Anemia, and Bulbous nose

Diseases related with Anemia and Bulbous nose

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


Top matches:

Medium match CERNUNNOS-XLF DEFICIENCY


Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.

CERNUNNOS-XLF DEFICIENCY Is also known as combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome|cernunnos xlfd|nhej1 deficiency|scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with microcephaly, growth retardation, and

Related symptoms:

  • Microcephaly
  • Growth delay
  • Anemia
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CERNUNNOS-XLF DEFICIENCY

Medium match FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP


Fanconi anemia of complementation group P is an autosomal recessive disorder characterized by increased chromosomal instability and progressive bone marrow failure. Some patients have skeletal anomalies (summary by Kim et al., 2011).For a general description and a discussion of genetic heterogeneity of Fanconi anemia (FA), see {227650}.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


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

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Other less relevant matches:

Low match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Low match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

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 LATHOSTEROLOSIS


Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.

LATHOSTEROLOSIS Is also known as sc5d deficiency|sterol c5-desaturase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LATHOSTEROLOSIS

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

Low match BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR


Related symptoms:

  • Hypertelorism
  • Abnormality of the kidney
  • Short philtrum
  • Bulbous nose
  • Renal agenesis


SOURCES: OMIM MENDELIAN

More info about BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR

Low match HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME


Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, Cantù type (see these terms).

HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME Is also known as haff|hypertrichosis-coarse face syndrome|hypertrichosis-acromegaloid facial features syndrome

Related symptoms:

  • Intellectual disability
  • Coarse facial features
  • Blepharophimosis
  • Joint hyperflexibility
  • Bulbous nose


SOURCES: ORPHANET MENDELIAN

More info about HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME

Top 5 symptoms//phenotypes associated to Anemia and Bulbous nose

Symptoms // Phenotype % cases
Thrombocytopenia Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Abnormality of the kidney Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Bulbous nose. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Seizures Cognitive impairment Autoimmunity Blepharophimosis Immunodeficiency Abnormal facial shape Hypothyroidism Recurrent infections Growth delay Fever Myelomeningocele Meningocele Vitiligo Behavioral abnormality Posteriorly rotated ears Short neck Purpura Scoliosis Renal agenesis Arthritis Retinal vascular tortuosity Specific learning disability Arnold-Chiari malformation Global developmental delay Abnormality of the hand Cataract High palate Micrognathia Hypertension

Rare Symptoms - Less than 30% cases


Abnormality of the pinna Low posterior hairline Primary amenorrhea Tetralogy of Fallot Hemolytic anemia Renal dysplasia Bifid uvula Chorea Amenorrhea Patent ductus arteriosus Anxiety Hypoplasia of the corpus callosum Transient ischemic attack Generalized hypotonia Muscular hypotonia Cleft palate Delayed speech and language development Ventricular septal defect Hydrocephalus Conductive hearing impairment Atrial septal defect Abnormality of cardiovascular system morphology Obesity Depressivity Abnormal heart morphology Inguinal hernia Retrognathia Spina bifida Autoimmune hemolytic anemia Hypocalcemia Right aortic arch with mirror image branching Right aortic arch Impaired T cell function Duodenal stenosis Conotruncal defect Aplasia of the thymus Arteria lusoria Sacral meningocele Interrupted aortic arch Hypertelorism Neoplasm Ptosis Short philtrum Vascular tortuosity Coarse facial features Thick vermilion border Perimembranous ventricular septal defect Graves disease Bicuspid aortic valve Inflammation of the large intestine Schizophrenia Nasal speech Cholelithiasis Rheumatoid arthritis Psoriasiform dermatitis Unilateral renal agenesis Acne Emphysema Aplasia of the uterus Autoimmune thrombocytopenia Posterior embryotoxon Bipolar affective disorder Hypoparathyroidism Truncus arteriosus Juvenile rheumatoid arthritis Seborrheic dermatitis Glomerulopathy Umbilical hernia Lymphopenia Headache Diarrhea Congestive heart failure Astigmatism Malabsorption Carcinoma Renal insufficiency Dementia Vomiting Abnormal lung morphology Sloping forehead Proteinuria Opacification of the corneal stroma Developmental regression Corneal opacity Hyperlipidemia Reduced bone mineral density Stroke Nephrotic syndrome Glomerulosclerosis Short palpebral fissure Cerebellar atrophy Chronic kidney disease Gingival overgrowth Nephropathy Cardiomyopathy Intrauterine growth retardation Stage 5 chronic kidney disease Bone marrow hypocellularity Horseshoe kidney Generalized hirsutism Tubulointerstitial nephritis Elevated serum creatinine Peripheral arterial stenosis Reduced ejection fraction Everted lower lip vermilion Tubular atrophy Abnormality of the gastrointestinal tract Heat intolerance Oligospermia Supraventricular tachycardia Large earlobe Hepatosplenomegaly Joint hyperflexibility Abnormality of the nose Abnormality of cholesterol metabolism Schistocytosis Severe generalized osteoporosis Foam cells with lamellar inclusion bodies High-frequency hearing impairment Abnormal myocardium morphology Bilobate gallbladder Lumbosacral meningocele Restrictive cardiomyopathy Abnormality of the thoracic spine Abnormality of femur morphology Rectal atresia Overlapping toe Chronic fatigue Anteriorly placed anus Myocardial fibrosis Sinus bradycardia Achalasia Edema of the lower limbs Rectovaginal fistula Bifid nose Angina pectoris Clubbing of fingers Chronic obstructive pulmonary disease Aortic root aneurysm Renal tubular dysfunction Bradycardia Ischemic stroke Corneal dystrophy Progressive hearing impairment Abnormal intestine morphology Aortic regurgitation Ventricular tachycardia Palpebral edema Aminoaciduria Exercise intolerance Spontaneous abortion Abnormal autonomic nervous system physiology Fasciculations Lymphedema Tinnitus Hypohidrosis Anorexia Left ventricular hypertrophy Subcutaneous nodule Mitral regurgitation Palpitations Myocardial infarction Atrial fibrillation Thick lower lip vermilion Furrowed tongue Ventricular hypertrophy Mitral valve prolapse Abnormality of the cardiovascular system Ventricular arrhythmia Easy fatigability Xerostomia Coronary artery atherosclerosis Abnormal EKG Abnormality of lipid metabolism Abnormal mitral valve morphology Wheezing Renal tubular acidosis Glycosuria Abnormal heart valve morphology Telangiectasia of the skin Celiac disease Orthostatic hypotension Progressive sensorineural hearing impairment Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Impotence Atrioventricular block Bundle branch block Loss of consciousness Anhidrosis Polyuria Diabetes insipidus Tricuspid regurgitation Impaired vibratory sensation Clubbing Heart murmur Personality changes Polydipsia Hemiplegia Prominent supraorbital ridges Asymmetric septal hypertrophy Abnormal renal physiology Periorbital fullness Decreased lacrimation Abnormality of the forehead Abnormality of glycosphingolipid metabolism Impaired renal concentrating ability Functional abnormality of the gastrointestinal tract ST segment depression Unexplained fevers Mucosal telangiectasiae Concentric hypertrophic cardiomyopathy Coronary artery stenosis Shortened PR interval Angiokeratoma corporis diffusum Tortuosity of conjunctival vessels Abnormality of the liver Toe syndactyly Talipes Thin vermilion border Hepatic failure Postaxial polydactyly Downturned corners of mouth Shortened QT interval Microcornea Full cheeks Hyposthenuria Hyperkeratotic papule Left ventricular septal hypertrophy Obstructive lung disease Wide nasal bridge Osteoporosis Myoclonus Cerebral atrophy Syndactyly Long philtrum Short nose Anteverted nares Talipes equinovarus Downslanted palpebral fissures Elevated hepatic transaminase Hepatomegaly Tenesmus Epicanthus Failure to thrive Cornea verticillata Abnormal glomerular filtration rate Abnormality of the common coagulation pathway Increased glomerular filtration rate Increased carotid artery intimal medial thickness Abnormal ST segment Abnormal common carotid artery morphology Acroparesthesia Heavy proteinuria Impaired temperature sensation Cerebral calcification Abnormal platelet morphology Abnormality of the renal tubule Microalbuminuria Thick upper lip vermilion Acanthocytosis Generalized osteoporosis Conjunctival telangiectasia Ambiguous genitalia, male Butterfly vertebrae Supraventricular arrhythmia Dysesthesia Abnormal cornea morphology Abnormal thrombosis Biventricular hypertrophy Tubulointerstitial fibrosis Chronic pain Polydactyly Miosis Increased mean platelet volume Neural tube defect T-wave inversion Anisopoikilocytosis Abnormal aortic valve morphology Gastrointestinal dysmotility Cerebellar cortical atrophy Primary hypothyroidism Intrahepatic cholestasis Postaxial hand polydactyly Distal renal tubular acidosis Narrow forehead Hypoplasia of penis Cholestasis Angiokeratoma Urinary incontinence Hyperbilirubinemia Elevated alkaline phosphatase Portal hypertension Reduced sperm motility Increased blood urea nitrogen Bilateral talipes equinovarus Decreased glomerular filtration rate Abnormal endocardium morphology Nephrogenic diabetes insipidus Abnormality of temperature regulation Pathologic fracture Limb pain Corneal crystals Biparietal narrowing Vascular skin abnormality Prominent metopic ridge Decreased female libido Abnormality of cardiovascular system physiology Postaxial foot polydactyly Hypotension Attention deficit hyperactivity disorder Syncope Thoracic kyphosis Cellular immunodeficiency Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Ovoid vertebral bodies Abnormality of the vasculature Arteriosclerosis Protuberant abdomen Multiple cafe-au-lait spots Steatorrhea Hypermelanotic macule Combined immunodeficiency High pitched voice Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Melanocytic nevus Nephritis Right ventricular cardiomyopathy Hypoplasia of the capital femoral epiphysis Epiphyseal dysplasia Intellectual disability, severe Dysmetria Anal atresia Pulmonic stenosis Congenital cataract Mental deterioration Aggressive behavior Hyperactivity Hypospadias Hernia Absent speech Lateral displacement of the femoral head Mucopolysacchariduria 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 Multiple lentigines Glomerulonephritis Encephalitis Underdeveloped nasal alae Short thumb Abnormality of the dentition Myopia Motor delay Depressed nasal bridge Squamous cell carcinoma of the tongue Pelvic kidney Absent radius Absent thumb Squamous cell carcinoma Hypoplasia of the radius Cafe-au-lait spot Pneumonia Pancytopenia Hypopigmentation of the skin Abnormality of the skeletal system Cryptorchidism Bird-like facies B lymphocytopenia Decrease in T cell count Recurrent viral infections Recurrent bacterial infections Convex nasal ridge Decreased antibody level in blood Kyphosis Osteopenia Coarse hair Waddling gait Azoospermia Atherosclerosis Abnormality of epiphysis morphology Heterotopia Abnormal form of the vertebral bodies Fine hair Intellectual disability, profound Lumbar hyperlordosis Microdontia Decreased testicular size Lymphoma Thin upper lip vermilion Premature birth Migraine Brain atrophy Gliosis Abnormal cerebellum morphology Neutropenia Abnormality of skin pigmentation Platyspondyly Hip dislocation Scarring Hyperlordosis Vesicoureteral reflux Peripheral demyelination Sudden cardiac death Type I truncus arteriosus Arrhythmia Midface retrusion Dilatation Edema Respiratory insufficiency Fatigue Optic atrophy Peripheral neuropathy Pain Sensorineural hearing impairment Parathyroid agenesis Hyperhidrosis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Esophoria Abnormality of the thymus Abnormality of the middle ear Perisylvian polymicrogyria Alcoholism Femoral hernia Hypoplasia of the thymus Anterior segment developmental abnormality Constipation Abdominal pain Sclerocornea Nausea and vomiting Chest pain Abdominal distention Muscle cramps Hematuria Thick eyebrow Tachycardia Nausea Vertigo Paresthesia Delayed puberty Abnormality of the cerebral white matter Hyperkeratosis Pruritus Papule Prominent nasal bridge Cough Skin rash Hypertrophic cardiomyopathy Abnormality of the nervous system Myalgia Arthralgia Mandibular prognathia Dyspnea Tetany Exotropia Psychosis Axonal loss Mood swings Platybasia Pulmonary artery atresia Abnormality of the endocrine system Echolalia Pierre-Robin sequence Delusions Hearing abnormality Anal stenosis Submucous cleft hard palate Basal ganglia calcification Giant platelets Abnormality of the ear Myopathic facies Hypoplasia of the brainstem Obsessive-compulsive behavior Apathy Dysdiadochokinesis Holoprosencephaly Narrow palpebral fissure Multicystic kidney dysplasia Hallucinations Open mouth Paranoia Velopharyngeal insufficiency Amblyopia Hydronephrosis Broad thumb Coarctation of aorta High, narrow palate Iris coloboma Polymicrogyria Generalized tonic-clonic seizures Microtia Craniosynostosis Cleft lip Telecanthus Narrow mouth Psychotic episodes Microphthalmia Hypertonia Flexion contracture Low-set ears Strabismus Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Oral synechia



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