Anemia, and Pes cavus

Diseases related with Anemia and Pes cavus

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


Top matches:

Low match OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY


Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).

OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY Is also known as dominant optic atrophy plus syndrome|doa+

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY

Low match MULTIPLE SYMMETRIC LIPOMATOSIS


Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).

MULTIPLE SYMMETRIC LIPOMATOSIS Is also known as launois-bensaude lipomatosis|familial benign cervical lipomatosis|madelung disease|cephalothoracic lipodystrophy|lipomatosis, familial benign cervical|lipodystrophy, cephalothoracic

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE SYMMETRIC LIPOMATOSIS

Low match MUCKLE-WELLS SYNDROME


Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).

MUCKLE-WELLS SYNDROME Is also known as neutrophilic urticaria

Related symptoms:

  • Short stature
  • Anemia
  • Hepatomegaly
  • Fever
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about MUCKLE-WELLS SYNDROME

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Other less relevant matches:

Low match SINGLETON-MERTEN DYSPLASIA


Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).

SINGLETON-MERTEN DYSPLASIA Is also known as singleton-merten syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SINGLETON-MERTEN DYSPLASIA

Low match SECKEL SYNDROME 1; SCKL1


Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997). Genetic Heterogeneity of Seckel SyndromeOther forms of Seckel syndrome include SCKL2 (OMIM ), caused by mutation in the RBBP8 gene (OMIM ) on chromosome 18q11; SCKL4 (OMIM ), caused by mutation in the CENPJ gene (OMIM ) on chromosome 13q12; SCKL5 (OMIM ), caused by mutation in the CEP152 gene (OMIM ) on chromosome 15q21; SCKL6 (OMIM ), caused by mutation in the CEP63 gene (OMIM ) on chromosome 3q22; SCKL7 (OMIM ), caused by mutation in the NIN gene (OMIM ) on chromosome 14q22; SCKL8 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q21; SCKL9 (OMIM ), caused by mutation in the TRAIP gene (OMIM ) on chromosome 3p21; and SCKL10 (OMIM ), caused by mutation in the NSMCE2 gene (OMIM ) on chromosome 8q24.The report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by Kilinc et al. (2003) was found to be in error; see HISTORY.

SECKEL SYNDROME 1; SCKL1 Is also known as bird-headed dwarfism|nanocephalic dwarfism|sckl|microcephalic primordial dwarfism i|seckel-type dwarfism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 1; SCKL1

Low match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


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

Low match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Low match GALLOWAY-MOWAT SYNDROME


Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.

GALLOWAY-MOWAT SYNDROME Is also known as nephrosis-neuronal dysmigration syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|microcephaly, hiatal hernia, and nephrotic syndrome|scar5, formerly|galloway syndrome|cerebellar ataxia with mental retardation, optic atrophy, and skin abnor

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME

Low match CHOREOACANTHOCYTOSIS


Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.

CHOREOACANTHOCYTOSIS Is also known as neuroacanthocytosis|chorea-acanthocytosis|chac|levine-critchley syndrome|acanthocytosis with neurologic disorder

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHOREOACANTHOCYTOSIS

Low match BLOOD GROUP, SS; SS


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

Top 5 symptoms//phenotypes associated to Anemia and Pes cavus

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Abnormal facial shape Cataract Hypothyroidism Hypoplasia of the corpus callosum Neoplasm Ptosis Strabismus Cognitive impairment Nystagmus Cryptorchidism Micrognathia Microcephaly Intellectual disability Hepatomegaly Babinski sign Diabetes mellitus Midface retrusion Ventriculomegaly Skeletal muscle atrophy Muscular hypotonia Muscle weakness Growth delay Generalized hypotonia Prominent nasal bridge Hearing impairment Intrauterine growth retardation Optic atrophy Areflexia Sloping forehead Myopathy Dystonia Synophrys Small for gestational age Hypogonadism Abnormality of eye movement

Rare Symptoms - Less than 30% cases


Hip dislocation Broad forehead Osteopenia Osteoporosis Recurrent respiratory infections Recurrent infections Abnormality of the dentition Talipes equinovarus Abnormality of the skeletal system Deeply set eye Hernia Prominent nose Tics Retinopathy Abnormal pyramidal sign Attention deficit hyperactivity disorder Sleep disturbance Abnormality of the foot Abnormal palate morphology Genu valgum Generalized muscle weakness Hypoplasia of the maxilla Feeding difficulties Kyphosis High palate Low-set ears Cerebral cortical atrophy Clinodactyly Scoliosis Severe short stature Abnormality of the eye Proportionate short stature Vasculitis Cerebral atrophy Chorea Downslanted palpebral fissures Gliosis Talipes Muscle fiber atrophy Postnatal growth retardation Convex nasal ridge Delayed speech and language development Dysarthria Tremor Pachygyria Osteolysis Cutaneous photosensitivity Ascites Sensory neuropathy Triangular face Nephrotic syndrome Truncal obesity Muscle cramps Hypergonadotropic hypogonadism Arthralgia Self-injurious behavior Neurodegeneration Hydrocephalus Aggressive behavior Macrotia Flexion contracture Ragged-red muscle fibers Developmental regression Bilateral cryptorchidism Insulin resistance Progressive sensorineural hearing impairment Macrocytic anemia Behavioral abnormality Hypertonia Hypotelorism Congenital hypothyroidism Nephropathy Sensorineural hearing impairment Spasticity Hyperreflexia Dysphagia Hypertension Cerebellar atrophy Camptodactyly of finger Microphthalmia Polyneuropathy Glaucoma Abdominal pain Bradykinesia Visual loss Splenomegaly Macrocephaly Nevus Hip dysplasia Downturned corners of mouth Absent speech Otitis media Short distal phalanx of finger Pneumonia Dilatation Distal amyotrophy Renal insufficiency Proteinuria Narrow chest Congenital cataract Protruding ear Cerebellar hypoplasia Gastroesophageal reflux EEG abnormality Edema Muscular hypotonia of the trunk Camptodactyly Abnormality of the kidney Irritability Conductive hearing impairment Narrow mouth Wide mouth Severe global developmental delay Vomiting Absent facial hair Epicanthus Basal ganglia calcification Ectopic calcification Schizophrenia Melanocytic nevus Recurrent ear infections Metatarsus adductus Bone cyst Anonychia Mixed hearing impairment Ankle clonus Sparse body hair Plagiocephaly Generalized osteoporosis Dystrophic fingernails Hip contracture Progressive gait ataxia Striae distensae Thoracic kyphosis Restlessness Poor coordination Insulin-resistant diabetes mellitus Narrow iliac wings Spastic paraparesis Visual impairment Sparse scalp hair Hypertelorism Superiorly displaced ears Calcification of the auricular cartilage Increased size of the mandible Irregular vertebral endplates Posterior scalloping of vertebral bodies Torus palatinus Cerebral calcification Thick lower lip vermilion Abnormal form of the vertebral bodies Abnormal glucose tolerance Thickened skin Motor tics Basilar impression Absent axillary hair Posterior polar cataract Gynecomastia Clonus Paraparesis Knee flexion contracture Broad face Aspiration Poor speech Neurological speech impairment Neuronal loss in central nervous system Memory impairment Parkinsonism Abnormal bleeding Dyskinesia Lymphadenopathy Abnormality of movement Nausea and vomiting Malabsorption Limb muscle weakness Generalized tonic-clonic seizures Pallor Progressive neurologic deterioration Mental deterioration Hypertrophic cardiomyopathy Abnormality of the nervous system Anxiety Elevated hepatic transaminase Hepatosplenomegaly Weight loss Dementia Elevated serum creatine phosphokinase Hyporeflexia Depressivity Fatigue Psychosis Involuntary movements Thyroid dysgenesis Mood changes Square-wave jerks Subcortical dementia Progressive choreoathetosis Progressive distal muscular atrophy Hair-pulling Abnormality of urine homeostasis Phonic tics Caudate atrophy Distal upper limb muscle weakness Abnormal erythrocyte morphology Difficulty in tongue movements Abetalipoproteinemia Abnormal urinary color EMG abnormality Dysgraphia Disinhibition Orofacial dyskinesia Acanthocytosis Acute hepatic failure Self-mutilation Protruding tongue Abnormality of the thyroid gland Generalized amyotrophy Personality changes Abnormality of vision Drooling Projectile vomiting Laryngospasm Arachnodactyly Small nail Chronic kidney disease Adducted thumb Hyperkinesis Lissencephaly Severe muscular hypotonia Opacification of the corneal stroma Gait ataxia Joint contracture of the hand Progressive microcephaly Postnatal microcephaly Heterotopia Hypsarrhythmia Glomerulosclerosis Spastic tetraplegia Oligohydramnios Narrow forehead Dandy-Walker malformation Premature birth Delayed myelination Limitation of joint mobility Brain atrophy Tetraplegia Hypopigmentation of the skin Hematuria Inability to walk Hypoalbuminemia Hypoplasia of the brainstem Hypoplasia of the ear cartilage Aqueductal stenosis Encephalomalacia Albuminuria Congenital nephrotic syndrome Abnormality of the intervertebral disk Axial dystonia Diffuse mesangial sclerosis Diaphragmatic eventration Narrow nasal ridge Hand clenching Periorbital edema Abnormal renal physiology Spastic ataxia Diffuse cerebral atrophy Flat occiput Tubular atrophy Esophagitis Mild microcephaly Aspiration pneumonia Adrenal hypoplasia Hiatus hernia Hypoplasia of the iris Abnormality of immune system physiology Slender finger Abnormality of neuronal migration Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Autism Dysmetria Brachycephaly Myopia Aortic valve stenosis Decreased body weight Cardiomegaly Waddling gait Smooth philtrum Carious teeth Joint laxity Thin upper lip vermilion Arrhythmia Congestive heart failure Renal amyloidosis Scaling skin Hernia of the abdominal wall Episcleritis Recurrent aphthous stomatitis Abnormality of the nose Broad foot Uveitis Elevated erythrocyte sedimentation rate Restrictive ventilatory defect Abnormality of the voice Urticaria Coxa valga Psoriasiform dermatitis Conjunctivitis Dentinogenesis imperfecta limited to primary teeth Hypospadias Ventricular septal defect Cleft palate Expanded phalanges with widened medullary cavities Expanded metacarpals with widened medullary cavities Hypoplastic distal radial epiphyses Expanded metatarsals with widened medullary cavities Aortic arch calcification Hypoplasia of the tooth germ Tendon rupture Unerupted tooth Epiphora Premature loss of permanent teeth Mitral valve calcification Hip subluxation Aortic valve calcification Shallow acetabular fossae Subvalvular aortic stenosis Onycholysis Osteolytic defects of the phalanges of the hand High anterior hairline Periodontitis Heart block Cranial nerve paralysis Abnormality of the genital system Clinodactyly of the 5th finger Central scotoma Abnormality of the liver Joint stiffness Pain Abnormal amplitude of pattern reversal visual evoked potentials Centrocecal scotoma Tritanomaly Red-green dyschromatopsia Abnormal auditory evoked potentials Episodic ataxia Progressive external ophthalmoplegia Increased variability in muscle fiber diameter Tachycardia Abnormal electroretinogram External ophthalmoplegia Horizontal nystagmus Progressive visual loss Paraplegia Ophthalmoplegia Spastic paraplegia Autistic behavior Reduced visual acuity Encephalopathy Paresthesia Abnormality of the skin Ichthyosis Alcoholism Delayed puberty Skin rash Arthritis Myalgia Abnormality of metabolism/homeostasis Fever Abnormal adipose tissue morphology Increased HDL cholesterol concentration Neuropathic arthropathy Decreased LDL cholesterol concentration Hyperlipoproteinemia Myocardial infarction Gout Oligomenorrhea Lipoma Arthropathy Multiple lipomas Axonal degeneration Coronary artery atherosclerosis Oral-pharyngeal dysphagia Abnormality of mitochondrial metabolism Reduced tendon reflexes Hoarse voice Delayed skeletal maturation Posteriorly rotated ears Agenesis of corpus callosum Limb undergrowth Acanthosis nigricans Short chin Bone marrow hypocellularity Lymphopenia Abnormal lung morphology Broad-based gait Renal hypoplasia Epidermal acanthosis Apraxia Pigmentary retinopathy Decreased testicular size Goiter Renal agenesis Progressive cerebellar ataxia Broad nasal tip Falls Long face Hypermetropia Dilated cardiomyopathy Short philtrum Sparse hair Rigidity Leukopenia Slurred speech Mandibular prognathia Shuffling gait Pectus excavatum Malar flattening Intellectual disability, mild Intellectual disability, severe Anteverted nares Long neck Gastrointestinal stroma tumor Multinodular goiter Glioma Chronic lung disease Misalignment of teeth Dysdiadochokinesis Low hanging columella Increased circulating gonadotropin level Abnormality of lipid metabolism Cerebellar vermis atrophy Long nose Cortical gyral simplification Ectopic kidney High pitched voice Sensory axonal neuropathy Unilateral renal agenesis Postural tremor High forehead Micropenis Upslanted palpebral fissure Thick eyebrow Narrow palate Elbow flexion contracture Narrow face Dental crowding Hypoplasia of dental enamel Cerebellar vermis hypoplasia Pancytopenia Dental malocclusion Tapered finger Single transverse palmar crease Facial asymmetry Patent foramen ovale Pulmonic stenosis Leukemia Microtia Blepharophimosis Abnormality of the pinna Hyperlordosis Intellectual disability, moderate Pes planus Retrognathia Hyperactivity Sandal gap Myelodysplasia Inguinal hernia Small anterior fontanelle Obesity Thrombocytopenia Immunodeficiency Long philtrum Cardiomyopathy Hypoplasia of proximal fibula Large basal ganglia Hypoplasia of proximal radius Abnormal finger flexion creases Ivory epiphyses Lumbar scoliosis Clitoral hypertrophy Selective tooth agenesis Acute monocytic leukemia 11 pairs of ribs Abnormal cortical gyration Abnormally large globe Chromosome breakage Cone-shaped epiphyses of the phalanges of the hand Severe intrauterine growth retardation Dislocated radial head Acute myeloid leukemia Myeloid leukemia Self-mutilation of tongue and lips due to involuntary movements



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