Anemia, and Hydronephrosis

Diseases related with Anemia and Hydronephrosis

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


Top matches:

Medium match THROMBOCYTOPENIA 2; THC2


Thrombocytopenia-2 is an autosomal dominant nonsyndromic disorder characterized by decreased numbers of normal platelets, resulting in a mild bleeding tendency. Laboratory studies show no defects in platelet function or morphology, and bone marrow examination shows normal numbers of megakaryocytes and normal maturation stages, suggesting defective platelet production or release (summary by Pippucci et al., 2011).

THROMBOCYTOPENIA 2; THC2 Is also known as thrombocytopenia, autosomal dominant, 2

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Hydronephrosis
  • Bruising susceptibility
  • Hematuria


SOURCES: OMIM MESH MENDELIAN

More info about THROMBOCYTOPENIA 2; THC2

Medium match FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Short stature
  • Neoplasm
  • Cryptorchidism
  • Anemia
  • Renal insufficiency


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO

Medium match EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA


Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.

EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA Is also known as ebs with pyloric atresia|ebs-pa

Related symptoms:

  • Failure to thrive
  • Anemia
  • Flexion contracture
  • Dysphagia
  • Short nose


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA

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Other less relevant matches:

Medium match FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL

Medium match TRANSALDOLASE DEFICIENCY


Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

Medium match MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN


Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

Medium match ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME


X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME Is also known as atr-x syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME

Medium match WOLFRAM SYNDROME 1; WFS1


Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and deafness (DIDMOAD). Additional clinical features may include renal abnormalities, ataxia, dementia or mental retardation, and diverse psychiatric illnesses. The minimal diagnostic criteria for Wolfram syndrome are optic atrophy and diabetes mellitus of juvenile onset. Hearing impairment in Wolfram syndrome is typically progressive and mainly affects the higher frequencies, but a small fraction of affected individuals have congenital deafness (summary by Rendtorff et al., 2011).Autosomal dominant mutations in the WFS1 gene have been found to cause low-frequency nonsyndromic deafness (OMIM ) as well as a Wolfram syndrome-like phenotype (OMIM ) in which affected individuals have hearing impairment with diabetes mellitus and/or optic atrophy. Genetic Heterogeneity of Wolfram SyndromeWolfram syndrome-2 (WFS2 ) is caused by mutation in the CISD2 gene (OMIM ) on chromosome 4q24.

WOLFRAM SYNDROME 1; WFS1 Is also known as diabetes insipidus and mellitus with optic atrophy and deafness|wfs|didmoad

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about WOLFRAM SYNDROME 1; WFS1

Medium match NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4


Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4

Medium match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Top 5 symptoms//phenotypes associated to Anemia and Hydronephrosis

Symptoms // Phenotype % cases
Growth delay Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Global developmental delay Hearing impairment Respiratory failure Failure to thrive Microcephaly Patent ductus arteriosus Anal atresia Midface retrusion Cryptorchidism Short neck Abnormal facial shape Intrauterine growth retardation Abnormal bleeding Depressed nasal bridge Neoplasm

Rare Symptoms - Less than 30% cases


Abnormality of chromosome stability Micrognathia Patent foramen ovale Cutis laxa Thin vermilion border Telangiectasia Asthma Synophrys Small for gestational age Abnormality of the kidney Hepatosplenomegaly Splenomegaly Hepatomegaly Atrial septal defect Lymphopenia Cataract Blindness Diarrhea Abnormality of the nervous system Neurodegeneration Ataxia Tented upper lip vermilion Abnormality of the face Recurrent urinary tract infections Pollakisuria Constipation Depressivity Behavioral abnormality Optic atrophy Talipes equinovarus Muscle weakness Seizures Respiratory insufficiency Severe sensorineural hearing impairment Pneumonia Recurrent respiratory infections Flat face Bronchiectasis Leukemia Clinodactyly of the 5th finger Clinodactyly Cafe-au-lait spot Deep philtrum Dehydration Sepsis Flexion contracture Renal dysplasia Hypoplasia of the radius Chromosome breakage Dysphagia Wide nasal bridge Bone marrow hypocellularity Hypertelorism Microtia Absent thumb Medulloblastoma Diffuse leukoencephalopathy Glioma Rhabdomyosarcoma Primary amenorrhea Abnormal hair quantity Gastric ulcer Abnormal glucose tolerance Sideroblastic anemia Decrease in T cell count Central sleep apnea Hypertension Impaired collagen-induced platelet aggregation Limited mobility of proximal interphalangeal joint High palate Central diabetes insipidus Recurrent sinopulmonary infections B-cell lymphoma Respiratory distress Kyphosis Recurrent infections Hernia Recurrent bronchitis Abnormal eyelid morphology Joint laxity Respiratory arrest Testicular atrophy Histiocytosis Apnea Hypergonadotropic hypogonadism Psychosis Penoscrotal hypospadias Pigmentary retinopathy Vesicoureteral reflux Dysgammaglobulinemia Aggressive behavior Leukoencephalopathy Malar prominence Anxiety Rigidity Mastoiditis Hypothyroidism Weight loss Type I diabetes mellitus Sleep apnea Pulmonic stenosis Atrophy/Degeneration affecting the brainstem B lymphocytopenia Stroke-like episode Neurogenic bladder Central apnea Megaloblastic anemia Dyschromatopsia Polyphagia Anosmia T-cell lymphoma Recurrent infection of the gastrointestinal tract Anorectal anomaly Blurred vision Hydroureter Diabetes insipidus Abnormality of the urinary system Pectus carinatum Renal agenesis Neutropenia Recurrent pneumonia Immunodeficiency Long nose Hypospadias Upslanted palpebral fissure Hyperactivity Non-midline cleft lip Macrotia Combined immunodeficiency Retrognathia Abnormality of neuronal migration Premature ovarian insufficiency Intellectual disability, moderate Mental deterioration Cachexia Low anterior hairline Cor triatriatum Abnormality of the hair Attention deficit hyperactivity disorder Sinusitis Prominent nasal bridge Cleft upper lip Hemolytic anemia Lymphoma Prominent nose Otitis media Convex nasal ridge Amenorrhea Chronic diarrhea Sloping forehead Cutaneous photosensitivity Skeletal muscle atrophy Neonatal sepsis Single transverse palmar crease Failure to thrive in infancy Tapered finger Choanal atresia Pulmonary arterial hypertension Sparse scalp hair Mitral regurgitation Broad thumb Acute leukemia Hearing abnormality Acute lymphoblastic leukemia Recurrent bacterial infections Plagiocephaly Leukopenia Anal stenosis Neuroblastoma Autoimmune hemolytic anemia Intermittent thrombocytopenia Hypoplasia of the thymus Freckling Hypogonadism Monocytosis Erythroid hypoplasia Congenital neutropenia Giant platelets Prominent superficial veins Abnormality of the musculature Varicose veins Premature loss of teeth Abnormality of lipid metabolism Iron deficiency anemia Long fingers Unilateral renal agenesis Diabetes mellitus Abnormality of movement Myoclonus Short philtrum Microphthalmia Micropenis Full cheeks Renal hypoplasia Tracheoesophageal fistula Esophageal atresia Depressed nasal tip Rectovaginal fistula Forearm undergrowth Hypoplastic sacrum Low-set ears Ventricular septal defect Edema Wide mouth Cirrhosis Congenital pyloric atresia Situs inversus totalis Micronodular cirrhosis Biventricular hypertrophy Premature skin wrinkling Dextrocardia Clitoral hypertrophy Poor suck Hydrops fetalis Triangular face Decreased liver function Wide anterior fontanel Hepatic fibrosis Pancytopenia Coarctation of aorta Oligohydramnios Hydrocephalus Aplasia of the bladder Infra-orbital crease Renal insufficiency Bilateral cryptorchidism Short thumb Renal cyst Stage 5 chronic kidney disease Abnormal heart morphology Abnormality of cardiovascular system morphology Increased mean platelet volume Cystic renal dysplasia Abnormal thrombocyte morphology Aplastic anemia Autoimmune thrombocytopenia Menorrhagia Hematuria Bruising susceptibility External genital hypoplasia Rectal atresia Abnormality of the stomach Glomerulosclerosis Ureterocele Oral mucosal blisters Skin erosion Aplasia cutis congenita Fragile skin Skin vesicle Abnormality of the outer ear Short nose Abnormal blistering of the skin Underdeveloped nasal alae Premature birth Limitation of joint mobility Deeply set eye Polyhydramnios Functional respiratory abnormality Abnormality of the clitoris Dementia Ambiguous genitalia Self-injurious behavior Encephalitis Aganglionic megacolon Depressed nasal ridge Thick lower lip vermilion Hypoplasia of penis Macroglossia Male pseudohermaphroditism Everted lower lip vermilion Nausea and vomiting Spastic paraplegia Joint stiffness Feeding difficulties in infancy Telecanthus Dysphasia Volvulus Autism Peripheral neuropathy Dilatation Cerebral atrophy Cardiomyopathy Fatigue Tremor Dysarthria Cognitive impairment Profound global developmental delay Ptosis Nystagmus Abnormality of the male genitalia Abnormality of fontanelles U-Shaped upper lip vermilion Abnormal hemoglobin Gastroesophageal reflux Cerebral cortical atrophy Increased serum bile acid concentration Pes planus Delayed eruption of teeth Joint hypermobility Talipes Broad forehead Conductive hearing impairment Thin upper lip vermilion Narrow mouth Esotropia Malar flattening Downslanted palpebral fissures Delayed speech and language development Strabismus Generalized hypotonia Abnormality of glutamine metabolism Bifid uvula Dental crowding Agenesis of corpus callosum Cleft hard palate Abnormality of the dentition Anteverted nares Myopia Brachydactyly Epicanthus Muscular hypotonia Mild conductive hearing impairment Finger clinodactyly Broad distal phalanx of finger Elliptocytosis Large forehead Mixed hearing impairment Hypercalciuria Nephrocalcinosis Progressive vitiligo



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Arthrogryposis multiplex congenita, related diseases and genetic alterations Delayed speech and language development and Cyanosis, related diseases and genetic alterations Tremor and Metabolic acidosis, related diseases and genetic alterations Cardiomyopathy and Leukodystrophy, related diseases and genetic alterations Nystagmus and Distal amyotrophy, related diseases and genetic alterations

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