Immunodeficiency, and Aortic valve stenosis

Diseases related with Immunodeficiency and Aortic valve stenosis

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

Top matches:

Medium match 3C SYNDROME

Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).

3C SYNDROME Is also known as dandy-walker-like malformation with atrioventricular septal defect|craniocerebellocardiac dysplasia|3c syndrome|ritscher-schinzel syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3C SYNDROME

Medium match JACOBSEN SYNDROME

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Medium match SYNDROMIC DIARRHEA

Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome|tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|sd/the|the syndrome|phenotypic diarrhea|diarrhea, syndromic|syndromic diarrhea/tricho-hepato-enteric syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC DIARRHEA

Other less relevant matches:

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

The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

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

Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency.

HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY Is also known as hed-id|anhidrotic ectodermal dysplasia with immunodeficiency|eda-id

Related symptoms:

  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections
  • Pneumonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY

Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).

COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY Is also known as mst1 deficiency|cid due to stk4 deficiency|stk4 deficiency

Related symptoms:

  • Anemia
  • Atrial septal defect
  • Immunodeficiency
  • Lymphadenopathy
  • Hemolytic anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY

Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY Is also known as ada deficiency|ada-scid|scid due to adenosine deaminase deficiency|scid due to ada deficiency|scid due to ada deficiency, early-onset

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Hypertension
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY

Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, {163950}) (summary by Martinelli et al., 2018).

MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME Is also known as takenouchi-kosaki syndrome|macrothrombocytopenia and mental retardation syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME

Top 5 symptoms//phenotypes associated to Immunodeficiency and Aortic valve stenosis

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Intrauterine growth retardation Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Immunodeficiency and Aortic valve stenosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Inguinal hernia

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism

Common Symptoms - More than 50% cases

Atrial septal defect

Uncommon Symptoms - Between 30% and 50% cases

Wide nasal bridge Ventricular septal defect Recurrent respiratory infections Smooth philtrum Hernia Recurrent infections Abnormal facial shape Growth delay Failure to thrive Seizures Short stature Toe syndactyly Prominent forehead Attention deficit hyperactivity disorder Thin upper lip vermilion Patent ductus arteriosus Abnormal heart morphology Behavioral abnormality Sensorineural hearing impairment Pyloric stenosis Premature birth Cleft palate Scoliosis Ventriculomegaly Flexion contracture Downslanted palpebral fissures Aortic regurgitation Cryptorchidism Highly arched eyebrow Strabismus Underdeveloped nasal alae Hearing impairment Anteverted nares Missing ribs Unilateral renal agenesis Hand polydactyly Tetralogy of Fallot Renal agenesis Ptosis Pulmonary insufficiency Blepharophimosis Long philtrum Thrombocytopenia Deeply set eye Malar flattening Clinodactyly of the 5th finger Pes planus Language impairment Wide mouth Combined immunodeficiency Facial asymmetry Narrow mouth Diarrhea High, narrow palate Pointed chin Broad forehead Abnormal cardiac septum morphology Prominent nasal bridge Hydronephrosis Optic atrophy Camptodactyly Depressed nasal bridge Short neck Coloboma Feeding difficulties Muscular hypotonia Short nose Generalized hypotonia Abnormality of cardiovascular system morphology Pulmonic stenosis Hypospadias Macrocephaly Abnormality of the skeletal system Micrognathia Frontal bossing

Rare Symptoms - Less than 30% cases

Retinal dysplasia Cerebellar atrophy Abnormal thrombocyte morphology Anemia Severe combined immunodeficiency Hepatomegaly Hydrocephalus Cognitive impairment Pneumonia Anal atresia Neutropenia Recurrent fungal infections Small for gestational age Hip dislocation Dilatation Talipes Syndactyly Webbed neck Pancytopenia Verrucae Inflammatory abnormality of the skin Sinusitis Short toe Spina bifida B-cell lymphoma Autoimmune hemolytic anemia Recurrent bacterial infections Lymphopenia Abnormality of the pinna Recurrent upper respiratory tract infections Respiratory tract infection Oculomotor apraxia Obsessive-compulsive behavior Aortic aneurysm Sandal gap Neoplasm Delayed speech and language development Depressivity Hyperlordosis Joint hyperflexibility Ulnar deviation of finger Arachnodactyly Long face Short palm Short distal phalanx of finger Choanal atresia Bowing of the long bones Recurrent urinary tract infections Bowel incontinence Truncus arteriosus Tapered finger Hypertension Sepsis Chronic diarrhea Brachydactyly Hypoalbuminemia Polydactyly Posteriorly rotated ears Midface retrusion Motor delay Tics Branchial fistula Absent fingernail Absent toenail Increased mean platelet volume Abnormality of earlobe Intractable diarrhea Ankyloglossia Coxa valga Recurrent viral infections Sparse hair Preauricular skin tag Feeding difficulties in infancy Atrioventricular canal defect Intellectual disability, mild Double outlet right ventricle Gastroesophageal reflux Microphthalmia High forehead Hypoplastic left heart Chorioretinal coloboma Postnatal growth retardation Ectopic anus Hemivertebrae Horseshoe kidney Congestive heart failure Clinodactyly Finger syndactyly Iris coloboma Postural instability Bifid uvula Intestinal malrotation Decreased antibody level in blood Growth hormone deficiency Dandy-Walker malformation Osteoporosis Neurological speech impairment Mitral stenosis Humoral immunodeficiency Cerebellar hypoplasia Cerebral cortical atrophy Renal cyst Reduced visual acuity Congenital diaphragmatic hernia Small hand Psychosis Narrow palpebral fissure Autistic behavior Flat face Increased IgE level Anophthalmia Microretrognathia Upslanted palpebral fissure Absent speech Hypoplasia of the corpus callosum Bilateral ptosis Short philtrum Nystagmus Long nose Ataxia Absent specific antibody response Syringomyelia Reduced red cell adenosine deaminase activity Anti-thyroid peroxidase antibody positivity EEG abnormality Ascites Macrotia Exotropia Abnormality of the periventricular white matter Abnormality of the sternum Pericardial effusion Overlapping toe Proximal placement of thumb Sparse eyebrow Tented upper lip vermilion Widely spaced teeth Abnormal intestine morphology Progressive microcephaly Lymphedema Bilateral sensorineural hearing impairment Autism Narrow forehead Dental malocclusion Nevus Myopia Respiratory insufficiency Retinal detachment Obesity Downturned corners of mouth Hyperactivity Bulbous nose Synophrys Micropenis Lack of T cell function Pulmonary artery atresia Arnold-Chiari type I malformation Splenomegaly Hepatitis Asthma Platyspondyly Autoimmunity Hepatosplenomegaly Total anomalous pulmonary venous return Lymphoproliferative disorder Cortical sclerosis Recurrent opportunistic infections Congenital nystagmus Anomalous pulmonary venous return Chronic mucocutaneous candidiasis Right ventricular hypertrophy Increased antibody level in blood Patent foramen ovale Macrothrombocytopenia Recurrent otitis media Absence of lymph node germinal center Diffuse mesangial sclerosis Decrease in T cell count Cellular immunodeficiency B lymphocytopenia Allergy Recurrent lower respiratory tract infections Autoimmune thrombocytopenia IgA deficiency Recurrent pneumonia Malnutrition Anterior rib cupping Abnormality of pelvic girdle bone morphology Eosinophilia Aplasia of the thymus Leukoencephalopathy Purpura Immunoglobulin IgG2 deficiency Flared nostrils Severe intrauterine growth retardation Vesicoureteral reflux Congenital contracture Hemangioma Spina bifida occulta Congenital hip dislocation Renal hypoplasia Interphalangeal joint contracture of finger Facial palsy Preauricular pit Absent nasal bridge Widely-spaced maxillary central incisors Chorioretinitis Intestinal lymphangiectasia Optic nerve coloboma Hydrocele testis Multiple renal cysts Cupped ear Small face Absent tonsils Anhidrotic ectodermal dysplasia Ventricular hypertrophy Lymphoma Protein-losing enteropathy Hemolytic anemia Lymphadenopathy Dysgammaglobulinemia Hypohidrotic ectodermal dysplasia Abnormality of humoral immunity Body odor Recurrent skin infections Bronchiectasis Ectodermal dysplasia Mild microcephaly Severe B lymphocytopenia Asymmetric crying face Dermoid cyst IgM deficiency Megakaryocyte dysplasia Camptodactyly of finger Hypogonadism Low-set, posteriorly rotated ears Intellectual disability, moderate Telecanthus Hypoglycemia Retrognathia Osteopenia Hypothyroidism Agenesis of corpus callosum Skin rash Constipation Pectus excavatum Cerebral atrophy Abnormality of the dentition Talipes equinovarus Epicanthus Spasticity Craniosynostosis Leukemia Primum atrial septal defect Coarctation of aorta Multicystic kidney dysplasia Bone marrow hypocellularity Leukodystrophy Short thumb Amblyopia Pachygyria Abnormal form of the vertebral bodies Eczema Dolichocephaly Dehydration Microdontia Otitis media Microcornea Single transverse palmar crease Bruising susceptibility Tachycardia Narrow chest Cataract Cerebellar malformation Azoospermia Hypoplasia of penis Aplasia/Hypoplasia of the cerebellum Abnormality of the hand Narrow palate Wormian bones Large fontanelles Cerebellar vermis hypoplasia Low posterior hairline Limb undergrowth Prominent occiput Oral cleft Abnormality of the kidney Cleft lip Skeletal dysplasia Glaucoma Brachycephaly Alopecia Kyphosis Abnormality of neuronal migration Mesomelia Facial hemangioma Abnormal mitral valve morphology Contractures of the large joints Posterior fossa cyst Abnormality of the fontanelles or cranial sutures Abnormal tricuspid valve morphology Lethal skeletal dysplasia Complete atrioventricular canal defect Aplasia/Hypoplasia of the nipples Hypoplastic fingernail Congenital glaucoma Communicating hydrocephalus Enlarged cisterna magna Single umbilical artery Pierre-Robin sequence Adrenal hypoplasia Posterior embryotoxon Narrow nasal bridge Abnormality of the hip bone Holoprosencephaly Abnormal palate morphology Abnormalities of placenta or umbilical cord Hepatic failure Leukopenia Abnormality of the hair Hepatic fibrosis Depressed nasal ridge Fine hair Aciduria Wide nose Cirrhosis Abnormality of the immune system Dry skin Delayed puberty Microtia Abnormality of the liver Elevated hepatic transaminase Jaundice Polyhydramnios Proptosis Brittle hair Curly hair Abnormality of the curvature of the vertebral column Secretory diarrhea Large placenta Abnormality of iron homeostasis Galactosuria Hypermethioninemia Renal cortical microcysts Increased serum iron Hypergalactosemia Intermittent diarrhea Iron deficiency anemia Trichorrhexis nodosa Peripheral pulmonary artery stenosis Abnormality of the pancreas Villous atrophy Large forehead Woolly hair Thrombocytosis Underdeveloped supraorbital ridges Edema Congenital thrombocytopenia Tachypnea Slender finger Chronic constipation Diastasis recti Abnormal eyelash morphology Bipolar affective disorder Wheezing Transposition of the great arteries Natal tooth Partial agenesis of the corpus callosum Duodenal atresia Aplasia/Hypoplasia of the eyebrow Flat occiput Hammertoe Heart murmur Ectropion Trigonocephaly Schizophrenia Infantile muscular hypotonia Eyelid coloboma Broad hallux phalanx Bilateral camptodactyly Clitoral hypoplasia Arteria lusoria Internal hemorrhage Annular pancreas Abnormality of the anus Toe clinodactyly Giant platelets Macular hypoplasia Central hypothyroidism Nuclear cataract U-Shaped upper lip vermilion Urethral stenosis Long hallux Abnormality of the head Nasolacrimal duct obstruction Broad columella Labial hypoplasia Aplasia/Hypoplasia of the earlobes Eversion of lateral third of lower eyelids


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