Autoimmunity, and Pulmonary hypoplasia

Diseases related with Autoimmunity and Pulmonary hypoplasia

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


Top matches:

Medium 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 NEPHRONOPHTHISIS 2; NPHP2


NEPHRONOPHTHISIS 2; NPHP2 Is also known as nph2

Related symptoms:

  • Global developmental delay
  • Anemia
  • Hypertension
  • Hepatomegaly
  • Respiratory insufficiency


SOURCES: OMIM MESH MENDELIAN

More info about NEPHRONOPHTHISIS 2; NPHP2

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Other less relevant matches:

Low match AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE


Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|pkhd1|arpkd|ar-pkd|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|pkd3, formerly

Related symptoms:

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Low match LYMPHEDEMA, HEREDITARY, IA; LMPH1A


Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014). Genetic Heterogeneity of Hereditary Primary LymphedemaPrimary lymphedema is genetically heterogeneous: see also LMPH1B (OMIM ), which maps to chromosome 6q16.2-q22.1; LMPH1C (OMIM ), caused by mutation in the GJC2 gene (OMIM ) on chromosome 1q42; and LMPH1D (OMIM ), caused by mutation in the VEGFC gene (OMIM ) on chromosome 4q34. Hereditary lymphedema III (LMPH3 ) is caused by mutaiton in the PIEZO1 gene (OMIM ) on chromosome 16q24.Also see hereditary lymphedema type II (OMIM ), also known as Meige lymphedema.Lymphedema can also be a feature of syndromic disorders such as lymphedema-distichiasis syndrome (OMIM ), which is caused by mutation in the FOXC2 gene (OMIM ).

LYMPHEDEMA, HEREDITARY, IA; LMPH1A Is also known as primary congenital lymphedema|pcl|nonne-milroy lymphedema|lymphedema, early-onset|milroy disease

Related symptoms:

  • Scoliosis
  • Strabismus
  • Cleft palate
  • Ptosis
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about LYMPHEDEMA, HEREDITARY, IA; LMPH1A

Low match RENAL HYPODYSPLASIA/APLASIA 2; RHDA2


Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT ), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by Joss et al., 2003; Humbert et al., 2014).For a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 (OMIM ).

Related symptoms:

  • Falls
  • Pulmonary hypoplasia
  • Renal agenesis
  • Renal dysplasia
  • Redundant skin


SOURCES: OMIM MENDELIAN

More info about RENAL HYPODYSPLASIA/APLASIA 2; RHDA2

Low match RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO; CYSRD


Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Pulmonary hypoplasia
  • Renal cyst
  • Vesicoureteral reflux


SOURCES: OMIM MESH MENDELIAN

More info about RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO; CYSRD

Low match LETHAL CONGENITAL CONTRACTURE SYNDROME 11; LCCS11


Related symptoms:

  • Flexion contracture
  • Talipes equinovarus
  • Polyhydramnios
  • Retrognathia
  • Camptodactyly


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 11; LCCS11

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 8


Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 8 Is also known as cardiomyopathy, hypertrophic mitochondrial, fatal infantile|coxpd8

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Motor delay
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 8

Low match CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES


Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classic Ehlers-Danlos syndrome (see {130000}). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by Davidson and Giro, 2002).Patients with autosomal recessive cutis laxa type IC exhibit generalized cutis laxa in association with impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development (summary by Callewaert et al., 2013).For general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES Is also known as urban-rifkin-davis syndrome|arcl1c|autosomal recessive cutis laxa type 1c|urds|cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Depressed nasal bridge


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES

Top 5 symptoms//phenotypes associated to Autoimmunity and Pulmonary hypoplasia

Symptoms // Phenotype % cases
Hypertension Uncommon - Between 30% and 50% cases
Retrognathia Uncommon - Between 30% and 50% cases
Respiratory distress Uncommon - Between 30% and 50% cases
Renal dysplasia Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Respiratory failure Dilatation Renal insufficiency Ventricular septal defect Hernia Scoliosis Generalized hypotonia Congestive heart failure

Rare Symptoms - Less than 30% cases


Macrotia Tetralogy of Fallot Renal agenesis Intellectual disability Vesicoureteral reflux Renal cyst Pulmonic stenosis Umbilical hernia Inguinal hernia Potter facies Anemia Global developmental delay Micrognathia Polycystic kidney dysplasia Absence of renal corticomedullary differentiation Hyperechogenic kidneys Portal fibrosis Enlarged kidney Cholestasis Unilateral renal agenesis Oligohydramnios Metabolic acidosis Stage 5 chronic kidney disease Abnormality of the liver Abnormality of the kidney Acidosis Respiratory insufficiency Hepatomegaly Short stature Abnormal lung morphology Atrial septal defect Hypertelorism Talipes equinovarus Arthritis Midface retrusion Growth delay Hearing impairment Cataract Muscle weakness Short neck Malar flattening Paresthesia Muscular hypotonia Oliguria Prematurely aged appearance Tubulointerstitial abnormality Renal cortical microcysts Emphysema Patent foramen ovale Pulmonary insufficiency Chronic tubulointerstitial nephritis Tracheomalacia Cholestatic liver disease Hydronephrosis Hyperkalemic metabolic acidosis Dehydration Portal hypertension Chronic kidney disease Microretrognathia Renal hypoplasia/aplasia Hepatic fibrosis Depressed nasal ridge Sandal gap Pyloric stenosis Scarring Low-set, posteriorly rotated ears Cutis laxa Hepatosplenomegaly Laryngomalacia Splenomegaly Tubulointerstitial nephritis Nephritis Elevated serum creatinine Sacral meningocele Paranoia Retinal vascular tortuosity Giant platelets Velopharyngeal insufficiency Conotruncal defect Psychotic episodes Aplasia of the thymus Arteria lusoria Central nervous system degeneration Vascular ring Perineal fistula Congenital conductive hearing impairment Right aortic arch with mirror image branching Unilateral lung agenesis Nephronophthisis Unilateral primary pulmonary dysgenesis Rectal prolapse Periorbital edema Bladder diverticulum Abnormal cardiac septum morphology Peripheral pulmonary artery stenosis Nephropathy Premature skin wrinkling Pulmonary artery stenosis Situs inversus totalis Polydipsia Chronic lung disease Polyuria Hyperkalemia Multiple renal cysts Atelectasis Gastroesophageal reflux Redundant skin Arthrogryposis multiplex congenita Camptodactyly Polyhydramnios Flexion contracture Cystic renal dysplasia Bilateral renal agenesis Falls Congenital contracture Hyperkeratosis over edematous areas Hypoplasia of lymphatic vessels Predominantly lower limb lymphedema Chylous ascites Abnormality of the amniotic fluid Distichiasis Decreased fetal movement Akinesia Nonimmune hydrops fetalis Increased serum lactate Long philtrum Wide nasal bridge Depressed nasal bridge Staring gaze Histiocytoid cardiomyopathy Joint laxity Generalized muscle weakness Bilateral talipes equinovarus Lactic acidosis Hypertrophic cardiomyopathy EEG abnormality Cardiomyopathy Motor delay Failure to thrive Fetal akinesia sequence Hypoproteinemia Varicose veins Esophageal varix Congenital diaphragmatic hernia Hypoplasia of the ear cartilage Periportal fibrosis Sloping forehead Hematemesis Hypersplenism Biliary tract abnormality Tubulointerstitial fibrosis Strabismus Hepatic cysts Pancreatic cysts Congenital hepatic fibrosis Recurrent urinary tract infections Large fontanelles Cholangitis Azotemia Ptosis Hydrocele testis Abnormality of the nail Edema of the lower limbs Sparse hair Cellulitis Pleural effusion Hemangioma Conjunctivitis Hydrops fetalis Edema Convex nasal ridge Lymphedema Nail dysplasia Impaired T cell function Ascites Photophobia Arrhythmia Duodenal stenosis Hypoparathyroidism Right aortic arch Ovoid vertebral bodies Retinoschisis Limited hip movement Cervical myelopathy Flattened epiphysis Limited elbow movement Myelopathy Barrel-shaped chest Sciatica Vitreoretinopathy Hypoplasia of the odontoid process Disproportionate short stature Progressive sensorineural hearing impairment Restrictive ventilatory defect Short thorax Vestibular dysfunction Delayed pubic bone ossification Neonatal short-trunk short stature Spondyloepiphyseal dysplasia Hypoplasia of the corpus callosum Abnormality of cardiovascular system morphology Recurrent infections Immunodeficiency Behavioral abnormality Cerebellar atrophy Intellectual disability, severe Hydrocephalus Fever Limitation of knee mobility Delayed speech and language development High palate Cognitive impairment Abnormal facial shape Microcephaly Seizures Delayed calcaneal ossification Bowing of the legs Back pain Thrombocytopenia Glaucoma Hip dislocation Broad forehead Pectus carinatum Respiratory tract infection Hyperlordosis Apnea Skeletal dysplasia Polydactyly Narrow chest Severe short stature Kyphosis Gait disturbance Myopia Pain Sensorineural hearing impairment Nystagmus Platyspondyly Genu valgum Genu varum Osteoarthritis Growth abnormality Sleep apnea Coxa vara Rhizomelia Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Abnormality of the metaphysis Lumbar hyperlordosis Micromelia High myopia Limb undergrowth Waddling gait Limitation of joint mobility Retinal detachment Flat face Retinal degeneration Absent speech Obesity Mood swings Inflammation of the large intestine Autoimmune thrombocytopenia Submucous cleft hard palate Axonal loss Autoimmune hemolytic anemia Basal ganglia calcification Abnormality of the ear Myopathic facies Hypoplasia of the brainstem Posterior embryotoxon Acne Obsessive-compulsive behavior Apathy Psoriasiform dermatitis Rheumatoid arthritis Dysdiadochokinesis Cholelithiasis Anal stenosis Bipolar affective disorder Abnormality of the hand Pulmonary artery atresia Platybasia Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Seborrheic dermatitis Juvenile rheumatoid arthritis Abnormality of the endocrine system Vitiligo Echolalia Myelomeningocele Truncus arteriosus Pierre-Robin sequence Delusions Meningocele Hearing abnormality Nasal speech Schizophrenia Hypospadias Anxiety Dysmetria Anal atresia Congenital cataract Blepharophimosis Abnormality of the pinna Mental deterioration Aggressive behavior Conductive hearing impairment Hemolytic anemia Hypothyroidism Hyperactivity Posteriorly rotated ears Dementia Abnormal heart morphology Patent ductus arteriosus Depressivity Bulbous nose Bifid uvula Arnold-Chiari malformation Hallucinations Bicuspid aortic valve Holoprosencephaly Purpura Narrow palpebral fissure Multicystic kidney dysplasia Hypocalcemia Spina bifida Open mouth Chorea Primary amenorrhea Low posterior hairline Psychosis Peripheral demyelination Amenorrhea Specific learning disability Underdeveloped nasal alae Bronchomalacia



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

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