Immunodeficiency, and Osteopenia

Diseases related with Immunodeficiency and Osteopenia

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

Top matches:

Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.

CONGENITAL ERYTHROPOIETIC PORPHYRIA Is also known as cep|gÜnther disease

Related symptoms:

  • Splenomegaly
  • Immunodeficiency
  • Thrombocytopenia
  • Osteopenia
  • Abnormality of the foot


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL ERYTHROPOIETIC PORPHYRIA

Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).

COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES Is also known as combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay|roifman-chitayat syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES

Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Feeding difficulties
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about INFANTILE SYSTEMIC HYALINOSIS

Other less relevant matches:

Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT Is also known as hies, autosomal dominant|hyper-ige syndrome, autosomal dominant|job syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • High palate
  • Wide nasal bridge


SOURCES: OMIM MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.

AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME Is also known as candf7|candidiasis, familial, 7|candidiasis, familial chronic mucocutaneous, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Anemia
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS 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

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

Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).

BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY Is also known as lipoatrophic diabetes|generalized congenital lipodystrophy|gcl|brunzell syndrome|bscl|beradinelli-seip syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY

Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009).Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois DysplasiaDBQD2 (OMIM ) is caused by mutation in the XYLT1 gene (OMIM ) on chromosome 16p12.Two unrelated patients with immunodeficiency-23 (IMD23 ), due to mutation in the PGM3 gene (OMIM ), were reported to have skeletal features reminiscent of DBQD.

DESBUQUOIS DYSPLASIA 1; DBQD1 Is also known as desbuquois syndrome|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about DESBUQUOIS DYSPLASIA 1; DBQD1

Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Top 5 symptoms//phenotypes associated to Immunodeficiency and Osteopenia

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Osteoporosis Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Recurrent fractures Intellectual disability Global developmental delay Pneumonia Short neck Failure to thrive Thrombocytopenia Malabsorption Recurrent bacterial infections Abnormality of the skeletal system Kyphosis Diabetes mellitus Depressed nasal bridge Delayed skeletal maturation Abnormal facial shape Cardiomyopathy Abnormality of skin pigmentation Congestive heart failure Hyperlordosis Anemia Steatorrhea Eczema Recurrent skin infections Thickened skin

Rare Symptoms - Less than 30% cases

Generalized osteoporosis Inflammatory abnormality of the skin Neoplasm Encephalitis Lymphoma Muscle weakness Hypertension Villous atrophy Dilatation Type I diabetes mellitus Chronic mucocutaneous candidiasis Lymphopenia Sepsis Decrease in T cell count Autoimmunity B lymphocytopenia Onychomycosis Hypothyroidism Diarrhea Pulmonary arterial hypertension Splenomegaly Edema Coxa vara Protuberant abdomen Waddling gait Platyspondyly Abnormality of the kidney Intrauterine growth retardation Myopia Motor delay Glomerulopathy Atherosclerosis Nephropathy Renal insufficiency Ovoid vertebral bodies Metaphyseal widening Bone marrow hypocellularity Myopathy Microdontia Neutropenia Narrow chest Elevated hepatic transaminase Respiratory distress Hepatomegaly Generalized hypotonia Lipodystrophy Generalized hirsutism Mandibular prognathia Hirsutism Obesity Headache Round face Skeletal dysplasia Severe short stature Skin ulcer Wide nasal bridge Ventriculomegaly Arthritis Telangiectasia of the skin Urticaria Polycystic ovaries Short metacarpal Short metatarsal Abnormality of the hand Seizures Micromelia Hemolytic anemia Combined immunodeficiency Joint stiffness Coarse facial features Macrocephaly Brachydactyly Abnormality of the foot Hypertelorism Muscular hypotonia Abnormality of the dentition Pyloric stenosis Joint laxity Renal cyst Short distal phalanx of finger Flat face Hypertriglyceridemia Smooth philtrum Abnormal blistering of the skin Postnatal growth retardation Cutaneous photosensitivity Pes planus Ventricular hypertrophy Kyphoscoliosis High forehead Proptosis Narrow mouth Respiratory failure Glaucoma Clinodactyly Midface retrusion Abdominal distention Epidermal acanthosis Short nose Microretrognathia Cirrhosis Hepatic failure Nonimmune hydrops fetalis Short femoral neck Genu varum Disproportionate short-limb short stature Hepatic steatosis Sandal gap Growth hormone deficiency Nail dysplasia Joint dislocation Coxa valga Horseshoe kidney Rhizomelia Broad thumb Bowing of the long bones Osteoarthritis Depressed nasal ridge Wide intermamillary distance Malar flattening Anteverted nares Prominent supraorbital ridges IgA deficiency Exercise-induced myalgia Pancreatitis Prominent superficial veins Broad foot Oligomenorrhea Progressive proximal muscle weakness Growth hormone excess Acanthosis nigricans Atypical scarring of skin Arterial stenosis Secondary amenorrhea Blepharitis Spinal rigidity Lipoatrophy Skeletal muscle hypertrophy Large hands Hyperinsulinemia Precocious puberty Bone cyst Generalized lipodystrophy Talipes equinovarus Thoracic hypoplasia Hypertrichosis Atrial fibrillation Epicanthus Ectropion Myocardial infarction Palpitations Insulin resistance Micrognathia Bradycardia Prolonged QTc interval Congenital generalized lipodystrophy Abnormality of the hair Muscle stiffness Abnormal levels of creatine kinase in blood Abnormal oral cavity morphology Atlantoaxial dislocation Dysmenorrhea Loss of subcutaneous adipose tissue in limbs Accelerated skeletal maturation Abnormality of skeletal muscle fiber size Prominent forehead Congenital glaucoma Epiphyseal dysplasia Multiple cafe-au-lait spots Hypermelanotic macule High pitched voice Emphysema Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Melanocytic nevus Nephritis Glomerulonephritis Glomerulosclerosis Transient ischemic attack Chronic kidney disease Coarse hair Reduced bone mineral density Azoospermia Hyperlipidemia Opacification of the corneal stroma Abnormality of epiphysis morphology Heterotopia Abnormal form of the vertebral bodies Abnormal lung morphology Abnormality of the vasculature Thoracic kyphosis Intellectual disability, profound Multiple lentigines Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Mucopolysacchariduria Disproportionate short-trunk short stature Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Cellular immunodeficiency Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Lymphoproliferative disorder B-cell lymphoma Fine hair Lumbar hyperlordosis Cystic hygroma Long upper lip Multiple carpal ossification centers Supernumerary metacarpal bones Phalangeal dislocation Partial duplication of the distal phalanx of the hallux Advanced tarsal ossification Bifid distal phalanx of the thumb Large joint dislocations Multiple joint dislocation Advanced ossification of carpal bones Vertebral clefting Broad first metatarsal Hypoplastic vertebral bodies Flattened epiphysis Open angle glaucoma Broad femoral neck Coronal cleft vertebrae Short 1st metacarpal Generalized joint laxity Flat acetabular roof Irregular vertebral endplates Hypertrophic cardiomyopathy Proximal fibular overgrowth Radioulnar dislocation Nephrotic syndrome Corneal opacity Decreased testicular size Premature birth Migraine Brain atrophy Gliosis Abnormal cerebellum morphology Bulbous nose Stage 5 chronic kidney disease Astigmatism Hip dislocation Stroke Medial deviation of the foot Scarring Developmental regression Proteinuria Thin upper lip vermilion Dementia Vomiting Cerebellar atrophy Fever Cognitive impairment Splayed fingers Recurrent corneal erosions Myocardial necrosis Myalgia Bronchiectasis Inflammation of the large intestine Patent foramen ovale Subcutaneous nodule Recurrent upper respiratory tract infections Leukoencephalopathy Abnormal intestine morphology Purpura Chronic diarrhea Gingival overgrowth Lymphedema Thyroiditis Hepatitis Hyperpigmentation of the skin Delayed puberty Carcinoma Hepatosplenomegaly Increased susceptibility to fractures Recurrent respiratory infections Abnormality of dental morphology Abnormality of the musculature Autoimmune hemolytic anemia Autoimmune thrombocytopenia Abnormality of the gastrointestinal tract Functional abnormality of the bladder Cataract Camptodactyly of finger Abnormal serum interferon-gamma level Medial calcification of large arteries Esophageal carcinoma Oropharyngeal squamous cell carcinoma Susceptibility to herpesvirus Recurrent Aspergillus infections Carotid artery dilatation Autoimmune neutropenia Pulmonary embolism Renal artery stenosis Renovascular hypertension Antiphospholipid antibody positivity Primary hypothyroidism Enterocolitis Immune dysregulation Short palm Abnormality of the endocrine system Dilatation of the cerebral artery Hashimoto thyroiditis Osteomalacia Impaired neutrophil chemotaxis Skeletal muscle atrophy Prominent nose Squamous cell carcinoma Chronic otitis media Eosinophilia Hemivertebrae Sinusitis Frontal bossing Thick lower lip vermilion Dysphagia Otitis media Asthma Recurrent sinusitis Wide nose Joint hypermobility Facial asymmetry Pruritus Cough Skin rash Craniosynostosis Erythema Deeply set eye Bronchitis Atopic dermatitis Squamous cell carcinoma of the vulva T-cell lymphoma Anal canal squamous carcinoma Lung abscess Opportunistic infection Recurrent candida infections Recurrent Staphylococcus aureus infections Severe viral infections Abnormality of the adrenal glands Recurrent bacterial skin infections Eczematoid dermatitis Recurrent fungal infections Recurrent bronchitis Fractures of the long bones Aplasia/Hypoplasia of the thymus Persistence of primary teeth Strabismus Red hair Increased IgE level Recurrent sinopulmonary infections Verrucae Hemihypertrophy High palate Visual impairment Fatigue Hyperhidrosis Pancytopenia Short thorax Neonatal respiratory distress Abnormality of the heme biosynthetic pathway Myelodysplasia Leukopenia Nephrocalcinosis Short ribs Decreased liver function Abnormality of the metaphysis Apraxia Myeloid leukemia Specific learning disability Generalized muscle weakness Optic atrophy Ichthyosis Carious teeth Leukemia Small for gestational age Pectus carinatum Respiratory tract infection Multiple lipomas Acute myeloid leukemia Intellectual disability, mild Proximal femoral metaphyseal irregularity Arrhythmia Keratoconjunctivitis Peripheral neuropathy Flexion contracture Irregular ossification at anterior rib ends Narrow sacroiliac notch Proximal femoral epiphysiolysis Metaphyseal dysostosis Constipation Enlargement of the costochondral junction Exocrine pancreatic insufficiency Paroxysmal nocturnal hemoglobinuria Persistence of hemoglobin F Metaphyseal sclerosis Anterior rib cupping Metaphyseal chondrodysplasia Recurrent aphthous stomatitis Acute monocytic leukemia Recurrent viral infections Aplastic anemia Abnormal urinary color Umbilical hernia Generalized myoclonic seizures Feeding difficulties Sleep disturbance Hypokalemia Venous thrombosis Increased body weight Nephrolithiasis Thin skin Psychosis Memory impairment Hypotension Underdeveloped supraorbital ridges Lacrimal duct stenosis Premature ovarian insufficiency Bruising susceptibility Infertility Lethargy Mental deterioration Anxiety Abdominal pain Visual loss Depressivity Thin lower lip vermilion Ectopic kidney Acne Gait disturbance Neoplasm of the endocrine system Cone-shaped epiphysis Primary hypercortisolism Macronodular adrenal hyperplasia Dorsocervical fat pad Moon facies Metrorrhagia Mood changes Decreased circulating ACTH level Abdominal obesity Pituitary adenoma Agitation Adrenal hyperplasia Increased circulating cortisol level Bipolar affective disorder Subarachnoid hemorrhage Aseptic necrosis Generalized hyperpigmentation Striae distensae Orthostatic hypotension Truncal obesity Menorrhagia Lateral displacement of the femoral head


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Neuroblastoma and Infertility, related diseases and genetic alterations Lymphoma and Peripheral axonal neuropathy, related diseases and genetic alterations Hydrocephalus and Sudden cardiac death, related diseases and genetic alterations