Anemia, and Aortic valve stenosis

Diseases related with Anemia and Aortic valve stenosis

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


Top matches:

Low match ANAUXETIC DYSPLASIA 1; ANXD1


Anauxetic dysplasia is a form of spondylometaepiphyseal dysplasia characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. Major radiographic characteristics are late-maturing ovoid vertebral bodies with concave dorsal surfaces in the lumbar region; small capital femoral epiphyses; hypoplastic femoral necks; hypoplastic iliac bodies and shallow acetabulae; irregular metaphyseal mineralization and demarcation of the long tubular bones; short first and fifth metacarpals with widened shafts; very short and broad phalanges with small, late-ossifying epiphyses and bullet-shaped middle phalanges; and midface hypoplasia. The number of chondrocytes is severely reduced in the resting and proliferating cartilage, with diminished columnization of the hypertrophic zone (summary by Thiel et al., 2005).Mutations in RMRP also cause 2 milder types of short stature with susceptibility to cancer, cartilage-hair hypoplasia (CHH ) and metaphyseal dysplasia without hypotrichosis (OMIM ). Genetic Heterogeneity of Anauxetic DysplasiaAnauxetic dysplasia-2 (ANXD2 ) is caused by mutation in the POP1 gene on chromosome 8q22.

ANAUXETIC DYSPLASIA 1; ANXD1 Is also known as spondyloepimetaphyseal dysplasia, anauxetic type|anxd|spondylometaepiphyseal dysplasia, anauxetic type|spondylometaepiphyseal dysplasia, menger type|anauxetic dysplasia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ANAUXETIC DYSPLASIA 1; ANXD1

Low match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1


Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Low match SINGLETON-MERTEN DYSPLASIA


Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).

SINGLETON-MERTEN DYSPLASIA Is also known as singleton-merten syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SINGLETON-MERTEN DYSPLASIA

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Other less relevant matches:

Low match HOLT-ORAM SYNDROME; HOS


Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion. The typical combination is considered to be a triphalangeal thumb with a secundum atrial septal defect (ASD), but there is a great range in the severity of both the heart and skeletal lesions (summary by Hurst et al., 1991).

HOLT-ORAM SYNDROME; HOS Is also known as atriodigital dysplasia|heart-hand syndrome|hos1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about HOLT-ORAM SYNDROME; HOS

Low match NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Low match TAKAYASU ARTERITIS


Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.

TAKAYASU ARTERITIS Is also known as young female arteritis|aortic arch syndrome|pulseless disease

Related symptoms:

  • Seizures
  • Muscle weakness
  • Anemia
  • Hypertension
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about TAKAYASU ARTERITIS

Low match GALACTOSIALIDOSIS


Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.

GALACTOSIALIDOSIS Is also known as ppca deficiency|lysosomal protective protein deficiency|goldberg syndrome|ngbe|cathepsin a deficiency|protective protein/cathepsin a deficiency|neuraminidase/beta-galactosidase expression|neuraminidase deficiency with beta-galactosidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GALACTOSIALIDOSIS

Low 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

Low match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Aortic regurgitation Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Depressed nasal bridge Abnormal facial shape Edema Arthralgia Thrombocytopenia Growth delay Congestive heart failure Hepatosplenomegaly Respiratory distress Hypertelorism Ptosis Hernia Hearing impairment Pectus excavatum Arrhythmia Cognitive impairment Inguinal hernia Osteoporosis Joint laxity Pulmonic stenosis Dilatation Failure to thrive Broad forehead Fatigue Frontal bossing Seizures Diarrhea

Rare Symptoms - Less than 30% cases


Vomiting Heart block Vascular tortuosity Generalized hypotonia Abnormal vertebral morphology Ventricular septal defect Atrial septal defect Atrial fibrillation Abnormal heart morphology Epistaxis Visual loss Muscle weakness Mitral valve prolapse Muscular hypotonia Abnormality of the cardiovascular system Psoriasiform dermatitis Corneal opacity Bruising susceptibility Nausea Abnormality of cardiovascular system morphology Cardiomegaly Atrioventricular block Bradycardia Subcutaneous nodule Fever Hyperhidrosis Myalgia Arthritis Hypertrophic cardiomyopathy Chest pain Myocardial infarction Anorexia Delayed puberty Angiokeratoma Abnormal heart valve morphology Conjunctival telangiectasia Abnormal aortic valve morphology Abnormal endocardium morphology Coarse facial features Abnormality of the nervous system Arteritis Vasculitis Arterial stenosis Posteriorly rotated ears Bundle branch block Low-set ears Optic atrophy Downslanted palpebral fissures Anteverted nares Cardiomyopathy Long philtrum Prominent forehead Hydrops fetalis Polyhydramnios Sparse hair Thick vermilion border Ascites Fine hair Mitral regurgitation Lymphedema Ascending tubular aorta aneurysm Abnormality of the kidney Respiratory insufficiency Recurrent respiratory infections Midface retrusion Emphysema Short neck Hip dislocation Mandibular prognathia Progressive sensorineural hearing impairment Shallow acetabular fossae Cryptorchidism Microcephaly Sensorineural hearing impairment Neoplasm Hypothyroidism Peripheral pulmonary artery stenosis Trichorrhexis nodosa Abnormal thrombocyte morphology Increased mean platelet volume Intermittent diarrhea Coronary artery stenosis Intractable diarrhea Abnormality of the pancreas Abnormality of femur morphology Villous atrophy Secretory diarrhea Large forehead Woolly hair Concentric hypertrophic cardiomyopathy Mucosal telangiectasiae Thrombocytosis Underdeveloped supraorbital ridges Unexplained fevers ST segment depression Iron deficiency anemia Functional abnormality of the gastrointestinal tract Curly hair Abnormality of the immune system Shortened PR interval Humoral immunodeficiency Hypergalactosemia Impaired temperature sensation Decreased glomerular filtration rate Dyspnea Hyperkeratosis Abdominal pain Constipation Depressivity Distal renal tubular acidosis Increased blood urea nitrogen Headache Reduced sperm motility Obstructive lung disease Renal insufficiency Behavioral abnormality Hyposthenuria Increased serum iron Shortened QT interval Angiokeratoma corporis diffusum Peripheral neuropathy Cataract Pain Abnormalities of placenta or umbilical cord Large placenta Abnormality of iron homeostasis Decreased lacrimation Galactosuria Hypoalbuminemia Hypermethioninemia Renal cortical microcysts Brittle hair Hepatic fibrosis Recurrent upper respiratory tract infections Vacuolated lymphocytes Wide nasal bridge Tenesmus Heavy proteinuria Acroparesthesia Hepatomegaly Decreased beta-galactosidase activity Abnormal common carotid artery morphology Cherry red spot of the macula Arthralgia of the hip Abnormal ST segment Increased carotid artery intimal medial thickness Increased glomerular filtration rate Mucopolysacchariduria Hemophagocytosis Tortuosity of conjunctival vessels Visceromegaly Foam cells Abnormality of the common coagulation pathway Nonimmune hydrops fetalis Dysostosis multiplex Abnormality of the vertebral column Spondyloepiphyseal dysplasia Hemangioma Opacification of the corneal stroma Telangiectasia Progressive neurologic deterioration Abnormal glomerular filtration rate Inability to walk Left ventricular septal hypertrophy Hyperkeratotic papule Leukopenia Impaired renal concentrating ability Abnormality of the hair Carcinoma Chronic diarrhea Depressed nasal ridge Pancytopenia Tetralogy of Fallot Aciduria Premature birth Bifid uvula Sepsis Wide nose Hepatic failure Cirrhosis Dry skin Intrauterine growth retardation Abnormality of glycosphingolipid metabolism Small for gestational age Microtia Abnormality of the liver Wide mouth Abnormality of the forehead Respiratory tract infection Abnormality of the pinna Elevated hepatic transaminase Jaundice Proptosis Narrow mouth Immunodeficiency Nephrogenic diabetes insipidus Stroke Anxiety Loss of consciousness Renal tubular acidosis Glycosuria T-wave inversion Glomerulopathy Miosis Telangiectasia of the skin Celiac disease Orthostatic hypotension Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Coronary artery atherosclerosis Impotence Anhidrosis Aortic root aneurysm Polyuria Diabetes insipidus Tricuspid regurgitation Impaired vibratory sensation Clubbing Heart murmur Personality changes Polydipsia Glomerulosclerosis Hemiplegia Abnormal renal physiology Abnormality of the hand Prominent supraorbital ridges Wheezing Abnormality of lipid metabolism Tubulointerstitial fibrosis Reduced ejection fraction Abnormality of the nose Restrictive cardiomyopathy Myocardial fibrosis Abnormal myocardium morphology Sinus bradycardia Achalasia Chronic obstructive pulmonary disease Angina pectoris Clubbing of fingers High-frequency hearing impairment Asymmetric septal hypertrophy Abnormal mitral valve morphology Peripheral arterial stenosis Heat intolerance Gastrointestinal dysmotility Supraventricular tachycardia Large earlobe Periorbital fullness Oligospermia Abnormality of the gastrointestinal tract Tubular atrophy Elevated serum creatinine Tubulointerstitial nephritis Edema of the lower limbs Renal tubular dysfunction Transient ischemic attack Xerostomia Abnormal EKG Chronic pain Abnormal thrombosis Proteinuria Bulbous nose Palpitations Thick lower lip vermilion Ventricular hypertrophy Nephrotic syndrome Hypotension Urinary incontinence Syncope Sudden cardiac death Abdominal distention Muscle cramps Nephropathy Hematuria Thick eyebrow Tachycardia Left ventricular hypertrophy Stage 5 chronic kidney disease Vertigo Paresthesia Nausea and vomiting Malabsorption Abnormality of the cerebral white matter Pruritus Papule Prominent nasal bridge Cough Chronic fatigue Skin rash Developmental regression Abnormal lung morphology Abnormality of temperature regulation Chronic kidney disease Decreased female libido Abnormality of the renal tubule Abnormal cornea morphology Dysesthesia Supraventricular arrhythmia Easy fatigability Microalbuminuria Primary hypothyroidism Tinnitus Ventricular arrhythmia Biventricular hypertrophy Reduced bone mineral density Abnormality of cardiovascular system physiology Ischemic stroke Vascular skin abnormality Hypohidrosis Retinal vascular tortuosity Progressive hearing impairment Corneal crystals Abnormal intestine morphology Ventricular tachycardia Limb pain Hyperlipidemia Purpura Aminoaciduria Exercise intolerance Spontaneous abortion Abnormal autonomic nervous system physiology Fasciculations Corneal dystrophy Abnormality of the spleen Mental deterioration Thin upper lip vermilion Epiphora Scaling skin Osteolysis Coxa valga Decreased body weight Cutaneous photosensitivity Waddling gait Generalized muscle weakness Hypoplasia of the maxilla Smooth philtrum Genu valgum Carious teeth Osteopenia High anterior hairline Glaucoma Pes cavus Recurrent infections Abnormality of the dentition Talipes equinovarus Skeletal muscle atrophy Myopia Renal diverticulum Bowel diverticulosis Arterial fibromuscular dysplasia Supravalvular aortic stenosis Congenital hemolytic anemia Dermal translucency Periodontitis Osteolytic defects of the phalanges of the hand Bladder diverticulum Expanded phalanges with widened medullary cavities Horseshoe kidney Short thumb Coarctation of aorta Gastrointestinal hemorrhage Asthma Abnormal cardiac septum morphology Polydactyly Patent ductus arteriosus Clinodactyly Syndactyly Abnormality of the skeletal system Cleft palate Micrognathia Expanded metacarpals with widened medullary cavities Onycholysis Hypoplastic distal radial epiphyses Expanded metatarsals with widened medullary cavities Aortic arch calcification Hypoplasia of the tooth germ Tendon rupture Dentinogenesis imperfecta limited to primary teeth Unerupted tooth Premature loss of permanent teeth Mitral valve calcification Hip subluxation Aortic valve calcification Muscle fiber atrophy Subvalvular aortic stenosis Ileus Cor pulmonale Eosinophilia Elbow flexion contracture Delayed ossification of carpal bones Small epiphyses Hypoplastic ilia Ovoid vertebral bodies Thoracic kyphosis Metaphyseal dysplasia Disproportionate short stature Short finger Flared metaphysis Rocker bottom foot Metaphyseal irregularity Metaphyseal widening Short toe J-shaped sella turcica Rhizomelia Lumbar hyperlordosis Hypotelorism Tetraplegia Hypodontia Hypotrichosis Platyspondyly Hyperlordosis Kyphoscoliosis Kyphosis Intellectual disability, mild Brachydactyly Flexion contracture Hypoplasia of the capital femoral epiphysis Atlantoaxial dislocation Atelectasis Bilateral sensorineural hearing impairment Premature skin wrinkling Pulmonary artery stenosis Shawl scrotum Prematurely aged appearance Delayed cranial suture closure Epiphyseal dysplasia Aortic aneurysm Redundant skin Shock Cutis laxa Wormian bones Abnormality of the face Recurrent urinary tract infections Congenital diaphragmatic hernia Broad phalanx Oligohydramnios Overgrowth Vesicoureteral reflux Full cheeks Recurrent fractures Hemolytic anemia Arachnodactyly Joint hyperflexibility Umbilical hernia Hypospadias Hypoplastic iliac body Cervical subluxation Cervical cord compression Finger clinodactyly Hypoplasia of the radius Skeletal dysplasia Pleural effusion Hypochromic microcytic anemia B-cell lymphoma Short attention span Hydrocele testis Facial hypotonia Abnormal eyebrow morphology Neurodevelopmental delay Decreased muscle mass Proximal placement of thumb Overfolded helix Cubitus valgus Abnormality of the thorax Bilateral ptosis Prominent fingertip pads Failure to thrive in infancy Cholelithiasis Poor suck Deep philtrum Bicuspid aortic valve Torticollis Bilateral single transverse palmar creases Cafe-au-lait spot Hyperpigmentation of the skin Low posterior hairline Cyanosis Hip dysplasia Wide intermamillary distance Chylothorax Broad toe Webbed neck Skin ulcer Myoclonus Severe short stature Ataxia Increased inflammatory response Hypertensive crisis Gastrointestinal infarctions Amaurosis fugax Abnormal pattern of respiration Inflammatory abnormality of the eye Reduced consciousness/confusion Cerebral ischemia Gangrene Hemoptysis Pulmonary arterial hypertension Monocytosis Migraine Neurological speech impairment Retinopathy Weight loss Abnormality of the subarachnoid space Reduced factor X activity Reduced prothrombin activity Juvenile myelomonocytic leukemia Reduced factor XII activity Hypoplasia of olfactory tract Reduced factor IX activity Abnormality of the mediastinum Pulmonary lymphangiectasia Esotropia Lymphoma Triphalangeal thumb Truncus arteriosus Partial duplication of thumb phalanx Abnormality of the carpal bones Small thenar eminence Hematemesis Total anomalous pulmonary venous return Phocomelia Anomalous pulmonary venous return Complete atrioventricular canal defect Ecchymosis Allergy Secundum atrial septal defect Down-sloping shoulders Short clavicles Short digit Thoracic scoliosis Absent radius Oligodactyly Short humerus Atrioventricular canal defect Absent thumb Limited elbow extension Petechiae Hypoplastic left heart Right bundle branch block Menorrhagia Hypoplasia of the ulna Bowing of the legs Aplasia of the ulna Mesoaxial polydactyly Abnormal bleeding High forehead Triangular face Highly arched eyebrow Falls Joint hypermobility Astigmatism Abnormality of the foot Hypermetropia Leukemia Pectus carinatum Postnatal growth retardation Feeding difficulties in infancy Low-set, posteriorly rotated ears Macrotia Gastroesophageal reflux Aplasia of the pectoralis major muscle Splenomegaly Myopathy Gait disturbance Macrocephaly Epicanthus Motor delay Delayed speech and language development Feeding difficulties Strabismus Quadricuspid aortic valve Patellar subluxation Lactose intolerance Tibial torsion Cornea verticillata



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