeletal system
  • Edema
  • Blindness


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 71; RP71

Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Adult-onset type II citrullinemia is an autosomal recessive metabolic disorder characterized clinically by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia. In some cases, rapid progression can lead to brain edema and death if liver transplantation is not possible. Some patients may present with nonalcoholic hepatic steatosis or may develop hepatic fibrosis or hepatocellular carcinoma. Patients with this disorder have a natural aversion to carbohydrates and favor protein, which is in contrast to protein aversion usually observed in patients with urea cycle defects (summary by Komatsu et al., 2008).

CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2 Is also known as citrin deficiency

Related symptoms:

  • Seizures
  • Tremor
  • Edema
  • Vomiting
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2

Mitochondrial DNA depletion syndrome-6 is an autosomal recessive disorder characterized by infantile onset of progressive liver failure, often leading to death in the first year of life. Those that survive develop progressive neurologic involvement, including ataxia, hypotonia, dystonia, and psychomotor regression (Spinazzola et al., 2008).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

NAVAJO NEUROHEPATOPATHY Is also known as nnh|navajo neurohepatopathy|nn|navajo neuropathy

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NAVAJO NEUROHEPATOPATHY

Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

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

Top 5 symptoms//phenotypes associated to Edema and Increased body weight

Symptoms // Phenotype % cases
Obesity Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Elevated hepatic transaminase Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Increased body weight. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Short stature Failure to thrive Hepatic steatosis Polydactyly Abnormality of the skeletal system Rod-cone dystrophy Hypoalbuminemia Pancreatitis Lymphedema Decreased liver function Cholestasis Delayed speech and language development Abnormality of the liver Confusion Lethargy Cerebral edema Hydroureter Hyporeflexia Nystagmus Muscle weakness Pain Peripheral neuropathy Hepatomegaly Dystonia Areflexia Developmental regression Jaundice Hypoglycemia Ataxia Mesoaxial hand polydactyly Distal muscle weakness Abnormality of the cerebral white matter Lactic acidosis Cirrhosis Transverse vaginal septum Growth delay Generalized hypotonia Hydrometrocolpos Drowsiness Memory impairment Psychosis Hypertriglyceridemia Pelvic mass Vesicovaginal fistula Hallucinations Hepatic fibrosis Hyperammonemia Restlessness Prominent scrotal raphe Global developmental delay Insomnia Hepatocellular carcinoma Delusions Intrahepatic cholestasis Echolalia Enuresis Mania Delirium Delayed menarche Hypoargininemia Hepatic failure Progressive neurologic deterioration Sensory neuropathy Amenorrhea Abnormality of cardiovascular system morphology Hypospadias Micropenis Hydronephrosis Anal atresia Edema of the lower limbs Pulmonary hypoplasia Postaxial polydactyly Abdominal distention Tetralogy of Fallot Respiratory distress Postaxial hand polydactyly Primary amenorrhea Choanal atresia Aganglionic megacolon Esophageal atresia Hydrops fetalis Abnormal vertebral morphology Congenital hip dislocation Polycystic kidney dysplasia Syndactyly Cryptorchidism Tracheoesophageal fistula Pain insensitivity Sensorimotor neuropathy Increased susceptibility to fractures Decreased number of peripheral myelinated nerve fibers Prolonged neonatal jaundice Abnormality of the immune system Arthropathy Acute hepatic failure Penoscrotal hypospadias Recurrent corneal erosions Microvesicular hepatic steatosis Osteomyelitis leading to amputation due to slow healing fractures Chordee Vaginal atresia Macrovesicular hepatic steatosis Rectovaginal fistula Nonimmune hydrops fetalis Corneal ulceration Acral ulceration Painless fractures due to injury Endometriosis Reye syndrome-like episodes Periventricular leukomalacia Molar tooth sign on MRI Coma Specific learning disability Intellectual disability Hearing impairment Sensorineural hearing impairment Macrotia Coarse facial features Intellectual disability, moderate Blepharophimosis Bulbous nose Everted lower lip vermilion Bilateral sensorineural hearing impairment Mild proteinuria Thick lower lip vermilion Narrow palpebral fissure Prominent supraorbital ridges Palpebral edema Macroorchidism Periorbital fullness Feeding difficulties Acidosis Metabolic acidosis Mesangial hypercellularity Steroid-resistant nephrotic syndrome Dehydration Renal insufficiency Fever Immunodeficiency EEG abnormality Mental deterioration Hemiparesis Meningitis Encephalitis Herpes simplex encephalitis Anemia Proteinuria Obstructive sleep apnea Abnormality of the kidney Apnea Scarring Stage 5 chronic kidney disease Nephrotic syndrome Hyperlipidemia Sleep apnea Chronic kidney disease Glomerulosclerosis Focal segmental glomerulosclerosis Hypotension Hyponatremia Irritability Brain atrophy Pectus excavatum Clinodactyly Inguinal hernia Agenesis of corpus callosum Polyhydramnios Pectus carinatum Finger syndactyly Hip dislocation Genu valgum Osteoarthritis Short neck Abnormality of epiphysis morphology Joint dislocation Epiphyseal dysplasia Cognitive impairment Multiple epiphyseal dysplasia Enlarged joints Tremor Hyperactivity Carcinoma Aggressive behavior Malar flattening Frontal bossing Hyperkalemia Optic disc pallor Hyperaldosteronism Renal tubular dysfunction Renal salt wasting Increased circulating renin level Pseudohypoaldosteronism Hyperactive renin-angiotensin system Scoliosis Blindness Nyctalopia Lymphopenia Macrocephaly Recurrent pneumonia Hypercholesterolemia Attenuation of retinal blood vessels Drusen Epiretinal membrane Macular hole Hypertelorism Abnormal facial shape Low-set ears Motor delay Hydrocolpos


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