Anemia, and Facial palsy

Diseases related with Anemia and Facial palsy

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


Top matches:

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP T; FANCT


Fanconi anemia is characterized by genomic instability, increased susceptibility to cancer development, and bone marrow failure associated with various developmental abnormalities, such as radial ray anomalies or short stature (summary by Hira et al., 2015).For a discussion of genetic heterogeneity of Fanconi anemia, see FANCA (OMIM ).

Related symptoms:

  • Short stature
  • Neoplasm
  • Anemia
  • Thrombocytopenia
  • Polydactyly


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP T; FANCT

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP U; FANCU


Related symptoms:

  • Microcephaly
  • Growth delay
  • Anemia
  • Patent ductus arteriosus
  • Facial palsy


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP U; FANCU

Low match TANGIER DISEASE


Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.

TANGIER DISEASE Is also known as defective adenosine triphosphate-binding cassette transporter a1|analphalipoproteinemia|atp-binding cassette transporter a1 deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Abdominal pain
  • Hepatosplenomegaly
  • Distal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about TANGIER DISEASE

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Other less relevant matches:

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 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY


Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy.

EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY Is also known as epidermolysis bullosa simplex and limb-girdle muscular dystrophy|md-ebs|ebs-md|mdebs|limb-girdle muscular dystrophy with epidermolysis bullosa simplex

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Ptosis
  • Anemia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY

Low match BLAU SYNDROME


Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.

Related symptoms:

  • Cataract
  • Anemia
  • Hypertension
  • Fever
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about BLAU SYNDROME

Low match OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1


Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by Aker et al., 2012). Genetic Heterogeneity of Autosomal Recessive OsteopetrosisOther forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 (OMIM ), which is caused by mutation in the CLCN7 gene (OMIM ) on chromosome 16p13, and OPTB5 (OMIM ), which is caused by mutation in the OSTM1 gene (OMIM ) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2 ) is caused by mutation in the TNFSF11 gene (OMIM ) on chromosome 13q14, an intermediate form (OPTB6 ) is caused by mutation in the PLEKHM1 gene (OMIM ) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7 ) is caused by mutation in the TNFRSF11A gene (OMIM ) on chromosome 18q22. Another form of autosomal recessive osteopetrosis (OPTB8 ) is caused by mutation in the SNX10 gene (OMIM ) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3 ) is caused by mutation in the CA2 gene (OMIM ) on chromosome 8q21.Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, {607634}).

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 Is also known as marble bones, autosomal recessive|osteopetrosis, infantile malignant 1|albers-schonberg disease, autosomal recessive

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1

Low match PLEURAL MESOTHELIOMA


Malignant mesothelioma is a fatal asbestos-associated malignancy arising in the lining cells (mesothelium) of the pleural and peritoneal cavities, as well as in the pericardium and the tunica vaginalis.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLEURAL MESOTHELIOMA

Low match AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS


Infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification.

AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS Is also known as infantile malignant osteopetrosis|osteopetrosis, infantile malignant 2

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS

Top 5 symptoms//phenotypes associated to Anemia and Facial palsy

Symptoms // Phenotype % cases
Bone marrow hypocellularity Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Osteopetrosis Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hydrocephalus Optic atrophy Hepatomegaly Thrombocytopenia Failure to thrive Increased bone mineral density Growth delay Hearing impairment Macrocephaly Pancytopenia Lymphadenopathy

Rare Symptoms - Less than 30% cases


Frontal bossing Blindness Feeding difficulties Keratitis Vomiting Visual loss Visual impairment Abnormality of metabolism/homeostasis Ophthalmoparesis Irritability Brain atrophy Hypocalcemia Seizures Nystagmus Abnormal blistering of the skin Carious teeth Craniosynostosis Papule Fever Microcephaly Pulmonary arterial hypertension Extramedullary hematopoiesis Abdominal pain Dyspnea Dry skin Nail dystrophy Pathologic fracture Left ventricular hypertrophy Neoplasm Coxa vara Aganglionic megacolon Retinal atrophy Choanal stenosis Renal tubular acidosis Hyperparathyroidism Facial paralysis Elevated alkaline phosphatase Osteomyelitis Tetany Progressive macrocephaly Flared metaphysis Stage 5 chronic kidney disease Large vessel vasculitis Decreased antibody level in blood Abnormality of the retinal vasculature Nephropathy Limitation of joint mobility Hyperpigmentation of the skin Skin ulcer Aortic aneurysm Pericarditis Joint swelling Xerostomia Abnormal cranial nerve morphology Abnormality of the optic nerve Synovitis Acidosis Erythema nodosum Posterior uveitis Iridocyclitis Abnormal salivary gland morphology Abnormal choroid morphology Polyarticular arthritis Clear cell renal cell carcinoma Sandwich appearance of vertebral bodies Ichthyosis Retrobulbar optic neuritis Abnormal inflammatory response Secondary hyperparathyroidism Abnormality of the thorax Pain Bone pain Narrow chest Abnormality of movement Bruising susceptibility Delayed eruption of teeth Recurrent fractures Sepsis Otitis media Abnormality of the ribs Abnormality of the metaphysis Bowing of the long bones Abnormality of epiphysis morphology Cranial nerve paralysis Apnea Reduced bone mineral density Hypophosphatemia Reticulocytosis Abnormality of visual evoked potentials Pulmonary artery stenosis Premature loss of primary teeth Chronic rhinitis Abnormality of hair texture Abnormality of temperature regulation Abnormal pulmonary valve morphology Optic nerve compression Pallor Respiratory failure Dysphagia Oral-pharyngeal dysphagia Respiratory distress Diarrhea Weight loss Cough Nausea Ascites Chest pain Hypotension Abnormal lung morphology Pleural effusion Camptodactyly of finger Intestinal obstruction Recurrent respiratory infections Night sweats Abnormality of the pleura Abnormality of cardiovascular system physiology Functional respiratory abnormality Fourth cranial nerve palsy Constitutional symptom Malignant mesothelioma Obstruction of the superior vena cava Pleural mesothelioma Peritoneal mesothelioma Pericardial mesothelioma Tremor Skin rash Nemaline bodies Retinopathy Increased density of long bones Strabismus Gait disturbance Hypoplasia of the corpus callosum Prominent forehead Triangular face Short chin Leukopenia Short femoral neck Increased head circumference Uncontrolled eye movements Generalized hypotonia Impaired thermal sensitivity Ventriculomegaly Hypertonia Cerebral atrophy Proptosis Muscular hypotonia of the trunk Abnormality of skin pigmentation Hepatic failure Arnold-Chiari malformation Severe vision loss Arnold-Chiari type I malformation Orange discoloured tonsils Carotid artery stenosis Cranial hyperostosis Absent scaphoid Polydactyly Leukemia Short thumb Preaxial hand polydactyly Myeloid leukemia Acute myeloid leukemia Refractory anemia Duplication of thumb phalanx Patent ductus arteriosus Absent thumb Distal muscle weakness Accelerated atherosclerosis Corneal opacity Peripheral axonal neuropathy Hypertriglyceridemia Ectropion Syringomyelia Facial diplegia Hypocholesterolemia Chronic noninfectious lymphadenopathy Progressive peripheral neuropathy Coronary artery stenosis Generalized osteosclerosis Absence of renal corticomedullary differentiation Abnormality of the liver Scarring alopecia of scalp Milia Skin vesicle Aplasia/Hypoplasia of the skin Fatigable weakness Lipoma Severe postnatal growth retardation Echolalia Hypoplastic fingernail Increased connective tissue Oculomotor nerve palsy Hyperconvex fingernails Aphasia Muscle flaccidity Urethral stricture Decreased miniature endplate potentials Punctate keratitis Cataract Hypertension Glaucoma Arthralgia Photophobia Erythema Dysphasia Neonatal respiratory distress Decreased osteoclast count Dilated cardiomyopathy Muscle weakness Ptosis Fatigue Cardiomyopathy Myopathy Elevated serum creatine phosphokinase Alopecia Pneumonia Scarring Muscular dystrophy Hypotrichosis Abnormality of mitochondrial metabolism Ophthalmoplegia Tachycardia Nail dysplasia Ventricular hypertrophy Hypoplasia of dental enamel Progressive muscle weakness Abnormality of dental enamel Ventricular tachycardia Mutism Palmoplantar hyperkeratosis Dermal atrophy Opsoclonus



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