Autoimmunity, and Hypotrichosis

Diseases related with Autoimmunity and Hypotrichosis

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


Top matches:

Low match OMENN SYNDROME


Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about OMENN SYNDROME

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 AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1


Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.

AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1 Is also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy|apeced|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome|autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome|apeced syndrome|polyglandular autoimmu

Related symptoms:

  • Seizures
  • Abnormal facial shape
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1

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Other less relevant matches:

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 ICHTHYOSIS-HYPOTRICHOSIS SYNDROME


Ichthyosis-hypotrichosis syndrome is characterised by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation.

ICHTHYOSIS-HYPOTRICHOSIS SYNDROME Is also known as ifah syndrome|ichthyosis-follicular atrophoderma-hypotrichosis syndrome|ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome|ihs|hypotrichosis-congenital ichthyosis syndrome

Related symptoms:

  • Hypotrichosis
  • Ichthyosis


SOURCES: ORPHANET MENDELIAN

More info about ICHTHYOSIS-HYPOTRICHOSIS SYNDROME

Low match VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1; VAMAS1


Generalized vitiligo is an autoimmune disease characterized by melanocyte loss, which results in patchy depigmentation of skin and hair, and is associated with an elevated risk of other autoimmune diseases. It is a genetically complex disorder involving multiple susceptibility genes and unknown environmental triggers. Patients with generalized vitiligo have elevated frequencies of other autoimmune diseases, suggesting that these diseases involve shared genetic components (summary by Jin et al., 2010). Genetic Heterogeneity of Vitiligo-Associated Multiple Autoimmune Disease SusceptibilityAdditional forms of vitiligo-associated multiple autoimmune disease susceptibility have been mapped to chromosomes 1p31 (VAMAS2, {607836}, associated with mutation in the FOXD3 gene, {611539}), 7 (VAMAS3 ), 8 (VAMAS4 ), 4 (VAMAS5 ), and 6p21.3 (VAMAS6 ).

VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1; VAMAS1 Is also known as vtlg|vitiligo|slev1|systemic lupus erythematosus, vitiligo-related

Related symptoms:

  • Anemia
  • Alopecia
  • Autoimmunity
  • Nevus
  • Systemic lupus erythematosus


SOURCES: OMIM MENDELIAN

More info about VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1; VAMAS1

Low match TCR-ALPHA-BETA-POSITIVE T-CELL DEFICIENCY


TCR-alpha-beta-positive T-cell deficiency is a rare, hereditary primary immunodeficiency characterized by recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune hemolytic anemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported.

TCR-ALPHA-BETA-POSITIVE T-CELL DEFICIENCY Is also known as tcr-alpha/beta deficiency|tcr-alpha-beta+ t-cell deficiency|imd7|immunodeficiency 7

Related symptoms:

  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections
  • Alopecia


SOURCES: OMIM ORPHANET MENDELIAN

More info about TCR-ALPHA-BETA-POSITIVE T-CELL DEFICIENCY

Low match IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12


Common variable immunodeficiency-12 is an autosomal dominant primary immunodeficiency characterized by recurrent infections, mainly respiratory, associated with hypogammaglobulinemia. The disorder shows a highly variable age at onset and highly variable disease severity, even within the same family. Some patients have features of autoimmunity (summary by Fliegauf et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 Is also known as nfkb1 deficiency

Related symptoms:

  • Anemia
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia
  • Alopecia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12

Low match ALYMPHOID CYSTIC THYMIC DYSGENESIS


Alymphoid cystic thymic dysgenesis is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive.

ALYMPHOID CYSTIC THYMIC DYSGENESIS Is also known as winged helix deficiency|severe t-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome|foxn1 deficiency

Related symptoms:

  • Immunodeficiency
  • Alopecia
  • Nail dystrophy
  • Hypotrichosis
  • Ridged nail


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ALYMPHOID CYSTIC THYMIC DYSGENESIS

Low match MONILETHRIX; MNLIX


Individuals with monilethrix have normal hair at birth, but within the first few months of life develop fragile, brittle hair that tends to fracture and produce varying degrees of dystrophic alopecia. In the mildest forms, only the occipital regions of the scalp are involved; however, in severe forms the eyebrows, eyelashes, and secondary sexual hair may also be involved. Follicular hyperkeratosis with predilection for the scalp, nape of neck, and extensor surfaces of the upper arm and thighs is also a characteristic finding in these patients. Light microscopic examination is diagnostic and reveals elliptical nodes of normal thickness and intermittent constrictions (internodes) at which the hair easily breaks. There may be spontaneous improvement with time, especially during puberty and pregnancy, but the condition never resolves completely (summary by Zlotogorski et al., 2006).An autosomal recessive form of monilethrix-like congenital hypotrichosis (see {607903}) is caused by mutation in the DSG4 gene (OMIM ). The clinical picture of autosomal recessive monilethrix is more severe than the dominant form, with more extensive alopecia of the scalp, body, and limbs, and a papular rash involving the extremities and periumbilical region (Zlotogorski et al., 2006).The term monilethrix derives from the Latin word for necklace and the Greek for hair (Schweizer, 2006).

Related symptoms:

  • Abnormality of metabolism/homeostasis
  • Alopecia
  • Hyperkeratosis
  • Erythema
  • Skin rash


SOURCES: OMIM MENDELIAN

More info about MONILETHRIX; MNLIX

Top 5 symptoms//phenotypes associated to Autoimmunity and Hypotrichosis

Symptoms // Phenotype % cases
Alopecia Very Common - Between 80% and 100% cases
Anemia Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Hypothyroidism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Seizures Hypogonadism Diabetes mellitus Chronic diarrhea Otitis media Vitiligo Lymphadenopathy Alopecia areata Hypergonadotropic hypogonadism Skin rash Hepatosplenomegaly

Rare Symptoms - Less than 30% cases


Delayed speech and language development Dystonia Hypogonadotrophic hypogonadism Respiratory tract infection Nausea Peripheral neuropathy Sensorineural hearing impairment Cognitive impairment Abnormality of metabolism/homeostasis Decreased antibody level in blood Scoliosis Hearing impairment Hyperlipidemia Retinopathy Decreased testicular size Abnormality of the liver Hyperkeratosis Abnormal spermatogenesis Pallor Photophobia Rod-cone dystrophy Sparse hair Recurrent respiratory infections Constipation Fine hair Dehydration Vomiting Delayed puberty Visual impairment Cataract Autoimmune thrombocytopenia Intellectual disability Pigmentary retinopathy Cholelithiasis Hepatomegaly Chronic obstructive pulmonary disease Splenomegaly Thrombocytopenia Pneumonia Papule Dry skin Lymphoma Thickened skin Short toe Female hypogonadism Diabetes insipidus Nail dystrophy Constriction of peripheral visual field Increased body weight Aplasia/Hypoplasia of the eyebrow Recurrent infections Hepatitis Dysgammaglobulinemia Sinusitis Insulin-resistant diabetes mellitus Chronic active hepatitis Thyroiditis Recurrent bronchitis Myocardial fibrosis Glycosuria Gingivitis Bronchitis Chronic fatigue Hyperuricemia Increased number of teeth Subcapsular cataract Pendular nystagmus Posterior subcapsular cataract Pericarditis Thoracic scoliosis Severe sensorineural hearing impairment Hypoventilation Elevated serum creatinine Myocarditis Poor coordination Tubular atrophy Hyperventilation Ketoacidosis Right ventricular hypertrophy Broad foot Attenuation of retinal blood vessels Acute hepatic failure Oligospermia Tubulointerstitial nephritis Alopecia of scalp Peripheral visual field loss Oligomenorrhea Retinal atrophy Male hypogonadism Acne Glomerulopathy Gynecomastia Tachypnea Hypercholesterolemia Pancreatitis Atherosclerosis Acanthosis nigricans Macular degeneration Accelerated skeletal maturation Absence seizures Nephrocalcinosis Generalized hirsutism Horizontal nystagmus Recurrent pneumonia Hyperpigmentation of the skin Goiter Hepatic fibrosis Decreased liver function Insulin resistance Abnormality of retinal pigmentation Anorexia Left ventricular hypertrophy Recurrent urinary tract infections Involuntary movements Recurrent otitis media Hypertriglyceridemia Pulmonary arterial hypertension Epidermal acanthosis Cone/cone-rod dystrophy Polycystic ovaries Progressive sensorineural hearing impairment Glucose intolerance Agenesis of permanent teeth Short finger Polyphagia Chorioretinal atrophy Pericardial effusion Abnormal retinal morphology Truncal obesity Urinary urgency Hydroureter Pulmonary fibrosis Emphysema Polyuria Hyperglycemia Abnormality of the hand Hyperostosis Restrictive cardiomyopathy Impaired vibratory sensation Aplasia/Hypoplasia of the cerebellum Obsessive-compulsive behavior Chronic otitis media Nephritis Polydipsia Portal hypertension Lipodystrophy Hyperinsulinemia Precocious puberty Elevated alkaline phosphatase Esophageal varix Multinodular goiter High-frequency hearing impairment Glue ear Vitreous haze Localized hirsutism Abnormality of renal calyx morphology Abnormality of prothrombin EEG with occipital slowing Precocious puberty in females Abnormal retinal artery morphology Widely-spaced incisors Recurrent cystitis Unilateral breast hypoplasia Ichthyosis Dilatation of the bladder Thickened ears Granular macular appearance Receptive language delay Hyperostosis frontalis interna Abnormal adipose tissue morphology Nonproductive cough Exudative retinopathy Increased circulating androgen level High-frequency sensorineural hearing impairment Abnormality of the femoral head Nevus Multifocal atrial tachycardia Nail pits Perifollicular hyperkeratosis Abnormal hair pattern Follicular hyperkeratosis Brittle hair Abnormality of the nail Nail dysplasia Erythema Decreased proportion circulating T-helper cells Congenital alopecia totalis Severe T-cell immunodeficiency Decrease in T cell count Systemic lupus erythematosus Ridged nail Recurrent sinopulmonary infections IgA deficiency Autoimmune hemolytic anemia Inflammation of the large intestine Recurrent skin infections Hemolytic anemia Immune dysregulation Spotty hyperpigmentation Peptic ulcer Childhood-onset truncal obesity ST segment depression Ovarian cyst Arteriosclerosis Cardiomegaly Abnormality of female external genitalia Hepatic encephalopathy Urethral stenosis Achromatopsia Acute pancreatitis Chills Pyelonephritis Poor fine motor coordination Urinary retention Elevated C-reactive protein level Vertical nystagmus 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 Bull's eye maculopathy Increased total bilirubin Facial hirsutism Urethral stricture Chronic hepatic failure Hepatic necrosis Hypoplastic male external genitalia Abnormality of the pituitary gland Urethral obstruction Squared iliac bones Renovascular hypertension Albuminuria Abnormal muscle tone Impaired temperature sensation Abnormal chorioretinal morphology Frontal balding Epigastric pain Abnormality of dental color Lumbar scoliosis Abnormality of the urethra Chronic infection Decreased glomerular filtration rate Abnormality of the optic disc First degree atrioventricular block Melena Hematemesis Type II diabetes mellitus Irritability Optic disc pallor Premature ovarian insufficiency Increased thyroid-stimulating hormone level Abnormal T-wave Decreased serum estradiol Decreased serum testosterone level Anodontia Heart block Hypoplasia of the uterus Flat occiput Sparse eyebrow Purpura Decreased serum insulin-like growth factor 1 Hallucinations Choreoathetosis Sparse scalp hair Primary amenorrhea Myocardial infarction Psychosis Abnormality of extrapyramidal motor function Bilateral sensorineural hearing impairment Amenorrhea Dental malocclusion Streak ovary Progressive extrapyramidal movement disorder Triangular face Type I diabetes mellitus Hypoparathyroidism Primary adrenal insufficiency Metaphyseal dysplasia Macular atrophy Abnormality of the thyroid gland Adrenal insufficiency Hypopigmented skin patches Opacification of the corneal stroma Abnormality of the fingernails Hypocalcemia Hypoplasia of the fallopian tube Hypoplasia of dental enamel Cerebral calcification Hypotension Muscle cramps Nausea and vomiting Malabsorption Rigidity Reduced visual acuity Abnormal facial shape Progressive alopecia Prominent nose Polyneuropathy Chronic sinusitis Eosinophilia Hypoplasia of the thymus Recurrent viral infections Hypoproteinemia Severe combined immunodeficiency Hashimoto thyroiditis Combined immunodeficiency Leukocytosis Erythroderma Scaling skin Disproportionate short-limb short stature Metaphyseal chondrodysplasia Shock Recurrent bacterial infections Abnormality of the metaphysis Inflammatory abnormality of the skin Nephrotic syndrome Sepsis Pruritus Severe short stature Edema Fever Cellular immunodeficiency B lymphocytopenia Sensory neuropathy Frontal bossing Abnormality of movement Arthrogryposis multiplex congenita Prominent nasal bridge Protruding ear Camptodactyly Mental deterioration High forehead Micropenis Babinski sign Intellectual disability, mild Gait disturbance Recurrent fungal infections Downslanted palpebral fissures Dysarthria Hyperreflexia High palate Hypertelorism Severe B lymphocytopenia Desquamation of skin soon after birth Abnormal lymphocyte morphology Generalized lymphadenopathy Protracted diarrhea Increased circulating cortisol level Adrenal hyperplasia Cyanosis Myalgia Generalized tonic-clonic seizures Dilated cardiomyopathy Cough Nyctalopia Scarring Autistic behavior Postnatal growth retardation Abnormality of the kidney Proteinuria Conductive hearing impairment Ophthalmoplegia Elevated hepatic transaminase Deeply set eye Jaundice Pes planus Kyphoscoliosis Gastroesophageal reflux Dyspnea Autism Weight loss Respiratory failure Hypermetropia Pulmonic stenosis Abdominal pain Ascites Specific learning disability Progressive visual loss Growth hormone deficiency Gastrointestinal hemorrhage Round face Urinary incontinence Vesicoureteral reflux Asthma Abdominal distention Sleep disturbance Carious teeth Nephropathy Hepatic steatosis Retinal dystrophy Hirsutism Hepatic failure Tachycardia Cirrhosis Stage 5 chronic kidney disease Retinal degeneration Infertility Polydactyly Hyperhidrosis Antinuclear antibody positivity Chronic hepatitis Growth delay Ataxia Short stature Global developmental delay Patchy atrophy of the retinal pigment epithelium Decreased circulating parathyroid hormone level Salt craving Chronic atrophic gastritis Abnormality of calcium-phosphate metabolism Keratoconjunctivitis Strabismus Gastritis Central diabetes insipidus Alopecia universalis Decreased circulating aldosterone level Alopecia totalis Tetany Achalasia Abnormality of the cerebral vasculature Chronic mucocutaneous candidiasis Asplenia Nystagmus Pain Myoclonus Behavioral abnormality Hyporeflexia Patent ductus arteriosus Visual loss Clinodactyly Encephalopathy Depressivity Obesity Dilatation Renal insufficiency Kyphosis Abnormality of the dentition Feeding difficulties Congestive heart failure Blindness Cardiomyopathy Respiratory distress Short neck Respiratory insufficiency Fatigue Optic atrophy Hypertension Motor delay Perifollicular erythema



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