Ataxia, and Abnormal blistering of the skin

Diseases related with Ataxia and Abnormal blistering of the skin

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


Top matches:

Low match HARTNUP DISEASE


Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type|hartnup disease|hartnup disorder

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HARTNUP DISEASE

Low 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

Low match DYSKERATOSIS CONGENITA


Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

DYSKERATOSIS CONGENITA Is also known as dkc|dc|dyskeratosis congenita, scoggins type|zinsser-engman-cole syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA

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Other less relevant matches:

Low match BEHÇET DISEASE


Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BEHÇET DISEASE

Low match PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1


Erythropoietic protoporphyria-1 is an inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase, the terminal enzyme of the heme biosynthetic pathway, which catalyzes the insertion of iron into protoporphyrin to form heme. EPP is characterized clinically by photosensitivity to visible light commencing in childhood, and biochemically by elevated red cell protoporphyrin levels (Todd, 1994). Genetic Heterogeneity of Erythropoietic ProtoporphyriaAlso see X-linked erythropoietic protoporphyria (XLEPP ), caused by mutation in the ALAS2 gene (OMIM ) on chromosome Xp11, and EPP2 (OMIM ), caused by mutation in the CLPX gene (OMIM ) on chromosome 15q22.

PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1 Is also known as ferrochelatase deficiency|protoporphyria, erythropoietic|heme synthetase deficiency|erythrohepatic protoporphyria|epp

Related symptoms:

  • Pain
  • Anemia
  • Edema
  • Thrombocytopenia
  • Jaundice


SOURCES: OMIM MENDELIAN

More info about PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1

Low match PORPHYRIA CUTANEA TARDA


Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine (Elder et al., 1980).De Verneuil et al. (1978) and others classified porphyria cutanea tarda, the most common type of porphyria, into 2 types: type I (OMIM ), or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type, characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980).PCT type II is an autosomal dominant disorder with low penetrance and constitutes about 20% of cases of PCT. Recognized exacerbating factors of PCT include iron overload, excessive use of alcohol, exposure to polyhalogenated aromatic chemicals, exposure to estrogens, chronic viral hepatitis C, HIV infections, and mutation in the HFE gene (OMIM ) that are responsible for hereditary hemochromatosis (OMIM ) (review by Lambrecht et al., 2007).

PORPHYRIA CUTANEA TARDA Is also known as uroporphyrinogen decarboxylase deficiency|pct|pct, type ii|pct, 'familial' type|urod deficiency|porphyria cutanea tarda, type ii|porphyria, hepatocutaneous type

Related symptoms:

  • Anemia
  • Edema
  • Alopecia
  • Carcinoma
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORPHYRIA CUTANEA TARDA

Low match FOCAL FACIAL DERMAL DYSPLASIA TYPE IV


Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.

FOCAL FACIAL DERMAL DYSPLASIA TYPE IV Is also known as ffdd type iv|focal facial dermal dysplasia 4|focal facial preauricular dysplasia|ffdd4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Hydrocephalus
  • Cleft lip
  • Sparse hair


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA TYPE IV

Low match PEELING SKIN SYNDROME 2; PSS2


Peeling skin syndrome (PSS) is an autosomal recessive genodermatosis characterized by the shedding of the outer epidermis. In an acral form of the disorder (PSS2), the dorsa of the hands and feet are predominantly affected, and ultrastructural analysis shows separation at the junction between the granular cells and the stratum corneum in the outer epidermis (summary by Cassidy et al., 2005).For a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (OMIM ).

PEELING SKIN SYNDROME 2; PSS2 Is also known as acral peeling skin syndrome|peeling skin syndrome, acral type|apss

Related symptoms:

  • Hyperhidrosis
  • Erythema
  • Scarring
  • Pruritus
  • Abnormal blistering of the skin


SOURCES: OMIM MENDELIAN

More info about PEELING SKIN SYNDROME 2; PSS2

Low match HEREDITARY COPROPORPHYRIA


Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.

HEREDITARY COPROPORPHYRIA Is also known as cpox deficiency|cpx deficiency|coproporphyrinogen oxidase deficiency|cpo deficiency

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Anemia
  • Hypertension


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY COPROPORPHYRIA

Low match PORPHYRIA VARIEGATA


Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.

PORPHYRIA VARIEGATA Is also known as variegate porphyria|ppox deficiency|porphyria, south african type|protoporphyrinogen oxidase deficiency|vp

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA VARIEGATA

Top 5 symptoms//phenotypes associated to Ataxia and Abnormal blistering of the skin

Symptoms // Phenotype % cases
Cutaneous photosensitivity Uncommon - Between 30% and 50% cases
Erythema Uncommon - Between 30% and 50% cases
Scarring Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Abnormal blistering of the skin. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Alopecia Splenomegaly Hypopigmented skin patches Inflammatory abnormality of the skin Confusion Malabsorption Anemia Pain Short stature Abdominal pain Insomnia Paresthesia Hallucinations Fever Nausea and vomiting Psychosis Fragile skin Irritability Thin skin Cirrhosis Neoplasm Hypertrichosis Hemolytic anemia Pruritus Anxiety Photophobia Skin vesicle Depressivity Hepatomegaly

Rare Symptoms - Less than 30% cases


Nail dystrophy Microcephaly Ridged nail Abnormal eyebrow morphology Hemiparesis Blepharitis Vomiting Muscle weakness Peripheral neuropathy Constipation Pustule Anorexia Skin ulcer Hypertension Growth delay Hepatic failure Cataract Dermal atrophy Edema Jaundice Abnormality of the liver Behavioral abnormality Aseptic necrosis Hypermelanotic macule Epiphora Arthralgia Thrombocytopenia Carcinoma Myalgia Hepatocellular carcinoma Carious teeth Sparse hair Porphyrinuria Hyperhidrosis Hyperpigmentation of the skin Intellectual disability Weight loss Glossitis Hyperreflexia Chronic diarrhea Migraine Hepatic steatosis Vertigo Emotional lability Skin rash Visual hallucinations Nystagmus Encephalitis Tremor Tachycardia Paralysis Global developmental delay Nausea Hydrocephalus Gait disturbance Headache Pleuritis Tetraplegia Thrombophlebitis Erythema nodosum Iridocyclitis Immunologic hypersensitivity Chorioretinitis Optic neuritis Anterior uveitis Posterior uveitis Retrobulbar optic neuritis Increased inflammatory response Iritis Hypopyon Orchitis Superficial thrombophlebitis Falls Genital ulcers Epididymitis Decreased level of D-mannose in urine Aspiration Panuveitis Alopecia areata Oral ulcer Motor polyneuropathy Cranial nerve paralysis Venous thrombosis Increased intracranial pressure Pleural effusion Rheumatoid arthritis Acne Inflammation of the large intestine Dark urine Blurred vision Glomerulopathy Keratoconjunctivitis sicca Pericarditis Hemoptysis Pulmonary embolism Uveitis Endocarditis Abnormal myocardium morphology Chronic kidney disease Eczema Stomatitis Agitation Recurrent aphthous stomatitis Arterial thrombosis Milia Pulmonary infiltrates Cerebral ischemia Myositis Raynaud phenomenon Restlessness Neoplasm of the liver Gangrene Polyneuropathy Cholelithiasis Hypopigmentation of the skin Fragmented elastic fibers in the dermis Pancreatitis Congenital hemolytic anemia Delirium Paranoia Short chin Auditory hallucinations Cutis laxa Hemangioma Intracranial hemorrhage Cupped ear Aplasia cutis congenita Unilateral cleft lip Abnormality of the cheek Abnormal mast cell morphology Nevus Abnormality of buccal mucosa Ileus Abnormality of epidermal morphology Scaling skin Prolonged neonatal jaundice Orthostatic hypotension Hyponatremia Hypotension Metabolic acidosis Abnormality of metabolism/homeostasis Arrhythmia Areflexia Acidosis Elevated hepatic transaminase Focal-onset seizure Cleft upper lip Tetraparesis Cerebral palsy Hypertriglyceridemia Abnormality of the kidney Cholestasis Decreased liver function Hepatosplenomegaly Clinodactyly Microcytic anemia Acute hepatic failure Cholecystitis Abnormality of the skeletal system Sudden cardiac death Hepatitis Generalized hirsutism Acute episodes of neuropathic symptoms Compensated hemolytic anemia Scleroderma Atypical scarring of skin Onycholysis Anemia of inadequate production Alcoholism Red urine Congenital hypoplastic anemia Abdominal colic Facial hypertrichosis Respiratory paralysis Viral hepatitis Hyperpigmentation in sun-exposed areas Cleft palate Cleft lip Aortic regurgitation Absent lacrimal punctum Vasculitis Corneal erosion Paronychia Ridged fingernail Decreased testosterone in males Impaired T cell function Cheilitis Furrowed tongue Alopecia of scalp Recurrent candida infections Poor appetite Steatorrhea Psoriasiform dermatitis Conjunctivitis Decreased testicular size Dry skin Decreased taste sensation Low alkaline phosphatase Lethargy Osteoporosis Recurrent fractures Palmoplantar keratoderma Abnormality of skin pigmentation Leukemia Hyperkeratosis Diabetes mellitus Recurrent respiratory infections Increased serum zinc Cerebellar hypoplasia Immunodeficiency Abnormality of the dentition Intrauterine growth retardation Scoliosis Hearing impairment Hypotrichosis Cerebral cortical atrophy Hypoplasia of the maxilla Hypertonia Aciduria Unsteady gait Abnormality of the eye EEG abnormality Gastroesophageal reflux Gait ataxia Dysarthria Aminoaciduria Cognitive impairment Ptosis Spasticity Muscular hypotonia Strabismus Generalized hypotonia Diplopia Abnormality of vision Hypogonadism Neural tube defect Visual impairment Failure to thrive Neutral hyperaminoaciduria Grasp reflex Glabellar reflex Hyperphenylalaninemia Mood changes Irregular hyperpigmentation Abnormal urinary color Methylmalonic aciduria Episodic ataxia Bruxism Gingivitis Delusions Hypodontia Lymphoma Meningitis Esophageal stenosis Glaucoma Visual loss Dilatation Renal insufficiency Blindness Fatigue Palmar hyperkeratosis Dyspnea Displacement of the external urethral meatus Congenital bullous ichthyosiform erythroderma Anorectal anomaly Reticular hyperpigmentation Nail pits Rough bone trabeculation Reduced visual acuity Arthritis Aplastic/hypoplastic toenail Lymphadenopathy Subcutaneous nodule Mitral regurgitation Myocardial infarction Memory impairment Gastrointestinal hemorrhage Chest pain Papule Developmental regression Cough Stroke Abnormal pyramidal sign Autoimmunity Retinopathy Joint stiffness Porokeratosis Interstitial pneumonitis Nail dysplasia Abnormal intestine morphology Abnormality of coagulation Premature graying of hair Pulmonary fibrosis Tracheoesophageal fistula Myelodysplasia Neoplasm of the skin Abnormality of the fingernails Macule Bone marrow hypocellularity Lymphopenia Hepatic fibrosis Pancytopenia Cerebral calcification Specific learning disability Neurofibromas Aplasia/Hypoplasia of the skin Abnormality of neutrophils Aplastic anemia Urethral stenosis Squamous cell carcinoma of the skin Abnormality of the pharynx Testicular atrophy Cellular immunodeficiency Abnormality of female internal genitalia Oral leukoplakia Telangiectasia of the skin Abnormality of the testis White hair Periodontitis Taurodontia Neoplasm of the pancreas Abnormal eyelash morphology Premature loss of teeth Premature adrenarche



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