Autoimmunity, and Bulbous nose

Diseases related with Autoimmunity and Bulbous nose

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


Top matches:

Medium match CERNUNNOS-XLF DEFICIENCY


Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.

CERNUNNOS-XLF DEFICIENCY Is also known as combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome|cernunnos xlfd|nhej1 deficiency|scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with microcephaly, growth retardation, and

Related symptoms:

  • Microcephaly
  • Growth delay
  • Anemia
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CERNUNNOS-XLF DEFICIENCY

Medium match MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA


Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (OMIM ), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA Is also known as osteolysis, hereditary multicentric|torg syndrome|al-aqeel sewairi syndrome|nodulosis-arthropathy-osteolysis syndrome|torg-winchester syndrome, formerly|nao syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

Medium match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

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Other less relevant matches:

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

Medium 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 FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3


The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD3 is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin (summary by Slavotinek et al., 2013).FFDD2 (OMIM ) is characterized by the same facial features as FFDD3, but the inheritance is autosomal dominant.For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (OMIM ).

FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 Is also known as focal facial dermal dysplasia, type ii, formerly|bitemporal forceps marks syndrome|facial ectodermal dysplasia|setleis syndrome

Related symptoms:

  • Global developmental delay
  • Depressed nasal bridge
  • Upslanted palpebral fissure
  • Sparse hair
  • Scarring


SOURCES: OMIM MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3

Low match GELEOPHYSIC DYSPLASIA 3; GPHYSD3


Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA 3; GPHYSD3

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7

Low match GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME


Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.

GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME Is also known as chromosome 17q24.2-q24.3 deletion syndrome|chromosome 17q24.2-q24.3 duplication syndrome|microdeletion 17q24.2-q24.3 syndrome|congenital generalized hypertrichosis terminalis|hirsutism-congenital gingival hyperplasia syndrome|microduplication 17q24.2-q24.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Bulbous nose

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Immunodeficiency Thrombocytopenia Hypothyroidism Scoliosis Hearing impairment Short neck Cognitive impairment Arthritis Micrognathia Global developmental delay Recurrent infections Anemia Specific learning disability Bipolar affective disorder Tetralogy of Fallot Fever Abnormality of the pinna Seborrheic dermatitis Depressed nasal bridge Truncus arteriosus Meningocele Hypoparathyroidism Thick vermilion border Posterior embryotoxon Umbilical hernia Acne Anal atresia Cholelithiasis Nasal speech Schizophrenia Purpura Hypocalcemia Spina bifida Growth delay Impaired T cell function Intrauterine growth retardation Cleft palate Hypertelorism Hydrocephalus Abnormality of the dentition Inguinal hernia Cataract Patent ductus arteriosus Delayed speech and language development Atrial septal defect Ventricular septal defect Obesity Abnormality of cardiovascular system morphology Behavioral abnormality

Rare Symptoms - Less than 30% cases


Retrognathia Bifid uvula Chorea High palate Vesicoureteral reflux Muscular hypotonia Generalized hypotonia Renal agenesis Hemolytic anemia Ataxia Hypoplasia of the corpus callosum Low anterior hairline Hyperactivity Intellectual disability, severe Macrotia Hypospadias Blepharophimosis Depressivity Anxiety Abnormal heart morphology Conductive hearing impairment Posteriorly rotated ears Downslanted palpebral fissures Arnold-Chiari malformation Amenorrhea Narrow mouth Right aortic arch with mirror image branching Small earlobe Sacral meningocele Strabismus Ptosis Low-set ears Microphthalmia Autism Telecanthus Aplasia of the thymus Attention deficit hyperactivity disorder Short philtrum Short palpebral fissure Tetany Hypoplasia of the thymus Failure to thrive Epicanthus Wide nasal bridge Upslanted palpebral fissure Arteria lusoria Conotruncal defect Low posterior hairline Autoimmune thrombocytopenia Renal dysplasia Bicuspid aortic valve Long philtrum Rheumatoid arthritis Psoriasiform dermatitis Unilateral renal agenesis Inflammation of the large intestine Epiphyseal dysplasia Vitiligo Retinal vascular tortuosity Myelomeningocele Juvenile rheumatoid arthritis Aplasia of the uterus Graves disease Interrupted aortic arch Perimembranous ventricular septal defect Platybasia Right aortic arch Duodenal stenosis Autoimmune hemolytic anemia Primary amenorrhea Hirsutism Kyphosis Scarring Abnormality of the kidney Dementia Pneumonia Generalized hypertrichosis Flexion contracture Brachydactyly Gait disturbance Abnormality of the ear Hypermelanotic macule Lymphopenia Abnormality of the thorax Gingival overgrowth Thickened skin Hypertrichosis Delayed eruption of teeth Small hand Kyphoscoliosis Osteopenia Coarse facial features Corneal opacity Astigmatism Cerebellar atrophy Febrile seizures EEG abnormality Splenomegaly Intellectual disability, mild Thickened helices Talipes equinovarus Bird-like facies Optic atrophy Macrocephaly Cryptorchidism Malar flattening Wide mouth Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Esophoria B lymphocytopenia Constipation Abnormality of the thymus Joint hyperflexibility Choanal atresia Renal hypoplasia Gastrointestinal hemorrhage Intestinal malrotation Asthma Long face Arachnodactyly Carious teeth Decrease in T cell count Prominent nasal bridge Feeding difficulties in infancy Myalgia Gastroesophageal reflux Polyhydramnios Recurrent viral infections Glaucoma Vascular tortuosity Abnormality of the middle ear Abnormality of dental enamel Deep philtrum Microtia Relative macrocephaly Osteoporosis Diabetes mellitus Craniosynostosis Cleft lip Brachycephaly Hydronephrosis Polymicrogyria Peritonitis Proptosis Gingival fibromatosis Hypertonia Wide nasal base Thick nasal alae Thoracic kyphoscoliosis Generalized tonic-clonic seizures Iris coloboma Perisylvian polymicrogyria Overgrowth Alcoholism Femoral hernia Frontal bossing Anterior segment developmental abnormality Synophrys Thick eyebrow Sclerocornea Depressed nasal ridge Widely spaced teeth Exotropia Amblyopia Broad thumb Pes cavus Coarctation of aorta High, narrow palate Generalized hirsutism Aganglionic megacolon Hypopigmented skin patches Severe global developmental delay Aplasia cutis congenita Hepatomegaly Aged leonine appearance Absent lower eyelashes Multiple rows of eyelashes Distichiasis Periorbital fullness Absent eyelashes Abnormality of the sternum Respiratory failure Dermal atrophy Conjunctivitis Sloping forehead Ectodermal dysplasia Broad nasal tip Single transverse palmar crease Narrow forehead Anteverted nares Dyspnea Sparse hair Subglottic stenosis Small for gestational age Autistic behavior Deeply set eye Decreased antibody level in blood Cerebral cortical atrophy Feeding difficulties Convex nasal ridge Pulmonary artery stenosis Apnea Sleep apnea Hoarse voice Mitral regurgitation Limb undergrowth Round face Full cheeks Joint stiffness Pectus carinatum Occipital myelomeningocele Laryngomalacia Abnormal lung lobation Varicose veins Abnormal eyelid morphology Abnormality of the skull Multiple renal cysts Neoplasm Patellar dislocation Turricephaly Foot polydactyly Hallux valgus Hyperthyroidism Bowel incontinence Dysphasia Chronic otitis media Overfolded helix Hand polydactyly Polycystic kidney dysplasia Atelectasis Failure to thrive in infancy Abnormality of the tonsils Abnormal pulmonary valve morphology Tricuspid atresia Multiple suture craniosynostosis Abnormal aortic arch morphology Hypertensive crisis Retinal arteriolar tortuosity Eczema Anorectal anomaly Arrhinencephaly Chronic obstructive pulmonary disease Recurrent bacterial infections Hypotelorism Abnormality of the pharynx Abnormal aortic valve morphology Thick lower lip vermilion Abnormal thrombocyte morphology Corneal neovascularization Abnormality of the uterus Arthralgia Brain atrophy Unilateral primary pulmonary dysgenesis Mucopolysacchariduria Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Hypoplasia of the capital femoral epiphysis Premature arteriosclerosis Arteriosclerosis Right ventricular cardiomyopathy Cellular immunodeficiency Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy Moyamoya phenomenon Anterior pituitary dysgenesis B-cell lymphoma Stroke Headache Thin upper lip vermilion Proteinuria Hernia Absent speech Developmental regression Hyperlordosis Hip dislocation Nephrosclerosis Platyspondyly Malabsorption Stage 5 chronic kidney disease Abnormality of skin pigmentation Nephropathy Neutropenia Abnormal cerebellum morphology Lateral displacement of the femoral head Lymphoproliferative disorder Disproportionate short-trunk short stature Congestive heart failure Abnormal lung morphology Hyperlipidemia Atherosclerosis Opacification of the corneal stroma Bone marrow hypocellularity Abnormality of epiphysis morphology Heterotopia Abnormal form of the vertebral bodies Fine hair Reduced bone mineral density Intellectual disability, profound Lumbar hyperlordosis Nephrotic syndrome Microdontia Decreased testicular size Waddling gait Lymphoma Premature birth Azoospermia Coarse hair Ovoid vertebral bodies High pitched voice Thoracic kyphosis Transient ischemic attack Abnormality of the vasculature Protuberant abdomen Glomerulopathy Multiple cafe-au-lait spots Steatorrhea Combined immunodeficiency Emphysema Chronic kidney disease Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Melanocytic nevus Nephritis Glomerulonephritis Gliosis Glomerulosclerosis Encephalitis Renal insufficiency Diarrhea Unilateral lung agenesis Anal stenosis Pierre-Robin sequence Delusions Hearing abnormality Abnormality of the thyroid gland Narrow nasal bridge Arthropathy Hip contracture Ankle contracture Abnormality of the endocrine system Submucous cleft hard palate Axonal loss Ankylosis Basal ganglia calcification Myopathic facies Antinuclear antibody positivity Hypoplasia of the brainstem Vertebral compression fractures Echolalia Pulmonary artery atresia Obsessive-compulsive behavior Giant platelets Pes planus Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Migraine Psychotic episodes Velopharyngeal insufficiency Hypoplasia of the maxilla Metaphyseal widening Paranoia Interphalangeal joint contracture of finger Split hand Mood swings Subcutaneous nodule Decreased body weight Knee flexion contracture Osteolysis Generalized osteoporosis Apathy Vomiting Dysmetria Interphalangeal joint erosions Widened metacarpal shaft Underdeveloped nasal alae Ankylosis of feet small joints Peripheral opacification of the cornea Thin metatarsal cortices Distal tapering of metatarsals Sclerotic cranial sutures Peripheral demyelination Pulmonic stenosis Congenital cataract Motor delay Hypertension Mental deterioration Aggressive behavior Myopia Cardiomyopathy Osteolysis involving tarsal bones Thin metacarpal cortices Delayed closure of the anterior fontanelle C1-C2 subluxation Wrist flexion contracture Dysdiadochokinesis Camptodactyly of toe Abnormality of the hand Broad metatarsal Protrusio acetabuli Contractures of the large joints Holoprosencephaly Narrow palpebral fissure Psychosis Multicystic kidney dysplasia Finger swelling Severe generalized osteoporosis Hallucinations Metacarpal osteolysis Open mouth Metatarsal osteolysis Carpal osteolysis Congenital, generalized hypertrichosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Hypotelorism, related diseases and genetic alterations

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