Autoimmunity, and Hernia

Diseases related with Autoimmunity and Hernia

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


Top matches:

Low match COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM


COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM Is also known as cid-mia/early-onset ibd

Related symptoms:

  • Intrauterine growth retardation
  • Ventricular septal defect
  • Immunodeficiency
  • Polyhydramnios
  • Sparse hair


SOURCES: ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM

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 MULTIPLE INTESTINAL ATRESIA


Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.

MULTIPLE INTESTINAL ATRESIA Is also known as intestinal atresia, multiple|minat|intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency|fipa|familial intestinal polyatresia syndrome

Related symptoms:

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Abnormality of the skeletal system
  • Ventricular septal defect


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MULTIPLE INTESTINAL ATRESIA

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Other less relevant matches:

Low match EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE


Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.

EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE Is also known as ehlers-danlos syndrome, periodontitis type|ehlers-danlos syndrome, periodontosis type|ehlers-danlos syndrome, type viii|ehlers-danlos syndrome type 8|eds viii|eds8

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE

Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1


Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

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

Low 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

Low match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

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

Top 5 symptoms//phenotypes associated to Autoimmunity and Hernia

Symptoms // Phenotype % cases
Umbilical hernia Common - Between 50% and 80% cases
Inguinal hernia Common - Between 50% and 80% cases
Arthritis Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Ventricular septal defect Short stature Hypertelorism Short neck Hearing impairment Hydrocephalus Global developmental delay Generalized hypotonia Cataract Cleft palate Muscular hypotonia Behavioral abnormality Cognitive impairment Recurrent infections Psoriasiform dermatitis Hypoplasia of the thymus Autoimmune hemolytic anemia Tall stature Splenomegaly Talipes equinovarus Abnormality of the dentition Intellectual disability, mild Pain Micrognathia Seizures Duodenal stenosis Microcephaly Inflammation of the large intestine Hemolytic anemia Anal atresia Malar flattening Intrauterine growth retardation Abnormal facial shape Purpura Strabismus Impaired T cell function Seborrheic dermatitis Truncus arteriosus Meningocele Hypoparathyroidism Bipolar affective disorder Posterior embryotoxon Acne Cholelithiasis Nasal speech Schizophrenia Hypocalcemia Delayed speech and language development Spina bifida Tetralogy of Fallot Specific learning disability Bulbous nose Anxiety Hypothyroidism Patent ductus arteriosus Depressivity Obesity Thrombocytopenia Abnormality of cardiovascular system morphology Growth delay Anemia Atrial septal defect Joint hyperflexibility Polyhydramnios Intestinal malrotation Dilatation

Rare Symptoms - Less than 30% cases


Psychosis Respiratory distress Pulmonic stenosis High palate Telecanthus Fever Hypoplasia of the corpus callosum Intellectual disability, severe Cerebellar atrophy Microphthalmia Narrow mouth Short philtrum Low-set ears Hypospadias Abnormality of the ductus choledochus Peritoneal abscess Abnormal heart morphology Ptosis Posteriorly rotated ears Congenital cystic adenomatoid malformation of the lung Attention deficit hyperactivity disorder Tetany Amblyopia Kyphosis Bowel incontinence Chronic otitis media Hoarse voice Nystagmus Sensorineural hearing impairment Muscle weakness Nail dystrophy Myopia Gait disturbance Coarctation of aorta Midface retrusion Conductive hearing impairment Glaucoma Skeletal dysplasia Respiratory tract infection Pectus carinatum Broad forehead Genu valgum Retinal degeneration Optic atrophy Epicanthus Bowing of the legs Retrognathia Mental deterioration Gastrointestinal atresia Thickened skin Absent eyebrow Aplasia of the thymus Rheumatoid arthritis Conotruncal defect Unilateral renal agenesis Type I diabetes mellitus Retinal vascular tortuosity Sparse hair Right aortic arch Autoimmune thrombocytopenia Omphalocele Arteria lusoria Vitiligo Hepatitis Platybasia Delusions Perimembranous ventricular septal defect Abdominal distention Myelomeningocele Interrupted aortic arch Graves disease Aplasia of the uterus Hashimoto thyroiditis Alopecia of scalp Patellar dislocation Amenorrhea Abnormality of the pinna Blepharophimosis Dysmetria Jejunoileal ulceration Bifid uvula Chorea Vesicoureteral reflux Sacral meningocele Renal agenesis Rectal abscess Peripheral demyelination Arnold-Chiari malformation Bloody diarrhea Right aortic arch with mirror image branching Low posterior hairline Primary amenorrhea Renal dysplasia Hallucinations Ectopic calcification Intestinal atresia Severe combined immunodeficiency Bicuspid aortic valve Hypertrichosis Mitral regurgitation Juvenile rheumatoid arthritis Scarring Gingival overgrowth Osteoarthritis Arachnodactyly Carious teeth Hypertension Hepatomegaly Congestive heart failure Flexion contracture Cutis laxa Neoplasm Decreased antibody level in blood Heart murmur Mandibular prognathia Macrotia Abnormality of the skeletal system Hepatosplenomegaly Unilateral lung agenesis Long face Wide nasal bridge Downslanted palpebral fissures Long philtrum Asthma Constipation Upslanted palpebral fissure Abnormality of the tonsils Prominent nasal bridge Autism Failure to thrive Gastroesophageal reflux Tricuspid atresia Unilateral primary pulmonary dysgenesis Myalgia Feeding difficulties in infancy Cryptorchidism Arrhinencephaly Multiple suture craniosynostosis Generalized abnormality of skin Generalized tonic-clonic seizures Microtia Oligosacchariduria Spondylolysis Craniosynostosis Increased vertebral height Increased hepatic glycogen content Abnormality of the kidney Cleft lip Decreased pulmonary function Hypertonia Hypoplastic inferior ilia Abnormality of the ilium Abnormality of joint mobility Hydronephrosis Antineutrophil antibody positivity Abnormality of dental structure Progressive joint destruction Synovial hypertrophy Flattened moderately deformed vertebrae Spinocerebellar tract disease in lower limbs Renal hypoplasia Abnormal aortic arch morphology Velopharyngeal insufficiency Multiple renal cysts Abnormality of the skull Abnormal eyelid morphology Varicose veins Psychotic episodes Atelectasis Chronic obstructive pulmonary disease Abnormality of the uterus Giant platelets Abnormal lung lobation Corneal neovascularization Paranoia Abnormal pulmonary valve morphology Abnormal thrombocyte morphology Abnormal aortic valve morphology Mood swings Abnormality of the pharynx Small earlobe Turricephaly Foot polydactyly Gastrointestinal hemorrhage Polycystic kidney dysplasia Choanal atresia Aganglionic megacolon Abnormality of dental enamel Hypopigmented skin patches Hypertensive crisis Laryngomalacia Polymicrogyria Retinal arteriolar tortuosity Anorectal anomaly Hyperthyroidism Congenital conductive hearing impairment Hand polydactyly Abnormality of the thorax Overfolded helix Perineal fistula Vascular ring Dysphasia Central nervous system degeneration Astigmatism Impaired smooth pursuit Iris coloboma Abnormality of the foot Dental malocclusion Delayed myelination Gliosis Progressive cerebellar ataxia Macroglossia Neurodegeneration Highly arched eyebrow Thick eyebrow Confusion Hypermetropia Hip dysplasia Abnormality of the cerebral white matter Neurological speech impairment Dysostosis multiplex Hydrocele testis Reduced ejection fraction Corneal opacity Coarse facial features Abnormality of the helix Osteopenia Otitis media Optic disc pallor Kyphoscoliosis Prominent supraorbital ridges Aseptic necrosis Limb dystonia Bronchitis Thickened calvaria Abnormality of the sternum Femoral bowing Neurodevelopmental delay Open bite Flat occiput Increased intracranial pressure Type II diabetes mellitus Widely spaced teeth Recurrent bacterial infections Narrow palate Low anterior hairline Spastic gait Limb ataxia Bowing of the long bones Progressive neurologic deterioration Depressed nasal ridge Pancytopenia Spondylolisthesis Craniofacial hyperostosis High, narrow palate Retinal thinning Ataxia Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Esophoria Vascular tortuosity Abnormality of the thymus Abnormality of the middle ear Depressed nasal bridge Perisylvian polymicrogyria Alcoholism Femoral hernia Anterior segment developmental abnormality Cerebral dysmyelination Sclerocornea Exotropia Severe sensorineural hearing impairment Broad thumb Short palpebral fissure Spasticity Motor delay Gait ataxia Areflexia Prominent forehead Abnormality of the rib cage Abnormal cornea morphology Recurrent respiratory infections Babinski sign Synovitis Abnormal echocardiogram Thoracolumbar kyphosis Delayed skeletal maturation Cerebral atrophy Long ear Vacuolated lymphocytes Myopathy Ventriculomegaly Cranial hyperostosis Frontal bossing Abnormality of the gingiva Macrocephaly Skeletal muscle atrophy Dysarthria Hyperreflexia Synostosis of joints Premature skin wrinkling Pulmonary artery atresia Mitral stenosis Atrophy of alveolar ridges Severe periodontitis Intestinal perforation Gingival recession Premature loss of permanent teeth Palmoplantar cutis laxa Cigarette-paper scars Poor wound healing Premature loss of primary teeth Chronic pain Generalized joint laxity Systemic lupus erythematosus Periodontitis Gingivitis Soft skin Subarachnoid hemorrhage Gingival bleeding Premature loss of teeth Striae distensae Abnormal joint morphology Fragile skin Skin vesicle Alveolar bone loss around teeth Venous thrombosis Atrophic scars Hypertriglyceridemia Clitoral hypertrophy Lipodystrophy Hyperinsulinemia Polycystic ovaries Hyperlipidemia Acanthosis nigricans Accelerated skeletal maturation Insulin resistance Nephrolithiasis Abnormality of the genital system Epidermal acanthosis Peripheral neuropathy Triangular face Nephropathy Hepatic steatosis Hirsutism Cirrhosis Hypertrophic cardiomyopathy Elevated hepatic transaminase Diabetes mellitus Hyperhidrosis Aortic regurgitation Cardiomyopathy Long nose Agenesis of permanent teeth Skeletal muscle hypertrophy Sepsis Microcolon Aortic root aneurysm Duodenal atresia Hematochezia Abnormality of abdomen morphology Thyroiditis Combined immunodeficiency Pulmonary artery stenosis Abnormal intestine morphology Lymphopenia Heart block Decreased proportion of CD8-positive T cells Aortic dissection Small for gestational age Alopecia Diarrhea Raynaud phenomenon Right ventricular hypertrophy Repeated pneumothoraces Aortic rupture Bowel diverticulosis Uterine prolapse Subglottic stenosis Jejunal atresia Prematurely aged appearance Hypermelanotic macule Microdontia Urticaria Dermal atrophy Hyperextensible skin Osteolysis Joint dislocation Vasculitis Redundant skin Thin skin Fine hair Blue sclerae Bruising susceptibility Abnormal heart valve morphology Joint hypermobility Erythema Joint laxity Aortic aneurysm Pes planus Arthralgia Osteoporosis Stridor Edema Emphysema Infantile spasms Large hands High pitched voice Abnormality of the endocrine system Retinoschisis Fatigue Renal insufficiency Respiratory failure Dyspnea Skin rash Delayed calcaneal ossification Limitation of knee mobility Neonatal short-trunk short stature Sciatica Delayed pubic bone ossification Limited hip movement Feeding difficulties Cervical myelopathy Flattened epiphysis Limited elbow movement Myelopathy Ovoid vertebral bodies Barrel-shaped chest Vitreoretinopathy Hypoplasia of the odontoid process Disproportionate short stature Progressive sensorineural hearing impairment Restrictive ventilatory defect Absent speech Recurrent abscess formation Vestibular dysfunction Obsessive-compulsive behavior Echolalia Pierre-Robin sequence Hearing abnormality Anal stenosis Submucous cleft hard palate Axonal loss Basal ganglia calcification Abnormality of the ear Myopathic facies Hypoplasia of the brainstem Apathy Dementia Dysdiadochokinesis Abnormality of the hand Holoprosencephaly Narrow palpebral fissure Multicystic kidney dysplasia Open mouth Upper airway obstruction Underdeveloped nasal alae Congenital cataract Aggressive behavior Hyperactivity Short thorax Spondyloepiphyseal dysplasia Polyphagia Congenital generalized lipodystrophy Ventricular hypertrophy Abnormality of the face Bronchiectasis Generalized muscular appearance from birth Labial hypertrophy Cystic angiomatosis of bone Reduced intrathoracic adipose tissue Insulin-resistant diabetes mellitus at puberty Prominent umbilicus Decreased serum leptin Decreased fertility in females Severe short stature Generalized lipodystrophy Acute pancreatitis Glioma Bone cyst Abnormality of the ovary Angina pectoris Long foot Oligomenorrhea Abnormality of lipid metabolism Insulin-resistant diabetes mellitus Lipoatrophy Full cheeks Polydactyly Back pain High myopia Genu varum Growth abnormality Sleep apnea Coxa vara Rhizomelia Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Abnormality of the metaphysis Abnormal lung morphology Lumbar hyperlordosis Limb undergrowth Apnea Waddling gait Limitation of joint mobility Retinal detachment Pulmonary hypoplasia Flat face Paresthesia Micromelia Narrow chest Platyspondyly Hip dislocation Hyperlordosis Occipital myelomeningocele



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

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