Immunodeficiency, and Myopathy

Diseases related with Immunodeficiency and Myopathy

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

Top matches:

Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY Is also known as gde deficiency|gsd due to glycogen debranching enzyme deficiency|cori-forbes disease|glycogenosis type iii|glycogen storage disease type 3|gsd type 3|limit dextrinosis|glycogen storage disease type iii|glycogenosis type 3|glycogenosis due to glycogen debr

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY

Polyglucosan body myopathy-1 is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). Genetic Heterogeneity of Polyglucosan Body MyopathySee also PGBM2 (OMIM ), caused by mutation in the GYG1 gene (OMIM ) on chromosome 3q24.

POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1 Is also known as polyglucosan body myopathy, early-onset, with or without immunodeficiency|pbmei

Related symptoms:

  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1

Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.

COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY Is also known as cid due to stim1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 2|stim1 deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Anemia
  • Myopathy
  • Diarrhea


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY

Other less relevant matches:

Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.

ACQUIRED PARTIAL LIPODYSTROPHY Is also known as apld, susceptibility to|progressive cephalothoracic lipodystrophy|barraquer-simons syndrome|lipodystrophy, cephalothoracic type|lipodystrophy, partial, progressive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertension
  • Myopathy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACQUIRED PARTIAL LIPODYSTROPHY

Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.

COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY Is also known as cid due to orai1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY

Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990).Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).Lucchiari et al. (2007) provided a review of GSD III.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM Is also known as glycogenosis type iv, childhood combined hepatic and myopathic form|gde deficiency|glycogen storage disease type iv, childhood combined hepatic and myopathic form|gsd type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branc

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

Medium match CUSHING DISEASE

Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.

CUSHING DISEASE Is also known as corticotroph pituitary adenoma|pituitary-dependent cushing syndrome|pituitary corticotroph micro-adenoma

Related symptoms:

  • Failure to thrive
  • Cataract
  • Visual impairment
  • Hypertension
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about CUSHING DISEASE

Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome|hrd syndrome|sanjad-sakati syndrome|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay|sss|hypoparathyroidism wi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SANJAD-SAKATI SYNDROME

ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see {610489}), which is often a component of the Carney complex (OMIM ) and associated with mutations in the PRKAR1A gene (OMIM ) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).See also ACTH-independent Cushing syndrome (OMIM ) due to somatic mutation in the PRKACA gene (OMIM ).Cushing 'disease' (OMIM ) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal HyperplasiaAIMAH2 (OMIM ) is caused by germline mutation of 1 allele of the ARMC5 gene (OMIM ) coupled with a somatic mutation in the other allele.

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 Is also known as acth-independent macronodular adrenocortical hyperplasia|cushing syndrome, adrenal, due to aimah|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Cataract
  • Visual impairment


SOURCES: OMIM MESH MENDELIAN

More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1

Medium match TIMOTHY SYNDROME

Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

Top 5 symptoms//phenotypes associated to Immunodeficiency and Myopathy

Symptoms // Phenotype % cases
Failure to thrive Common - Between 50% and 80% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Muscle weakness Depressed nasal bridge Muscular hypotonia Thin upper lip vermilion Growth delay Round face Pneumonia Lymphadenopathy Depressivity Short stature Lipodystrophy Hypocalcemia Abnormal facial shape Global developmental delay Premature ovarian insufficiency Generalized hirsutism Abnormality of dental enamel Diabetes mellitus Hypertension Amelogenesis imperfecta Intellectual disability Cardiomegaly Thin vermilion border Hepatomegaly Elevated serum creatine phosphokinase Hepatosplenomegaly Hypertriglyceridemia Hypoglycemia Deeply set eye Elevated hepatic transaminase

Rare Symptoms - Less than 30% cases

Metrorrhagia Sinusitis Hypertrophic cardiomyopathy Obesity Onychomycosis Skeletal muscle atrophy Telangiectasia of the skin Encephalopathy Visual impairment Hirsutism Low-set ears Abnormality of the dentition Hearing impairment Prominent forehead Cataract Headache Pituitary adenoma Recurrent fractures Menorrhagia Acne Hypokalemia Recurrent skin infections Venous thrombosis Nephrolithiasis Thin skin Generalized hyperpigmentation Aseptic necrosis Sleep disturbance Truncal obesity Bruising susceptibility Infertility Bipolar affective disorder Lethargy Anxiety Abdominal pain Osteoporosis Visual loss Adrenal hyperplasia Psychosis Fatigue Intellectual disability, mild Midface retrusion Proximal muscle weakness Abnormality of lipid metabolism Myalgia Hyperlipidemia Abnormality of the liver Hepatic fibrosis Nephrotic syndrome Ventricular hypertrophy Full cheeks Broad nasal tip Distal amyotrophy Eczema Progressive muscle weakness Hypoplasia of dental enamel Pyelonephritis Thrombocytopenia Episodic fever Anhidrosis Diarrhea Recurrent bacterial infections Congestive heart failure Autoimmunity Hypotension Striae distensae Subarachnoid hemorrhage Memory impairment Orthostatic hypotension Increased body weight Mental deterioration Neoplasm of the endocrine system Abdominal obesity Decreased circulating ACTH level Osteopenia Mood changes Agitation Moon facies Increased circulating cortisol level Hypocalcemic seizures Kyphosis Spinal canal stenosis Small for gestational age Astigmatism Short palm Small hand Short foot Bifid uvula Delayed myelination Growth hormone deficiency Convex nasal ridge Hypoplasia of penis Intestinal obstruction External ear malformation Edema Severe intrauterine growth retardation Hypoparathyroidism Hyperphosphatemia Decreased circulating cortisol level Tetany Aplasia/Hypoplasia affecting the eye Cellular immunodeficiency Macronodular adrenal hyperplasia Congenital hypoparathyroidism Patchy osteosclerosis Neoplasm Dorsocervical fat pad Myopia Primary hypercortisolism Prolonged QT interval Bradycardia Cardiac arrest Ventricular tachycardia Cutaneous syndactyly Ventricular arrhythmia Optic nerve hypoplasia Atrioventricular block Patent foramen ovale Obsessive-compulsive behavior Ventricular fibrillation 2-3 toe syndactyly Multiple joint contractures Mixed hearing impairment Pulmonary arterial hypertension Bronchitis Cutaneous finger syndactyly Protruding tongue Hypothermia Perimembranous ventricular septal defect Torsade de pointes Cutaneous syndactyly of toes Biventricular hypertrophy Frontal balding Abnormality of dental color T-wave alternans Atrioventricular dissociation Abnormality of the face Tetralogy of Fallot Hypertelorism Autism Cognitive impairment Wide nasal bridge Postnatal growth retardation Dysphagia Ventricular septal defect Behavioral abnormality Syndactyly Abnormality of cardiovascular system morphology Patent ductus arteriosus Arrhythmia Abnormal heart morphology Constipation Hypothyroidism Microdontia Gastroesophageal reflux Autistic behavior Abnormal cardiac septum morphology Hip dislocation Carious teeth Toe syndactyly Joint hypermobility Coma Hypoplasia of the maxilla Sudden cardiac death Syncope Esotropia Corneal opacity Recurrent lower respiratory tract infections Low-set, posteriorly rotated ears Hemolytic anemia Fever Talipes equinovarus Pectus excavatum Asthma Difficulty walking Dry skin Neutropenia Sepsis Ectodermal dysplasia Chronic diarrhea Respiratory insufficiency due to muscle weakness Nail dysplasia Encephalitis Gowers sign Progressive encephalopathy Heat intolerance Stomatitis Recurrent aphthous stomatitis Hypoplasia of the thymus Protracted diarrhea Pain Anteverted nares Spasticity Loss of subcutaneous adipose tissue from upper limbs Carcinoma Insulin resistance Hypoplasia of the iris Autoimmune hemolytic anemia Alopecia Sarcoma Arthralgia Proteinuria Hepatic steatosis Hematuria Nephropathy Hypertrichosis Recurrent pneumonia Progressive loss of facial adipose tissue Polycystic ovaries Hypohidrosis Glomerulonephritis Lipoatrophy Glomerulopathy Microscopic hematuria Progeroid facial appearance Lymphocytosis Membranoproliferative glomerulonephritis Decreased serum complement C3 Loss of truncal subcutaneous adipose tissue Malar flattening Scarring Muscular hypotonia of the trunk Hypoplasia of the corpus callosum Exercise intolerance Left ventricular hypertrophy Lactic acidosis Peripheral axonal neuropathy Microcephaly Micrognathia Cryptorchidism Intrauterine growth retardation Frontal bossing Ventriculomegaly Intermittent diarrhea Increased muscle fatiguability Long philtrum Microphthalmia Delayed skeletal maturation Recurrent respiratory infections Severe short stature Posteriorly rotated ears Motor delay Hypogonadism Micropenis High forehead Neurodevelopmental delay Sinus tachycardia Cirrhosis Micronodular cirrhosis Hepatic failure Otitis media Epistaxis Decreased liver function Anemia Progressive hearing impairment Recurrent sinusitis Ketosis Recurrent corneal erosions Skeletal myopathy Periportal fibrosis Increased hepatic glycogen content Ketotic hypoglycemia Pharyngitis Gastrointestinal inflammation Recurrent pharyngitis Severe failure to thrive Progressive proximal muscle weakness Leukocytosis Psoriasiform dermatitis Dilated cardiomyopathy Ptosis Scoliosis Abnormal direction of ventricular apex


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