Cryptorchidism, and Systemic lupus erythematosus

Diseases related with Cryptorchidism and Systemic lupus erythematosus

In the following list you will find some of the most common rare diseases related to Cryptorchidism and Systemic lupus erythematosus that can help you solving undiagnosed cases.


Top matches:

High match NOONAN SYNDROME 8; NS8


Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

Medium match FAMILIAL MEDITERRANEAN FEVER


Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.

FAMILIAL MEDITERRANEAN FEVER Is also known as benign paroxysmal peritonitis|familial paroxysmal polyserositis|benign recurrent polyserositis|polyserositis, familial paroxysmal|fmf|periodic disease|familial mediterranean fever, autosomal recessive|polyserositis, recurrent

Related symptoms:

  • Seizures
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MEDITERRANEAN FEVER

Low match 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

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Other less relevant matches:

Low 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 VON WILLEBRAND DISEASE TYPE 1


Type 1 von Willebrand disease (type 1 VWD) is a form of VWD (see this term) characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF).

VON WILLEBRAND DISEASE TYPE 1 Is also known as von willebrand disease, type i|vwd, type 1

Related symptoms:

  • Autoimmunity
  • Bruising susceptibility
  • Gastrointestinal hemorrhage
  • Mitral valve prolapse
  • Epistaxis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about VON WILLEBRAND DISEASE TYPE 1

Low match HEREDITARY ANGIOEDEMA TYPE 1


Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.

HEREDITARY ANGIOEDEMA TYPE 1 Is also known as hae 1|angioneurotic edema, hereditary|hereditary angioneurotic edema type 1|hae-i|hane|c1 esterase inhibitor, deficiency of

Related symptoms:

  • Pain
  • Peripheral neuropathy
  • Dysphagia
  • Respiratory distress
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY ANGIOEDEMA TYPE 1

Low match AUTOSOMAL DOMINANT CUTIS LAXA


Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.

AUTOSOMAL DOMINANT CUTIS LAXA Is also known as adcl

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Feeding difficulties
  • Fatigue
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CUTIS LAXA

Low match CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1


CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 Is also known as chondrodysplasia punctata, brachytelephalangic|cpxr

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1

Low match COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1


Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years (Ross and Densen, 1984).Two kinds of inherited C8 deficiency have been reported in man: type I, in which only C8 alpha and C8 gamma are deficient, and type II (OMIM ), in which only C8 beta (C8B ) is deficient (Marcus et al., 1982; Tedesco et al., 1983). The 2 types are clinically indistinguishable (Ross and Densen, 1984).

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1 Is also known as c8ag deficiency|c8 deficiency, type i|c8 alpha-gamma deficiency

Related symptoms:

  • Meningitis
  • Systemic lupus erythematosus
  • C8 deficiency
  • Recurrent Neisserial infections


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1

Low match MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY


Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY Is also known as mendelian susceptibility to interleukin 12 receptor beta 1 deficiency|il12rb1 deficiency|msmd due to complete il12rb1 deficiency|msmd due to complete interleukin 12 receptor beta 1 deficiency

Related symptoms:

  • Diarrhea
  • Immunodeficiency
  • Recurrent infections
  • Systemic lupus erythematosus
  • Recurrent mycobacterial infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY

Top 5 symptoms//phenotypes associated to Cryptorchidism and Systemic lupus erythematosus

Symptoms // Phenotype % cases
Autoimmunity Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cryptorchidism and Systemic lupus erythematosus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Diarrhea Abnormal facial shape Microcephaly Renal insufficiency Hearing impairment Global developmental delay Immunodeficiency Atrial septal defect Patent ductus arteriosus Ptosis Scoliosis Purpura Epicanthus Hypertelorism Ventricular septal defect

Rare Symptoms - Less than 30% cases


Wide nasal bridge Cataract Cleft palate Muscular hypotonia Upper airway obstruction Strabismus Micrognathia Nausea Asthma Meningitis Vasculitis Hoarse voice Stridor Dyspnea Inguinal hernia Abnormality of the dentition Gastrointestinal hemorrhage Coarctation of aorta Hernia Recurrent infections Dilatation Feeding difficulties Generalized hypotonia Anorectal anomaly Patellar dislocation Short nasal septum Intestinal malrotation Respiratory distress Anal atresia Joint hyperflexibility Feeding difficulties in infancy Anxiety Umbilical hernia Hypothyroidism Skin rash Hypospadias Depressivity Obesity Malabsorption Intellectual disability, mild Erythema Downslanted palpebral fissures Polyhydramnios Abnormality of the kidney Abnormal cardiac septum morphology Leukemia Pulmonic stenosis Ventricular hypertrophy Abnormal heart morphology Pain Anemia Constipation Edema Abdominal pain Short neck Splenomegaly Myalgia Arthritis Low-set ears Recurrent otitis media Optic nerve coloboma Anterior plagiocephaly Trichorrhexis nodosa Broad philtrum Small face Cholangitis Mitral stenosis Otitis media Ureteropelvic junction obstruction Retinal coloboma Short 5th finger Depressed nasal tip Short columella Vitiligo Scaphocephaly Overweight Recurrent ear infections Diaphragmatic eventration Anal stenosis Dental malocclusion Prominent eyelashes Single transverse palmar crease Liver abscess Sclerosing cholangitis Hypodontia Single ventricle Crossed fused renal ectopia Prominent nose Common atrium Growth hormone deficiency Vertebral clefting Epibulbar dermoid Abnormality of the middle ear Decreased antibody level in blood Recurrent aspiration pneumonia Prominent fingertip pads Biliary atresia Bronchomalacia Hashimoto thyroiditis Thyroiditis Autoimmune thrombocytopenia C8 deficiency Failure to thrive in infancy Small nail Poor suck Abnormality of the urinary system Abnormal dermatoglyphics Hyperbilirubinemia Maternal autoimmune disease Recurrent Neisserial infections Blue sclerae Horseshoe kidney Congenital hip dislocation Increased body weight Sparse and thin eyebrow Abnormal vertebral morphology Cafe-au-lait spot Long eyelashes Renal dysplasia Brittle hair Precocious puberty IgA deficiency Eversion of lateral third of lower eyelids Heterotopia Congenital hypothyroidism Autoimmune hemolytic anemia Cerebellar vermis atrophy Microdontia Transposition of the great arteries Severe hearing impairment Long palpebral fissure Vitamin K deficiency Celiac disease Congenital diaphragmatic hernia Right bundle branch block Bundle branch block Hydroureter Preauricular pit Bilateral cryptorchidism Cupped ear Premature thelarche Congenital mitral stenosis Epiphyseal stippling Inspiratory stridor Pharyngeal edema Abnormal respiratory system morphology Abnormal soft palate morphology Cryoglobulinemia Edema of the dorsum of hands Dermatographic urticaria Facial edema Angioedema Chronic lymphatic leukemia Abnormality of the uvula Ovarian cyst Abnormality of the larynx Multiple myeloma Lymphoproliferative disorder Aortic root aneurysm Axonal degeneration Glomerulonephritis Urticaria Intestinal edema Tongue edema Pulmonary artery stenosis Bronchiectasis Emphysema Heart murmur Aortic aneurysm Infantile spasms Redundant skin Venous thrombosis Cutis laxa Aortic regurgitation Abnormality of the face Abnormal epiglottis morphology Abnormal heart valve morphology Mitral regurgitation Prematurely aged appearance Full cheeks Respiratory failure Fatigue Abnormality of salivation Limbal edema Laryngeal edema Polycystic ovaries Heart block Pilonidal sinus Menorrhagia Prolonged bleeding after surgery Reduced factor VIII activity Short distal phalanx of finger Joint hemorrhage Impaired platelet aggregation Short phalanx of finger Prolonged bleeding time Anosmia Abnormality of the genitourinary system Prolonged whole-blood clotting time Aortic valve stenosis Epistaxis Mitral valve prolapse Bruising susceptibility Anoperineal fistula Abnormality of the vertebral column Nocturnal lagophthalmos Vertical orbital dystopia Gastrointestinal angiodysplasia Ichthyosis Aortic dissection Bowel diverticulosis Raynaud phenomenon Right ventricular hypertrophy Premature skin wrinkling Subglottic stenosis Hypotension Peripheral axonal neuropathy Paresthesia Uterine prolapse Weight loss Hypogonadism Hemolytic anemia Abnormality of metabolism/homeostasis Vomiting Aortic rupture Repeated pneumothoraces Dysphagia Peripheral neuropathy Depressed nasal bridge Short nose Highly arched eyebrow Abnormality of the tonsils Hirsutism Oral leukoplakia Erysipelas Congenital hypoplastic anemia Pleuritis Stiff neck Synovitis Decreased circulating aldosterone level Peritonitis Anemia of inadequate production Acute hepatic failure Renal amyloidosis Edema of the lower limbs Antinuclear antibody positivity Gout Increased serum ferritin Episodic fever Pericarditis Amyloidosis Elevated erythrocyte sedimentation rate Gastrointestinal infarctions Azotemia Leukocytosis Abnormality of cardiovascular system morphology Telecanthus Conductive hearing impairment Gastroesophageal reflux Narrow mouth Autism Glaucoma Upslanted palpebral fissure Thrombocytopenia Microphthalmia Serositis Malar flattening Long philtrum Behavioral abnormality Hydrocephalus Talipes equinovarus Optic atrophy Intrauterine growth retardation Orchitis Recurrent meningitis Hyperkalemia Inflammation of the large intestine Short philtrum Left ventricular hypertrophy Graves disease Acute lymphoblastic leukemia Curly hair Abnormality of the sternum Pleural effusion Hyperextensible skin Relative macrocephaly Hyperpigmentation of the skin Low posterior hairline Palmoplantar cutis laxa Abnormality of the cardiovascular system Webbed neck Hypertrophic cardiomyopathy Hyperkeratosis Cardiomyopathy Macrocephaly Delayed speech and language development Cognitive impairment Chylothorax Hepatomegaly Intestinal obstruction Ascites Rheumatoid arthritis Chronic kidney disease Pancreatitis Nephrocalcinosis Osteoarthritis Myocardial infarction Nephrotic syndrome Chest pain Nephropathy Fever Stage 5 chronic kidney disease Lymphadenopathy Nausea and vomiting Proteinuria Hepatosplenomegaly Arthralgia Acidosis Arrhythmia Headache Attention deficit hyperactivity disorder Prominent nasal bridge Wide nose Abnormal aortic arch morphology Abnormality of the skeletal system Myopia Brachydactyly High palate Growth delay Occipital myelomeningocele Tricuspid atresia Multiple suture craniosynostosis Hypertensive crisis Clinodactyly Retinal arteriolar tortuosity Abnormal pulmonary valve morphology Impaired T cell function Arrhinencephaly Platybasia Small earlobe Abnormality of the pharynx Abnormal aortic valve morphology Kyphosis Visual loss Seborrheic dermatitis Postnatal growth retardation Polymicrogyria Joint hypermobility Astigmatism Coloboma Paralysis Protruding ear Respiratory tract infection Abnormality of the pinna Intellectual disability, moderate Pneumonia Joint laxity Hydronephrosis Hypoglycemia Jaundice Pes planus Macrotia Micropenis Posteriorly rotated ears Severe short stature Abnormal thrombocyte morphology Hypoplasia of the thymus Carious teeth Hypocalcemia Hand polydactyly Cholelithiasis Polycystic kidney dysplasia Nasal speech Laryngomalacia Schizophrenia Hypopigmented skin patches Abnormality of dental enamel Spina bifida Overfolded helix Aganglionic megacolon Choanal atresia Renal hypoplasia Tetralogy of Fallot Specific learning disability Vesicoureteral reflux Bulbous nose Long face Arachnodactyly Abnormality of the thorax Chronic otitis media Tetany Abnormality of the skull Corneal neovascularization Abnormality of the uterus Chronic obstructive pulmonary disease Atelectasis Varicose veins Abnormal eyelid morphology Truncus arteriosus Meningocele Multiple renal cysts Acne Hypoparathyroidism Turricephaly Bipolar affective disorder Abnormal lung lobation Posterior embryotoxon Foot polydactyly Hyperthyroidism Bowel incontinence Dysphasia Recurrent mycobacterial infections



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