Immunodeficiency, and Apraxia

Diseases related with Immunodeficiency and Apraxia

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

Top matches:

Pilarowski-Bjornsson syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability, often with autistic features, speech apraxia, and mild dysmorphic features. Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2017).

PILAROWSKI-BJORNSSON SYNDROME; PILBOS Is also known as developmental delay and speech apraxia with or without seizures

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PILAROWSKI-BJORNSSON SYNDROME; PILBOS

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

Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.

SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 1 Is also known as scan1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Neoplasm


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 1

Other less relevant matches:

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

Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenital

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME

Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.

DISTAL 22Q11.2 MICRODELETION SYNDROME Is also known as distal del(22)(q11.2)|distal monosomy 22q11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about DISTAL 22Q11.2 MICRODELETION 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

In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

CAYLER CARDIOFACIAL SYNDROME Is also known as depressor anguli oris muscle, hypoplasia of|facial paresis, partial, unilateral|asymmetric crying facies|acf

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CAYLER CARDIOFACIAL SYNDROME

Related symptoms:

  • Seizures
  • Immunodeficiency
  • Recurrent infections
  • Respiratory tract infection
  • Decreased antibody level in blood


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 37; IMD37

Top 5 symptoms//phenotypes associated to Immunodeficiency and Apraxia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Oculomotor apraxia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Dysarthria Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Recurrent infections Short stature Peripheral neuropathy Progressive cerebellar ataxia Global developmental delay Cerebellar atrophy Nystagmus Ataxia Distal amyotrophy Growth delay Gait disturbance Tremor Telangiectasia Gait ataxia Microcephaly Gaze-evoked nystagmus Chorea Sensory axonal neuropathy Prominent nasal bridge Long face Attention deficit hyperactivity disorder Deeply set eye Recurrent respiratory infections Inguinal hernia Decreased antibody level in blood Intrauterine growth retardation Sensorineural hearing impairment Failure to thrive Anemia Sensory neuropathy Respiratory tract infection Scoliosis Cognitive impairment Lymphopenia Pointed chin Pes cavus Dystonia

Rare Symptoms - Less than 30% cases

Malar flattening Depressivity Clinodactyly of the 5th finger Polyneuropathy Narrow mouth Diabetes mellitus Pes planus Thin upper lip vermilion Flexion contracture Hyperlordosis Atrial septal defect Ulnar deviation of finger Blepharophimosis Slurred speech Cleft palate Combined immunodeficiency Hearing impairment Myeloid leukemia Abnormal facial shape Hernia Renal hypoplasia Leukopenia Bone marrow hypocellularity Pancytopenia Leukemia Small for gestational age Ventricular septal defect Toe syndactyly Strabismus Absent fingernail Truncus arteriosus Tics Ankyloglossia Obsessive-compulsive behavior Abnormality of earlobe Language impairment Aortic aneurysm Pyloric stenosis Aortic regurgitation Elevated hepatic transaminase Coxa valga Absent toenail Bowing of the long bones Bowel incontinence Choanal atresia Underdeveloped nasal alae Premature birth Highly arched eyebrow High, narrow palate Short distal phalanx of finger Short palm Branchial fistula Arachnodactyly Smooth philtrum Joint hyperflexibility Facial asymmetry Sandal gap Recurrent urinary tract infections Skeletal muscle atrophy Myoclonus Muscle weakness Areflexia Hyporeflexia Distal muscle weakness Increased sensitivity to ionizing radiation Peripheral axonal neuropathy Dysdiadochokinesis Choreoathetosis Postnatal growth retardation Generalized hypotonia Abnormal cerebellum morphology Limb ataxia Dysmetria Truncal ataxia Hypometric saccades Hypercholesterolemia Spinocerebellar tract degeneration Hypoalbuminemia Thrombocytopenia Cerebellar vermis atrophy Macrocephaly Obesity Clinodactyly Short philtrum Abnormal pyramidal sign Babinski sign Severe short stature Hypogonadism Retinopathy Hypothyroidism Sparse hair Micropenis Rigidity High forehead Long philtrum Mandibular prognathia Midface retrusion Skeletal dysplasia Cardiomyopathy Hypoplasia of the thymus Neoplasm of the breast Chronic myelogenous leukemia Conjunctival telangiectasia Abnormality of chromosome stability Cellular immunodeficiency Chronic lymphatic leukemia Absent Achilles reflex Elevated alpha-fetoprotein Lymphoproliferative disorder Abnormality of the testis B-cell lymphoma Renal neoplasm Recurrent bronchitis Chromosome breakage Recurrent lower respiratory tract infections Abnormal spermatogenesis Decreased proportion of CD4-positive T cells Dilated cardiomyopathy IgE deficiency Ventriculomegaly Delayed speech and language development Cryptorchidism Cataract Downslanted palpebral fissures Frontal bossing Defective B cell differentiation Interosseus muscle atrophy Chronic hepatitis Decreased/absent ankle reflexes Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy Non-Hodgkin lymphoma Mucosal telangiectasiae Aplasia/Hypoplasia of the thymus Female hypogonadism Hypoplasia of the corpus callosum Broad nasal tip Hypermetropia Tetralogy of Fallot Multinodular goiter Gastrointestinal stroma tumor Long neck Hypertelorism Low-set ears Motor delay Behavioral abnormality Abnormality of cardiovascular system morphology Patent ductus arteriosus Abnormal heart morphology Polydactyly Facial palsy Hip dislocation Vesicoureteral reflux Interphalangeal joint contracture of finger Chronic lung disease Preauricular skin tag Spina bifida Congenital hip dislocation Spina bifida occulta Hemangioma Congenital contracture Cupped ear Preauricular pit Small face Body odor Dermoid cyst Asymmetric crying face Status epilepticus Progressive neurologic deterioration Glioma Shuffling gait Synophrys Abnormal lung morphology Falls Triangular face Acute lymphoblastic leukemia Renal agenesis Convex nasal ridge Decreased testicular size Limb undergrowth Pigmentary retinopathy Bradykinesia Sloping forehead Hypotelorism Epidermal acanthosis Cutaneous photosensitivity Broad-based gait Insulin resistance Misalignment of teeth Ectopic kidney Low hanging columella Increased circulating gonadotropin level Abnormality of lipid metabolism Long nose Truncal obesity Cortical gyral simplification High pitched voice Hypergonadotropic hypogonadism Bilateral cryptorchidism Unilateral renal agenesis Postural tremor Goiter Acanthosis nigricans Short chin Severe combined immunodeficiency Autism Hepatocellular carcinoma Metaphyseal dysostosis Ovoid vertebral bodies Aplastic anemia Recurrent viral infections Acute monocytic leukemia Recurrent aphthous stomatitis Metaphyseal chondrodysplasia Anterior rib cupping Metaphyseal sclerosis Persistence of hemoglobin F Paroxysmal nocturnal hemoglobinuria Enlargement of the costochondral junction Proximal femoral metaphyseal irregularity Myocardial necrosis Proximal femoral epiphysiolysis Acute myeloid leukemia Narrow sacroiliac notch Irregular ossification at anterior rib ends Impaired smooth pursuit Nephronophthisis Lower limb spasticity Frequent falls Cerebellar vermis hypoplasia Abnormality of the nervous system Renal insufficiency Impaired distal proprioception Pain insensitivity Spastic dysarthria Distal lower limb muscle weakness Exocrine pancreatic insufficiency Medial flaring of the eyebrow Impaired vibration sensation in the lower limbs Respiratory distress Delayed skeletal maturation Pectus carinatum Intellectual disability, mild Malabsorption Narrow chest Carious teeth Ichthyosis Neutropenia Generalized muscle weakness Sepsis Specific learning disability Microdontia Eczema Abnormality of the metaphysis Multiple lipomas Decreased liver function Short ribs Abnormality of the skeletal system Type I diabetes mellitus Nephrocalcinosis Recurrent bacterial infections Coxa vara Hepatomegaly Myelodysplasia Metaphyseal widening Neonatal respiratory distress Short thorax Steatorrhea Camptodactyly of finger Axonal loss Hypopigmentation of hair Developmental regression Lymphoma Hepatitis Type II diabetes mellitus Intention tremor Bronchiectasis Cafe-au-lait spot Sinusitis Abnormal vertebral morphology Abnormality of the hair Recurrent pneumonia Reduced tendon reflexes Cerebral palsy Breast carcinoma Polycystic ovaries Unsteady gait Spinal muscular atrophy Athetosis Glucose intolerance Osteopenia Premature graying of hair Resting tremor Aplasia/Hypoplasia of the skin Multiple cafe-au-lait spots Telangiectasia of the skin Abnormality of the immune system Prematurely aged appearance IgA deficiency Hodgkin lymphoma Speech apraxia Abnormality of movement Global brain atrophy Distal sensory impairment Steppage gait Sensorimotor neuropathy Brain atrophy Pain Limb fasciculations Peripheral axonal degeneration Facial grimacing Decreased number of large peripheral myelinated nerve fibers Progressive external ophthalmoplegia Axonal degeneration Impaired vibratory sensation External ophthalmoplegia Fasciculations Ophthalmoplegia Abnormality of eye movement Mental deterioration Dementia Broad eyebrow Spasticity Dermal translucency Pneumonia Periorbital fullness Difficulty walking Carcinoma Anxiety Abnormality of the liver Neurological speech impairment Delayed puberty Encephalitis


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