Autoimmunity, and Bifid uvula

Diseases related with Autoimmunity and Bifid uvula

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


Top matches:

Medium match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2


Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Brachydactyly
  • Fever


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2

Medium 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

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

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Other less relevant matches:

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 MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9


MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9 Is also known as hyaluronidase deficiency|mps ix

Related symptoms:

  • Short stature
  • Scoliosis
  • Cleft palate
  • Pain
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9

Low match HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4


Related symptoms:

  • Short stature
  • Growth delay
  • Cleft palate
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4

Low match BIFID UVULA


Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.

BIFID UVULA Is also known as bifidity of the uvula|uvula, cleft|uvular cleft

Related symptoms:

  • Cleft lip
  • Bifid uvula
  • Submucous cleft soft palate
  • Nasal, dysarthic speech


SOURCES: OMIM ORPHANET MENDELIAN

More info about BIFID UVULA

Low match PGM1-CDG


Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

PGM1-CDG Is also known as glycogen storage disease xiv|gsd14|gsd xiv|congenital disorder of glycosylation type it|cdg syndrome type it|cdg-it|cdg it|cdg1t|cdgit|phosphoglucomutase-1 deficiency|pgm1 deficiency|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation typ

Related symptoms:

  • Short stature
  • Growth delay
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about PGM1-CDG

Low match LIMB-MAMMARY SYNDROME


Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.

LIMB-MAMMARY SYNDROME Is also known as lms

Related symptoms:

  • Cleft palate
  • Syndactyly
  • Hypogonadism
  • Camptodactyly
  • Hypodontia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about LIMB-MAMMARY SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Bifid uvula

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Fever Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cognitive impairment Abnormal facial shape Scoliosis Hypothyroidism Primary amenorrhea Recurrent infections Thrombocytopenia Immunodeficiency Amenorrhea Global developmental delay Cleft lip

Rare Symptoms - Less than 30% cases


Autoimmune thrombocytopenia Submucous cleft hard palate Autoimmune hemolytic anemia Inflammation of the large intestine Dyspnea Unilateral renal agenesis Hypogonadism Renal agenesis Specific learning disability Psoriasiform dermatitis Tetralogy of Fallot Rheumatoid arthritis Low posterior hairline Cholelithiasis Nasal speech Schizophrenia Arnold-Chiari malformation Posterior embryotoxon Purpura Hypocalcemia Spina bifida Renal dysplasia Bicuspid aortic valve Myelomeningocele Bipolar affective disorder Duodenal stenosis Pain Abnormality of the kidney Growth delay Micrognathia Sacral meningocele Right aortic arch with mirror image branching Arteria lusoria Aplasia of the thymus Conotruncal defect Velopharyngeal insufficiency Retinal vascular tortuosity Impaired T cell function Vitiligo Right aortic arch Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Seborrheic dermatitis Juvenile rheumatoid arthritis Hemolytic anemia Truncus arteriosus Pierre-Robin sequence Meningocele Hypoparathyroidism Chorea Acne Bulbous nose Patent ductus arteriosus Microcephaly Posteriorly rotated ears Edema High palate Inguinal hernia Abnormal heart morphology Delayed speech and language development Hearing impairment Obesity Ventricular septal defect Short neck Hypoplasia of the corpus callosum Hydrocephalus Abnormality of cardiovascular system morphology Atrial septal defect Umbilical hernia Retrognathia Behavioral abnormality Arthritis Intellectual disability Vasculitis Abnormality of the pinna Blepharophimosis Depressed nasal bridge Polydactyly Dilatation Limbal edema Abnormality of salivation Intrauterine growth retardation Hallux valgus Hypertension Otitis media Kyphosis Recurrent otitis media Gonadal dysgenesis Keratan sulfate excretion in urine Foot pain Hypoplastic nipples Abnormality of the acetabulum Ectrodactyly Laryngeal edema Heparan sulfate excretion in urine Abnormality of the skin Pharyngeal edema Abnormal epiglottis morphology Lymphoproliferative disorder Leukemia Paresthesia Peripheral axonal neuropathy Nausea Hypotension Hoarse voice Polycystic ovaries Split foot Systemic lupus erythematosus Urticaria Glomerulonephritis Stridor Axonal degeneration Upper airway obstruction Multiple myeloma Tongue edema Abnormality of the larynx Ovarian cyst Chronic lymphatic leukemia Inspiratory stridor Angioedema Facial edema Dermatographic urticaria Edema of the dorsum of hands Cryoglobulinemia Abnormal soft palate morphology Abnormal respiratory system morphology Hypergonadotropic hypogonadism Intestinal edema Abnormality of the uvula Proteinuria Preaxial polydactyly Joint contracture of the hand Dilated cardiomyopathy Intellectual disability, mild Elevated serum creatine phosphokinase Increased intramyocellular lipid droplets Reduced antithrombin III activity Prominent forehead Hypoglycemia Decreased serum insulin-like growth factor 1 Elevated hepatic transaminase Chronic hepatitis Abnormality of the liver Type I transferrin isoform profile Delayed puberty Fatigue Small face Tachycardia Hyperinsulinemic hypoglycemia Hepatic steatosis Malignant hyperthermia Muscle cramps Chest pain Rhabdomyolysis Abnormality of the coagulation cascade Exercise intolerance Hepatitis Cardiac arrest Cardiomyopathy Exercise-induced muscle fatigue Postnatal growth retardation Camptodactyly Nephropathy Hematuria Neutropenia Hypohidrosis Renal cyst Split hand Nail dysplasia Chronic kidney disease Ectodermal dysplasia Hypogonadotrophic hypogonadism Hypodontia Focal segmental glomerulosclerosis Muscle weakness Hyperuricemia Syndactyly Abnormal protein glycosylation Gout Elevated serum creatinine Ankyloglossia Absent uvula Submucous cleft soft palate Type II transferrin isoform profile Cerebral venous thrombosis Nasal, dysarthic speech Increased muscle glycogen content Erythema Hypertonia Weight loss Abnormality of the hand Anal atresia Dysmetria Vesicoureteral reflux Underdeveloped nasal alae Peripheral demyelination Psychosis Open mouth Hallucinations Multicystic kidney dysplasia Narrow palpebral fissure Holoprosencephaly Dysdiadochokinesis Congenital cataract Apathy Obsessive-compulsive behavior Hypoplasia of the brainstem Myopathic facies Abnormality of the ear Basal ganglia calcification Axonal loss Anal stenosis Hearing abnormality Delusions Echolalia Abnormality of the endocrine system Pulmonic stenosis Mental deterioration Platybasia Lymphadenitis Brachydactyly Clinodactyly Pes planus Scarring Everted lower lip vermilion Inflammatory abnormality of the skin Subcutaneous nodule Combined immunodeficiency Episodic fever Recurrent viral infections Periorbital edema Generalized hypotonia Aggressive behavior Muscular hypotonia Cataract Intellectual disability, severe Cerebellar atrophy Absent speech Hernia Hypospadias Depressivity Dementia Hyperactivity Conductive hearing impairment Anxiety Pulmonary artery atresia Mood swings Abdominal pain Abnormality of the thymus Broad thumb Amblyopia Exotropia Sclerocornea Tetany Anterior segment developmental abnormality Hypoplasia of the thymus Femoral hernia Alcoholism Perisylvian polymicrogyria Abnormality of the middle ear Vascular tortuosity Coarctation of aorta Esophoria Accommodative esotropia Decreased circulating parathyroid hormone level Parathyroid hypoplasia Parathyroid agenesis Type I truncus arteriosus Peripheral neuropathy Dysphagia Respiratory distress Vomiting Diarrhea Abnormality of metabolism/homeostasis Short palpebral fissure High, narrow palate Paranoia Ptosis Giant platelets Psychotic episodes Central nervous system degeneration Vascular ring Perineal fistula Congenital conductive hearing impairment Unilateral lung agenesis Unilateral primary pulmonary dysgenesis Hypertelorism Neoplasm Strabismus Low-set ears Iris coloboma Flexion contracture Microphthalmia Narrow mouth Hydronephrosis Telecanthus Craniosynostosis Attention deficit hyperactivity disorder Short philtrum Microtia Generalized tonic-clonic seizures Astigmatism Polymicrogyria Lacrimal duct atresia



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