Autoimmunity, and Ichthyosis

Diseases related with Autoimmunity and Ichthyosis

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


Top matches:

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 BATHING SUIT ICHTHYOSIS


Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body.

BATHING SUIT ICHTHYOSIS Is also known as bsi

Related symptoms:

  • Ichthyosis


SOURCES: ORPHANET MENDELIAN

More info about BATHING SUIT ICHTHYOSIS

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Other less relevant matches:

Low match ACRAL SELF-HEALING COLLODION BABY


Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities.

ACRAL SELF-HEALING COLLODION BABY Is also known as acral shcb

Related symptoms:

  • Ichthyosis


SOURCES: ORPHANET MENDELIAN

More info about ACRAL SELF-HEALING COLLODION BABY

Low match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

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 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14; ARCI14


Related symptoms:

  • Hyperkeratosis
  • Erythema
  • Pruritus
  • Ichthyosis
  • Scaling skin


SOURCES: OMIM MENDELIAN

More info about ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14; ARCI14

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 NEVUS COMEDONICUS SYNDROME


Nevus comedonicus (NC) is a rare type of epidermal nevus with predilection for the face and neck area. The condition develops within the first decade of life in most patients. NC is characterized by dilated, plugged follicular ostia containing lamellar keratinaceous material and grouped in a honeycomb pattern; the distribution of lesions may be unilateral, bilateral, linear, interrupted, segmental, or along the lines of Blaschko. NC may be nonpyogenic with an acne-like appearance or associated with the formation of cysts, papules, pustules, and abscesses. Histologically, the lesions are large, grouped, dilated follicular ostia devoid of hair shafts but filled with keratin layers (summary by Tchernev et al., 2013).

Related symptoms:

  • Seizures
  • Microcephaly
  • Scoliosis
  • Cataract
  • Alopecia


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEVUS COMEDONICUS SYNDROME

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

Top 5 symptoms//phenotypes associated to Autoimmunity and Ichthyosis

Symptoms // Phenotype % cases
Anemia Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Atopic dermatitis Autoimmune hemolytic anemia Hemolytic anemia Cataract Hypothyroidism Diarrhea

Rare Symptoms - Less than 30% cases


Respiratory tract infection Fever Intellectual disability Global developmental delay Immunodeficiency Hearing impairment Blindness Abnormality of the dentition Pruritus Hypogonadism Diabetes mellitus Dry skin Abnormal facial shape Delayed puberty Comedo Thyroiditis Recurrent infections Hyperkeratosis Lymphopenia Respiratory insufficiency Lymphadenopathy Neutropenia Eczema Inflammatory abnormality of the skin Photophobia Abnormal lung morphology Abnormal intestine morphology Erythema Type I diabetes mellitus Epidermal acanthosis Hepatosplenomegaly Pain Papule Arthritis Vitiligo Transient ischemic attack Abnormality of visual evoked potentials Heart block Hypoparathyroidism Mitochondrial myopathy Progressive external ophthalmoplegia Neonatal hypoglycemia Posterior subcapsular cataract Xerostomia Reduced consciousness/confusion Delusions Anterior hypopituitarism Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Ileus Left ventricular failure Seborrheic dermatitis Stroke-like episode Drowsiness Gait imbalance Cardiorespiratory arrest Hemianopia Cerebral ischemia Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Facial diplegia Hashimoto thyroiditis Visual field defect Distal arthrogryposis Aortic aneurysm Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Hemiplegia Hemiplegia/hemiparesis Bilateral ptosis Hypercalciuria Decreased nerve conduction velocity Cachexia Atrioventricular block Chronic kidney disease Growth abnormality Easy fatigability Mask-like facies Focal segmental glomerulosclerosis Pulmonary embolism Multiple lipomas Primary adrenal insufficiency Abnormality of immune system physiology Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Prolonged QT interval Abnormality of neuronal migration Episodic vomiting Hyperkalemia Dysphasia Vestibular dysfunction Aphasia Bundle branch block Adrenal insufficiency Overlapping toe Abnormality of the renal tubule Spotty hypopigmentation Motor polyneuropathy Scoliosis Abnormal vertebral morphology Nevus Abnormality of the foot Toe syndactyly Finger syndactyly Scarring Alopecia Punctate keratitis Spina bifida Polyarticular arthritis Increased IgA level Corneal neovascularization Villous atrophy Follicular hyperkeratosis Antinuclear antibody positivity Uveitis Keratoconjunctivitis sicca Abnormality of the hair Spina bifida occulta Keratitis Leukemia Primary hypothyroidism Recurrent ear infections Autoimmune thrombocytopenia Scleroderma Celiac disease Colitis Interstitial pulmonary abnormality Decreased antibody level in blood Arthralgia Preaxial polydactyly Recurrent respiratory infections Pneumonia Thrombocytopenia Epidermal nevus Nevus flammeus Pustule Hamartoma Acne Atrophic scars Chronic diarrhea Dysesthesia Abnormal nerve conduction velocity Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Auditory hallucinations Paronychia Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Goiter Abnormal mitochondrial morphology Hyperhidrosis Bilateral intracranial calcifications Splenomegaly Edema Congenital ichthyosiform erythroderma Scaling skin Hypotrichosis Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Episodic quadriplegia Edema of the dorsum of hands Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Hyperkinesis Abnormality of retinal pigmentation Schizophrenia Vomiting Cerebral atrophy Headache Renal insufficiency Kyphosis Dystonia Hypertonia Congestive heart failure Cerebellar atrophy Encephalopathy Myopathy Cardiomyopathy Respiratory distress Short neck Ventriculomegaly Dysphagia Fatigue Gait disturbance Depressivity Visual loss Optic atrophy Osteoporosis Gastroesophageal reflux Acidosis Dyspnea Autism Weight loss Gait ataxia Cerebral cortical atrophy Abdominal pain Myoclonus Arrhythmia Dementia Rod-cone dystrophy Cerebellar hypoplasia Constipation Delayed skeletal maturation Elevated serum creatine phosphokinase Hyporeflexia Areflexia Tremor Skeletal muscle atrophy EEG abnormality Osteosarcoma Short phalanx of finger Short distal phalanx of finger Short nose Depressed nasal bridge Erythroid dysplasia Folliculitis Protein-losing enteropathy Severe intrauterine growth retardation Systemic lupus erythematosus Erythroderma Myelodysplasia Recurrent skin infections Bronchiectasis Postnatal growth retardation Respiratory failure Glaucoma Intrauterine growth retardation Anosmia Abnormality of the vertebral column Dysarthria Ptosis Hyperreflexia Hepatomegaly Peripheral neuropathy Hypertension Motor delay Visual impairment Feeding difficulties Cognitive impairment Muscular hypotonia Epiphyseal stippling Muscle weakness Sensorineural hearing impairment Nystagmus Hypertelorism Ataxia Maternal autoimmune disease Short nasal septum Vitamin K deficiency Jaundice Myalgia Mutism Type II diabetes mellitus Hypertrichosis Hemiparesis Atrial fibrillation Ventricular hypertrophy Psychosis Status epilepticus Pulmonary arterial hypertension Nephrotic syndrome Decreased body weight Bilateral sensorineural hearing impairment Generalized-onset seizure Abnormality of the cardiovascular system Pigmentary retinopathy Cerebral calcification Amenorrhea Specific learning disability Hip dysplasia Involuntary movements Left ventricular hypertrophy Increased serum lactate Exercise intolerance Hypopigmented skin patches Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Pancreatitis Macular degeneration Purpura Hypogonadotrophic hypogonadism Anorexia Generalized hirsutism EMG abnormality Truncal ataxia Cardiac arrest Clonus Cerebral visual impairment Hallucinations Gingival overgrowth Memory impairment Migraine Anxiety Nyctalopia Ophthalmoplegia Arthrogryposis multiplex congenita Lethargy Generalized tonic-clonic seizures Dilated cardiomyopathy Neurological speech impairment Stroke Attention deficit hyperactivity disorder Abnormality of the liver Carious teeth Protruding ear Abnormality of the pinna Developmental regression Feeding difficulties in infancy Mental deterioration Apnea Hypertrophic cardiomyopathy Proteinuria Congenital cataract Nausea and vomiting Sensory impairment Hirsutism Sudden cardiac death Generalized myoclonic seizures Abnormal cerebellum morphology Muscle cramps Postural instability Coma Polyneuropathy Nephropathy Polymicrogyria Malabsorption Nausea Lactic acidosis Peripheral axonal neuropathy Vertigo Confusion Paresthesia Dysmetria Anal atresia Interstitial pneumonitis



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