Autoimmunity, and Hyperlipidemia

Diseases related with Autoimmunity and Hyperlipidemia

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


Top matches:

Low match ACQUIRED PARTIAL LIPODYSTROPHY


Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.

ACQUIRED PARTIAL LIPODYSTROPHY Is also known as apld, susceptibility to|progressive cephalothoracic lipodystrophy|barraquer-simons syndrome|lipodystrophy, cephalothoracic type|lipodystrophy, partial, progressive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertension
  • Myopathy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACQUIRED PARTIAL LIPODYSTROPHY

Low match SEA-BLUE HISTIOCYTOSIS


A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining.

SEA-BLUE HISTIOCYTOSIS Is also known as sea-blue histiocytosis|histiocytosis, sea-blue

Related symptoms:

  • Seizures
  • Ataxia
  • Peripheral neuropathy
  • Hepatomegaly
  • Gait disturbance


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SEA-BLUE HISTIOCYTOSIS

Mendelian

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

Learn more

Other less relevant matches:

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 WOODHOUSE-SAKATI SYNDROME


Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

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 ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Low match HYPERLIPIDEMIA, COMBINED, 1


HYPERLIPIDEMIA, COMBINED, 1 Is also known as hyplip1|hyperlipidemia, familial combined, 1|fchl1

Related symptoms:

  • Hyperlipidemia
  • Abnormality of lipid metabolism


SOURCES: MESH OMIM MENDELIAN

More info about HYPERLIPIDEMIA, COMBINED, 1

Low match TRANSIENT INFANTILE HYPERTRIGLYCERIDEMIA AND HEPATOSTEATOSIS


Transient infantile hypertriglyceridemia and hepatosteatosis is a rare, genetic, hepatic disease characterized by massive hepatomegaly, moderate to severe, transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis), manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age.

TRANSIENT INFANTILE HYPERTRIGLYCERIDEMIA AND HEPATOSTEATOSIS Is also known as transient infantile hypertriglyceridemia and fatty liver

Related symptoms:

  • Short stature
  • Failure to thrive
  • Hepatomegaly
  • Vomiting
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about TRANSIENT INFANTILE HYPERTRIGLYCERIDEMIA AND HEPATOSTEATOSIS

Low match HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5


Related symptoms:

  • Hepatosplenomegaly
  • Hypertriglyceridemia
  • Episodic fever
  • Increased serum ferritin
  • Hemophagocytosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5

Top 5 symptoms//phenotypes associated to Autoimmunity and Hyperlipidemia

Symptoms // Phenotype % cases
Hypertriglyceridemia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Hepatic steatosis Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hepatomegaly Cognitive impairment Nephropathy Peripheral neuropathy Hepatosplenomegaly Diabetes mellitus Hypertension Proteinuria Short stature Elevated hepatic transaminase Autoimmune thrombocytopenia Decreased testicular size Hearing impairment Scoliosis Insulin-resistant diabetes mellitus Abnormality of lipid metabolism Glomerulopathy Cirrhosis Lipodystrophy Polycystic ovaries Hypothyroidism Alopecia Vomiting Cardiomyopathy Congestive heart failure Hirsutism Insulin resistance

Rare Symptoms - Less than 30% cases


Hepatic fibrosis Sensorineural hearing impairment Delayed speech and language development Arteriosclerosis Hyperinsulinemia Acute pancreatitis Oligomenorrhea Polyphagia High pitched voice Acanthosis nigricans Accelerated skeletal maturation Epidermal acanthosis Triangular face Diarrhea Delayed puberty Dystonia Increased thyroid-stimulating hormone level Scarring Pneumonia Renal insufficiency Kyphosis Abnormality of the dentition Short neck Motor delay Stage 5 chronic kidney disease Growth delay Abnormal spermatogenesis Hypogonadism Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Atherosclerosis Fine hair Nephritis Hypotrichosis Emphysema Sparse hair Pancreatitis Increased body weight Failure to thrive Abnormality of the kidney Purpura Thrombocytopenia Hyperpigmentation of the skin Abnormality of the liver Retinopathy Lipoatrophy Glomerulonephritis Premature ovarian insufficiency Generalized hirsutism Dementia Hypertrichosis Mucopolysacchariduria Nephrotic syndrome Recurrent infections Hyperhidrosis Ataxia Immunodeficiency Gait disturbance Dilatation Intellectual disability, mild Hyperostosis Aplasia/Hypoplasia of the cerebellum Cough Acne Impaired vibratory sensation Pallor Autistic behavior Constriction of peripheral visual field Obsessive-compulsive behavior Portal hypertension Chronic otitis media Cholelithiasis Elevated alkaline phosphatase Precocious puberty Nyctalopia Polydipsia Urinary incontinence Respiratory tract infection Hyperglycemia Short finger Conductive hearing impairment Subcapsular cataract Increased number of teeth Myalgia Irritability Hyperuricemia Bronchitis Glycosuria Progressive sensorineural hearing impairment Agenesis of permanent teeth Chorioretinal atrophy Diabetes insipidus Pericardial effusion Abnormal retinal morphology Truncal obesity Urinary urgency Postnatal growth retardation Goiter Hydroureter Pulmonary fibrosis Polyuria Glucose intolerance Abnormality of the hand Hypercholesterolemia Dilated cardiomyopathy Retinal dystrophy Pulmonary arterial hypertension Type II diabetes mellitus Lymphadenopathy Nausea Cardiomegaly Optic disc pallor Pericarditis Pigmentary retinopathy Tachycardia Hepatic failure Cyanosis Retinal degeneration Specific learning disability Progressive visual loss Sleep disturbance Ascites Abdominal distention Otitis media Growth hormone deficiency Gastrointestinal hemorrhage Asthma Vesicoureteral reflux Recurrent otitis media Involuntary movements Cone/cone-rod dystrophy Pulmonic stenosis Tachypnea Round face Generalized tonic-clonic seizures Macular degeneration Absence seizures Nephrocalcinosis Hypermetropia Ophthalmoplegia Horizontal nystagmus Recurrent pneumonia Carious teeth Recurrent urinary tract infections Short toe Gynecomastia Sinusitis Infertility Decreased liver function Dry skin Abnormality of retinal pigmentation Anorexia Chronic diarrhea Thickened skin Left ventricular hypertrophy Hepatitis Esophageal varix Thoracic scoliosis Albuminuria Multifocal atrial tachycardia ST segment depression Facial hirsutism Chronic hepatic failure Hepatic necrosis Hypoplastic male external genitalia Abnormality of the pituitary gland Urethral obstruction Squared iliac bones Renovascular hypertension Abnormal muscle tone High-frequency sensorineural hearing impairment Female hypogonadism Impaired temperature sensation Urethral stricture Abnormal chorioretinal morphology Epigastric pain Abnormality of dental color Lumbar scoliosis Abnormality of the urethra Chronic infection Decreased glomerular filtration rate Abnormality of the optic disc Childhood-onset truncal obesity Increased circulating androgen level Melena Abnormal retinal artery morphology Hemophagocytosis Increased serum ferritin Episodic fever Abnormality of the cardiovascular system Abnormality of the femoral head Vitreous haze Localized hirsutism Abnormality of renal calyx morphology Abnormality of prothrombin EEG with occipital slowing Precocious puberty in females Widely-spaced incisors Exudative retinopathy Recurrent cystitis Glue ear Unilateral breast hypoplasia Dilatation of the bladder Thickened ears Granular macular appearance Receptive language delay Hyperostosis frontalis interna Chronic active hepatitis Abnormal adipose tissue morphology Nonproductive cough First degree atrioventricular block Hematemesis Severe sensorineural hearing impairment Attenuation of retinal blood vessels Chronic fatigue Myocardial fibrosis Male hypogonadism Oligospermia Myocarditis Tubular atrophy Recurrent bronchitis Acute hepatic failure Elevated serum creatinine Right ventricular hypertrophy Tubulointerstitial nephritis Photophobia Pendular nystagmus Gingivitis Ketoacidosis Broad foot Posterior subcapsular cataract Poor coordination Hyperventilation Alopecia of scalp Peripheral visual field loss Retinal atrophy Hypoventilation Chronic obstructive pulmonary disease Restrictive cardiomyopathy Frontal balding Urinary retention Increased total bilirubin Vertical nystagmus Bull's eye maculopathy Multinodular goiter Abnormality of female external genitalia Hepatic encephalopathy Urethral stenosis Achromatopsia Chills Pyelonephritis Poor fine motor coordination Elevated C-reactive protein level High-frequency hearing impairment Tubulointerstitial fibrosis Testicular atrophy Abnormal left ventricle morphology Abnormal renal physiology Disinhibition Retinal pigment epithelial atrophy Endocardial fibroelastosis Abnormal renal morphology Menstrual irregularities Decreased HDL cholesterol concentration Ovarian cyst Deeply set eye Shallow acetabular fossae Jaundice Camptodactyly Dehydration Amenorrhea Dental malocclusion Prominent nose Polyneuropathy Sensory neuropathy Abnormality of movement Arthrogryposis multiplex congenita Prominent nasal bridge Protruding ear Mental deterioration Abnormality of extrapyramidal motor function High forehead Micropenis Babinski sign Abnormality of metabolism/homeostasis Frontal bossing Downslanted palpebral fissures Dysarthria Hyperreflexia High palate Hypertelorism Bilateral sensorineural hearing impairment Psychosis Labial hypertrophy Abnormal T-wave Fever Myopia Depressed nasal bridge Anemia Abnormal facial shape Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Decreased serum estradiol Myocardial infarction Decreased serum testosterone level Anodontia Heart block Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Flat occiput Sparse eyebrow Hallucinations Choreoathetosis Sparse scalp hair Primary amenorrhea Generalized muscular appearance from birth Cystic angiomatosis of bone Cerebellar atrophy Edema Histiocytosis Pulmonary infiltrates Blepharitis Petechiae Cafe-au-lait spot Subcutaneous nodule Abnormal bleeding Hypopigmentation of the skin Leukemia Abnormality of the eye Loss of subcutaneous adipose tissue from upper limbs Mediastinal lymphadenopathy Progressive loss of facial adipose tissue Loss of truncal subcutaneous adipose tissue Decreased serum complement C3 Membranoproliferative glomerulonephritis Lymphocytosis Progeroid facial appearance Microscopic hematuria Hematuria Arthralgia Myopathy Chronic myelogenous leukemia Absent axillary hair Reduced intrathoracic adipose tissue Long foot Insulin-resistant diabetes mellitus at puberty Prominent umbilicus Decreased serum leptin Congenital generalized lipodystrophy Decreased fertility in females Generalized lipodystrophy Glioma Bone cyst Abnormality of the ovary Angina pectoris Skeletal muscle hypertrophy Elevated serum acid phosphatase Large hands Clitoral hypertrophy Nephrolithiasis Tall stature Abnormality of the genital system Hypertrophic cardiomyopathy Umbilical hernia Macrotia Mandibular prognathia Hernia Sea-blue histiocytosis Intrauterine growth retardation Headache Pes planus Moyamoya phenomenon Feeding difficulties Cataract Pain Strabismus Nystagmus Global developmental delay Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Abnormal immunoglobulin level Optic atrophy Abnormal T cell morphology Encephalomalacia Steroid-resistant nephrotic syndrome Multiple lentigines Hypoplasia of the capital femoral epiphysis Right ventricular cardiomyopathy Cellular immunodeficiency Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Visual impairment Fatigue Villous atrophy Rod-cone dystrophy Kyphoscoliosis Gastroesophageal reflux Dyspnea Autism Weight loss Hyperkeratosis Respiratory failure Polydactyly Abdominal pain Myoclonus Recurrent respiratory infections Respiratory insufficiency Constipation Hyporeflexia Patent ductus arteriosus Visual loss Clinodactyly Encephalopathy Depressivity Obesity Behavioral abnormality Blindness Respiratory distress Cerebral ischemia Lymphoproliferative disorder Osteopenia Neutropenia Intellectual disability, profound Lumbar hyperlordosis Microdontia Waddling gait Lymphoma Premature birth Migraine Brain atrophy Gliosis Abnormal cerebellum morphology Bulbous nose Abnormal form of the vertebral bodies Abnormality of skin pigmentation Astigmatism Malabsorption Platyspondyly Hip dislocation Corneal opacity Stroke Hyperlordosis Developmental regression Thin upper lip vermilion Abnormal lung morphology Heterotopia B-cell lymphoma Focal segmental glomerulosclerosis Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Transient ischemic attack Abnormality of the vasculature Protuberant abdomen Multiple cafe-au-lait spots Steatorrhea Hypermelanotic macule Combined immunodeficiency Spondyloepiphyseal dysplasia Abnormality of epiphysis morphology Melanocytic nevus Epiphyseal dysplasia Glomerulosclerosis Encephalitis Chronic kidney disease Coarse hair Reduced bone mineral density Azoospermia Opacification of the corneal stroma Bone marrow hypocellularity Lymphopenia Abnormal natural killer cell physiology



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Arthrogryposis multiplex congenita, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more