Autoimmunity, and Hyperkeratosis

Diseases related with Autoimmunity and Hyperkeratosis

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


Top matches:

Low match AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK


Autoinflammation with arthritis and dyskeratosis is characterized by recurrent fever, widespread skin dyskeratosis, arthritis, elevated biologic markers of inflammation, and mild autoimmunity with a high transitional B-cell level (summary by Grandemange et al., 2016).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Fever
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK

Low match NOONAN SYNDROME 8; NS8


Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

Low match COWDEN SYNDROME 5; CWS5


Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 5; CWS5

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Other less relevant matches:

Low match COWDEN SYNDROME 6; CWS6


Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 6; CWS6

Low match COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY


Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

Low match CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1


CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 Is also known as chondrodysplasia punctata, brachytelephalangic|cpxr

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1

Low match PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

Low match STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE


Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune DiseaseSee also ADMIO2 (OMIM ), caused by mutation in the ZAP70 gene (OMIM ) on chromosome 2q12.

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE

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

Low match DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS


Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).

DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS Is also known as progressive cutaneous systemic scleroderma|diffuse cutaneous systemic scleroderma|progressive cutaneous systemic sclerosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Hypertension
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS

Top 5 symptoms//phenotypes associated to Autoimmunity and Hyperkeratosis

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hypothyroidism Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Autoimmune hemolytic anemia Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Abnormality of the cardiovascular system Hashimoto thyroiditis Systemic lupus erythematosus Abnormal lung morphology High palate Failure to thrive Recurrent infections Immunodeficiency Thyroiditis Inflammatory abnormality of the skin Cataract Abnormal facial shape Micrognathia Seizures Intellectual disability, mild Hepatosplenomegaly Arthritis Dry skin Hemolytic anemia Scoliosis Short stature

Rare Symptoms - Less than 30% cases


Ovarian cyst Hydrocele testis Meningioma Skin tags Furrowed tongue Hamartomatous polyposis Gynecomastia Hyperthyroidism Goiter Palmoplantar hyperkeratosis Breast carcinoma Colonic diverticula Intention tremor Hypoplasia of the maxilla Narrow mouth Pectus excavatum Kyphosis Subcutaneous lipoma Growth delay Angioid streaks of the fundus Short nose Scleroderma Type I diabetes mellitus Arthralgia Pain Psoriasiform dermatitis Skin ulcer Hepatitis Carious teeth Recurrent respiratory infections Thrombocytopenia Vomiting Depressed nasal bridge Thyroid adenoma Atopic dermatitis Abnormal intestine morphology Lymphopenia Eczema Neutropenia Lymphadenopathy Ichthyosis Intrauterine growth retardation Fibroadenoma of the breast Transitional cell carcinoma of the bladder Progressive macrocephaly Varicocele Respiratory tract infection Global developmental delay Myopia Low posterior hairline Hypertelorism Edema Ptosis Splenomegaly Delayed speech and language development Ventricular septal defect Polyhydramnios Leukemia Downslanted palpebral fissures Papule Elevated erythrocyte sedimentation rate Pneumonia Diabetes mellitus Abnormality of the fingernails Generalized hirsutism Recurrent pneumonia Delayed puberty Decreased antibody level in blood Respiratory insufficiency Interstitial pulmonary abnormality Colitis Celiac disease Fever Autoimmune thrombocytopenia Recurrent ear infections Primary hypothyroidism Interstitial pneumonitis Sparse hair Abnormality of the dentition Recurrent cystitis Petechiae Chronic lung disease Abnormality of the hip bone Aplasia/Hypoplasia of the skin Abnormality of the immune system Increased antibody level in blood Prolonged neonatal jaundice Hypoplasia of the zygomatic bone Osteomyelitis Concave nasal ridge Diffuse telangiectasia White forelock Abnormality of the middle ear Poliosis Hyperhidrosis Abdominal distention Facial hirsutism Crusting erythematous dermatitis Reduced bone mineral density Nail dystrophy Alopecia of scalp Intestinal malrotation Pulmonary fibrosis Dyspnea Gastroesophageal reflux Malabsorption Nausea and vomiting Abnormality of the skin Pulmonary arterial hypertension Telangiectasia Osteolysis Telangiectasia of the skin Constipation Xerostomia Pulmonary infiltrates Osteolytic defects of the phalanges of the hand Oliguria Dyspareunia Decreased urine output Hypertensive crisis Narrow foramen obturatorium Weight loss Renal insufficiency Omphalocele Rectal abscess Thickened skin Absent eyebrow Low anterior hairline Severe combined immunodeficiency Hypoplasia of the thymus Intestinal atresia Ectopic calcification Bloody diarrhea Jejunoileal ulceration Congestive heart failure Gastrointestinal atresia Congenital cystic adenomatoid malformation of the lung Peritoneal abscess Abnormality of the ductus choledochus Recurrent abscess formation Muscle weakness Flexion contracture Hypertension Dysphagia Bilateral single transverse palmar creases Cutaneous photosensitivity Photophobia Polyarticular arthritis Cognitive impairment Low-set ears Glaucoma Respiratory failure Postnatal growth retardation Cryptorchidism Punctate keratitis Comedo Increased IgA level Epicanthus Bronchiectasis Corneal neovascularization Villous atrophy Recurrent skin infections Myelodysplasia Erythroderma Follicular hyperkeratosis Severe intrauterine growth retardation Blindness Macrocephaly Protein-losing enteropathy Hyperpigmentation of the skin Chylothorax Graves disease Acute lymphoblastic leukemia Curly hair Abnormality of the sternum Pleural effusion Hyperextensible skin Relative macrocephaly Left ventricular hypertrophy Short neck Ventricular hypertrophy Webbed neck Pulmonic stenosis Abnormal cardiac septum morphology Hypertrophic cardiomyopathy Abnormal heart morphology Patent ductus arteriosus Atrial septal defect Cardiomyopathy Osteosarcoma Folliculitis Lymphedema Arachnodactyly Proptosis High forehead Elevated hepatic transaminase Erythema Skin rash Pruritus Epidermal acanthosis Genu valgum Hirsutism Chronic diarrhea Palmoplantar keratoderma Asthma Convex nasal ridge Dehydration Palmoplantar cutis laxa Depressed nasal ridge Thin skin Abnormality of retinal pigmentation Prominent forehead Obesity Erythroid dysplasia Abnormality of the vertebral column Antinuclear antibody positivity Microcephaly Uveitis Keratoconjunctivitis sicca Hypogonadism Short distal phalanx of finger Short phalanx of finger Anosmia Epiphyseal stippling Keratitis Vitamin K deficiency Short nasal septum Maternal autoimmune disease Visual impairment Hepatomegaly Intellectual disability, severe Atrophic scars Malar flattening Abnormality of metabolism/homeostasis Abnormal bowel sounds



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