Autoimmunity, and Protruding ear

Diseases related with Autoimmunity and Protruding ear

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


Top matches:

Medium match KRABBE DISEASE


Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay (Wenger et al., 2000). There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. The later-onset forms have less disease severity and slower progression. These later-onset patients can be clinically normal until weakness, vision loss and intellectual regression become evident; those with adult onset may have spastic paraparesis as the only symptom. Disease severity is variable, even within families (summary by Tappino et al., 2010).

KRABBE DISEASE Is also known as gcl|galc deficiency|galactosylceramide beta-galactosidase deficiency|globoid cell leukodystrophy|galactocerebrosidase deficiency|globoid cell leukoencephalopathy|gld

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KRABBE DISEASE

Medium match CENANI-LENZ SYNDROME


Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

CENANI-LENZ SYNDROME Is also known as cenani-lenz syndactyly|cenani syndactyly|syndactyly type 7|syndactyly, type vii|cenani syndactylism

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CENANI-LENZ SYNDROME

Medium 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

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Other less relevant 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 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 MÜLLERIAN APLASIA AND HYPERANDROGENISM


Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence or underdevelopment of the uterus, and sometimes absence or underdevelopment of the vagina.

MÜLLERIAN APLASIA AND HYPERANDROGENISM Is also known as wnt4 deficiency|mÜllerian duct failure and hyperandrogenism|mullerian duct failure and hyperandrogenism

Related symptoms:

  • Short stature
  • Cleft palate
  • High palate
  • Brachydactyly
  • Short neck


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MÜLLERIAN APLASIA AND HYPERANDROGENISM

Low match ERYTHROKERATODERMIA VARIABILIS


The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991). Genetic Heterogeneity of Erythrokeratodermia Variabilis et ProgressivaSee EKVP2 (OMIM ), caused by mutation in the GJB4 gene (OMIM ); EKVP3 (OMIM ), caused by mutation in the GJA1 gene (OMIM ); EKVP4 (OMIM ), caused by mutation in the KDSR gene (OMIM ); and EKVP5 (OMIM ), caused by mutation in the KRT83 gene (OMIM ).

ERYTHROKERATODERMIA VARIABILIS Is also known as psek|erythrokeratodermia variabilis et progressiva|ekvp|ekv|erythrokeratodermia variabilis, mendes da costa type|erythrokeratodermia figurata, congenital familial, in plaques|erythrokeratodermia, progressive symmetric|erythrokeratodermia variabilis with e

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ERYTHROKERATODERMIA VARIABILIS

Low match PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11


PCH11 is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging. Additional features are more variable (summary by Marin-Valencia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11

Low match LIMB-MAMMARY SYNDROME


Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.

LIMB-MAMMARY SYNDROME Is also known as lms

Related symptoms:

  • Cleft palate
  • Syndactyly
  • Hypogonadism
  • Camptodactyly
  • Hypodontia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about LIMB-MAMMARY SYNDROME

Low match SECKEL SYNDROME 9; SCKL9


Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 9; SCKL9

Top 5 symptoms//phenotypes associated to Autoimmunity and Protruding ear

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Cleft palate Failure to thrive Hypothyroidism Amenorrhea Sensorineural hearing impairment Ataxia Hypogonadism Diarrhea Dysarthria High palate Nystagmus Ptosis Purpura Growth delay Generalized hypotonia Mental deterioration Hypodontia Brachydactyly Autoimmune thrombocytopenia Hypertrichosis Scoliosis Hypertelorism Micrognathia Diabetes mellitus Cataract Anal atresia Feeding difficulties Gait disturbance Hyperreflexia Peripheral neuropathy Hypertonia Visual loss Primary amenorrhea Cognitive impairment Recurrent respiratory infections Muscular hypotonia Hirsutism Weight loss

Rare Symptoms - Less than 30% cases


Talipes equinovarus Congenital cataract Vitiligo Generalized hirsutism Prominent nasal bridge Short philtrum Skeletal muscle atrophy Scaphocephaly Syndactyly Dysphagia Psychosis Dental malocclusion Ventriculomegaly Frontal bossing Downslanted palpebral fissures Bilateral sensorineural hearing impairment Ventricular septal defect Anemia Camptodactyly Renal agenesis Polyneuropathy Micropenis Thyroiditis Alopecia Hypergonadotropic hypogonadism Intellectual disability, mild Dystonia Arthrogryposis multiplex congenita Delayed speech and language development Delayed puberty Crossed fused renal ectopia Congenital hypothyroidism Convex nasal ridge Hypoplasia of the uterus Heart block Bundle branch block Muscle weakness Polymicrogyria Abnormal dermatoglyphics Congenital hip dislocation Prominent nose Hallucinations Strabismus Hypogonadotrophic hypogonadism Low-set ears Abnormal facial shape Coloboma Short neck Clonus Anxiety Feeding difficulties in infancy Generalized myoclonic seizures Abnormality of the pinna Sensory neuropathy Erythema Respiratory tract infection Attention deficit hyperactivity disorder Developmental regression Abnormal cardiac septum morphology Congenital diaphragmatic hernia EEG abnormality Pruritus Abnormality of metabolism/homeostasis Dilatation Malabsorption Vomiting Blindness Tremor Optic atrophy Fever Visual impairment Spasticity EMG abnormality Jaundice Hashimoto thyroiditis Renal insufficiency Obesity Hemiplegia Hernia Hemiplegia/hemiparesis Decreased nerve conduction velocity Depressivity Immunodeficiency Kyphosis Abnormality of the dentition Abnormal nerve conduction velocity Atrial septal defect Respiratory distress Hyporeflexia Facial diplegia Aortic dissection Cardiorespiratory arrest Left ventricular failure Mitochondrial myopathy Prolonged QT interval Delusions Progressive external ophthalmoplegia Posterior subcapsular cataract Visual field defect Transient ischemic attack Renal tubular dysfunction Xerostomia Seborrheic dermatitis Rhabdomyolysis Abnormality of visual evoked potentials Increased CSF lactate Atopic dermatitis Drowsiness Wolff-Parkinson-White syndrome Distal arthrogryposis Pulmonary embolism Visual hallucinations Primary adrenal insufficiency Abnormality of immune system physiology Cerebral ischemia Neonatal hypoglycemia Hyperthyroidism Reduced consciousness/confusion Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Tubulointerstitial nephritis Gait imbalance Anterior hypopituitarism Stroke-like episode Hypoparathyroidism Chronic kidney disease Hyperkalemia Pulmonary arterial hypertension Cerebral calcification Pigmentary retinopathy Abnormality of the cardiovascular system Generalized-onset seizure Nephrotic syndrome Type II diabetes mellitus Status epilepticus Hip dysplasia Ventricular hypertrophy Atrial fibrillation Hemiparesis Involuntary movements Decreased body weight Left ventricular hypertrophy Anorexia Specific learning disability Memory impairment Abnormality of retinal pigmentation Nausea Paresthesia Confusion Ichthyosis Vertigo Peripheral axonal neuropathy Lactic acidosis Nephropathy Increased serum lactate Coma Postural instability Muscle cramps Abnormal cerebellum morphology Sudden cardiac death Sensory impairment Migraine Gingival overgrowth Cerebral visual impairment Dysphasia Aplasia/Hypoplasia of the cerebellum Aortic aneurysm Abnormality of mitochondrial metabolism Hyponatremia Ophthalmoparesis Personality changes Intestinal obstruction Bifid scrotum Hypercalciuria Mask-like facies Focal segmental glomerulosclerosis Abnormality of neuronal migration Overlapping toe Adrenal insufficiency Aphasia Vestibular dysfunction Bilateral ptosis Cachexia Cardiac arrest Ragged-red muscle fibers Truncal ataxia Type I diabetes mellitus Exercise intolerance Macular degeneration Pancreatitis External ophthalmoplegia Reduced tendon reflexes Ischemic stroke Atrioventricular block Hypopigmented skin patches Mutism Schizophrenia Goiter Hyperkinesis Easy fatigability Growth abnormality Speech apraxia Abnormal mitochondrial shape Retinal pigment epithelial atrophy Agenesis of corpus callosum Stereotypy Broad-based gait Progressive neurologic deterioration Dandy-Walker malformation Esotropia Generalized muscle weakness Inability to walk Bulbous nose Talipes Poor speech Hypermetropia Abnormality of the nervous system Difficulty walking Hyperactivity Intellectual disability, severe Molar tooth sign on MRI Hypoplasia of the corpus callosum Patchy palmoplantar keratoderma Diffuse palmoplantar hyperkeratosis Diffuse palmoplantar keratoderma Generalized hyperkeratosis Hypergranulosis Abnormality of the testis Irregular hyperpigmentation Macule Hypermelanotic macule Scaling skin Palmoplantar hyperkeratosis Neoplasm of the skin Abnormality of the nail Limb ataxia Poor eye contact Thickened skin Polyhydramnios Chronic lung disease Recurrent lower respiratory tract infections Cortical gyral simplification Clitoral hypertrophy Multicystic kidney dysplasia Narrow face Recurrent urinary tract infections Pachygyria Abnormal lung morphology Decreased fetal movement Ambiguous genitalia Asthma Long face Small for gestational age Respiratory failure Poor coordination Hypohidrosis Impaired social interactions Happy demeanor Bifid uvula Ectodermal dysplasia Nail dysplasia Split hand Joint contracture of the hand Intrauterine growth retardation Hallux valgus Gonadal dysgenesis Hypoplastic nipples Ectrodactyly Split foot Lacrimal duct atresia Abnormality of the hair Cutaneous photosensitivity Abnormality of peripheral nerve conduction Auditory hallucinations Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Amaurosis fugax Paralytic ileus Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Nausea and vomiting Abnormal cochlea morphology Epidermal acanthosis Frontal balding Abnormal blistering of the skin Palmoplantar keratoderma Tapered finger Dry skin Corneal opacity Skin rash Hyperkeratosis Glaucoma Hyperhidrosis Abnormality of cardiovascular system morphology Aplasia/Hypoplasia of the fallopian tube Aplasia of the vagina Facial hirsutism Increased serum testosterone level Abnormal vagina morphology Homonymous hemianopia Synophrys Abnormality of acid-base homeostasis Episodic quadriplegia Bilateral intracranial calcifications Morphological abnormality of the vestibule of the inner ear Morphological abnormality of the inner ear Prominent ear helix Thick eyebrow Aplasia of the uterus Cubitus valgus Acne Unilateral renal agenesis High anterior hairline Abnormality of the ovary Shield chest Dysmetria Anorectal anomaly Carious teeth Foot oligodactyly Myocardial infarction Fine hair Abnormality of extrapyramidal motor function Dehydration Decreased testicular size Triangular face Abnormality of movement Hypotrichosis Sparse hair High forehead Babinski sign Synostosis of joints Bilateral renal hypoplasia Absent fingernail Choreoathetosis Absent toenail Synostosis of carpal bones Oligodactyly Abnormality of digit Absent thumb Mixed hearing impairment Hypoplasia of the ulna Ectropion Elbow dislocation Radioulnar synostosis Systemic lupus erythematosus Deep philtrum Hypoplasia of the radius Sparse scalp hair Hyperlipidemia Abnormality of the metacarpal bones Progressive alopecia Posteriorly rotated ears Severe short stature Pneumonia Abnormal heart morphology Patent ductus arteriosus Clinodactyly Hypospadias Recurrent infections Abnormality of the skeletal system Myopia Wide nasal bridge Epicanthus Cryptorchidism Hypoplasia of the fallopian tube Premature ovarian insufficiency Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Increased thyroid-stimulating hormone level Abnormal spermatogenesis Abnormal T-wave Decreased serum estradiol Decreased serum testosterone level Anodontia Insulin-resistant diabetes mellitus Aplasia/Hypoplasia of the eyebrow Flat occiput Sparse eyebrow Laryngomalacia Renal hypoplasia/aplasia Pes planus Tetraparesis Progressive spasticity Opisthotonus Global brain atrophy Postural tremor CNS hypomyelination Spastic tetraparesis Spastic paraparesis Paraparesis Horizontal nystagmus Sensorimotor neuropathy Leukodystrophy Progressive muscle weakness Frequent falls Optic disc pallor Hyperactive deep tendon reflexes Peripheral demyelination Brain atrophy Neurodegeneration Falls Abnormality of the cerebral white matter Pallor Irritability Muscular hypotonia of the trunk Rigidity Reduced visual acuity Pes cavus Behavioral abnormality Hydrocephalus Ankle clonus Episodic fever Abnormality of dental enamel Retrognathia Narrow palate Hemivertebrae Short thumb Abnormality of the genital system Abnormal form of the vertebral bodies Renal hypoplasia Abnormality of the ribs High, narrow palate Micromelia Toe syndactyly Hip dislocation Finger syndactyly Deeply set eye Proptosis Increased CSF protein Prominent forehead Malar flattening Short nose Depressed nasal bridge Abnormal flash visual evoked potentials Unexplained fevers Decerebrate rigidity CNS demyelination Aplasia/Hypoplasia of the abdominal wall musculature Cloverleaf skull Demyelinating peripheral neuropathy Abnormality of the thumb Motor deterioration Diffuse cerebral atrophy Macrotia Hypoglycemia Ophthalmoplegia Pilonidal sinus Cerebellar atrophy Myopathy Cardiomyopathy Respiratory insufficiency Fatigue Hepatomegaly Hypertension Motor delay Pain Congenital mitral stenosis Anoperineal fistula Nocturnal lagophthalmos Vertical orbital dystopia Short nasal septum Headache Eversion of lateral third of lower eyelids Premature thelarche Prominent eyelashes Liver abscess Sclerosing cholangitis Single ventricle Common atrium Vertebral clefting Epibulbar dermoid Abnormality of the middle ear Recurrent aspiration pneumonia Prominent fingertip pads Biliary atresia Congestive heart failure Cerebral atrophy Diaphragmatic eventration Acidosis Lethargy Generalized tonic-clonic seizures Dilated cardiomyopathy Neurological speech impairment Stroke Nyctalopia Abnormality of the liver Apnea Hypertrophic cardiomyopathy Proteinuria Myalgia Photophobia Gastroesophageal reflux Dyspnea Encephalopathy Autism Gait ataxia Cerebral cortical atrophy Abdominal pain Osteoporosis Myoclonus Dementia Rod-cone dystrophy Cerebellar hypoplasia Constipation Delayed skeletal maturation Elevated serum creatine phosphokinase Areflexia Arrhythmia Bronchomalacia Ureteropelvic junction obstruction Hydronephrosis Growth hormone deficiency Increased body weight Sparse and thin eyebrow Abnormal vertebral morphology Cafe-au-lait spot Long eyelashes Renal dysplasia Heterotopia Recurrent otitis media Small nail Blue sclerae Coarctation of aorta Microdontia Otitis media Decreased antibody level in blood Hyperbilirubinemia Intestinal malrotation Single transverse palmar crease Highly arched eyebrow Hemolytic anemia Wide nose Joint hypermobility Astigmatism Paralysis Postnatal growth retardation Abnormality of the kidney Intellectual disability, moderate Joint laxity Horseshoe kidney Abnormality of the urinary system Recurrent ear infections Anal stenosis Anterior plagiocephaly Trichorrhexis nodosa Broad philtrum Small face Cholangitis Optic nerve coloboma Mitral stenosis Retinal coloboma Short 5th finger Depressed nasal tip Short columella Patellar dislocation Overweight IgA deficiency Poor suck Autoimmune hemolytic anemia Cerebellar vermis atrophy Transposition of the great arteries Severe hearing impairment Long palpebral fissure Celiac disease Right bundle branch block Hydroureter Preauricular pit Bilateral cryptorchidism Cupped ear Precocious puberty Brittle hair Failure to thrive in infancy Pulmonary artery hypoplasia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Apraxia, related diseases and genetic alterations Macrocephaly and Sleep disturbance, related diseases and genetic alterations Tremor and Finger syndactyly, related diseases and genetic alterations Cardiomyopathy and Arthritis, related diseases and genetic alterations Hypertension and Bifid uvula, related diseases and genetic alterations Ataxia and Optic disc pallor, related diseases and genetic alterations

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