Hyperreflexia, and Bone marrow hypocellularity

Diseases related with Hyperreflexia and Bone marrow hypocellularity

In the following list you will find some of the most common rare diseases related to Hyperreflexia and Bone marrow hypocellularity that can help you solving undiagnosed cases.

Top matches:

Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.

ATAXIA-PANCYTOPENIA SYNDROME Is also known as myelocerebellar disorder

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Anemia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ATAXIA-PANCYTOPENIA SYNDROME

MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., {607016}). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017).

MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS Is also known as mucopolysaccharidosis-like plus disease

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Spasticity
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS

Medium match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Other less relevant matches:

GRISCELLI SYNDROME, TYPE 2; GS2 Is also known as partial albinism and immunodeficiency syndrome|griscelli syndrome with hemophagocytic syndrome|paid syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GRISCELLI SYNDROME, TYPE 2; GS2

Medium match COATS PLUS SYNDROME

Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.

COATS PLUS SYNDROME Is also known as cerebroretinal microangiopathy with calcifications and cysts|coats plus syndrome|crmcc

Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COATS PLUS SYNDROME

Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).

XERODERMA PIGMENTOSUM Is also known as xeroderma pigmentosum i|xp1|xp, group a|xp

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM

In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HOYERAAL-HREIDARSSON SYNDROME

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

Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009).The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 DeficiencySee also COQ10D2 (OMIM ), caused by mutation in the PDSS1 gene (OMIM ) on chromosome 10p12; COQ10D3 (OMIM ), caused by mutation in the PDSS2 gene (OMIM ) on chromosome 6q21; COQ10D4 (OMIM ), caused by mutation in the COQ8 gene (ADCK3 ) on chromosome 1q42; COQ10D5 (OMIM ), caused by mutation in the COQ9 gene (OMIM ) on chromosome 16q21; COQ10D6 (OMIM ), caused by mutation in the COQ6 gene (OMIM ) on chromosome 14q24; COQ10D7 (OMIM ), caused by mutation in the COQ4 gene (OMIM ) on chromosome 9q34; and COQ10D8 (OMIM ), caused by mutation in the COQ7 gene (OMIM ) on chromosome 16p13.Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD ), caused by mutation in the ETFDH gene (OMIM ) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1 ), caused by mutation in the APTX gene (OMIM ) on chromosome 9p13.

COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 Is also known as ubiquinone deficiency 1|coq10 deficiency, primary, 1|coq deficiency 1|coenzyme q deficiency 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

Top 5 symptoms//phenotypes associated to Hyperreflexia and Bone marrow hypocellularity

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Anemia Very Common - Between 80% and 100% cases
Thrombocytopenia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and Bone marrow hypocellularity. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Leukopenia

Common Symptoms - More than 50% cases

Pancytopenia

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Spasticity Optic atrophy Microcephaly Hearing impairment Growth delay Failure to thrive Strabismus Cataract Telangiectasia Scoliosis Nystagmus Cerebral calcification Cryptorchidism Intrauterine growth retardation Respiratory distress Dysarthria Neoplasm Abnormal facial shape Abnormal pyramidal sign Immunodeficiency Hypogonadism Neutropenia Postnatal growth retardation Small for gestational age Fever Cardiomyopathy Recurrent infections Abnormality of movement Sepsis Hypertrophic cardiomyopathy Hypopigmentation of the skin Recurrent respiratory infections Squamous cell carcinoma Hypopigmented skin patches Hypergonadotropic hypogonadism Hepatomegaly Carcinoma Splenomegaly Gait disturbance Ventriculomegaly Fatigue Tremor Hepatosplenomegaly Acute myeloid leukemia Peripheral neuropathy Myelodysplasia Sensorineural hearing impairment Cognitive impairment Leukemia Decreased testicular size Generalized hypotonia Decreased antibody level in blood Progressive cerebellar ataxia Myeloid leukemia

Rare Symptoms - Less than 30% cases

Abnormality of the dentition Diabetes mellitus Abnormality of the liver Hyporeflexia Abnormality of skin pigmentation Irritability Hypothyroidism Renal insufficiency Alopecia Severe short stature Hypospadias Sloping forehead Hydrocephalus Motor delay Cerebral cortical atrophy Skeletal muscle atrophy Apraxia Blepharitis Pterygium Cutaneous photosensitivity Conjunctivitis Renal agenesis Osteoporosis Oligohydramnios Gastrointestinal hemorrhage Muscular hypotonia of the trunk Abnormality of lipid metabolism Visual impairment Hypertonia Reduced tendon reflexes Progressive neurologic deterioration Sparse hair Retinopathy Nausea and vomiting Rigidity Nail dystrophy Cirrhosis Abnormality of extrapyramidal motor function Recurrent urinary tract infections Vomiting Muscular hypotonia Thin skin Oral leukoplakia Aplastic anemia Chromosome breakage Ectopic kidney Cranial nerve paralysis Horseshoe kidney Abnormal vertebral morphology Insulin resistance Mental deterioration Dermal atrophy Premature graying of hair Focal segmental glomerulosclerosis Proteinuria Synophrys Patent ductus arteriosus Glomerulosclerosis Hip dislocation Tubular atrophy Abnormal heart morphology Atrial septal defect Babinski sign Thickened skin Dysmetria Hypoplastic anemia Cerebellar atrophy Abnormality of neutrophils Respiratory tract infection Abnormality of the foot Gliosis Abnormality of the cerebral white matter Abnormality of the skeletal system Postural instability Epicanthus Abnormal lung morphology Renal hypoplasia Epidermal acanthosis Lymphopenia Acanthosis nigricans Broad-based gait Goiter Hypotelorism Slurred speech Dysdiadochokinesis Bradykinesia Pigmentary retinopathy Short chin High palate Postural tremor Shuffling gait Gait ataxia Hyperhidrosis Cerebellar hypoplasia Abnormality of the nervous system Neurological speech impairment Long neck Gastrointestinal stroma tumor Multinodular goiter Glioma Chronic lung disease Misalignment of teeth Unilateral renal agenesis Low hanging columella Increased circulating gonadotropin level Cerebellar vermis atrophy Long nose Truncal obesity Cortical gyral simplification High pitched voice Sensory axonal neuropathy Convex nasal ridge Bilateral cryptorchidism Limb undergrowth Hypermetropia Broad nasal tip Melanocytic nevus Papilloma Conjunctival telangiectasia Entropion Craniofacial hyperostosis Poikiloderma Telangiectasia of the skin Freckling Macule Hypermelanotic macule Keratitis Ectropion Defective DNA repair after ultraviolet radiation damage Unsteady gait Distal sensory impairment Melanoma Neoplasm of the skin Intellectual disability, progressive Opacification of the corneal stroma Aminoaciduria Choreoathetosis Clonus Dry skin Ankyloblepharon Neoplasm of the eye Triangular face High forehead Polyneuropathy Sensory neuropathy Falls Long face Decreased fetal movement Dilated cardiomyopathy Prominent nasal bridge Short philtrum Attention deficit hyperactivity disorder Deeply set eye Mandibular prognathia Flat nasal alae Micropenis Pes cavus Inguinal hernia Clinodactyly Obesity Hernia Midface retrusion Long philtrum Hypoplasia of the corpus callosum Delayed speech and language development Carious teeth Anosmia Sparse scalp hair Encephalopathy Hepatic failure Lactic acidosis Joint hyperflexibility Stroke Acidosis Respiratory failure Myoclonus Rod-cone dystrophy Elevated serum creatine phosphokinase Visual loss Cerebral atrophy Metabolic acidosis Intellectual disability, mild Muscle weakness Folate-responsive megaloblastic anemia Glossitis Folate deficiency Oral ulcer Normocytic anemia Cheilitis Megaloblastic anemia Proximal amyotrophy Nephropathy Muscle cramps Macrocytic anemia Glomerulonephritis Rapid neurologic deterioration Exercise-induced myoglobinuria Recurrent myoglobinuria Glutaric aciduria Steroid-resistant nephrotic syndrome Scanning speech Myoglobinuria Glomerulopathy Generalized amyotrophy Ophthalmoparesis Failure to thrive in infancy Aciduria Hyperextensible skin Ragged-red muscle fibers Oculomotor apraxia Exercise intolerance Progressive muscle weakness Status epilepticus Nephrotic syndrome Bilateral sensorineural hearing impairment Specific learning disability Memory impairment Drowsiness Basal ganglia calcification Hyperpigmentation of the skin Generalized hyperpigmentation Reticular hyperpigmentation Urethral stenosis Lacrimal duct stenosis Keratoconjunctivitis Esophageal stricture Excessive wrinkled skin Testicular atrophy Ridged nail Premature loss of teeth Hodgkin lymphoma Restrictive ventilatory defect Abnormal leukocyte morphology Increased antibody level in blood Abnormality of coagulation Pulmonary fibrosis Flared metaphysis Epiphora Neonatal respiratory distress Developmental regression Abnormal intestine morphology Sparse eyelashes Truncal ataxia Pancreatic adenocarcinoma Phimosis Abnormality of the immune system Pallor Athetosis Recurrent upper respiratory tract infections Eosinophilia Increased body weight Aspiration Anorexia Chronic diarrhea Focal-onset seizure Dyskinesia Malabsorption Feeding difficulties in infancy Reticulated skin pigmentation Gastroesophageal reflux Pneumonia Behavioral abnormality Diarrhea Anal mucosal leukoplakia Pterygium of nails Split nail Generalized hypopigmentation of hair Fragile teeth Brittle scalp hair Erythema Ankle clonus EEG abnormality Tracheoesophageal fistula Aplasia/Hypoplasia of the radius Absent radius Abnormality of blood and blood-forming tissues Multiple cafe-au-lait spots Absent thumb Hydroureter Hirsutism Hypoplasia of the ulna Glucose intolerance Triphalangeal thumb External ear malformation Hyperinsulinemia Abnormality of the urinary system Abnormality of vision Reduced bone mineral density Wide nose Renal hypoplasia/aplasia Thick vermilion border Azoospermia Type I diabetes mellitus Hepatic steatosis Irregular hyperpigmentation Hearing abnormality Spina bifida Abnormal aortic valve morphology Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormality of the hypothalamus-pituitary axis Abnormal eyelid morphology Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the testis Abnormality of the uterus Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Macroglossia Brain atrophy Low-grade fever Clinodactyly of the 5th finger Pes planus Umbilical hernia Large forehead Proptosis Weight loss Flared iliac wings Upslanted palpebral fissure Acetabular dysplasia Macrovesicular hepatic steatosis J-shaped sella turcica Abnormality of the eye Abnormality of cardiovascular system morphology Headache Microphthalmia Obstructive lung disease Congestive heart failure Hypoplastic acetabulae Hypertelorism Frontal bossing Micrognathia Cleft palate Beaking of vertebral bodies Abnormality of the kidney Delayed myelination Lymphoma Short thumb Cafe-au-lait spot Aganglionic megacolon Abnormality of the genital system Choanal atresia Short palpebral fissure Long eyelashes Tetralogy of Fallot Joint contracture of the hand Coarse hair Dysostosis multiplex Bruising susceptibility Vertigo Astigmatism Anal atresia Facial asymmetry Toe syndactyly Dolichocephaly Finger syndactyly Abnormal cardiac septum morphology Barrel-shaped chest Meckel diverticulum Aplasia/Hypoplasia of the iris Photophobia Abnormal platelet function Portal hypertension Hemiplegia Increased susceptibility to fractures Leukoencephalopathy Leukodystrophy Hemiparesis Vertical nystagmus Febrile seizures Nail dysplasia Recurrent fractures Pathologic fracture Increased sensitivity to ionizing radiation Genu valgum Acute myelomonocytic leukemia Abnormal macrophage morphology Flexion contracture Osteopenia Dystonia Blindness Wide nasal bridge Hypertension Short femoral neck Abnormality of the vasculature Melanin pigment aggregation in hair shafts Acute leukemia Arthralgia Hyperkeratosis Incoordination Decreased nerve conduction velocity Delayed skeletal maturation Aplasia/Hypoplasia of the cerebellum Ptosis Impaired vibration sensation in the lower limbs Hyperactive deep tendon reflexes Decreased pulmonary function Hematochezia Spastic hemiparesis Exudative retinopathy Retinal telangiectasia Retinal exudate Metaphyseal sclerosis Intestinal bleeding Morphological abnormality of the pyramidal tract Esophageal varix Gait imbalance Calcinosis Accumulation of melanosomes in melanocytes Silver-gray hair Complete duplication of thumb phalanx Neoplasm of head and neck Jaundice Coarse facial features Telecanthus Edema Pectus carinatum Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Deficient excision of UV-induced pyrimidine dimers in DNA Lethargy Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Skeletal dysplasia Prominent forehead Cutaneous anergy Petechiae Reduced delayed hypersensitivity Partial albinism Hemophagocytosis Generalized edema White hair Edema of the lower limbs Abnormal eyebrow morphology Abnormal eyelash morphology Pulmonary infiltrates Iris hypopigmentation Short neck Lymphadenopathy Albinism Pyloric stenosis Hyperlipidemia Recurrent bacterial infections Encephalocele Pectus excavatum Hepatitis Peripheral demyelination Abnormal cerebellum morphology Ascites Crescentic glomerulonephritis


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