Autoimmunity, and Congenital diaphragmatic hernia

Diseases related with Autoimmunity and Congenital diaphragmatic hernia

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


Top 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 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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY; HHRRD


Humerofemoral hypoplasia with radiotibial ray deficiency is a severe dysostosis characterized by reduction of all 4 limbs as well as hypoplasia of the upper limb girdle and pelvis. Rudimentary finger- or toe-like appendages may be present (Szenker-Ravi et al., 2018).

HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY; HHRRD Is also known as hfhrtrd

Related symptoms:

  • Flexion contracture
  • Talipes equinovarus
  • Hernia
  • Congenital diaphragmatic hernia
  • Pterygium


SOURCES: OMIM MENDELIAN

More info about HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY; HHRRD

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

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 NEURONAL INTESTINAL PSEUDOOBSTRUCTION


Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.

Related symptoms:

  • Recurrent infections
  • Patent ductus arteriosus
  • Abnormal cardiac septum morphology
  • Malabsorption
  • Decreased antibody level in blood


SOURCES: ORPHANET MENDELIAN

More info about NEURONAL INTESTINAL PSEUDOOBSTRUCTION

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

Top 5 symptoms//phenotypes associated to Autoimmunity and Congenital diaphragmatic hernia

Symptoms // Phenotype % cases
Hernia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Autoimmunity and Congenital diaphragmatic hernia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dilatation Umbilical hernia Scoliosis Recurrent infections Ventricular septal defect Autoimmune hemolytic anemia Intestinal malrotation Arthritis Patent ductus arteriosus Hashimoto thyroiditis Anal atresia Hemolytic anemia Psoriasiform dermatitis Decreased antibody level in blood Cleft palate Hearing impairment Growth delay Muscular hypotonia Anemia Inguinal hernia

Rare Symptoms - Less than 30% cases


Jejunoileal ulceration Duodenal stenosis Hypertelorism Anal stenosis Autoimmune thrombocytopenia Thyroiditis Respiratory distress Pain Seizures Osteoarthritis Short neck Inflammation of the large intestine Cataract Tall stature Hoarse voice Mitral regurgitation Renal dysplasia Blue sclerae Coarctation of aorta Microdontia Pulmonic stenosis Vitiligo Scarring Mitral stenosis Abnormality of the ductus choledochus Bloody diarrhea Ectopic calcification Gastrointestinal atresia Intestinal atresia Hypoplasia of the thymus Severe combined immunodeficiency Alopecia of scalp Absent eyebrow Congenital cystic adenomatoid malformation of the lung Peritoneal abscess Cutis laxa Rectal abscess Type I diabetes mellitus Omphalocele Hepatitis Abdominal distention Nail dystrophy Sparse hair Polyhydramnios Intrauterine growth retardation Flexion contracture Talipes equinovarus Thickened skin Purpura Joint hyperflexibility Abnormality of the pinna Abnormality of the dentition Abnormal cardiac septum morphology Intellectual disability, mild Kyphosis Renal insufficiency Obesity Depressivity Hypospadias Abnormal heart morphology Malabsorption Hypertension Severe short stature Posteriorly rotated ears Joint laxity Anxiety Pes planus Macrotia Hypothyroidism Cognitive impairment Diarrhea Respiratory tract infection Atrial septal defect Micrognathia Myopia Global developmental delay Congestive heart failure Hirsutism Feeding difficulties High palate Abnormality of the skeletal system Microcephaly Abnormal facial shape Joint hypermobility Genu varum Growth abnormality Sleep apnea Coxa vara Abnormal form of the vertebral bodies Barrel-shaped chest Rhizomelia Abnormality of epiphysis morphology Spondyloepiphyseal dysplasia Abnormality of the metaphysis Abnormal lung morphology Ovoid vertebral bodies Back pain Restrictive ventilatory defect Bowing of the legs Accelerated skeletal maturation Nephrolithiasis Abnormality of the genital system Hypertrichosis Hypertriglyceridemia High myopia Insulin resistance Vitreoretinopathy Vestibular dysfunction Epidermal acanthosis Hypoplasia of the odontoid process Disproportionate short stature Progressive sensorineural hearing impairment Short thorax Triangular face Lumbar hyperlordosis Angina pectoris Limb undergrowth Prominent umbilicus Gait disturbance High pitched voice Polyphagia Muscle weakness Sensorineural hearing impairment Nystagmus Generalized muscular appearance from birth Labial hypertrophy Cystic angiomatosis of bone Reduced intrathoracic adipose tissue Insulin-resistant diabetes mellitus at puberty Decreased serum leptin Malar flattening Lipoatrophy Congenital generalized lipodystrophy Decreased fertility in females Generalized lipodystrophy Insulin-resistant diabetes mellitus Abnormality of lipid metabolism Acute pancreatitis Glioma Oligomenorrhea Bone cyst Abnormality of the ovary Skeletal muscle hypertrophy Midface retrusion Waddling gait Hyperlipidemia Limitation of joint mobility Retinal detachment Long foot Flat face Retinal degeneration Paresthesia Micromelia Acanthosis nigricans Genu valgum Narrow chest Platyspondyly Hip dislocation Polydactyly Polycystic ovaries Hyperinsulinemia Broad forehead Lipodystrophy Pectus carinatum Clitoral hypertrophy Hyperlordosis Apnea Large hands Skeletal dysplasia Glaucoma Pulmonary hypoplasia Cerebellar atrophy Myelopathy Submucous cleft hard palate Echolalia Myelomeningocele Truncus arteriosus Pierre-Robin sequence Delusions Meningocele Hearing abnormality Hypoparathyroidism Bipolar affective disorder Posterior embryotoxon Axonal loss Pulmonary artery atresia Basal ganglia calcification Abnormality of the ear Myopathic facies Hypoplasia of the brainstem Acne Unilateral renal agenesis Obsessive-compulsive behavior Apathy Rheumatoid arthritis Dysdiadochokinesis Cholelithiasis Abnormality of the endocrine system Juvenile rheumatoid arthritis Abnormality of the hand 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 Seborrheic dermatitis Giant platelets Retinal vascular tortuosity Paranoia Impaired T cell function Right aortic arch Mood swings Platybasia Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Nasal speech Schizophrenia Limited elbow movement Hypoplasia of the corpus callosum Retrognathia Hyperactivity Dementia Thrombocytopenia Absent speech Abnormality of cardiovascular system morphology Behavioral abnormality Hepatic steatosis Intellectual disability, severe Hydrocephalus Fever Aggressive behavior Delayed speech and language development Natal tooth Delayed calcaneal ossification Limitation of knee mobility Neonatal short-trunk short stature Sciatica Delayed pubic bone ossification Retinoschisis Limited hip movement Cervical myelopathy Flattened epiphysis Conductive hearing impairment Mental deterioration Arnold-Chiari malformation Psychosis Bicuspid aortic valve Holoprosencephaly Narrow palpebral fissure Multicystic kidney dysplasia Hypocalcemia Spina bifida Hallucinations Open mouth Primary amenorrhea Low posterior hairline Tetralogy of Fallot Blepharophimosis Peripheral demyelination Amenorrhea Specific learning disability Renal agenesis Underdeveloped nasal alae Vesicoureteral reflux Chorea Bifid uvula Bulbous nose Dysmetria Congenital cataract Nephropathy Erythema Cirrhosis Overweight Small face Cholangitis Optic nerve coloboma Retinal coloboma Short 5th finger Depressed nasal tip Short columella Patellar dislocation Scaphocephaly IgA deficiency Trichorrhexis nodosa Congenital hypothyroidism Cerebellar vermis atrophy Transposition of the great arteries Severe hearing impairment Long palpebral fissure Celiac disease Right bundle branch block Bundle branch block Hydroureter Preauricular pit Broad philtrum Anterior plagiocephaly Cupped ear Crossed fused renal ectopia Vertical orbital dystopia Pilonidal sinus Short nasal septum Eversion of lateral third of lower eyelids Premature thelarche Prominent eyelashes Liver abscess Sclerosing cholangitis Single ventricle Anorectal anomaly Recurrent ear infections Common atrium Vertebral clefting Epibulbar dermoid Abnormality of the middle ear Recurrent aspiration pneumonia Prominent fingertip pads Biliary atresia Bronchomalacia Diaphragmatic eventration Ureteropelvic junction obstruction Bilateral cryptorchidism Precocious puberty Anoperineal fistula Jaundice Coloboma Paralysis Protruding ear Postnatal growth retardation Feeding difficulties in infancy Abnormality of the kidney Intellectual disability, moderate Hydronephrosis Hypoglycemia Micropenis Polymicrogyria Pneumonia Visual loss Clinodactyly Wide nasal bridge Brachydactyly Epicanthus Ptosis Cryptorchidism Strabismus Failure to thrive Astigmatism Wide nose Brittle hair Abnormal vertebral morphology Failure to thrive in infancy Poor suck Abnormality of the urinary system Abnormal dermatoglyphics Hyperbilirubinemia Horseshoe kidney Congenital hip dislocation Increased body weight Sparse and thin eyebrow Cafe-au-lait spot Highly arched eyebrow Long eyelashes Heterotopia Recurrent otitis media Small nail Otitis media Growth hormone deficiency Dental malocclusion Prominent nose Hypodontia Single transverse palmar crease Nocturnal lagophthalmos Congenital mitral stenosis Hypertrophic cardiomyopathy Hypermelanotic macule Gingival bleeding Premature loss of teeth Striae distensae Abnormal joint morphology Fragile skin Skin vesicle Long nose Atrophic scars Agenesis of permanent teeth Urticaria Soft skin Dermal atrophy Hyperextensible skin Osteolysis Joint dislocation Vasculitis Gingival overgrowth Thin skin Fine hair Bruising susceptibility Arachnodactyly Subarachnoid hemorrhage Gingivitis Arthralgia Alveolar bone loss around teeth Elevated hepatic transaminase Hepatosplenomegaly Mandibular prognathia Diabetes mellitus Hyperhidrosis Splenomegaly Cardiomyopathy Hepatomegaly Peripheral neuropathy Atrophy of alveolar ridges Periodontitis 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 Carious teeth Osteoporosis Recurrent abscess formation Redundant skin Pulmonary artery stenosis Aortic root aneurysm Prematurely aged appearance Abnormal heart valve morphology Infantile spasms Emphysema Heart murmur Stridor Aortic aneurysm Systemic lupus erythematosus Aortic dissection Venous thrombosis Aortic regurgitation Bronchiectasis Abnormality of the face Ventricular hypertrophy Full cheeks Skin rash Dyspnea Respiratory failure Fatigue Heart block Raynaud phenomenon Edema Lymphopenia Neoplasm Decreased proportion of CD8-positive T cells Jejunal atresia Microcolon Duodenal atresia Hematochezia Abnormality of abdomen morphology Combined immunodeficiency Abnormal intestine morphology Sepsis Right ventricular hypertrophy Small for gestational age Alopecia Pterygium Repeated pneumothoraces Aortic rupture Bowel diverticulosis Uterine prolapse Subglottic stenosis Upper airway obstruction Premature skin wrinkling Unilateral primary pulmonary dysgenesis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Diabetes mellitus, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more