Autoimmunity, and Hydronephrosis

Diseases related with Autoimmunity and Hydronephrosis

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


Top matches:

Medium match THROMBOCYTOPENIA 2; THC2


Thrombocytopenia-2 is an autosomal dominant nonsyndromic disorder characterized by decreased numbers of normal platelets, resulting in a mild bleeding tendency. Laboratory studies show no defects in platelet function or morphology, and bone marrow examination shows normal numbers of megakaryocytes and normal maturation stages, suggesting defective platelet production or release (summary by Pippucci et al., 2011).

THROMBOCYTOPENIA 2; THC2 Is also known as thrombocytopenia, autosomal dominant, 2

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Hydronephrosis
  • Bruising susceptibility
  • Hematuria


SOURCES: OMIM MESH MENDELIAN

More info about THROMBOCYTOPENIA 2; THC2

Medium match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Medium match GRANULOMATOSIS WITH POLYANGIITIS


Granulomatosis with polyangiitis is a small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.

GRANULOMATOSIS WITH POLYANGIITIS Is also known as wegener granulomatosis, formerly|gpa|wg, formerly

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Visual impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GRANULOMATOSIS WITH POLYANGIITIS

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Other less relevant matches:

Medium match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Medium match KABUKI SYNDROME 1; KABUK1


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

Low match XANTHINURIA TYPE I


Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.

XANTHINURIA TYPE I Is also known as xor deficiency|xdh deficiency|xanthine oxidase deficiency|xanthine oxidoreductase deficiency|xanthine dehydrogenase deficiency|xo deficiency

Related symptoms:

  • Myopathy
  • Abnormality of metabolism/homeostasis
  • Hydronephrosis
  • Nephrolithiasis
  • Pyelonephritis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about XANTHINURIA TYPE I

Low match UROFACIAL SYNDROME 2; UFS2


Urofacial syndrome (UFS; Ochoa syndrome) is an autosomal recessive disorder characterized by congenital urinary bladder dysfunction associated with an abnormal facial expression upon smiling, laughing, and crying. Affected individuals have an overactive detrusor muscle that fails to fully expel urine because of concomitant internal sphincter contraction, and patients may experience lifelong urinary incontinence, recurrent urosepsis, vesicoureteral reflux, and renal failure. In addition, some patients have severe constipation, indicating a generalized elimination defect (summary by Stuart et al., 2013).For a discussion of genetic heterogeneity of UFS, see UFS1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Renal insufficiency
  • Constipation
  • Hydronephrosis
  • Vesicoureteral reflux


SOURCES: ORPHANET OMIM MENDELIAN

More info about UROFACIAL SYNDROME 2; UFS2

Low match OCHOA SYNDROME


Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.

OCHOA SYNDROME Is also known as partial facial palsy with urinary abnormalities|inverted smile-neurogenic bladder syndrome|urofacial syndrome|hydronephrosis-inverted smile syndrome

Related symptoms:

  • Cryptorchidism
  • Hypertension
  • Renal insufficiency
  • Constipation
  • Hydronephrosis


SOURCES: ORPHANET MENDELIAN

More info about OCHOA SYNDROME

Low match CONGENITAL HYDRONEPHROSIS


Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy.

CONGENITAL HYDRONEPHROSIS Is also known as pujo|upjo|pelviureteric junction obstruction|multicystic renal dysplasia, bilateral|hydronephrosis due to pujo|mcrd|ureteropelvic junction obstruction

Related symptoms:

  • Pain
  • Renal insufficiency
  • Polyhydramnios
  • Hydronephrosis
  • Abnormality of the kidney


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL HYDRONEPHROSIS

Low match DESMOID TUMOR


A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.

DESMOID TUMOR Is also known as fif|aggressive fibromatosis|desmoid type fibromatosis|fibromatosis, familial infiltrative

Related symptoms:

  • Neoplasm
  • Abdominal pain
  • Arthralgia
  • Myalgia
  • Hydronephrosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about DESMOID TUMOR

Top 5 symptoms//phenotypes associated to Autoimmunity and Hydronephrosis

Symptoms // Phenotype % cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Recurrent urinary tract infections Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Otitis media Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Hydronephrosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Purpura Hemolytic anemia Renal dysplasia Autoimmune hemolytic anemia Thrombocytopenia Vesicoureteral reflux Abnormality of the kidney Seizures Hearing impairment Cleft palate Anemia Micrognathia Microcephaly Short stature Global developmental delay Autoimmune thrombocytopenia Intellectual disability Hematuria

Rare Symptoms - Less than 30% cases


Cryptorchidism Abnormality of the musculature Abnormality of the pinna Constipation Anal stenosis Urinary incontinence Nephropathy Hypothyroidism Malabsorption Polymicrogyria Posteriorly rotated ears Abnormal heart morphology Patent ductus arteriosus Obesity Vitiligo Sinusitis Pain Abnormal facial shape Ureteropelvic junction obstruction Ptosis Fever Abdominal pain Hypertension Scoliosis Abnormality of the urinary system Recurrent infections High palate Ventricular septal defect Arthralgia Myalgia Anorectal anomaly Atrial septal defect Arthritis Paralysis Chest pain Astigmatism Cafe-au-lait spot Recurrent respiratory infections Attention deficit hyperactivity disorder Abnormality of the middle ear Intellectual disability, moderate Retrognathia Macrotia Hydroureter Pneumonia Anal atresia Hypospadias Intestinal obstruction Diarrhea Respiratory insufficiency Short neck Growth delay Gastrointestinal hemorrhage Strabismus Prominent nose Visual loss Subcutaneous nodule Coarctation of aorta Renal agenesis Primary amenorrhea Amenorrhea Wide nose Congenital diaphragmatic hernia Blue sclerae Recurrent otitis media Small nail Joint hypermobility Jaundice Heterotopia Sparse and thin eyebrow Long eyelashes Hypoglycemia Growth hormone deficiency Microdontia Highly arched eyebrow Respiratory tract infection Postnatal growth retardation Single transverse palmar crease Feeding difficulties in infancy Hypodontia Joint laxity Dental malocclusion Protruding ear Abnormal vertebral morphology Hirsutism Anxiety Decreased antibody level in blood Coloboma Abnormal cardiac septum morphology Intestinal malrotation Epicanthus Pes planus Impaired T cell function Right aortic arch with mirror image branching Arteria lusoria Aplasia of the thymus Conotruncal defect Vascular tortuosity Abnormality of the thymus Retinal vascular tortuosity Duodenal stenosis Perisylvian polymicrogyria Right aortic arch Accommodative esotropia Alcoholism Femoral hernia Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Hypoplasia of the thymus Anterior segment developmental abnormality Seborrheic dermatitis Esophoria Sacral meningocele Micropenis Myopia Severe short stature Clinodactyly Depressivity Hernia Dilatation Kyphosis Intellectual disability, mild Abnormality of the dentition Abnormality of the skeletal system Wide nasal bridge Decreased circulating parathyroid hormone level Brachydactyly Congenital hip dislocation Feeding difficulties Muscular hypotonia Failure to thrive Generalized hypotonia Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Increased body weight Scaphocephaly Horseshoe kidney Reduced xanthine dehydrogenase activity Oligohydramnios Abnormality of the cardiovascular system Polyhydramnios Urethral obstruction Bowel incontinence Polydipsia Abnormal facial expression Enuresis Urinary urgency Nephroblastoma Xanthine nephrolithiasis Renal hypoplasia Xanthinuria Molybdenum cofactor deficiency Hypouricemia Pyelonephritis Nephrolithiasis Abnormality of metabolism/homeostasis Myopathy Congenital mitral stenosis Anoperineal fistula Nocturnal lagophthalmos Nephrotic syndrome Multicystic kidney dysplasia Pilonidal sinus Abnormality of retinal pigmentation Abdominal mass Epidermoid cyst Fibroma Neoplasm of the breast Abnormality of the abdominal wall Abnormality of the upper urinary tract Intestinal polyposis Colon cancer Neoplasm of the skin Osteolysis Limitation of joint mobility Sarcoma Sepsis Carcinoma Renal sarcoma Congenital megaureter Bilateral renal dysplasia Flank pain Ureterocele Renal duplication Cystic renal dysplasia Cerebral hemorrhage Vertical orbital dystopia Short nasal septum Hyperbilirubinemia Long palpebral fissure Patellar dislocation Tetany Overweight Hashimoto thyroiditis IgA deficiency Thyroiditis Congenital hypothyroidism Cerebellar vermis atrophy Transposition of the great arteries Severe hearing impairment Celiac disease Depressed nasal tip Right bundle branch block Bundle branch block Preauricular pit Bilateral cryptorchidism Cupped ear Precocious puberty Brittle hair Failure to thrive in infancy Poor suck Abnormal dermatoglyphics Short columella Short 5th finger Eversion of lateral third of lower eyelids Prominent fingertip pads Premature thelarche Prominent eyelashes Liver abscess Sclerosing cholangitis Single ventricle Crossed fused renal ectopia Common atrium Vertebral clefting Epibulbar dermoid Recurrent aspiration pneumonia Biliary atresia Retinal coloboma Bronchomalacia Diaphragmatic eventration Recurrent ear infections Anterior plagiocephaly Trichorrhexis nodosa Broad philtrum Small face Cholangitis Optic nerve coloboma Mitral stenosis Juvenile rheumatoid arthritis Microtia Myelomeningocele T-cell lymphoma Peripheral neuropathy Visual impairment Sensorineural hearing impairment Progressive vitiligo Mastoiditis Malar prominence Dysgammaglobulinemia Penoscrotal hypospadias Recurrent infection of the gastrointestinal tract Pollakisuria Respiratory distress B lymphocytopenia Decrease in T cell count Abnormal hair quantity Rhabdomyosarcoma Glioma Abnormality of chromosome stability Medulloblastoma Recurrent sinopulmonary infections B-cell lymphoma Fatigue Cardiomyopathy Abnormal eyelid morphology Nausea and vomiting Vasculitis Meningitis Hoarse voice Skin ulcer Diplopia Myocardial infarction Epistaxis Sensory neuropathy Paresthesia Papule Headache Cough Stroke Skin rash Retinopathy Proteinuria Dyspnea Proptosis Weight loss Arrhythmia Recurrent bronchitis Acute leukemia Pancreatitis Skeletal muscle atrophy Cleft upper lip Leukemia Small for gestational age Prominent nasal bridge Mental deterioration Abnormality of the nervous system Respiratory failure Hyperactivity Upslanted palpebral fissure Intrauterine growth retardation Lymphoma Depressed nasal bridge Muscle weakness Ataxia Increased mean platelet volume Abnormal thrombocyte morphology Aplastic anemia Menorrhagia Abnormal bleeding Bruising susceptibility Neurodegeneration Convex nasal ridge Hearing abnormality Cachexia Acute lymphoblastic leukemia Neuroblastoma Freckling Long nose Non-midline cleft lip Combined immunodeficiency Abnormality of neuronal migration Premature ovarian insufficiency Deep philtrum Recurrent pneumonia Sloping forehead Low anterior hairline Lymphopenia Abnormality of the hair Telangiectasia Bronchiectasis Chronic diarrhea Abnormality of the face Choanal atresia Cutaneous photosensitivity Conjunctivitis Cranial nerve paralysis Truncus arteriosus Cleft lip Chorea Bifid uvula High, narrow palate Iris coloboma Bulbous nose Generalized tonic-clonic seizures Short philtrum Blepharophimosis Craniosynostosis Telecanthus Tetralogy of Fallot Umbilical hernia Narrow mouth Inguinal hernia Abnormality of cardiovascular system morphology Microphthalmia Behavioral abnormality Hypertonia Hydrocephalus Hypoplasia of the corpus callosum Specific learning disability Low posterior hairline Flexion contracture Rheumatoid arthritis Sclerocornea Meningocele Hypoparathyroidism Bipolar affective disorder Posterior embryotoxon Inflammation of the large intestine Acne Unilateral renal agenesis Psoriasiform dermatitis Cholelithiasis Short palpebral fissure Nasal speech Arnold-Chiari malformation Schizophrenia Bicuspid aortic valve Hypocalcemia Spina bifida Exotropia Amblyopia Broad thumb Delayed speech and language development Cognitive impairment Venous thrombosis Glomerulopathy Angina pectoris Chronic obstructive pulmonary disease Tracheal stenosis Myositis Gangrene Pulmonary infiltrates Hemoptysis Wheezing Pericarditis Elevated erythrocyte sedimentation rate Cerebral ischemia Petechiae Restrictive ventilatory defect Pulmonary fibrosis Diabetes insipidus Stridor Chronic otitis media Pleural effusion Glomerulonephritis Hemiplegia Concave nasal ridge Abnormality of the nose Low-set ears Endocarditis Hypertelorism Prostatitis Recurrent intrapulmonary hemorrhage Scleritis Increased inflammatory response Arteritis Episcleritis Abnormal oral cavity morphology Ureteral stenosis Neuritis Abnormality of the hypothalamus-pituitary axis Granulomatosis Pleuritis Subglottic stenosis Ocular pain Rhinorrhea Periorbital edema Elevated C-reactive protein level Inflammatory abnormality of the eye Nasal obstruction Recurrent corneal erosions Desmoid tumors



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