Autoimmunity, and Hypospadias

Diseases related with Autoimmunity and Hypospadias

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


Top matches:

Low match BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17


Platelet-type bleeding disorder-17 is an autosomal dominant disorder characterized by increased bleeding tendency due to abnormal platelet function. It is a type of 'gray platelet syndrome' because the platelets appear abnormal on light microscopy. Electron microscopy shows decreased or absent alpha-granules within platelets, and bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The bleeding severity is variable (summary by Monteferrario et al., 2014).For a discussion of genetic heterogeneity of platelet-type bleeding disorder, see BDPLT1 (OMIM ).

BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17 Is also known as thrombasthenia-thrombocytopenia, hereditary

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Hypospadias
  • Patent ductus arteriosus
  • Bruising susceptibility


SOURCES: OMIM MESH MENDELIAN

More info about BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17

Low 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

Low match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

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Other less relevant matches:

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

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 WOODHOUSE-SAKATI SYNDROME


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

Low match NEUROMYELITIS OPTICA


Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.

NEUROMYELITIS OPTICA Is also known as devic disease

Related symptoms:

  • Pain
  • Respiratory insufficiency
  • Vomiting
  • Visual loss
  • Respiratory failure


SOURCES: MESH ORPHANET MENDELIAN

More info about NEUROMYELITIS OPTICA

Low match MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS


MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS Is also known as disseminated sclerosis

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

Low match THYROTOXIC PERIODIC PARALYSIS


Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.

THYROTOXIC PERIODIC PARALYSIS Is also known as thyrotoxic hypokalemic periodic paralysis

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Hyperreflexia
  • Tremor
  • Obesity


SOURCES: OMIM ORPHANET MENDELIAN

More info about THYROTOXIC PERIODIC PARALYSIS

Low match 46,XY COMPLETE GONADAL DYSGENESIS


46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.

46,XY COMPLETE GONADAL DYSGENESIS Is also known as 46,xy sex reversal, sry-related|46,xy pure gonadal dysgenesis|46,xy gonadal dysgenesis, complete, sry-related|46,xy cgd|swyer syndrome

Related symptoms:

  • Neoplasm
  • Hypospadias
  • Infertility
  • Amenorrhea
  • Primary amenorrhea


SOURCES: OMIM ORPHANET MENDELIAN

More info about 46,XY COMPLETE GONADAL DYSGENESIS

Top 5 symptoms//phenotypes associated to Autoimmunity and Hypospadias

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Purpura Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Depressivity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Immunodeficiency Cleft palate Anal atresia Microcephaly Short stature Global developmental delay Amenorrhea Primary amenorrhea Hypothyroidism Obesity Patent ductus arteriosus Scoliosis Thrombocytopenia Autoimmune thrombocytopenia Hemolytic anemia Mental deterioration Anorectal anomaly Acne Abnormal facial shape High palate Muscular hypotonia Autoimmune hemolytic anemia Ventricular septal defect Atrial septal defect Prominent nose Anal stenosis Anxiety Short neck Diarrhea Anemia Prominent nasal bridge Constipation Paralysis Intellectual disability, mild Neoplasm Visual loss Micrognathia Hyperreflexia Muscle weakness

Rare Symptoms - Less than 30% cases


Hernia Feeding difficulties in infancy Posteriorly rotated ears Abnormal heart morphology Inguinal hernia Intestinal malrotation Umbilical hernia Conductive hearing impairment Arthritis Abnormality of the pinna Abnormality of cardiovascular system morphology Behavioral abnormality Recurrent infections Hyperthyroidism Bulbous nose Tremor Patellar dislocation Hydrocephalus Hashimoto thyroiditis Delayed speech and language development Thyroiditis Cognitive impairment Cataract Micropenis Protruding ear Generalized hypotonia Abnormality of the dentition Hypertelorism Vesicoureteral reflux Cryptorchidism Failure to thrive Strabismus Platybasia Graves disease Seborrheic dermatitis Hypogonadotrophic hypogonadism Truncus arteriosus Hypoplasia of the uterus Meningocele Hypoparathyroidism Vitiligo Bipolar affective disorder Posterior embryotoxon Cholelithiasis Nasal speech Impaired T cell function Ptosis Pain Schizophrenia Epicanthus Hypocalcemia Spina bifida Wide nasal bridge Hallucinations Dental malocclusion Downslanted palpebral fissures Hyperkinesis Psychosis Tetralogy of Fallot Peripheral demyelination Specific learning disability Renal dysplasia Muscle stiffness Premature ovarian insufficiency Hearing abnormality Upslanted palpebral fissure Hyperactivity Respiratory failure Macrotia Retrognathia Hydronephrosis Abnormal eyelid morphology Intellectual disability, moderate Attention deficit hyperactivity disorder Heterotopia Abnormal thrombocyte morphology Cafe-au-lait spot Choanal atresia Gastrointestinal hemorrhage Otitis media Pneumonia Growth delay Respiratory insufficiency Intrauterine growth retardation Gait disturbance Male pseudohermaphroditism Premature thelarche Prominent eyelashes Decreased urinary potassium Liver abscess Sclerosing cholangitis Single ventricle Vertebral clefting Crossed fused renal ectopia Common atrium Epibulbar dermoid Abnormality of the middle ear Recurrent aspiration pneumonia Babinski sign Prominent fingertip pads Biliary atresia Bronchomalacia Eversion of lateral third of lower eyelids Pilonidal sinus Short nasal septum Tall stature Polycystic ovaries Clitoral hypertrophy Spontaneous abortion Frontal bossing Peripheral neuropathy Gonadal dysgenesis Sensorineural hearing impairment Congenital mitral stenosis Sex reversal Transient hypophosphatemia Dystonia Infertility Thyrotoxicosis with toxic multinodular goitre Abnormality of metabolism/homeostasis Nocturnal lagophthalmos Thyrotoxicosis with toxic single thyroid nodule Vertical orbital dystopia Dysarthria Anoperineal fistula Recurrent ear infections Diaphragmatic eventration Increased body weight Cupped ear Precocious puberty Brittle hair Failure to thrive in infancy Abnormality of female external genitalia Poor suck Abnormality of the urinary system Abnormal dermatoglyphics Hyperbilirubinemia Horseshoe kidney Congenital hip dislocation Sparse and thin eyebrow Preauricular pit Testicular dysgenesis Ovotestis Abnormal vertebral morphology Long eyelashes Recurrent otitis media Small nail Blue sclerae Coarctation of aorta Congenital diaphragmatic hernia Microdontia Growth hormone deficiency Bilateral cryptorchidism Hydroureter Ureteropelvic junction obstruction Short 5th finger Gonadoblastoma Hypogonadism Anterior plagiocephaly Trichorrhexis nodosa Absence of secondary sex characteristics Broad philtrum Small face Cholangitis Optic nerve coloboma Mitral stenosis Retinal coloboma Depressed nasal tip Bundle branch block Short columella Scaphocephaly Overweight Perineal hypospadias IgA deficiency Congenital hypothyroidism Cerebellar vermis atrophy Transposition of the great arteries Severe hearing impairment Long palpebral fissure Celiac disease Right bundle branch block Alopecia Sensory neuropathy Diabetes mellitus Myelitis Myotonia Ventricular fibrillation Spasticity Hyperkalemia Mildly elevated creatine phosphokinase Prolonged QT interval Rhabdomyolysis Hypomagnesemia Nystagmus Heat intolerance Abnormality of peripheral nerve conduction Hypokalemia Recurrent singultus Functional abnormality of the bladder CSF pleocytosis Optic neuritis Abnormality of brain morphology Urinary retention Neuritis Ocular pain Periodic paralysis Abnormality of muscle fibers Ophthalmoparesis Goiter Impaired myocardial contractility Hyporeflexia Diplopia Memory impairment Urinary incontinence Confusion Paresthesia Emotional lability Brain neoplasm CNS demyelination Urinary hesitancy Hypertension Hyperhidrosis Visual impairment Weight loss Proptosis Lower limb muscle weakness Scarring Tachycardia Difficulty walking Muscle cramps Headache Tetraplegia Palpitations EMG abnormality Postprandial hyperglycemia Autoimmune antibody positivity High forehead Bilateral sensorineural hearing impairment Flat occiput Sparse eyebrow Hyperlipidemia Hypergonadotropic hypogonadism Choreoathetosis Episodic hypokalemia Sparse scalp hair Myocardial infarction Fine hair Abnormality of extrapyramidal motor function Dehydration Thyrotoxicosis with diffuse goiter Decreased testicular size Triangular face Polyneuropathy Incoordination Abnormality of movement Delayed puberty Hypotrichosis Arthrogryposis multiplex congenita Sparse hair Camptodactyly Aplasia/Hypoplasia of the eyebrow Insulin-resistant diabetes mellitus Shortened PR interval Episodic flaccid weakness Increased intramyocellular lipid droplets Periodic hypokalemic paresis Neuronal loss in central nervous system Sensory impairment Nausea Paraplegia Vomiting Exercise-induced muscle fatigue Late-onset proximal muscle weakness Respiratory paralysis Progressive alopecia Heart block Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Increased thyroid-stimulating hormone level Second degree atrioventricular block Abnormal spermatogenesis Abnormal T-wave Decreased serum estradiol Decreased serum testosterone level Anodontia Decreased antibody level in blood Chronic otitis media Hypodontia Progressive vitiligo Pulmonic stenosis Congenital cataract Blepharophimosis Aggressive behavior Dementia Absent speech Cerebellar atrophy Intellectual disability, severe Hypoplasia of the corpus callosum Fever Mastoiditis Bifid uvula Malar prominence Dysgammaglobulinemia Penoscrotal hypospadias Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria B lymphocytopenia Decrease in T cell count Abnormal hair quantity Rhabdomyosarcoma Glioma Dysmetria Chorea Medulloblastoma Apathy Delusions Submucous cleft hard palate Axonal loss Basal ganglia calcification Abnormality of the ear Myopathic facies Inflammation of the large intestine Hypoplasia of the brainstem Unilateral renal agenesis Obsessive-compulsive behavior Psoriasiform dermatitis Underdeveloped nasal alae Rheumatoid arthritis Dysdiadochokinesis Abnormality of the hand Arnold-Chiari malformation Bicuspid aortic valve Holoprosencephaly Narrow palpebral fissure Multicystic kidney dysplasia Open mouth Low posterior hairline Renal agenesis Abnormality of chromosome stability Recurrent sinopulmonary infections Myelomeningocele Abnormal platelet aggregation Cleft upper lip Leukemia Small for gestational age Abnormality of the nervous system Recurrent respiratory infections Skeletal muscle atrophy Depressed nasal bridge Ataxia Reduced prothrombin consumption Absence of alpha granules Abnormal platelet function Lymphoma Anisopoikilocytosis Myelofibrosis Increased mean platelet volume Ecchymosis Anisocytosis Prolonged bleeding time Petechiae Menorrhagia Epistaxis Abnormal bleeding Bruising susceptibility Neurodegeneration Convex nasal ridge B-cell lymphoma Deep philtrum Recurrent bronchitis Acute leukemia Acute lymphoblastic leukemia Neuroblastoma Abnormality of the musculature Freckling Long nose Non-midline cleft lip Combined immunodeficiency Abnormality of neuronal migration Cachexia Sloping forehead Recurrent pneumonia Low anterior hairline Lymphopenia Abnormality of the hair Sinusitis Telangiectasia Bronchiectasis Chronic diarrhea Recurrent urinary tract infections Abnormality of the face Cutaneous photosensitivity Pierre-Robin sequence Echolalia Single transverse palmar crease Hypoplasia of the thymus Tricuspid atresia Multiple suture craniosynostosis Abnormal aortic arch morphology Hypertensive crisis Retinal arteriolar tortuosity Abnormal pulmonary valve morphology Arrhinencephaly Small earlobe Abnormality of the pharynx Abnormal aortic valve morphology Tetany Occipital myelomeningocele Corneal neovascularization Abnormality of the uterus Chronic obstructive pulmonary disease Atelectasis Varicose veins Abnormality of the skull Multiple renal cysts Turricephaly Abnormal lung lobation Foot polydactyly Bowel incontinence Abnormality of the tonsils Feeding difficulties Overfolded helix Postnatal growth retardation Highly arched eyebrow Hirsutism Wide nose Polymicrogyria Joint hypermobility Astigmatism Malabsorption Abnormal cardiac septum morphology Coloboma Respiratory tract infection Abnormality of the kidney Brachydactyly Joint laxity Hypoglycemia Jaundice Pes planus Severe short stature Clinodactyly Dilatation Renal insufficiency Kyphosis Abnormality of the skeletal system Myopia Dysphasia Abnormality of the thorax Abnormality of the endocrine system Conotruncal defect Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Arteria lusoria Aplasia of the thymus Psychotic episodes Velopharyngeal insufficiency Low-set ears Giant platelets Retinal vascular tortuosity Paranoia Duodenal stenosis Right aortic arch Mood swings Perimembranous ventricular septal defect Interrupted aortic arch Aplasia of the uterus Juvenile rheumatoid arthritis Pulmonary artery atresia Unilateral primary pulmonary dysgenesis Optic atrophy Hand polydactyly Carious teeth Polycystic kidney dysplasia Laryngomalacia Hypopigmented skin patches Abnormality of dental enamel Aganglionic megacolon Renal hypoplasia Asthma Long face Arachnodactyly Joint hyperflexibility Short philtrum Talipes equinovarus Telecanthus Myalgia Gastroesophageal reflux Polyhydramnios Narrow mouth Autism Glaucoma Microphthalmia Malar flattening Long philtrum Splenomegaly True hermaphroditism



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