Anemia, and Oligohydramnios

Diseases related with Anemia and Oligohydramnios

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


Top matches:

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 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA


Related symptoms:

  • Seizures
  • Anemia
  • Hypertension
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA

Medium match NEPHRONOPHTHISIS 3; NPHP3


NEPHRONOPHTHISIS 3; NPHP3 Is also known as nph3

Related symptoms:

  • Low-set ears
  • Anemia
  • Respiratory insufficiency
  • Renal insufficiency
  • Dilatation


SOURCES: OMIM MESH MENDELIAN

More info about NEPHRONOPHTHISIS 3; NPHP3

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Other less relevant matches:

Medium match NEPHRONOPHTHISIS 2; NPHP2


NEPHRONOPHTHISIS 2; NPHP2 Is also known as nph2

Related symptoms:

  • Global developmental delay
  • Anemia
  • Hypertension
  • Hepatomegaly
  • Respiratory insufficiency


SOURCES: OMIM MESH MENDELIAN

More info about NEPHRONOPHTHISIS 2; NPHP2

Medium match TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY


Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY

Medium match NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES; NEDBLLA


Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES; NEDBLLA

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 NIEMANN-PICK DISEASE, TYPE C1; NPC1


Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.

NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1

Medium 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

Medium match FETAL GAUCHER DISEASE


Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).

FETAL GAUCHER DISEASE Is also known as perinatal lethal gaucher disease|gaucher disease, collodion type

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FETAL GAUCHER DISEASE

Top 5 symptoms//phenotypes associated to Anemia and Oligohydramnios

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intrauterine growth retardation Ascites Thrombocytopenia Hypertension Generalized hypotonia Hyperreflexia Low-set ears Abnormality of the liver Congestive heart failure Abnormal facial shape Growth delay Muscular hypotonia Spasticity Situs inversus totalis Respiratory distress Hepatosplenomegaly Cirrhosis Dilatation Abnormality of the kidney Metabolic acidosis Decreased liver function Pancytopenia Jaundice Hydrops fetalis Edema

Rare Symptoms - Less than 30% cases


Hemolytic anemia Inguinal hernia Neuronal loss in central nervous system Hernia Premature skin wrinkling High palate Developmental regression Failure to thrive Neonatal hypotonia Congenital hemolytic anemia Triangular face Abnormal pyramidal sign Dysphagia Recurrent infections Poor suck Skeletal muscle atrophy Tremor Gait disturbance Abnormal bleeding Recurrent respiratory infections Dystonia Cutis laxa Intellectual disability Cerebral atrophy Microcephaly Abnormality of the face Intention tremor Polydipsia Ventricular septal defect Pallor Patent ductus arteriosus Arrhythmia Acidosis Polyhydramnios Progressive neurologic deterioration Extramedullary hematopoiesis Renal insufficiency Abnormal cardiac septum morphology Stage 5 chronic kidney disease Cholestasis Abnormality of eye movement Hepatic fibrosis Nephropathy Tubulointerstitial abnormality Polyuria Nephronophthisis Pulmonary hypoplasia Respiratory failure Joint laxity Elevated hepatic transaminase Hyperechogenic kidneys Depressed nasal bridge Progressive sensorineural hearing impairment Vascular tortuosity Wormian bones Shock Cor pulmonale Atelectasis Redundant skin Epiphyseal dysplasia Dermal translucency Aortic aneurysm Arterial stenosis Ascending tubular aorta aneurysm Emphysema Delayed cranial suture closure Pulmonary artery stenosis Ileus Shawl scrotum Prematurely aged appearance Bladder diverticulum Visceromegaly Recurrent urinary tract infections Sea-blue histiocytosis Sensorineural hearing impairment Hearing impairment Fatal liver failure in infancy Low cholesterol esterification rates Abnormal cholesterol homeostasis Foam cells in visceral organs and CNS Congenital thrombocytopenia Ptosis Fetal ascites Rapid neurologic deterioration Bone-marrow foam cells Supranuclear ophthalmoplegia Cataplexy Vertical supranuclear gaze palsy Aplasia/Hypoplasia of the abdominal wall musculature Cryptorchidism Hypospadias Bilateral sensorineural hearing impairment Joint hyperflexibility Congenital diaphragmatic hernia Overgrowth Vesicoureteral reflux Spastic dysarthria Full cheeks Recurrent fractures Arachnodactyly Foam cells Pectus excavatum Pulmonic stenosis Hip dislocation Arterial fibromuscular dysplasia Umbilical hernia Arthralgia Hypothyroidism Osteoporosis Supravalvular aortic stenosis High, narrow palate Bowel diverticulosis Congenital ichthyosiform erythroderma Congenital nonbullous ichthyosiform erythroderma Overlapping fingers Nonimmune hydrops fetalis Fetal akinesia sequence Cardiorespiratory arrest Distal arthrogryposis Hypokinesia Abnormality of the spleen Petechiae Opisthotonus Abnormality of coagulation Thoracic hypoplasia Multiple joint contractures Neonatal respiratory distress Akinesia Abnormality of the larynx Astrocytosis Pleural effusion Decreased beta-glucocerebrosidase protein and activity Enlarged fetal cisterna magna Abnormality of the microglia Hydropic placenta Low voltage EEG Abnormality of the small intestine Abnormal pupillary function Sudden episodic apnea Pneumothorax Desquamation of skin soon after birth Myocardial necrosis Hepatic necrosis Abnormality of the spinal cord Severe hydrops fetalis Generalized hyperkeratosis Everted upper lip vermilion Apathy Congenital contracture Renal diverticulum Short nose Apnea Low-set, posteriorly rotated ears Retrognathia Proptosis Narrow mouth Hyperkeratosis Hypertonia Abnormality of the pinna Anteverted nares Ventriculomegaly Talipes equinovarus Flexion contracture Strabismus Micrognathia Hypertelorism Camptodactyly Microtia Ectropion Cardiomegaly Intracranial hemorrhage Purpura Knee flexion contracture Thickened skin Open mouth Depressed nasal ridge Interphalangeal joint contracture of finger Decreased fetal movement Arthrogryposis multiplex congenita Cerebral calcification Underdeveloped nasal alae Premature birth Everted lower lip vermilion Head tremor Hepatic failure Ichthyosis Supranuclear gaze palsy Increased serum bile acid concentration Trismus Decreased nerve conduction velocity Myopathy Kyphosis Areflexia Hyporeflexia Babinski sign Hypertrophic cardiomyopathy Respiratory tract infection Limb muscle weakness Unsteady gait Dyskinesia Optic disc pallor Involuntary movements Progressive muscle weakness Respiratory insufficiency due to muscle weakness Cholelithiasis Fatigue Macrocytic anemia Abnormality of immune system physiology Diaphragmatic paralysis Normocytic anemia Cholecystitis Nonspherocytic hemolytic anemia Normochromic anemia Abnormal posturing Chronic hemolytic anemia Central nervous system degeneration Feeding difficulties Vomiting Gastroesophageal reflux Osteopenia Cardiomyopathy Peripheral neuropathy Deeply set eye Renal corticomedullary cysts Hydrocephalus Pericarditis Preeclampsia Abnormal hemoglobin EEG abnormality Lactic acidosis Pericardial effusion Sideroblastic anemia Rod-cone dystrophy Renal cyst Cone-shaped epiphysis Tubular atrophy Enuresis Tubulointerstitial fibrosis Aplasia of the bladder Motor delay Pulmonary insufficiency Muscle weakness Hyperkalemic metabolic acidosis Chronic tubulointerstitial nephritis Absence of renal corticomedullary differentiation Renal cortical microcysts Oliguria Portal fibrosis Polycystic kidney dysplasia Cholestatic liver disease Tubulointerstitial nephritis Elevated serum creatinine Enlarged kidney Hyperkalemia Nephritis Hypoglycemia Abnormality of the eye Loss of speech Abnormality of movement Cognitive impairment Dysarthria Behavioral abnormality Pneumonia Dementia Myoclonus Abnormality of the nervous system Mental deterioration Paralysis Skin rash Neurological speech impairment Generalized tonic-clonic seizures Abnormality of the cerebral white matter Ophthalmoplegia Retinal degeneration Abnormality of glutamine metabolism Psychosis Neurofibrillary tangles Prolonged neonatal jaundice Athetosis Dysphonia Schizophrenia Clumsiness Intellectual disability, profound Bruising susceptibility Spastic tetraplegia Mitral valve prolapse Chorea Tetraplegia Sleep disturbance Neurodegeneration Ataxia Abnormality of the clitoris Cough Hydronephrosis Hepatic steatosis Abnormal lung morphology Hypocalcemia Tachypnea Hypoalbuminemia Portal hypertension Rickets Interstitial pulmonary abnormality Bile duct proliferation Vitamin D deficiency Anasarca Vitamin A deficiency Small scrotum Atrial septal defect Wide mouth Infra-orbital crease Deep philtrum Functional respiratory abnormality Micronodular cirrhosis Biventricular hypertrophy Dextrocardia Clitoral hypertrophy Patent foramen ovale Wide anterior fontanel Short philtrum Telangiectasia Coarctation of aorta Asthma Thin vermilion border Synophrys Small for gestational age Mild fetal ventriculomegaly



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