Autoimmunity, and Premature birth

Diseases related with Autoimmunity and Premature birth

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


Top matches:

Low match FAMILIAL HYPERTHYROIDISM DUE TO MUTATIONS IN TSH RECEPTOR


Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.

FAMILIAL HYPERTHYROIDISM DUE TO MUTATIONS IN TSH RECEPTOR Is also known as hyperthyroidism, nonautoimmune, autosomal dominant|toxic thyroid hyperplasia, autosomal dominant|familial non-immune hyperthyroidism|resistance to thyroid stimulating hormone|hyperthyroidism, congenital nonautoimmune

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Delayed speech and language development
  • Motor delay
  • Diarrhea


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FAMILIAL HYPERTHYROIDISM DUE TO MUTATIONS IN TSH RECEPTOR

Low 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

Low match INTRAHEPATIC CHOLESTASIS OF PREGNANCY


Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.

INTRAHEPATIC CHOLESTASIS OF PREGNANCY Is also known as pregnancy-related cholestasis|gravidic intrahepatic cholestasis|recurrent intrahepatic cholestasis of pregnancy

Related symptoms:

  • Pain
  • Jaundice
  • Elevated hepatic transaminase
  • Abnormality of the liver
  • Pruritus


SOURCES: OMIM ORPHANET MENDELIAN

More info about INTRAHEPATIC CHOLESTASIS OF PREGNANCY

Mendelian

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

Learn more

Other less relevant matches:

Low match EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA


Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.

EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA Is also known as ebs with pyloric atresia|ebs-pa

Related symptoms:

  • Failure to thrive
  • Anemia
  • Flexion contracture
  • Dysphagia
  • Short nose


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA

Low match SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1


Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.

SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 Is also known as dhmn6|hmn6|neuronopathy, distal hereditary motor, type vi|spinal muscular atrophy, diaphragmatic|autosomal recessive distal spinal muscular atrophy type 1|autosomal recessive spinal muscular atrophy with respiratory distress|dsma1|distal-hmn type 6|diaphr

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1

Low match INFANT ACUTE RESPIRATORY DISTRESS SYNDROME


Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts.

INFANT ACUTE RESPIRATORY DISTRESS SYNDROME Is also known as infant ards|rds of prematurity|hyaline membrane disease|neonatal respiratory distress syndrome|hyaline membrane disease, formerly|infant respiratory distress syndrome

Related symptoms:

  • Respiratory distress
  • Edema
  • Premature birth
  • Tachypnea
  • Neonatal respiratory distress


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANT ACUTE RESPIRATORY DISTRESS SYNDROME

Low match CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1; ICP1


Intrahepatic cholestasis of pregnancy is a reversible form of cholestasis that occurs most often in the third trimester of pregnancy and recurs in 45 to 70% of subsequent pregnancies. Symptoms include pruritus, jaundice, increased serum bile salts, and abnormal liver enzymes, all of which resolve rapidly after delivery. However, the condition is associated with fetal complications, including placental insufficiency, premature labor, fetal distress, and intrauterine death. Some women with ICP may also be susceptible to oral contraceptive-induced cholestasis (OCIC) (summary by Pasmant et al., 2012). Genetic Heterogeneity of Intrahepatic Cholestasis of PregnancySee also ICP3 (OMIM ), caused by mutation in the ABCB4 gene (OMIM ).

CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1; ICP1 Is also known as cholestasis, pregnancy-related, 1

Related symptoms:

  • Jaundice
  • Elevated hepatic transaminase
  • Abnormality of the liver
  • Pruritus
  • Premature birth


SOURCES: OMIM MENDELIAN

More info about CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1; ICP1

Low match ICHTHYOSIS-PREMATURITY SYNDROME


Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.

ICHTHYOSIS-PREMATURITY SYNDROME Is also known as congenital ichthyosis type 4|ips|ichthyosis congenita iv

Related symptoms:

  • Hyperkeratosis
  • Ichthyosis
  • Premature birth
  • Eosinophilia
  • Neonatal respiratory distress


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS-PREMATURITY SYNDROME

Low match BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT; BARTS5


Antenatal Bartter syndrome is a potentially life-threatening disease characterized by fetal polyuria, polyhydramnios, prematurity, and postnatal polyuria with persistent renal salt wasting. In transient antenatal Bartter syndrome-5, the onset of polyhydramnios and labor occur several weeks earlier than in other forms of Bartter syndrome. Polyuria lasts from a few days to 6 weeks, ending around 30 to 33 weeks of gestational age. Other features in the neonatal period include hypercalciuria, causing nephrocalcinosis in some cases, as well as hyponatremia, hypokalemia, and elevated renin and aldosterone; these subsequently resolve or normalize, although nephrocalcinosis may persist (Laghmani et al., 2016).

Related symptoms:

  • Polyhydramnios
  • Premature birth
  • Nephrocalcinosis
  • Hypercalciuria
  • Hypokalemia


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT; BARTS5

Low match HARLEQUIN ICHTHYOSIS


Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.

HARLEQUIN ICHTHYOSIS Is also known as ichthyosis congenita, harlequin type|'harlequin fetus'|ichthyosis congenita, harlequin fetus type|harlequin ichthyosis|ichthyosis fetalis, harlequin type|hi

Related symptoms:

  • Global developmental delay
  • Cataract
  • Respiratory insufficiency
  • Recurrent respiratory infections
  • Respiratory failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about HARLEQUIN ICHTHYOSIS

Top 5 symptoms//phenotypes associated to Autoimmunity and Premature birth

Symptoms // Phenotype % cases
Motor delay Uncommon - Between 30% and 50% cases
Tachypnea Uncommon - Between 30% and 50% cases
Respiratory failure Uncommon - Between 30% and 50% cases
Small for gestational age Uncommon - Between 30% and 50% cases
Intellectual disability Rare - less than 30% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Failure to thrive Flexion contracture Neonatal respiratory distress Congenital ichthyosiform erythroderma Growth delay Polyhydramnios Increased serum bile acid concentration during pregnancy Respiratory distress Anemia Respiratory insufficiency Sepsis Limitation of joint mobility Intrauterine growth retardation Abnormal liver function tests during pregnancy Fetal distress Dehydration Diarrhea Ichthyosis Hyperkeratosis Intrahepatic cholestasis Cholestasis Pruritus Abnormality of the liver Elevated hepatic transaminase Glomerulosclerosis Proptosis Global developmental delay Jaundice Pain Muscular hypotonia Congenital pyloric atresia Muscle weakness Feeding difficulties Aplasia of the bladder Generalized hypotonia Hyperhidrosis Peripheral neuropathy Skeletal muscle atrophy Talipes equinovarus Hyporeflexia Constipation Paralysis Distal muscle weakness Camptodactyly of finger Limb muscle weakness Abnormality of the foot Abnormality of the stomach Underdeveloped nasal alae Ureterocele Hydronephrosis Lateral displacement of the femoral head Cholelithiasis Cholestatic liver disease Cholangitis Cholesterol gallstones Dysphagia Short nose Deeply set eye Microtia Oral mucosal blisters Peripheral axonal neuropathy Abnormal blistering of the skin Renal dysplasia Abnormality of the outer ear Skin vesicle Fragile skin Aplasia cutis congenita Skin erosion Lower limb muscle weakness Spinal muscular atrophy Distal amyotrophy Sudden cardiac death Renal salt wasting Alkalosis Increased circulating renin level Hypokalemic alkalosis Hypochloremia Fetal polyuria Medullary nephrocalcinosis Cataract Recurrent respiratory infections Rigidity Arthritis Everted lower lip vermilion Depressed nasal ridge Polyuria Thickened skin Recurrent skin infections Hand polydactyly Ectropion Self-injurious behavior Erythroderma Short finger Foot polydactyly Malignant hyperthermia Hearing abnormality Lack of skin elasticity Congenital nonbullous ichthyosiform erythroderma Hypergranulosis Hyperaldosteronism Hyponatremia Urinary incontinence Inspiratory stridor Decreased fetal movement Progressive muscle weakness Severe muscular hypotonia Decreased nerve conduction velocity Anterior pituitary dysgenesis Axonal degeneration Weak cry Hypoventilation Recurrent lower respiratory tract infections EMG: neuropathic changes Degeneration of anterior horn cells Diaphragmatic eventration Diaphragmatic paralysis Diaphragmatic weakness Hypokalemia Nocturnal hypoventilation Peripheral axonal degeneration Ventilator dependence with inability to wean Denervation of the diaphragm Edema Atelectasis Pulmonary edema Disseminated intravascular coagulation Eosinophilia Follicular hyperkeratosis Desquamation of skin soon after birth Nephrocalcinosis Hypercalciuria Nephrosclerosis Shallow acetabular fossae Premature arteriosclerosis Proteinuria Congestive heart failure Abnormality of the dentition Kyphosis Renal insufficiency Immunodeficiency Headache Recurrent infections Thrombocytopenia Pneumonia Dementia Hypothyroidism Osteopenia Thin upper lip vermilion Abnormality of the kidney Cerebellar atrophy Developmental regression Hyperlordosis Scarring Stroke Corneal opacity Hip dislocation Platyspondyly Malabsorption Astigmatism Stage 5 chronic kidney disease Abnormality of skin pigmentation Bulbous nose Vomiting Cardiomyopathy Neutropenia Abnormal eye morphology Delayed speech and language development Abnormality of metabolism/homeostasis Hyperactivity Weight loss Tachycardia Sleep disturbance Accelerated skeletal maturation Goiter Agitation Hyperthyroidism Hand tremor Autoimmune antibody positivity Graves disease Thyroid hyperplasia Short neck Thyrotoxicosis with diffuse goiter Eyelid retraction Activating thyroid-stimulating hormone receptor defect Pretibial myxedema Seizures Short stature Scoliosis Abnormal facial shape Cognitive impairment Depressed nasal bridge Hypertension Myopia Fever Nephropathy Abnormal cerebellum morphology Moyamoya phenomenon Cerebral ischemia Hypermelanotic macule Steatorrhea Multiple cafe-au-lait spots Glomerulopathy Protuberant abdomen Abnormality of the vasculature Transient ischemic attack Thoracic kyphosis Ovoid vertebral bodies Disproportionate short-trunk short stature B-cell lymphoma Lymphoproliferative disorder Villous atrophy Precocious atherosclerosis High pitched voice Subvalvular aortic stenosis Dentinogenesis imperfecta Cellular immunodeficiency Right ventricular cardiomyopathy Arteriosclerosis Hypoplasia of the capital femoral epiphysis Mucopolysacchariduria Multiple lentigines Steroid-resistant nephrotic syndrome Increased thyroid-stimulating hormone level Encephalomalacia Abnormal T cell morphology Abnormal immunoglobulin level Combined immunodeficiency Emphysema Gliosis Abnormality of epiphysis morphology Brain atrophy Migraine Lymphoma Waddling gait Decreased testicular size Microdontia Nephrotic syndrome Lumbar hyperlordosis Intellectual disability, profound Fine hair Abnormal lung morphology Abnormal form of the vertebral bodies Heterotopia Lymphopenia Focal segmental glomerulosclerosis Bone marrow hypocellularity Opacification of the corneal stroma Atherosclerosis Hyperlipidemia Azoospermia Reduced bone mineral density Coarse hair Chronic kidney disease Encephalitis Epiphyseal dysplasia Glomerulonephritis Nephritis Melanocytic nevus Spondyloepiphyseal dysplasia Eclabion



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Stage 5 chronic kidney disease, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more