Autoimmunity, and Camptodactyly

Diseases related with Autoimmunity and Camptodactyly

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


Top matches:

Low match SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY


Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Low match YAO SYNDROME; YAOS


Yao syndrome is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants (Yao and Shen, 2017).

Related symptoms:

  • Pain
  • Fever
  • Diarrhea
  • Abdominal pain
  • Weight loss


SOURCES: OMIM MENDELIAN

More info about YAO SYNDROME; YAOS

Low match BLAU SYNDROME; BLAUS


Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998).

BLAU SYNDROME; BLAUS Is also known as arthrocutaneouveal granulomatosis|granulomatous inflammatory arthritis, dermatitis, and uveitis, familial|eos|jabs syndrome|granulomatosis, familial juvenile systemic|acug|sarcoidosis, early-onset|granulomatosis, familial, blau type

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Cataract
  • Flexion contracture
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about BLAU SYNDROME; BLAUS

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Other less relevant matches:

Low match MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA


Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (OMIM ), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA Is also known as osteolysis, hereditary multicentric|torg syndrome|al-aqeel sewairi syndrome|nodulosis-arthropathy-osteolysis syndrome|torg-winchester syndrome, formerly|nao syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

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 CONGENITAL PREKALLIKREIN DEFICIENCY


A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease.

CONGENITAL PREKALLIKREIN DEFICIENCY Is also known as pkk deficiency|fletcher factor deficiency

Related symptoms:

  • Autoimmunity
  • Arthrogryposis multiplex congenita
  • Abnormal bleeding
  • Prolonged partial thromboplastin time
  • Graves disease


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL PREKALLIKREIN DEFICIENCY

Low match LIMITED CUTANEOUS SYSTEMIC SCLEROSIS


Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc; see this term) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.

LIMITED CUTANEOUS SYSTEMIC SCLEROSIS Is also known as limited cutaneous systemic scleroderma

Related symptoms:

  • Dysphagia
  • Gastroesophageal reflux
  • Autoimmunity
  • Nausea and vomiting
  • Abnormality of skin pigmentation


SOURCES: ORPHANET MENDELIAN

More info about LIMITED CUTANEOUS SYSTEMIC SCLEROSIS

Low match MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6


Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 Is also known as myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|congenital myasthenic syndrome type ia2, formerly|cms ia2, formerly|cms1a2, formerly|cmsea|fimg2, formerly|myasthenia, familial infantile, formerly|myasthenia gravis, familial in

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6

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 Camptodactyly

Symptoms // Phenotype % cases
Arthritis Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Hypothyroidism Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Diabetes mellitus Arthrogryposis multiplex congenita Flexion contracture Frontal bossing Dysphagia Skin ulcer Arthralgia Failure to thrive

Rare Symptoms - Less than 30% cases


Psychosis Dyspnea Skin rash Papule Inflammatory abnormality of the skin Abnormality of the skin Uveitis Xerostomia Pulmonary arterial hypertension Osteolysis Cataract Hypertension Peripheral neuropathy Subcutaneous nodule Abnormality of the ear Rheumatoid arthritis Weight loss Pain Hepatitis Pulmonary fibrosis Telangiectasia of the skin Raynaud phenomenon Dysarthria Gait disturbance Respiratory failure Proptosis Nausea and vomiting Malabsorption Asthma Hypertelorism Narrow foramen obturatorium Generalized hypotonia Muscle weakness Seizures Scoliosis Gastroesophageal reflux Graves disease Insulin-resistant diabetes mellitus Heart block Anodontia Decreased serum testosterone level Decreased serum estradiol Abnormality of skin pigmentation Abnormal T-wave Progressive extrapyramidal movement disorder Abnormal bleeding Progressive alopecia Abnormal spermatogenesis Prolonged partial thromboplastin time Hypoplasia of the fallopian tube Increased thyroid-stimulating hormone level Streak ovary Decreased serum insulin-like growth factor 1 Autoimmune thrombocytopenia Global developmental delay Hypoplasia of the uterus Amenorrhea High forehead Mental deterioration Protruding ear Sparse hair Prominent nasal bridge Hypotrichosis Delayed puberty Abnormality of movement Sensory neuropathy Polyneuropathy Triangular face Prominent nose Dental malocclusion Decreased testicular size Dehydration Aplasia/Hypoplasia of the eyebrow Bilateral sensorineural hearing impairment Abnormality of extrapyramidal motor function Fine hair Myocardial infarction Primary amenorrhea Sparse scalp hair Hallucinations Hypergonadotropic hypogonadism Hypogonadotrophic hypogonadism Purpura Hyperlipidemia Premature ovarian insufficiency Sparse eyebrow Flat occiput Choreoathetosis Apnea Joint contracture of the hand Muscle specific kinase antibody positivity Hashimoto thyroiditis Acrocyanosis Myositis Type 2 muscle fiber atrophy EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Abnormality of the thymus Pure red cell aplasia Hyperacusis Decreased miniature endplate potentials Sudden episodic apnea Apneic episodes precipitated by illness, fatigue, stress Acetylcholine receptor antibody positivity Generalized hypotonia due to defect at the neuromuscular junction Single fiber EMG abnormality Fatigable weakness Vomiting Congestive heart failure Renal insufficiency Constipation Carious teeth Telangiectasia Scleroderma Pulmonary infiltrates Osteolytic defects of the phalanges of the hand Oliguria Dyspareunia Decreased urine output Hypertensive crisis Primary adrenal insufficiency Hyperthyroidism Hypopigmented skin patches Paresthesia Mucosal telangiectasiae Contractures involving the joints of the feet Strabismus Ptosis Feeding difficulties Respiratory distress Polyhydramnios Rigidity Proximal muscle weakness Hypogonadism Respiratory tract infection Paralysis Ophthalmoplegia Hemolytic anemia Weak cry Tapered finger Generalized muscle weakness Cyanosis Diplopia Aspiration Respiratory insufficiency due to muscle weakness Easy fatigability Systemic lupus erythematosus Poor suck Ophthalmoparesis Bulbar palsy Glycosuria Abnormality of the immune system Micropenis Widened metacarpal shaft Alopecia Cystoid macular edema Glaucoma Camptodactyly of finger Eczema Vasculitis Hypercalcemia Increased antibody level in blood Abnormal joint morphology Optic neuropathy Joint swelling Abnormal cranial nerve morphology Macular edema Juvenile rheumatoid arthritis Synovitis Abducens palsy Edema Flexion contracture of toe Granulomatosis Band keratopathy Anterior uveitis Posterior uveitis Iridocyclitis Iritis Large vessel vasculitis Panuveitis Tendonitis Intermittent generalized erythematous papular rash Nongranulomatous uveitis Short stature Blindness Visual impairment Brachydactyly Relative macrocephaly Abnormal facial shape Low-set ears Hepatomegaly Macrocephaly Splenomegaly Clinodactyly Posteriorly rotated ears Dolichocephaly Abnormal lung morphology Chronic diarrhea Type I diabetes mellitus Short chin Abnormal intestine morphology Prominent occiput Pleuritis Chronic lung disease Interstitial pneumonitis Abdominal pain Myalgia Chest pain Ventricular hypertrophy Nephrolithiasis Blurred vision Elevated erythrocyte sedimentation rate Keratoconjunctivitis sicca Pericarditis Episodic fever Episodic abdominal pain Oral ulcer Micrognathia Kyphosis Babinski sign Interphalangeal joint erosions Generalized hypertrichosis Camptodactyly of toe Broad metatarsal Protrusio acetabuli Contractures of the large joints C1-C2 subluxation Finger swelling Severe generalized osteoporosis Metacarpal osteolysis Metatarsal osteolysis Carpal osteolysis Thin metacarpal cortices Osteolysis involving tarsal bones Ankylosis of feet small joints Delayed closure of the anterior fontanelle Peripheral opacification of the cornea Thin metatarsal cortices Distal tapering of metatarsals Sclerotic cranial sutures Intellectual disability Sensorineural hearing impairment Cognitive impairment High palate Delayed speech and language development Hyperreflexia Downslanted palpebral fissures Dystonia Intellectual disability, mild Abnormality of metabolism/homeostasis Wrist flexion contracture Generalized osteoporosis Pes cavus Hypertrichosis Osteoporosis Brachycephaly Kyphoscoliosis Osteopenia Coarse facial features Pes planus Corneal opacity Bulbous nose Hirsutism Small hand Delayed eruption of teeth Hypoplasia of the maxilla Interphalangeal joint contracture of finger Split hand Vertebral compression fractures Decreased body weight Thickened skin Gingival overgrowth Knee flexion contracture Metaphyseal widening Abnormality of the thorax Hypermelanotic macule Abnormality of the thyroid gland Narrow nasal bridge Arthropathy Hip contracture Ankle contracture Ankylosis Antinuclear antibody positivity Abnormal bowel sounds



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