Anemia, and Cerebral calcification

Diseases related with Anemia and Cerebral calcification

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

Top matches:

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

Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome, is characterized by a constellation of features restricted to the central nervous system, including leukoencephalopathy, brain calcifications, and cysts, resulting in spasticity, dystonia, seizures, and cognitive decline (summary by Labrune et al., 1996).See also cerebroretinal microangiopathy with calcifications and cysts (CRMCC ), an autosomal recessive disorder caused by mutation in the CTC1 gene (OMIM ) that shows phenotypic similarities to Labrune syndrome. CRMCC includes the neurologic findings of intracranial calcifications, leukodystrophy, and brain cysts, but also includes retinal vascular abnormalities and other systemic manifestations, such as osteopenia with poor bone healing, a high risk of gastrointestinal bleeding, hair, skin, and nail changes, and anemia and thrombocytopenia. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic (Anderson et al., 2012; Polvi et al., 2012).

LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC Is also known as labrune syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity


SOURCES: OMIM MESH MENDELIAN

More info about LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Spasticity
  • Tremor


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 6; AGS6

Other less relevant matches:

Low match REVESZ SYNDROME

Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.

REVESZ SYNDROME Is also known as exudative retinopathy with bone marrow failure|dkca5|dyskeratosis congenita, autosomal dominant 5|dyskeratosis congenita with bilateral exudative retinopathy|retinopathy-anemia-central nervous system anomalies syndrome|revesz-debuse syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Nystagmus
  • Anemia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about REVESZ SYNDROME

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3 Is also known as carbonic anhydrase ii deficiency|guibaud-vainsel syndrome|marble brain disease|osteopetrosis with renal tubular acidosis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscle weakness


SOURCES: MESH OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3

Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.

OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS Is also known as mixed rta|mixed renal tubular acidosis|renal tubular acidosis type 3|rta, bicarbonate-wasting type|rta, dislocation type|guibaud-vainsel syndrome|carbonic anhydrase 2 deficiency|marble brain disease

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Failure to thrive
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 4; AGS4

Proteasome-associated autoinflammatory syndrome-3 is an autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. Additional features are highly variable, but may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications (summary by Brehm et al., 2015).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Failure to thrive
  • Anemia
  • Flexion contracture
  • Fever
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3; PRAAS3

Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.

HEREDITARY FOLATE MALABSORPTION Is also known as congenital folate malabsorption

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY FOLATE MALABSORPTION

Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal leukoplakia, nail dysplasia, and abnormal skin pigmentation. Affected individuals have an increased risk of aplastic anemia and malignancy. Less common features include epiphora, premature gray hair, microcephaly, developmental delay, and pulmonary fibrosis, among others. The phenotype is highly variable. All affected individuals have shortened telomeres due to a defect in telomere maintenance (summary by Savage et al., 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DCKA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3

Top 5 symptoms//phenotypes associated to Anemia and Cerebral calcification

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Tremor Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Leukopenia Hypertonia Short stature Hepatosplenomegaly Microcephaly Leukodystrophy Failure to thrive Intrauterine growth retardation Pancytopenia Seizures Pneumonia Dystonia Spasticity

Rare Symptoms - Less than 30% cases

Cerebellar hypoplasia Retinopathy Nail dystrophy Fine hair Hyperpigmentation of the skin Bone marrow hypocellularity Aplastic anemia Oral leukoplakia Generalized hypotonia Visual impairment Aseptic necrosis Dental malocclusion Abnormal lung morphology Basal ganglia calcification Osteomalacia Osteopetrosis Elevated hepatic transaminase Peripheral neuropathy Hepatomegaly Splenomegaly Recurrent infections Reticulated skin pigmentation Nystagmus Gastrointestinal hemorrhage Skin rash Loss of speech Osteopenia Progressive neurologic deterioration Abnormality of movement Normocytic anemia Increased antibody level in blood Hypermelanotic macule Microcytic anemia Myositis Calcinosis Bronchiolitis Hypochromic anemia Finger swelling Panniculitis Bronchiolitis obliterans Bronchiolitis obliterans organizing pneumonia Pulmonary fibrosis Muscular hypotonia Epiphora Portal hypertension Motor delay Hyperreflexia Keratitis Lipodystrophy Premature graying of hair Hodgkin lymphoma Lymphocytosis CSF lymphocytic pleiocytosis Flexion contracture Phimosis Fever Dysphagia Esophageal stricture Arthralgia Arthritis Erythema Vomiting Scarring Lymphadenopathy Hypertriglyceridemia Inflammatory abnormality of the skin Sinusitis Lymphopenia Conjunctivitis Interstitial pulmonary abnormality Hypercholesterolemia Skeletal muscle atrophy Immunodeficiency Diarrhea Eosinophilia Hypertension Anorexia Aspiration Delayed speech and language development Increased body weight Cryptorchidism Hearing impairment Folate-responsive megaloblastic anemia Recurrent upper respiratory tract infections Chronic diarrhea Glossitis Folate deficiency Oral ulcer Athetosis Abnormality of the immune system Macrocytic anemia Drowsiness Proximal amyotrophy Megaloblastic anemia Alopecia Recurrent urinary tract infections Behavioral abnormality Respiratory tract infection Cheilitis Recurrent respiratory infections Abnormal intestine morphology Gastroesophageal reflux Feeding difficulties in infancy Nail dysplasia Lymphoma Irritability Abnormality of skin pigmentation Pallor Focal-onset seizure Nausea and vomiting Malabsorption Dyskinesia Dry skin Neutropenia Osteoporosis Sepsis Decreased antibody level in blood Facial paralysis Neoplasm Abnormality of the renal tubule Atrophy/Degeneration affecting the brainstem Abnormality of metabolism/homeostasis Toe walking Ankle clonus Freckling Progressive spastic paraplegia Generalized dystonia Moderate global developmental delay Loss of ability to walk Limb tremor Sparse hair Lower limb spasticity Broad-based gait Purpura Megalocornea Nail pits Ridged fingernail Leukocoria Exudative retinopathy Fine, reticulate skin pigmentation Muscle weakness Clonus Frequent falls Abnormality of the dentition Hemiparesis Dysarthria Gait disturbance Mental deterioration Abnormal pyramidal sign Abnormality of the cerebral white matter Inability to walk Gliosis Abnormality of extrapyramidal motor function Leukoencephalopathy Hemolytic anemia Hemiplegia Abnormality of the vasculature Babinski sign Rigidity Abnormality of the nervous system Developmental regression Spastic paraplegia Paraplegia Falls Intellectual disability, severe Visual loss Muscle stiffness Hydrocephalus Rickets Abnormality of dental morphology Periodic paralysis Bicarbonate-wasting renal tubular acidosis Low-set ears Feeding difficulties Ventriculomegaly Respiratory insufficiency Cerebellar atrophy Reduced bone mineral density Cerebral atrophy Encephalopathy Apnea Paralysis Severe global developmental delay Pruritus Convex nasal ridge Progressive microcephaly Bradycardia Hypokalemia Nephrocalcinosis Acidosis Diaphyseal sclerosis Metabolic acidosis Restrictive ventilatory defect Renal tubular acidosis Poor appetite Extramedullary hematopoiesis Cranial hyperostosis Distal renal tubular acidosis Proximal renal tubular acidosis Periodic hypokalemic paresis Bone pain Elevated serum acid phosphatase Optic nerve compression Optic atrophy Mandibular prognathia Carious teeth Genu valgum Recurrent fractures Nephrolithiasis Abnormality of epiphysis morphology Pulmonary hemorrhage


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