Edema, and Recurrent urinary tract infections

Diseases related with Edema and Recurrent urinary tract infections

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


Top matches:

Low match IMMUNODEFICIENCY 53; IMD53


Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Arthritis
  • Respiratory tract infection
  • Recurrent urinary tract infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 53; IMD53

Low match HYPERCALCEMIA, INFANTILE, 2; HCINF2


Infantile hypercalcemia is characterized by severe hypercalcemia with failure to thrive, vomiting, dehydration, and nephrocalcinosis (summary by Schlingmann et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypercalcemia, see HCINF1 (OMIM ).

Related symptoms:

  • Failure to thrive
  • Muscular hypotonia
  • Vomiting
  • Dehydration
  • Recurrent urinary tract infections


SOURCES: OMIM MENDELIAN

More info about HYPERCALCEMIA, INFANTILE, 2; HCINF2

Low match RENAL COLOBOMA SYNDROME


Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.

RENAL COLOBOMA SYNDROME Is also known as renal-coloboma syndrome|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|optic coloboma, vesicoureteral reflux, and renal anomalies|papillo-renal syndrome|coloboma of optic nerve with renal disease|renal-coloboma s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RENAL COLOBOMA SYNDROME

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Other less relevant matches:

Low match CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES


Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classic Ehlers-Danlos syndrome (see {130000}). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by Davidson and Giro, 2002).Patients with autosomal recessive cutis laxa type IC exhibit generalized cutis laxa in association with impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development (summary by Callewaert et al., 2013).For general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES Is also known as urban-rifkin-davis syndrome|arcl1c|autosomal recessive cutis laxa type 1c|urds|cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Depressed nasal bridge


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES

Low match SCALP-EAR-NIPPLE SYNDROME


Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.

SCALP-EAR-NIPPLE SYNDROME Is also known as finlay-marks syndrome|sen syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cataract
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SCALP-EAR-NIPPLE SYNDROME

Low match OPITZ GBBB SYNDROME, TYPE I; GBBB1


The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005).This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity. Genetic HeterogeneitySee also GBBB2 (OMIM ), caused by mutation in the SPECC1L gene (OMIM ) on chromosome 22q11.

OPITZ GBBB SYNDROME, TYPE I; GBBB1 Is also known as opitz bbbg syndrome, type i|opitz syndrome|os|opitz syndrome, x-linked|ogs1|hypertelorism-hypospadias syndrome|osx|telecanthus-hypospadias syndrome|opitz gbbb syndrome, x-linked|bbbg1|hypertelorism with esophageal abnormality and hypospadias|opitz-g syndr

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE I; GBBB1

Low match LYMPHEDEMA-DISTICHIASIS SYNDROME


Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.

LYMPHEDEMA-DISTICHIASIS SYNDROME Is also known as lymphedema with distichiasis

Related symptoms:

  • Muscle weakness
  • Cleft palate
  • Pain
  • Cataract
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHEDEMA-DISTICHIASIS SYNDROME

Low match MONOSOMY 22Q13


Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.

MONOSOMY 22Q13 Is also known as 22q13 deletion|phelan-mcdermid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 22Q13

Low match PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

Low match NAIL-PATELLA SYNDROME; NPS


NAIL-PATELLA SYNDROME; NPS Is also known as turner-kieser syndrome|nps1|fong disease|onychoosteodysplasia

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about NAIL-PATELLA SYNDROME; NPS

Top 5 symptoms//phenotypes associated to Edema and Recurrent urinary tract infections

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Edema and Recurrent urinary tract infections. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Proteinuria Hydronephrosis Epicanthus Vesicoureteral reflux Hypertension Sensorineural hearing impairment Cleft palate Renal dysplasia Renal insufficiency Abnormality of the kidney Cleft upper lip Hypertelorism Lymphedema Depressed nasal bridge Wide nasal bridge Obesity Malar flattening Gastroesophageal reflux

Rare Symptoms - Less than 30% cases


Convex nasal ridge Abnormal facial shape Anteverted nares Bilateral renal hypoplasia Recurrent pyelonephritis Generalized hypotonia Low-set ears Syndactyly Sparse hair Micrognathia Large fontanelles Umbilical hernia Congenital diaphragmatic hernia Hernia Macrotia Immunodeficiency Telecanthus Patent ductus arteriosus Clinodactyly of the 5th finger Delayed speech and language development Tubulointerstitial nephritis Recurrent skin infections Paresthesia Pain Oral cleft Cleft lip Recurrent infections Agenesis of corpus callosum Pectus excavatum Nail dystrophy Abnormality of cardiovascular system morphology Downslanted palpebral fissures High palate Palpebral edema Abnormality of the urinary system Abnormality of the fingernails Hydrocele testis Hypohidrosis Nail dysplasia Dry skin Pyelonephritis Prominent forehead Dehydration Glaucoma Renal hypoplasia Short stature Strabismus Nephropathy Confusion Coloboma Joint laxity Nephritis Visual impairment Vomiting Myopia Erythema Intellectual disability, severe Sacral dimple Large hands Hypoplastic toenails Palmoplantar keratoderma Impaired pain sensation Arachnoid cyst Bruxism Hirsutism Cerebellar cortical atrophy Hair-pulling Arachnodactyly Anemia Hepatomegaly Skin rash Genu valgum Elevated hepatic transaminase Papule Intellectual disability, mild Splenomegaly Short nose Carious teeth Accelerated skeletal maturation Abnormality of metabolism/homeostasis Thrombocytopenia Recurrent respiratory infections Hyperkeratosis Proptosis High forehead Pruritus Hepatosplenomegaly Diarrhea Long eyelashes Pointed chin Cellulitis Renal duplication Distichiasis Venous insufficiency Varicose veins Corneal erosion Joint swelling Overweight Glomerulopathy Ectropion Fibrosarcoma Polyarticular arthritis Conjunctivitis Gynecomastia Failure to thrive Telangiectasia Webbed neck Growth hormone deficiency Bruising susceptibility Knee pain Predominantly lower limb lymphedema Dental crowding Autistic behavior Dental malocclusion Full cheeks Sleep disturbance Thick eyebrow Bulbous nose Nausea and vomiting Hypermetropia Dolichocephaly Neonatal hypotonia Abnormality of the pulmonary vasculature Deeply set eye Hyperactivity Arthritis Macrocephaly Respiratory tract infection Feeding difficulties Lipedema Spinalarachnoid cyst Asthma Inflammatory abnormality of the skin Hepatitis Patellar dislocation Patellar hypoplasia Concave nail Ridged nail Patellar aplasia Raynaud phenomenon Blue irides Abnormality of the elbow Renal cell carcinoma Microalbuminuria Keratoconus Colon cancer Limited elbow extension Anonychia Glomerulonephritis Pterygium Aortic regurgitation Spina bifida Aplasia/Hypoplasia of the patella Cervical ribs Nephrotic syndrome Thickening of the lateral border of the scapula Lester's sign Absence of pectoralis minor muscle Elongated radius Triceps aplasia Disproportionate prominence of the femoral medial condyle Quadriceps aplasia Stellate iris Hypoplastic radial head Congenital nephrotic syndrome Iliac horns Glenoid fossa hypoplasia Hypoplasia of first ribs Microphakia Deep-set nails Antecubital pterygium Absent distal interphalangeal creases Albuminuria Lumbar hyperlordosis Microcornea Low posterior hairline Recurrent pneumonia Petechiae Increased antibody level in blood Osteomyelitis Psoriasiform dermatitis Systemic lupus erythematosus Reduced bone mineral density Generalized hirsutism Bilateral single transverse palmar creases Abnormality of the hip bone Low anterior hairline Skin ulcer Abnormality of retinal pigmentation Abnormal lung morphology Thin skin Abnormality of the liver Depressed nasal ridge Cutaneous photosensitivity Elevated erythrocyte sedimentation rate Aplasia/Hypoplasia of the skin Hematuria Diffuse telangiectasia Talipes Arthrogryposis multiplex congenita Pes planus Osteoporosis Talipes equinovarus Neoplasm Scoliosis Recurrent cystitis Crusting erythematous dermatitis Abnormality of the immune system Facial hirsutism Poliosis Abnormality of the middle ear White forelock Concave nasal ridge Chronic lung disease Hypoplasia of the zygomatic bone Prolonged neonatal jaundice Muscular hypotonia Elevated serum creatinine Anxiety Premature skin wrinkling Retinal detachment Gliosis Bronchomalacia Rectal prolapse Periorbital edema Bladder diverticulum Peripheral pulmonary artery stenosis Pulmonary artery stenosis Abnormality of the dentition Tracheomalacia Prematurely aged appearance Emphysema Patent foramen ovale Pyloric stenosis Laryngomalacia Cutis laxa Stage 5 chronic kidney disease Joint hyperflexibility Microretrognathia Iris coloboma Abnormality of the hair Microphthalmia Fine hair Hypotelorism Renal agenesis Abnormality of the skin Delayed eruption of teeth Reduced visual acuity Hyperhidrosis Congenital cataract Finger syndactyly Microtia Blepharophimosis Protruding ear Abnormality of the pinna Camptodactyly Mandibular prognathia Sandal gap Progressive visual loss Type I diabetes mellitus Mild proteinuria Arnold-Chiari type I malformation Macular hyperpigmentation Orbital cyst Morning glory anomaly Renal malrotation Scleral staphyloma Optic nerve dysplasia Soft skin Severe vision loss Lens luxation Platybasia Abnormality of the vasculature Ureteropelvic junction obstruction High-frequency hearing impairment Retinal coloboma Optic nerve coloboma Ureterovesical junction obstruction Growth delay Sloping forehead Respiratory failure Abnormality of the genital system Pulmonary hypoplasia Nephrolithiasis Horseshoe kidney Retrognathia Multicystic kidney dysplasia Macular degeneration Inguinal hernia Chorioretinal atrophy Abnormality of the genitourinary system Midface retrusion Dilatation Chronic kidney disease Long philtrum Respiratory distress Hyperextensible skin Visual field defect Abnormality of the nail Narrow palpebral fissure Photophobia Intestinal malrotation Bilateral cleft lip Double outlet right ventricle Prominent metopic ridge Increased number of teeth Abnormality of the voice Aspiration Ambiguous genitalia Hypodontia Bilateral cleft lip and palate Hypercalciuria Hypercalcemia Smooth philtrum Anal atresia Pectus carinatum Polyuria Thin upper lip vermilion Aspiration pneumonia Widow's peak Posteriorly rotated ears Osteoma Diabetes mellitus Hypogonadism Arrhythmia Multiple renal cysts Nephrocalcinosis Muscle weakness Posterior pharyngeal cleft Exstrophy Pulmonary artery atresia Recurrent aspiration pneumonia Bladder exstrophy Intestinal lymphangiectasia Abnormality of the nasopharynx Right aortic arch Chylothorax Abnormality of the pharynx Volvulus Hypophosphatemia Hypoparathyroidism Hydrocephalus Hypoplastic nipples Ureteral duplication Absent nipple Aplasia/Hypoplasia of the nipples Abnormality of the endocrine system Eyelid coloboma Abnormality of the antihelix Short columella Aplasia cutis congenita Small earlobe Narrow nasal bridge Multiple lipomas Agenesis of permanent teeth 2-3 toe syndactyly Cupped ear Abnormality of the thorax Cutaneous syndactyly Aplasia cutis congenita of scalp Breast aplasia Pneumonia Dysphagia Abnormal heart morphology Renal phosphate wasting Infantile hypercalcemia Hypospadias Medullary nephrocalcinosis Respiratory insufficiency Ventricular septal defect Frontal bossing Hypoplastic helices Nystagmus Cryptorchidism Duplication of renal pelvis Abnormality of the scalp Underdeveloped antitragus 3-4 finger cutaneous syndactyly Underdeveloped tragus Bilateral camptodactyly Biceps aplasia



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