Autoimmunity, and Sparse and thin eyebrow

Diseases related with Autoimmunity and Sparse and thin eyebrow

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


Top matches:

Medium 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 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 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

Mendelian

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

Learn more

Other less relevant matches:

Low match CRONKHITE-CANADA SYNDROME


Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.

CRONKHITE-CANADA SYNDROME Is also known as gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|gastrointestinal polyposis-ectodermal changes syndrome|cronkhite-canada syndrome

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CRONKHITE-CANADA SYNDROME

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 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 ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS


ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS Is also known as hid syndrome

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Alopecia
  • Pes cavus
  • Hyperkeratosis


SOURCES: OMIM MESH MENDELIAN

More info about ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS

Low match PACHYONYCHIA CONGENITA 2; PC2


Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011).For a discussion of genetic heterogeneity of pachyonychia congenita, see {167200}. Historical Classification of Pachyonychia CongenitaGorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type.Smith et al. (1998) stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas (OMIM ) is a major clinical feature. Steatocystoma, also known as eruptive vellus cyst, is a cystic hamartoma lined by sebaceous ductal epithelium.On the basis of a study of 13 patients with PC type 1 or type 2, Terrinoni et al. (2001) concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis.

PACHYONYCHIA CONGENITA 2; PC2 Is also known as pachyonychia congenita, jackson-lawler type, formerly

Related symptoms:

  • Hyperhidrosis
  • Hyperkeratosis
  • Nail dystrophy
  • Nail dysplasia
  • Sparse scalp hair


SOURCES: OMIM MENDELIAN

More info about PACHYONYCHIA CONGENITA 2; PC2

Low match KERATOSIS FOLLICULARIS SPINULOSA DECALVANS


Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.

KERATOSIS FOLLICULARIS SPINULOSA DECALVANS Is also known as keratosis follicularis spinulosa decalvans cum ophiasi

Related symptoms:

  • Myopia
  • Alopecia
  • Hyperkeratosis
  • Photophobia
  • Scarring


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KERATOSIS FOLLICULARIS SPINULOSA DECALVANS

Low match NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME


Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.

NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME Is also known as ihsc|neonatal ichthyosis-sclerosing cholangitis syndrome|ichthyosis-hypotrichosis-sclerosing cholangitis syndrome|ichthyosis-sclerosing cholangitis syndrome|nisch syndrome

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Alopecia
  • Jaundice
  • Scarring


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Sparse and thin eyebrow

Symptoms // Phenotype % cases
Alopecia Common - Between 50% and 80% cases
Diarrhea Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Hashimoto thyroiditis Uncommon - Between 30% and 50% cases
Alopecia of scalp Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Autoimmunity and Sparse and thin eyebrow. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypotrichosis Immunodeficiency Nail dystrophy Scarring Hepatomegaly Scarring alopecia of scalp Hypoplasia of the thymus Seizures Intestinal malrotation Erythroderma Nail dysplasia Sparse hair Sparse scalp hair Hyperkeratosis Hypothyroidism Ichthyosis Sparse eyelashes Splenomegaly Severe combined immunodeficiency Ventricular septal defect Thickened skin Autoimmune hemolytic anemia Thyroiditis Hepatitis Dry skin Hearing impairment Absent eyebrow Aplasia/Hypoplasia of the eyebrow

Rare Symptoms - Less than 30% cases


Cholangitis Malabsorption Hemolytic anemia Combined immunodeficiency Keratitis Dystrophic fingernails Palmoplantar keratoderma Autoimmune thrombocytopenia Sepsis Edema Hypodontia Hematochezia Abnormal intestine morphology Papule Prominent nose Dental malocclusion Decreased antibody level in blood Sensorineural hearing impairment Sclerosing cholangitis Increased body weight Sparse body hair Purpura Scaling skin Hyperbilirubinemia Intellectual disability Anal atresia Protruding ear Type I diabetes mellitus Bloody diarrhea Ectopic calcification Intestinal atresia Intellectual disability, mild Punctate keratitis Myopia Psoriasiform dermatitis High palate Jejunoileal ulceration Omphalocele Abdominal distention Polyhydramnios Intrauterine growth retardation Failure to thrive Growth delay Scoliosis Rectal abscess Abnormality of the skeletal system Severe short stature Congenital cystic adenomatoid malformation of the lung Pneumonia Abnormality of the ductus choledochus Peritoneal abscess Folliculitis Corneal dystrophy Jaundice Gastrointestinal atresia Micropenis Clubbing of fingers Furrowed tongue Macrocephaly Cataract Dystrophic toenail Pain Fatigue Progressive alopecia Abdominal pain Intestinal polyposis Abnormality of the vasculature Protein-losing enteropathy Stomach cancer Hypoplasia of the fallopian tube Hamartomatous polyposis Peripheral edema Progressive extrapyramidal movement disorder Patchy alopecia Decreased serum insulin-like growth factor 1 Hypomagnesemia Neoplasm Muscle weakness Recurrent abscess formation Paresthesia Abnormality of skin pigmentation Tapered finger Anorexia Lymphedema Hyperpigmentation of the skin Hypocalcemia Abnormality of the fingernails Cachexia Xerostomia Hypokalemia Hypoalbuminemia Clubbing Hypoplastic toenails Colon cancer Weight loss Generalized hyperpigmentation Thromboembolism Vomiting Glossitis Lymphadenopathy Gastrointestinal carcinoma Palmoplantar hyperhidrosis Ectropion Conjunctivitis Abnormality of the nail Eczema Retinal detachment Photophobia Steatocystoma multiplex Epidermoid cyst Follicular hyperkeratosis Dry hair Subungual hyperkeratosis Oral leukoplakia Hamartoma Natal tooth Palmoplantar hyperkeratosis Hoarse voice Hyperhidrosis Blepharitis Entropion Absent eyelashes Portal hypertension Absent hair Hypotrichosis of the scalp Orthokeratosis Thick hair Concave nail Parakeratosis Abnormality of blood and blood-forming tissues Oligodontia Facial erythema Acanthosis nigricans Abnormality of dental enamel Hypoplasia of dental enamel Cholestasis Epidermal acanthosis Ichthyosis follicularis Perifollicular fibrosis Corneal scarring Cobblestone-like hyperkeratosis Squamous cell carcinoma Decreased taste sensation Fever Nephrotic syndrome Lymphoma Increased thyroid-stimulating hormone level Pruritus Skin rash Hepatosplenomegaly Thrombocytopenia Decreased proportion of CD8-positive T cells Abnormality of the metaphysis Jejunal atresia Microcolon Duodenal stenosis Duodenal atresia Abnormality of abdomen morphology Inflammation of the large intestine Lymphopenia Small for gestational age Inflammatory abnormality of the skin Chronic diarrhea Recurrent skin infections B lymphocytopenia Pes cavus Severe B lymphocytopenia Desquamation of skin soon after birth Abnormal lymphocyte morphology Generalized lymphadenopathy Protracted diarrhea Recurrent fungal infections Metaphyseal chondrodysplasia Short toe Cellular immunodeficiency Recurrent viral infections Hypoproteinemia Leukocytosis Eosinophilia Disproportionate short-limb short stature Shock Recurrent bacterial infections Streak ovary Abnormality of extrapyramidal motor function Abnormal spermatogenesis Otitis media Heterotopia Recurrent otitis media Small nail Blue sclerae Coarctation of aorta Congenital diaphragmatic hernia Microdontia Growth hormone deficiency Long eyelashes Single transverse palmar crease Highly arched eyebrow Hirsutism Wide nose Polymicrogyria Joint hypermobility Astigmatism Abnormal cardiac septum morphology Renal dysplasia Cafe-au-lait spot Paralysis Bilateral cryptorchidism Transposition of the great arteries Severe hearing impairment Long palpebral fissure Celiac disease Right bundle branch block Bundle branch block Hydroureter Preauricular pit Cupped ear Abnormal vertebral morphology Precocious puberty Brittle hair Failure to thrive in infancy Poor suck Abnormality of the urinary system Abnormal dermatoglyphics Horseshoe kidney Congenital hip dislocation Coloboma Respiratory tract infection Congenital hypothyroidism Cryptorchidism Kyphosis Abnormality of the dentition Atrial septal defect Wide nasal bridge Brachydactyly Epicanthus Feeding difficulties Ptosis Cleft palate Dilatation Muscular hypotonia Abnormal facial shape Strabismus Micrognathia Microcephaly Generalized hypotonia Short stature Global developmental delay Renal insufficiency Recurrent infections Abnormality of the pinna Pes planus Postnatal growth retardation Feeding difficulties in infancy Abnormality of the kidney Intellectual disability, moderate Joint laxity Anxiety Hydronephrosis Hypoglycemia Macrotia Hernia Posteriorly rotated ears Abnormal heart morphology Visual loss Patent ductus arteriosus Clinodactyly Hypospadias Depressivity Obesity Cerebellar vermis atrophy IgA deficiency Abnormal T-wave Mental deterioration Triangular face Polyneuropathy Sensory neuropathy Abnormality of movement Delayed puberty Arthrogryposis multiplex congenita Prominent nasal bridge Camptodactyly High forehead Amenorrhea Diabetes mellitus Hypogonadism Babinski sign Abnormality of metabolism/homeostasis Dystonia Frontal bossing Gait disturbance Downslanted palpebral fissures Decreased testicular size Dehydration Hyperreflexia Premature ovarian insufficiency Decreased serum estradiol Decreased serum testosterone level Anodontia Heart block Insulin-resistant diabetes mellitus Hypoplasia of the uterus Flat occiput Sparse eyebrow Hyperlipidemia Bilateral sensorineural hearing impairment Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Hallucinations Choreoathetosis Primary amenorrhea Myocardial infarction Fine hair Psychosis Dysarthria Peripheral neuropathy Anal stenosis Optic nerve coloboma Bronchomalacia Diaphragmatic eventration Ureteropelvic junction obstruction Recurrent ear infections Anterior plagiocephaly Trichorrhexis nodosa Broad philtrum Small face Mitral stenosis Prominent fingertip pads Retinal coloboma Short 5th finger Depressed nasal tip Short columella Patellar dislocation Vitiligo Scaphocephaly Overweight Biliary atresia Recurrent aspiration pneumonia Delayed speech and language development Eversion of lateral third of lower eyelids Cognitive impairment Hypertelorism Congenital mitral stenosis Anoperineal fistula Nocturnal lagophthalmos Vertical orbital dystopia Pilonidal sinus Short nasal septum Premature thelarche Abnormality of the middle ear Prominent eyelashes Liver abscess Single ventricle Crossed fused renal ectopia Anorectal anomaly Common atrium Vertebral clefting Epibulbar dermoid Acute hepatitis



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 Retrognathia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more