Immunodeficiency, and Dystonia

Diseases related with Immunodeficiency and Dystonia

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

Top matches:

Ataxia-oculomotor apraxia syndrome is an early-onset autosomal recessive cerebellar ataxia with peripheral axonal neuropathy, oculomotor apraxia (defined as the limitation of ocular movements on command), and hypoalbuminemia (Moreira et al., 2001). Genetic Heterogeneity of Ataxia-Oculomotor ApraxiaSee also AOA2 (OMIM ), caused by mutation in the SETX gene (OMIM ) on chromosome 9q34; AOA3 (OMIM ), caused by mutation in the PIK3R5 gene (OMIM ) on chromosome 17p; and AOA4 (OMIM ), caused by mutation in the PNKP gene (OMIM ) on chromosome 19q13.

ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH Is also known as eoca-ha|aoa|ataxia-oculomotor apraxia syndrome|ataxia-oculomotor apraxia 1|aoa1|cerebellar ataxia, early-onset, with hypoalbuminemia|ataxia-telangiectasia-like syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH

Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar ataxia (ARCA; see this term), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.

ATAXIA-OCULOMOTOR APRAXIA TYPE 1 Is also known as aoa1|atld

Related symptoms:

  • Ataxia
  • Nystagmus
  • Neoplasm
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATAXIA-OCULOMOTOR APRAXIA TYPE 1

Other less relevant matches:

Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.

ALTERNATING HEMIPLEGIA OF CHILDHOOD Is also known as ahc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD

Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT- Is also known as vitamin b12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-coa mutase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

Hermansky-Pudlak syndrome-10 is an autosomal recessive multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures (summary by Ammann et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 10; HPS10

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on chromosome 4q31, and cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).See the comprehensive review of Ledley (1990).

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency|methylmalonic aciduria, mut type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY

Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.

PROPIONIC ACIDEMIA Is also known as glycinemia, ketotic|ketotic hyperglycinemia|propionyl-coa carboxylase deficiency|propionic aciduria|pcc deficiency|hyperglycinemia with ketoacidosis and leukopenia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROPIONIC ACIDEMIA

Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

Top 5 symptoms//phenotypes associated to Immunodeficiency and Dystonia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Immunodeficiency and Dystonia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Recurrent infections

Uncommon Symptoms - Between 30% and 50% cases

Hepatomegaly Anemia Choreoathetosis Failure to thrive Chorea Thrombocytopenia Mental deterioration Neutropenia Generalized hypotonia Cerebellar atrophy Tremor Dysarthria Peripheral neuropathy Pancytopenia Hyperammonemia Short stature Pancreatitis Dehydration Coma Recurrent respiratory infections Feeding difficulties Abnormality of movement Lethargy Stroke Splenomegaly Cardiomyopathy Neoplasm Gait disturbance Renal insufficiency Decreased antibody level in blood Developmental regression Respiratory distress Fever Optic atrophy Apraxia Areflexia Distal amyotrophy Telangiectasia Oculomotor apraxia Gait ataxia Hyporeflexia Cognitive impairment Scoliosis Progressive cerebellar ataxia

Rare Symptoms - Less than 30% cases

Parkinsonism Slurred speech Skeletal muscle atrophy Hypopigmentation of hair Resting tremor Generalized tonic-clonic seizures Spinocerebellar tract degeneration Muscular hypotonia Lymphoma Leukemia Abnormality of eye movement Difficulty walking Fatigue Abnormality of the eye Acidosis Strabismus Ischemic stroke Vomiting Albinism Aciduria Leukopenia Abnormal bleeding Muscular hypotonia of the trunk Hepatosplenomegaly Pneumonia Neurological speech impairment Cerebral atrophy Microcephaly Ketonuria Organic aciduria Methylmalonic aciduria Hyperglycinemia Cerebellar hemorrhage Nausea and vomiting Diabetes mellitus Metabolic acidosis Increased sensitivity to ionizing radiation Myoclonus Sensory neuropathy Distal muscle weakness Limb ataxia Pes cavus Truncal ataxia Muscle weakness Sensory axonal neuropathy Gaze-evoked nystagmus Hypometric saccades Hearing impairment Sensorineural hearing impairment Dysphagia Neurodegeneration Peripheral axonal neuropathy Abnormality of the nervous system Abnormal cerebellum morphology Hemophagocytosis Generalized hyperpigmentation Immunoglobulin IgG2 deficiency Gingival bleeding Progressive spinal muscular atrophy Iris hypopigmentation Gingivitis Periodontitis Fair hair Generalized hypopigmentation White hair Non-Hodgkin lymphoma Progressive peripheral neuropathy Cerebral hemorrhage Hypersplenism Mucosal telangiectasiae Partial albinism Macular hypoplasia Aplasia/Hypoplasia of the thymus Recurrent bacterial skin infections Oculogyric crisis Hypofibrinogenemia Abnormal leukocyte morphology Recurrent cutaneous abscess formation Female hypogonadism Giant melanosomes in melanocytes Dementia Decreased/absent ankle reflexes Recurrent systemic pyogenic infections Interosseus muscle atrophy Photophobia Rigidity IgE deficiency Ophthalmoplegia Spastic paraplegia Paraplegia Paresthesia Lymphadenopathy Falls Bruising susceptibility Hypopigmentation of the skin Brain atrophy Gastrointestinal hemorrhage Melanocytic nevus Peripheral demyelination Bradykinesia Abnormality of extrapyramidal motor function Epistaxis Cutaneous photosensitivity Hypertriglyceridemia Amblyopia Hyperpigmentation of the skin Skin ulcer Foot dorsiflexor weakness Cranial nerve paralysis Abnormality of vision Decreased nerve conduction velocity Abnormality of multiple cell lineages in the bone marrow Spasticity Generalized hypopigmentation of hair Chromosome breakage Aplasia/Hypoplasia of the skin Multiple cafe-au-lait spots Telangiectasia of the skin Abnormality of the immune system Myeloid leukemia Prematurely aged appearance IgA deficiency Hodgkin lymphoma Hepatocellular carcinoma Acute lymphoblastic leukemia Severe combined immunodeficiency Recurrent lower respiratory tract infections Recurrent bronchitis Elevated alpha-fetoprotein Renal neoplasm B-cell lymphoma Abnormality of the testis Abnormal spermatogenesis Lymphoproliferative disorder Absent Achilles reflex Hypoplasia of the thymus Chronic lymphatic leukemia Cellular immunodeficiency Abnormality of chromosome stability Conjunctival telangiectasia Chronic myelogenous leukemia Premature graying of hair Combined immunodeficiency Neoplasm of the breast Type II diabetes mellitus Flexion contracture Elevated hepatic transaminase Carcinoma Anxiety Respiratory tract infection Chronic hepatitis Abnormality of the liver Jaundice Unsteady gait Polyneuropathy Decreased proportion of CD4-positive T cells Hepatitis Intention tremor Glucose intolerance Bronchiectasis Cafe-au-lait spot Sinusitis Abnormal vertebral morphology Lymphopenia Abnormality of the hair Recurrent pneumonia Reduced tendon reflexes Cerebral palsy Breast carcinoma Polycystic ovaries Spinal muscular atrophy Athetosis Delayed puberty Intolerance to protein Reduced visual acuity Small for gestational age Episodic hemiplegia Externally rotated hips Achalasia Bulbar signs Hypoplastic scapulae Mild global developmental delay Generalized dystonia Macroglossia Abdominal pain Cleft upper lip Oral cleft Micromelia Cleft lip Bronchospasm Kyphoscoliosis High forehead Anorexia Kyphosis Intellectual disability, mild Blindness Abnormality of the skeletal system Low-set ears Cataract Cleft palate Macrotia Retrognathia EEG abnormality Episodic quadriplegia Abnormality of the mitochondrion Smooth philtrum Migraine Impaired smooth pursuit Pain Nephronophthisis Dysdiadochokinesis Lower limb spasticity Headache Hyperhidrosis Dyspnea Frequent falls Cerebellar vermis hypoplasia Paralysis Dysmetria Tetraplegia Esotropia Facial paralysis Status epilepticus Hemiparesis Involuntary movements Exotropia Bradycardia Muscle stiffness Abnormal autonomic nervous system physiology Hemiplegia Stridor Impulsivity Oral-pharyngeal dysphagia Anhidrosis Wheezing Hypertelorism Generalized myoclonic seizures Atrial septal defect Abnormality of immune system physiology Metabolic ketoacidosis Encephalopathy Arrhythmia Constipation Osteoporosis Hypoglycemia Apnea Feeding difficulties in infancy Lactic acidosis Overgrowth Eczema Tachypnea Poor appetite Abnormal globus pallidus morphology Limb hypertonia Ketosis Ketoacidosis Episodic vomiting Acute encephalopathy Hyperglycinuria Increased level of hippuric acid in urine Propionyl-CoA carboxylase deficiency Medial flaring of the eyebrow Propionicacidemia Visual impairment Distal sensory impairment Edema Chronic metabolic acidosis Tubulointerstitial abnormality Delayed myelination Nephropathy Hypotelorism Limb fasciculations Interstitial pulmonary abnormality Arachnoid cyst Pierre-Robin sequence Ocular albinism Peripheral axonal degeneration Respiratory insufficiency Facial grimacing Decreased number of large peripheral myelinated nerve fibers Abnormality of the kidney Progressive external ophthalmoplegia Stage 5 chronic kidney disease Postural instability Methylmalonic acidemia Axonal degeneration Tetraparesis Paraparesis Spastic tetraparesis Impaired vibratory sensation Hypoalbuminemia Macrocytic anemia Tubulointerstitial nephritis External ophthalmoplegia Delayed CNS myelination Hypercholesterolemia Homocystinuria Fasciculations Defective B cell differentiation


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