Immunodeficiency, and Aganglionic megacolon

Diseases related with Immunodeficiency and Aganglionic megacolon

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

Top matches:

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Other less relevant matches:

Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

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

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

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY Is also known as mendelian susceptibility to mycobacterial diseases due to complete interleukin 12b deficiency|msmd due to complete interleukin 12b deficiency|msmd due to complete il12b deficiency|il12b deficiency

Related symptoms:

  • Immunodeficiency
  • Lymphadenopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY

IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5 Is also known as antibody deficiency due to cd20 defect

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5

Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.

Related symptoms:

  • Immunodeficiency
  • Leukocytosis
  • Poor wound healing
  • Neutrophilia
  • Rectal abscess


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEUTROPHIL IMMUNODEFICIENCY SYNDROME

Related symptoms:

  • Immunodeficiency
  • Diabetes mellitus
  • Decreased antibody level in blood
  • Psoriasiform dermatitis
  • Colitis


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14

Top 5 symptoms//phenotypes associated to Immunodeficiency and Aganglionic megacolon

Symptoms // Phenotype % cases
Failure to thrive Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Hearing impairment Respiratory distress Mental deterioration Cataract Decreased antibody level in blood Delayed skeletal maturation Constipation Recurrent infections Wide nasal bridge Epicanthus Respiratory tract infection Hypertension Microcephaly Growth delay Global developmental delay Strabismus Neoplasm Cryptorchidism

Rare Symptoms - Less than 30% cases

Gastrointestinal hemorrhage Abnormal facial shape Micrognathia Overweight Hypocalcemia Convex nasal ridge Psoriasiform dermatitis Leukemia Joint hypermobility Joint hyperflexibility Visual impairment Joint laxity EEG abnormality Abnormal eyelid morphology Thrombocytopenia Splenomegaly Ptosis Short neck Cognitive impairment Cardiomyopathy Behavioral abnormality Low-set ears Feeding difficulties in infancy Diabetes mellitus Headache Fatigue Truncal obesity Impulsivity Exotropia Recurrent fractures Hirsutism Dysphagia Patellar dislocation Bipolar affective disorder Acne Laryngomalacia Anxiety Optic atrophy Gastroesophageal reflux Polyhydramnios Narrow mouth Autism Glaucoma Patent ductus arteriosus Hypospadias Depressivity Obesity Recurrent bacterial infections Abnormality of the dentition Atrial septal defect Downslanted palpebral fissures Abnormality of dental enamel Ventricular septal defect Hyperhidrosis Abnormality of the kidney Inguinal hernia Myopia Developmental regression Flexion contracture Alopecia Nystagmus Agenesis of corpus callosum Macrotia Recurrent respiratory infections Severe short stature Choanal atresia Polydactyly Intrauterine growth retardation Umbilical hernia Cleft palate Hypotrichosis Frontal bossing Specific learning disability Dilatation Abnormality of the ribs Kyphosis Microphthalmia Hypoplasia of dental enamel Abnormality of the pinna Postnatal growth retardation Broad thumb Mitral regurgitation Low posterior hairline Coarctation of aorta Pulmonic stenosis Coloboma Hypoplasia of the maxilla Unsteady gait Thick eyebrow Ventriculomegaly Iris coloboma Otitis media Highly arched eyebrow Single transverse palmar crease Dental malocclusion Prominent nose Hypohidrosis Long eyelashes Dislocated radial head Flared iliac wings Dyslexia Meningioma Short attention span Hypoplastic iliac wing Low hanging columella Capillary hemangioma Obstructive sleep apnea Self-mutilation Poor coordination Shawl scrotum Neuroblastoma Neurofibromas Dental crowding Congenital glaucoma Feeding difficulties Delayed cranial suture closure Broad hallux Recurrent upper respiratory tract infections Bicuspid aortic valve Spina bifida occulta Narrow palate Low anterior hairline Wide anterior fontanel Deeply set eye Cafe-au-lait spot Stereotypy Intellectual disability, moderate Pectus excavatum Thin upper lip vermilion Abnormality of the skull Abnormal thrombocyte morphology Seborrheic dermatitis Hypoplasia of the thymus Tetany Corneal neovascularization Abnormality of the uterus Chronic obstructive pulmonary disease Atelectasis Varicose veins Truncus arteriosus Meningocele Multiple renal cysts Abnormality of the pharynx Intellectual disability, severe Hypoparathyroidism Turricephaly Abnormal lung lobation Posterior embryotoxon Foot polydactyly Hyperthyroidism Bowel incontinence Dysphasia Chronic otitis media Overfolded helix Abnormal aortic valve morphology Small earlobe Pes planus High palate Retrognathia Proptosis Hyperactivity Clinodactyly of the 5th finger Abnormal heart morphology Arrhythmia Avascular necrosis of the capital femoral epiphysis Syndactyly Hypoplasia of the corpus callosum Hyperreflexia Delayed speech and language development Generalized hypotonia Platybasia Occipital myelomeningocele Abnormality of the tonsils Tricuspid atresia Multiple suture craniosynostosis Abnormal aortic arch morphology Hypertensive crisis Retinal arteriolar tortuosity Anorectal anomaly Abnormal pulmonary valve morphology Impaired T cell function Arrhinencephaly Abnormality of refraction Rhabdomyosarcoma Pheochromocytoma Bruising susceptibility Hypokalemia Recurrent skin infections Venous thrombosis Generalized hirsutism Increased body weight Nephrolithiasis Thin skin Psychosis Memory impairment Hypotension Round face Sleep disturbance Infertility Premature ovarian insufficiency Lethargy Osteopenia Abdominal pain Osteoporosis Visual loss Myopathy Edema Skeletal muscle atrophy Muscle weakness Episodic hemiplegia Episodic quadriplegia Bronchospasm Abnormality of the mitochondrion Lipodystrophy Agitation Wheezing Metrorrhagia Colitis Abnormality of neutrophil physiology Urachal cyst Rectal abscess Neutrophilia Poor wound healing Leukocytosis Lymphadenopathy Primary hypercortisolism Macronodular adrenal hyperplasia Dorsocervical fat pad Moon facies Onychomycosis Menorrhagia Mood changes Decreased circulating ACTH level Abdominal obesity Neoplasm of the endocrine system Pituitary adenoma Adrenal hyperplasia Increased circulating cortisol level Subarachnoid hemorrhage Aseptic necrosis Generalized hyperpigmentation Striae distensae Telangiectasia of the skin Orthostatic hypotension Facial paralysis Anhidrosis Medulloblastoma Keloids Enlarged tonsils Talon cusp Deviated nasal septum Premature thelarche Narrow maxilla Large foramen magnum Agoraphobia Bifid uterus Vascular ring Duplication of phalanx of hallux Dyscalculia Chorioretinal dystrophy Duane anomaly High axial triradius Prominent fingertip pads Frontal upsweep of hair Bimanual synkinesia Short upper lip Parietal foramina Abnormality of the cervical spine Facial grimacing Tethered cord Phonophobia Broad distal phalanx of finger Hand polydactyly Nasolacrimal duct obstruction Abnormal cornea morphology Papillary cystadenoma of the epididymis Abnormal number of teeth Oral-pharyngeal dysphagia Chorea Stridor Hemiplegia Slurred speech Abnormal autonomic nervous system physiology Muscle stiffness Bradycardia Involuntary movements Choreoathetosis Hemiparesis Status epilepticus Esotropia Migraine Parkinsonism Radial deviation of thumb terminal phalanx Tetraplegia Abnormality of eye movement Generalized tonic-clonic seizures Paralysis Abnormality of the eye Dyspnea Pes cavus Areflexia Dystonia Pain Sensorineural hearing impairment Ataxia Plantar crease between first and second toes Abnormality of the thorax Tetralogy of Fallot Cholelithiasis Palmoplantar keratoderma Hyperlordosis Low-set, posteriorly rotated ears Dry skin Carcinoma Ichthyosis Skeletal dysplasia Brachycephaly Prominent forehead Pneumonia Pulmonary hypoplasia Postaxial polydactyly Diarrhea Abnormal cardiac septum morphology Brain atrophy Ectodermal dysplasia Respiratory insufficiency Anteverted nares Abnormality of the skeletal system Nail dysplasia Hepatomegaly Postaxial hand polydactyly Depressed nasal bridge Eczema Anemia Oligohydramnios Sparse hair Pectus carinatum Unilateral chest hypoplasia Papule Gingival overgrowth Abnormality of retinal pigmentation Rhizomelia Abnormality of epiphysis morphology Bronchiectasis Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the metaphysis Depressed nasal ridge Fine hair Blue sclerae Lumbar hyperlordosis Nail dystrophy Astigmatism Platyspondyly Lymphoma Postural instability Hypopigmentation of the skin Neutropenia Small hand Short palm Micromelia Talipes Narrow chest Malabsorption Arthrogryposis multiplex congenita Epidermal acanthosis Ichthyosis follicularis Lymphopenia Unilateral renal agenesis Oligodactyly Ectrodactyly Atonic seizures Congenital ichthyosiform erythroderma Abnormality of the vertebral column Absent septum pellucidum Mixed hearing impairment Hydroureter Absent eyebrow Keratitis Intestinal obstruction Bifid scrotum Erythroderma Uveitis Omphalocele Scaling skin Urticaria Abnormality of the hand Plagiocephaly Opacification of the corneal stroma Renal dysplasia Conjunctivitis Hemivertebrae Multicystic kidney dysplasia Abnormality of the nail Abnormality of the hair Submucous cleft hard palate Parakeratosis Abnormal pelvis bone morphology Cheilitis Thin fingernail Scleritis Hypoplasia of the bladder Cerebral cortical hemiatrophy Paronychia Episcleritis Hyperconvex fingernails Abnormality of temperature regulation Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Corneal scarring Abnormality of the upper urinary tract Alopecia universalis Alopecia of scalp Oxycephaly Thin eyebrow Alopecia totalis Olivopontocerebellar atrophy Recurrent corneal erosions Hypoplastic fingernail Heat intolerance Follicular hyperkeratosis Corneal erosion Absent eyelashes Abnormal eyelash morphology Blepharitis Sparse and thin eyebrow Short ribs Polycystic kidney dysplasia Hypertelorism Malar flattening Long philtrum Intellectual disability, mild Hyperkeratosis Hydrocephalus Talipes equinovarus Photophobia Hydronephrosis Camptodactyly Erythema Scarring Camptodactyly of finger Pulmonary lymphoma Cerebral cortical atrophy Susceptibility to chickenpox Flaring of lower rib cage Absent pubertal growth spurt Abnormality of humoral immunity Biconvex vertebral bodies Severe T-cell immunodeficiency Sparse facial hair Impaired lymphocyte transformation with phytohemagglutinin Metaphyseal dysostosis Non-Hodgkin lymphoma Long fibula Narrow vertebral interpedicular distance Abnormality of cardiovascular system morphology Dementia Abnormal T cell morphology Arachnodactyly Nasal speech Schizophrenia Hypopigmented skin patches Purpura Spina bifida Renal hypoplasia Abnormal vertebral morphology Intestinal malrotation Vesicoureteral reflux Asthma Bulbous nose Long face Anal atresia Upslanted palpebral fissure Carious teeth Prominent nasal bridge Short philtrum Attention deficit hyperactivity disorder Autoimmunity Hernia Telecanthus Arthritis Myalgia Conductive hearing impairment Cerebellar hypoplasia Hypothyroidism Abnormality of the distal phalanx of finger Hypoplastic anemia Hip dislocation Short thorax Hypoplasia of the odontoid process Anal stenosis Hodgkin lymphoma Macrocytic anemia Metaphyseal dysplasia High hypermetropia Abnormality of the hip bone Tibial bowing Basal cell carcinoma Limited elbow extension Femoral bowing Mesomelia Squamous cell carcinoma Distal arthrogryposis Cone-shaped epiphysis Metaphyseal widening Portal hypertension Genu varum Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Sacral dimple Reduced tendon reflexes Abnormal palate morphology Neoplasm of the skin Accelerated skeletal maturation Sparse eyelashes Esophageal atresia Exocrine pancreatic insufficiency Abnormally ossified vertebrae Metaphyseal cupping Abnormal bone ossification Neonatal short-limb short stature Congenital hypoplastic anemia Spinal dysraphism Large face Hypersplenism Normocytic anemia Mucopolysacchariduria Abnormal diaphysis morphology Diaphyseal thickening Bronchiolitis Abnormality of chromosome stability Cellular immunodeficiency Thrombocytosis Metaphyseal chondrodysplasia Aplasia/Hypoplasia affecting the eye Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the pancreas Aplastic anemia B-cell lymphoma Generalized joint laxity Tracheal stenosis Fair hair Heart block Upper limb undergrowth Corneal opacity Recurrent sinopulmonary infections


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