Ataxia, and Psoriasiform dermatitis

Diseases related with Ataxia and Psoriasiform dermatitis

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


Top matches:

Medium match SPINOCEREBELLAR ATAXIA TYPE 42


Spinocerebellar ataxia type 42 is a rare, autosomal dominant cerebellar ataxia characterized by pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural tremor.

SPINOCEREBELLAR ATAXIA TYPE 42 Is also known as sca42

Related symptoms:

  • Seizures
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 42

Medium match ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ


Related symptoms:

  • Short stature
  • Ataxia
  • Failure to thrive
  • Visual impairment
  • Hepatomegaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ

Medium match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

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Other less relevant matches:

Low match IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10


Common variable immunodeficiency-10 is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by Chen et al., 2013).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10 Is also known as deficit in anterior pituitary function and variable immunodeficiency|david|immunodeficiency, common variable, with central adrenal insufficiency

Related symptoms:

  • Global developmental delay
  • Spasticity
  • Gait disturbance
  • Dysphagia
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10

Low match IMMUNODEFICIENCY 49; IMD49


IMMUNODEFICIENCY 49; IMD49 Is also known as severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities|scid, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spastici

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 49; IMD49

Low match BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION


Related symptoms:

  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Hepatomegaly
  • Ventricular septal defect


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

Low match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Low match PUSTULOSIS PALMARIS ET PLANTARIS


PUSTULOSIS PALMARIS ET PLANTARIS Is also known as localized pustular psoriasis|lpp|ppp|palmoplantar pustulosis

Related symptoms:

  • Pain
  • Pruritus
  • Psoriasiform dermatitis
  • Pustule


SOURCES: ORPHANET MENDELIAN

More info about PUSTULOSIS PALMARIS ET PLANTARIS

Low match PEELING SKIN SYNDROME 5; PSS5


Peeling skin syndrome-5 (PSS5) is characterized by superficial peeling of the dorsal and palmar skin of the hands and feet; the skin of the forearms and legs may also be involved. Some patients exhibit diffuse yellowish hyperkeratotic palmoplantar plaques (Pigors et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (OMIM ).

Related symptoms:

  • Hyperkeratosis
  • Erythema
  • Ichthyosis
  • Epidermal acanthosis
  • Scaling skin


SOURCES: OMIM MENDELIAN

More info about PEELING SKIN SYNDROME 5; PSS5

Top 5 symptoms//phenotypes associated to Ataxia and Psoriasiform dermatitis

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Umbilical hernia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Autoimmune thrombocytopenia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Psoriasiform dermatitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Purpura Abnormal facial shape Nail dystrophy Inguinal hernia Inflammatory abnormality of the skin Posteriorly rotated ears Patent ductus arteriosus Recurrent infections Impaired T cell function Ventricular septal defect Intellectual disability Vitiligo Short stature Cleft palate Cognitive impairment Strabismus

Rare Symptoms - Less than 30% cases


Hypothyroidism Hypospadias Micrognathia Abnormal heart morphology Hypertelorism Hypoglycemia Retrognathia Sacral meningocele Hernia Right aortic arch with mirror image branching Arthritis Abnormality of the pinna Blepharophimosis Autoimmunity Arteria lusoria Obesity Absent speech Thrombocytopenia Short neck Abnormality of the kidney Short palpebral fissure Anemia High palate Delayed speech and language development Fever Hypoplasia of the corpus callosum Hemolytic anemia Hydrocephalus Short philtrum Atrial septal defect Behavioral abnormality Narrow mouth Abnormality of cardiovascular system morphology Bulbous nose Interrupted aortic arch Graves disease Right aortic arch Inflammation of the large intestine Myopathic facies Autoimmune hemolytic anemia Duodenal stenosis Posterior embryotoxon Bipolar affective disorder Hypoparathyroidism Unilateral renal agenesis Meningocele Perimembranous ventricular septal defect Truncus arteriosus Myelomeningocele Juvenile rheumatoid arthritis Seborrheic dermatitis Aplasia of the uterus Acne Rheumatoid arthritis Chorea Renal dysplasia Renal agenesis Specific learning disability Amenorrhea Tetralogy of Fallot Low posterior hairline Primary amenorrhea Spina bifida Retinal vascular tortuosity Aplasia of the thymus Hypocalcemia Conotruncal defect Bicuspid aortic valve Arnold-Chiari malformation Schizophrenia Nasal speech Bifid uvula Cholelithiasis Microcephaly Pustule Hearing impairment Depressivity Tremor Dementia Spasticity Dysphagia Hepatomegaly Splenomegaly Alopecia Erythema Cerebellar atrophy Generalized hypotonia Vascular tortuosity Severe combined immunodeficiency Tetraplegia Prominent nose Narrow forehead Spastic tetraplegia Nystagmus Lymphopenia Wormian bones Leukopenia Eosinophilia Natal tooth Cryptorchidism Pulmonary artery stenosis Severe global developmental delay Polydactyly Coarse facial features Pain Apnea Renal cyst Macroglossia Premature birth Overgrowth Omphalocele Abnormality of the face Hirsutism Hyperreflexia Pruritus Meningitis Unilateral primary pulmonary dysgenesis Gait disturbance Recurrent respiratory infections Epidermal acanthosis Ichthyosis Asthma Hyperkeratosis Decreased antibody level in blood Growth hormone deficiency Bronchiectasis Sinusitis Adrenal insufficiency Large for gestational age Chronic sinusitis Alopecia totalis Adrenocorticotropic hormone deficiency Alopecia areata Central adrenal insufficiency Trachyonychia Skeletal muscle atrophy Dysarthria Abnormality of the dentition Agenesis of corpus callosum Upslanted palpebral fissure Abnormality of the outer ear Supernumerary nipple Abnormality of the thymus Coarctation of aorta Hydronephrosis Telecanthus Cleft lip Craniosynostosis Attention deficit hyperactivity disorder Microtia Generalized tonic-clonic seizures Astigmatism Polymicrogyria Iris coloboma High, narrow palate Broad thumb Hypertonia Amblyopia Exotropia Sclerocornea Tetany Anterior segment developmental abnormality Esophoria Hypoplasia of the thymus Femoral hernia Alcoholism Perisylvian polymicrogyria Abnormality of the middle ear Microphthalmia Flexion contracture Neuroblastoma Abnormality of earlobe Syringomyelia Central hypotonia Nevus flammeus Enlarged kidney Neonatal hypoglycemia Type I truncus arteriosus Skin tags Diastasis recti Hemihypertrophy Visceromegaly Parathyroid agenesis Tethered cord Low-set ears Parathyroid hypoplasia Abdominal wall defect Decreased circulating parathyroid hormone level Anterior creases of earlobe Embryonal neoplasm Prune belly Auricular pit Postauricular pit Neoplasm Ptosis Accommodative esotropia Abnormality of the vasculature Central nervous system degeneration Unilateral lung agenesis Irritability Dry skin Anxiety Aggressive behavior Mental deterioration Malabsorption Hypotrichosis Lethargy Congenital cataract Pulmonic stenosis Anal atresia Dysmetria Photophobia Decreased testicular size Weight loss Vesicoureteral reflux Underdeveloped nasal alae Cerebral cortical atrophy Hypogonadism Peripheral demyelination Psychosis Diarrhea Open mouth Visual impairment Hallucinations Failure to thrive Conductive hearing impairment Abnormal blistering of the skin Multicystic kidney dysplasia Intellectual disability, severe Muscular hypotonia Cataract Increased serum zinc Low alkaline phosphatase Recurrent candida infections Decreased taste sensation Paronychia Ridged fingernail Glossitis Decreased testosterone in males Cheilitis Ridged nail Chronic diarrhea Furrowed tongue Corneal erosion Abnormal eyebrow morphology Blepharitis Alopecia of scalp Poor appetite Steatorrhea Emotional lability Conjunctivitis Skin ulcer Anorexia Hyperactivity Eyelid myokymia Narrow palpebral fissure Congenital conductive hearing impairment Abnormal cerebellum morphology Delusions Pierre-Robin sequence Horizontal nystagmus Diplopia Echolalia Abnormality of the endocrine system Pulmonary artery atresia Spastic gait Involuntary movements Urinary incontinence Parkinsonism Vertigo Hearing abnormality Platybasia Mood swings Unsteady gait Abnormal pyramidal sign Paranoia Gait ataxia Giant platelets Velopharyngeal insufficiency Psychotic episodes Babinski sign Vascular ring Perineal fistula Alzheimer disease Impotence Reduced brain N-acetyl aspartate level by MRS Gaze-evoked horizontal nystagmus Holoprosencephaly Loss of Purkinje cells in the cerebellar vermis Neurodevelopmental abnormality Upper limb postural tremor Abnormality of the hand Hyperintensity of cerebral white matter on MRI Impaired vibration sensation at ankles Dysdiadochokinesis Impaired distal vibration sensation Apathy Obsessive-compulsive behavior Hypometric saccades Urinary urgency Hypoplasia of the brainstem Saccadic smooth pursuit Spastic ataxia Abnormality of the ear Basal ganglia calcification Head tremor Axonal loss Submucous cleft hard palate Atrophy/Degeneration affecting the brainstem Anal stenosis Cerebellar vermis atrophy Resting tremor Scaling skin



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