Anemia, and Hydrocephalus

Diseases related with Anemia and Hydrocephalus

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


Top matches:

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP R; FANCR


Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Growth delay
  • Anemia
  • Hydrocephalus


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP R; FANCR

Low 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

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB


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).Patients with FANCB mutations often present with multiple additional congenital anomalies, including the constellation of features designated VACTERL-H, for vertebral defects, anal atresia, tracheoesophageal fistula, esophageal atresia, radial or renal dysplasia, and hydrocephalus. Many patients with these features die in early infancy before developing anemia (McCauley et al., 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB Is also known as fa2|facb|fanconi pancytopenia, type 2

Related symptoms:

  • Growth delay
  • Neoplasm
  • Low-set ears
  • Anemia
  • Intrauterine growth retardation


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB

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Other less relevant matches:

Low match INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS


Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.

INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS Is also known as fad1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS

Low match HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN


Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.

HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN Is also known as cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly|hereditary cryohydrocytosis type 2|sdchc|stomatin-deficient cryohydrocytosis|chc type 2|glut1 deficiency syndrome with pseudohyperkalemia an

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN

Low match OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2


OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2 Is also known as osteopetrosis, osteoclast-poor|osteopetrosis, mild autosomal recessive form

Related symptoms:

  • Seizures
  • Short stature
  • Anemia
  • Visual impairment
  • Optic atrophy


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2

Low match RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2


Rhabdoid tumor predisposition syndrome-2 is an autosomal dominant cancer predisposition syndrome characterized by the onset in infancy, childhood, or young adulthood of various poorly differentiated tumors. Classically, tumors that arise in the central nervous system are referred to as atypical teratoid/rhabdoid tumors, whereas those arising in the kidney or other extracranial sites are referred to as malignant rhabdoid tumors. Tumors may also present as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), also known as malignant rhabdoid tumor of the ovary (MRTO). All of these tumors are highly aggressive and often fatal (summary by Foulkes et al., 2014).See also RTPS1 (OMIM ), which is caused by mutation in the SMARCB1 gene (OMIM ) on chromosome 22q11.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2

Low match OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8


Related symptoms:

  • Failure to thrive
  • Strabismus
  • Anemia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8

Low match OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5


Autosomal recessive osteopetrosis-5 is a form of infantile malignant osteopetrosis, characterized by defective osteoclast function resulting in decreased bone resorption and generalized osteosclerosis. Defective resorption causes development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration is associated with extramedullary hematopoiesis and hepatosplenomegaly, and results in anemia and thrombocytopenia, whereas nerve entrapment accounts for progressive blindness and hearing loss. Other major manifestations include failure to thrive, pathologic fractures, and increased infection rate. Most affected children succumb to severe bone marrow failure and overwhelming infection in the first few years of life (Quarello et al., 2004).

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5 Is also known as osteopetrosis, infantile malignant 3

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Failure to thrive
  • Anemia


SOURCES: MESH OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5

Low match FAMILIAL PORENCEPHALY


Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

FAMILIAL PORENCEPHALY Is also known as t1p|porencephaly, type 1, autosomal dominant|adt1p|hemiplegia, infantile, with porencephaly porencephaly, type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PORENCEPHALY

Top 5 symptoms//phenotypes associated to Anemia and Hydrocephalus

Symptoms // Phenotype % cases
Bone marrow hypocellularity Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Short stature Hypertonia Optic atrophy Ventriculomegaly Osteopetrosis Seizures Neoplasm Growth delay Irritability Anal atresia Splenomegaly Chromosome breakage Hepatomegaly

Rare Symptoms - Less than 30% cases


Cranial hyperostosis Hemolytic anemia Cataract Spasticity Macrocephaly Cerebral palsy Visual impairment Extramedullary hematopoiesis Blindness Increased bone mineral density Brain atrophy Hematuria Facial palsy Strabismus Facial paralysis Global developmental delay Hemiplegia Intrauterine growth retardation Leukoencephalopathy Hypoplasia of the iris Prominent forehead Porencephalic cyst Stroke-like episode Nuclear cataract Triangular face Transient ischemic attack Short chin Vomiting Leukopenia Short femoral neck Increased head circumference Uncontrolled eye movements Increased density of long bones Posterior embryotoxon Restlessness Primitive reflex Hypoplasia of the corpus callosum Generalized hypotonia Schizencephaly Ovarian neoplasm Spastic hemiparesis Poor appetite Renal neoplasm Perivascular spaces Neoplasm of the liver Oculomotor nerve palsy Teratoma Frontal bossing Neoplasm of the central nervous system Embryonal neoplasm Internal hemorrhage Pontocerebellar atrophy Feeding difficulties Gait disturbance Hemianopia Limb dystonia Hearing impairment Exotropia Cerebellar hypoplasia Cerebellar atrophy Ischemic stroke Drooling Dystonia Dilatation Elevated serum creatine phosphokinase Babinski sign Abnormal pyramidal sign Intracranial hemorrhage Stroke Polymicrogyria Renal cyst Muscle cramps Mitral valve prolapse Tetraparesis Hemiparesis Dysarthria Cerebral hemorrhage Cerebral atrophy Arnold-Chiari malformation Abnormality of metabolism/homeostasis Proptosis Muscular hypotonia of the trunk Craniosynostosis Abnormality of skin pigmentation Hepatic failure Visual field defect Pathologic fracture Nephroblastoma Severe vision loss Opisthotonus Arnold-Chiari type I malformation Generalized osteosclerosis Absence of renal corticomedullary differentiation Cortical dysplasia Dysphasia Decreased osteoclast count Cognitive impairment Pain Hypercalcemia Myelodysplasia Corneal opacity Esotropia Renal hypoplasia Short thumb Cafe-au-lait spot Horseshoe kidney Breast carcinoma Acute myeloid leukemia Microphthalmia Anteriorly placed anus Lipoma Acute leukemia Peters anomaly Medulloblastoma Chromosomal breakage induced by crosslinking agents T-cell acute lymphoblastic leukemias Ataxia Leukemia Abnormality of chromosome stability Hyperreflexia Abnormal hemoglobin Congestive heart failure Polyhydramnios Pallor Oligohydramnios Hydrops fetalis Pericarditis Preeclampsia Low-set ears Abnormal lung lobation Renal agenesis Renal dysplasia Abnormal vertebral morphology Tracheoesophageal fistula External genital hypoplasia Absent thumb Absent radius Esophageal atresia Nystagmus Brachydactyly Sarcoma Fever Coxa vara Osteomyelitis Persistence of primary teeth Diaphyseal sclerosis Mandibular osteomyelitis Chronic rhinitis due to narrow nasal airway Hypertension Respiratory insufficiency Pancytopenia Headache Abdominal pain Weight loss Carcinoma Nausea and vomiting Lymphadenopathy Subcutaneous nodule Cranial nerve paralysis Hypocalcemia Recurrent fractures Absent speech Hyperkalemia Macrotia Jaundice Spastic paraplegia Paraplegia Inability to walk Delayed myelination Hyperbilirubinemia Broad neck Genu valgum Conjugated hyperbilirubinemia Stomatocytosis Hemoglobinuria Zonular cataract Hypoglycorrhachia Abnormality of the dentition Mandibular prognathia Carious teeth Antenatal intracerebral hemorrhage



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