Anemia, and Polyhydramnios

Diseases related with Anemia and Polyhydramnios

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


Top matches:

Medium match PANCYTOPENIA DUE TO IKZF1 MUTATIONS


Pancytopenia due to IKZF1 mutations is a rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.

PANCYTOPENIA DUE TO IKZF1 MUTATIONS Is also known as cid due to ikaros deficiency|combined immunodeficiency due to ikaros deficiency

Related symptoms:

  • Anemia
  • Edema
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PANCYTOPENIA DUE TO IKZF1 MUTATIONS

Medium match HB BART'S HYDROPS FETALIS


Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.

HB BART'S HYDROPS FETALIS Is also known as alpha-thalassemia major|alpha-thalassemia hydrops fetalis|homozygous alpha0-thalassemia|hemoglobin bart's hydrops fetalis

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Hydrocephalus
  • Congestive heart failure
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about HB BART'S HYDROPS FETALIS

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 COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM


COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM Is also known as cid-mia/early-onset ibd

Related symptoms:

  • Intrauterine growth retardation
  • Ventricular septal defect
  • Immunodeficiency
  • Polyhydramnios
  • Sparse hair


SOURCES: ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM

Medium match LYMPHEDEMA, HEREDITARY, III; LMPH3


Hereditary lymphedema III is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPH3, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema but childhood onset of lymphedema with or without systemic involvement. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015).

LYMPHEDEMA, HEREDITARY, III; LMPH3 Is also known as generalized lymphatic dysplasia of fotiou

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about LYMPHEDEMA, HEREDITARY, III; LMPH3

Medium match MULTIPLE INTESTINAL ATRESIA


Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.

MULTIPLE INTESTINAL ATRESIA Is also known as intestinal atresia, multiple|minat|intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency|fipa|familial intestinal polyatresia syndrome

Related symptoms:

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Abnormality of the skeletal system
  • Ventricular septal defect


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MULTIPLE INTESTINAL ATRESIA

Medium match DIAMOND-BLACKFAN ANEMIA 7; DBA7


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 7; DBA7

Medium match PERINATAL LETHAL HYPOPHOSPHATASIA


Perinatal lethal hypophosphatasia (PL-HPP) is a very rare form of hypophosphatasia (see this term) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.

PERINATAL LETHAL HYPOPHOSPHATASIA Is also known as hops|perinatal lethal rathburn disease|phosphoethanolaminuria|perinatal lethal phosphoethanolaminuria

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERINATAL LETHAL HYPOPHOSPHATASIA

Medium match COG6-CGD


CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).For a general discussion of CDGs, see CDG1A (OMIM ) and CDG2A (OMIM ).

COG6-CGD Is also known as congenital disorder of glycosylation type 2l|cdg syndrome type iil|cdg-iil|cdg2l|congenital disorder of glycosylation type iil|cdgiil|cdg iil

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about COG6-CGD

Medium match VACTERL WITH HYDROCEPHALUS


VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.

VACTERL WITH HYDROCEPHALUS Is also known as vacterl-h|sujansky-leonard syndrome

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VACTERL WITH HYDROCEPHALUS

Top 5 symptoms//phenotypes associated to Anemia and Polyhydramnios

Symptoms // Phenotype % cases
Intrauterine growth retardation Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Lymphopenia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Decreased antibody level in blood Ventricular septal defect Recurrent infections Growth delay

Rare Symptoms - Less than 30% cases


Severe combined immunodeficiency Jejunoileal ulceration Rectal abscess Bloody diarrhea Ectopic calcification Intestinal atresia Hypoplasia of the thymus Absent eyebrow Alopecia of scalp Hashimoto thyroiditis Autoimmune hemolytic anemia Congenital cystic adenomatoid malformation of the lung Psoriasiform dermatitis Type I diabetes mellitus Thickened skin Omphalocele Hepatitis Intestinal malrotation Gastrointestinal atresia Hearing impairment Peritoneal abscess Inflammation of the large intestine Vomiting Microcephaly Generalized hypotonia Intellectual disability Edema Cleft palate Retrognathia Combined immunodeficiency Abnormal intestine morphology Abnormality of the ductus choledochus Anal atresia Diarrhea Abnormality of the skeletal system Hemolytic anemia Fever Epicanthus Scoliosis Nail dystrophy Global developmental delay Abdominal distention Micrognathia Autoimmunity Abnormality of the outer ear Sparse hair Splenomegaly Hydrocephalus Hepatomegaly Respiratory failure Sepsis Pancytopenia Hydrops fetalis Thrombocytopenia Abnormality of the voice Femoral hernia Ventriculomegaly Hypoplasia of the corpus callosum Cerebellar atrophy Arrhinencephaly Cerebral atrophy Hyperhidrosis Cerebral cortical atrophy Polydactyly Hyperkeratosis Hepatosplenomegaly Abnormal facial shape Elevated hepatic transaminase Neonatal hypotonia Increased susceptibility to fractures Disproportionate short-limb short stature Anotia Nephrocalcinosis Aggressive behavior Muscular hypotonia of the trunk Short ribs Talipes equinovarus Radial club hand Rickets Vertebral clefting Abnormality of the fallopian tube Hypercalcemia Bowing of the legs Premature loss of teeth Hyperphosphatemia Metaphyseal cupping Intracranial hemorrhage Skin dimples Short lower limbs Widely patent fontanelles and sutures Absence of the sacrum Hypercalciuria Decreased calvarial ossification Rachitic rosary Low alkaline phosphatase Unossified vertebral bodies Abnormality of the liver Elevated urine pyrophosphate Elevated plasma pyrophosphate Phosphoethanolaminuria Skin dimple over apex of long bone angulation Abnormal cardiac septum morphology Aqueductal stenosis Encephalocele Absent thumb Cryptorchidism Tracheoesophageal fistula Respiratory insufficiency Anophthalmia Hypoplasia of the radius Renal hypoplasia/aplasia Hemivertebrae Spina bifida Abnormal vertebral morphology Abnormal form of the vertebral bodies Anorexia Renal hypoplasia Renal agenesis Microcornea Pulmonary hypoplasia Hip dislocation Abnormality of the kidney Inguinal hernia Abnormal heart morphology Hypospadias Abnormality of cardiovascular system morphology Microphthalmia Abnormality of the vertebral column Occipital encephalocele Abnormality of the optic nerve Hypohidrosis Arthrogryposis multiplex congenita Malabsorption Cirrhosis Postaxial polydactyly Hepatic steatosis Abnormal bleeding Focal-onset seizure Hip dysplasia Decreased fetal movement Cholestasis Chronic diarrhea Hyperbilirubinemia Esophageal atresia Loss of consciousness Neurodevelopmental delay Abnormal cortical gyration Proximal tubulopathy Impaired T cell function Micronodular cirrhosis Single umbilical artery Macrovesicular hepatic steatosis Gastrointestinal inflammation Abnormal T cell morphology Type II transferrin isoform profile Bone pain Tetralogy of Fallot Blue sclerae Hypothyroidism Skin erosion Oral mucosal blisters Ureterocele Abnormality of the stomach Aplasia of the bladder Congenital pyloric atresia Recurrent abscess formation Short stature Atrial septal defect Pectus excavatum Gastroesophageal reflux Fragile skin Ascites Webbed neck Lymphedema Cupped ear Pericardial effusion Cellulitis Deep venous thrombosis Hydrocele testis Varicose veins Nonimmune hydrops fetalis Aplasia cutis congenita Skin vesicle Spherocytosis Abnormal hemoglobin Leukemia Aspiration Recurrent bacterial infections Acute lymphoblastic leukemia B lymphocytopenia Congestive heart failure Pallor Oligohydramnios Pericarditis Preeclampsia Flexion contracture Glomerulosclerosis Dysphagia Short nose Deeply set eye Hydronephrosis Microtia Limitation of joint mobility Premature birth Underdeveloped nasal alae Abnormal blistering of the skin Dehydration Renal dysplasia Generalized edema Periorbital edema Micromelia Vitamin D deficiency Atresia of the external auditory canal Triphalangeal thumb Macrocytic anemia Sprengel anomaly Recurrent lower respiratory tract infections Esophagitis Increased mean corpuscular volume Secundum atrial septal defect Reticulocytopenia Fetal distress Small hypothenar eminence Short thumb Uterine neoplasm Muscular hypotonia Pain Abnormality of the dentition Constipation Recurrent respiratory infections Apnea Irritability Craniosynostosis Platyspondyly Horseshoe kidney Choanal atresia Chylothorax Abnormality of abdomen morphology Stomatocytosis Intestinal lymphangiectasia Facial edema Prune belly Pulmonary lymphangiectasia Genital edema Alopecia Scarring Small for gestational age Thyroiditis Hematochezia Recurrent otitis media Duodenal atresia Duodenal stenosis Microcolon Jejunal atresia Decreased proportion of CD8-positive T cells Neoplasm Patent ductus arteriosus Osteoporosis Osteopenia Neutropenia Vesicoureteral reflux Microtia, third degree



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Abnormality of eye movement, related diseases and genetic alterations Ventricular septal defect and Respiratory distress, related diseases and genetic alterations Brachydactyly and Thick lower lip vermilion, related diseases and genetic alterations Strabismus and Hypothyroidism, related diseases and genetic alterations Hypertelorism and Hepatitis, related diseases and genetic alterations

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