Anemia, and Kyphosis

Diseases related with Anemia and Kyphosis

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


Top matches:

Low match MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA


Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.

MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA Is also known as msa|mlasa|myopathy, lactic acidosis and sideroblastic anemia|mitochondrial myopathy and sideroblastic anemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA

Low match TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY


Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY

Low match ANAUXETIC DYSPLASIA 1; ANXD1


Anauxetic dysplasia is a form of spondylometaepiphyseal dysplasia characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. Major radiographic characteristics are late-maturing ovoid vertebral bodies with concave dorsal surfaces in the lumbar region; small capital femoral epiphyses; hypoplastic femoral necks; hypoplastic iliac bodies and shallow acetabulae; irregular metaphyseal mineralization and demarcation of the long tubular bones; short first and fifth metacarpals with widened shafts; very short and broad phalanges with small, late-ossifying epiphyses and bullet-shaped middle phalanges; and midface hypoplasia. The number of chondrocytes is severely reduced in the resting and proliferating cartilage, with diminished columnization of the hypertrophic zone (summary by Thiel et al., 2005).Mutations in RMRP also cause 2 milder types of short stature with susceptibility to cancer, cartilage-hair hypoplasia (CHH ) and metaphyseal dysplasia without hypotrichosis (OMIM ). Genetic Heterogeneity of Anauxetic DysplasiaAnauxetic dysplasia-2 (ANXD2 ) is caused by mutation in the POP1 gene on chromosome 8q22.

ANAUXETIC DYSPLASIA 1; ANXD1 Is also known as spondyloepimetaphyseal dysplasia, anauxetic type|anxd|spondylometaepiphyseal dysplasia, anauxetic type|spondylometaepiphyseal dysplasia, menger type|anauxetic dysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about ANAUXETIC DYSPLASIA 1; ANXD1

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Other less relevant matches:

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

Low match FARBER DISEASE


Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.

FARBER DISEASE Is also known as acid ceramidase deficiency|ac deficiency|farber lipogranulomatosis|ceramidase deficiency|farber disease|n-laurylsphingosine deacylase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FARBER DISEASE

Low match PYCNODYSOSTOSIS


Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Low match SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI


Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

Low match MEVALONIC ACIDURIA


Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

Low match FIBRODYSPLASIA OSSIFICANS PROGRESSIVA


Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.

FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Is also known as stone man syndrome|fop|myositis ossificans progressiva

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBRODYSPLASIA OSSIFICANS PROGRESSIVA

Low match ISOLATED CYTOCHROME C OXIDASE DEFICIENCY


Complex IV (cytochrome c oxidase; {EC 1.9.3.1}) is the terminal enzyme of the respiratory chain and consists of 13 polypeptide subunits, 3 of which are encoded by mitochondrial DNA. The 3 mitochondrially encoded proteins in the cytochrome oxidase complex are the actual catalytic subunits that carry out the electron transport function (Saraste, 1983). See {123995} for discussion of some of the nuclear-encoded subunits.Shoubridge (2001) provided a comprehensive review of cytochrome c oxidase deficiency and noted that most isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare.

ISOLATED CYTOCHROME C OXIDASE DEFICIENCY Is also known as isolated mitochondrial respiratory chain complex iv deficiency|cox deficiency|isolated cox deficiency|cytochrome c oxidase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED CYTOCHROME C OXIDASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Anemia and Kyphosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Splenomegaly Respiratory insufficiency Myopathy Hepatomegaly Muscular hypotonia Scoliosis Kyphoscoliosis Low-set ears Progressive muscle weakness Generalized hypotonia Spasticity Neoplasm Abnormality of the skeletal system Respiratory tract infection Respiratory distress Motor delay Intellectual disability, mild Hepatosplenomegaly Hyperlordosis Edema Arthralgia Microcephaly Respiratory failure Acidosis Tetraplegia Muscle weakness Recurrent respiratory infections Pain Lactic acidosis

Rare Symptoms - Less than 30% cases


Limb muscle weakness Hemolytic anemia Respiratory insufficiency due to muscle weakness Abnormal facial shape Vomiting Irritability Fever Optic atrophy Arthritis Apnea Flexion contracture Osteoporosis Lumbar hyperlordosis Blue sclerae Metabolic acidosis Metaphyseal irregularity Metaphyseal widening Short toe Rhizomelia Hypodontia Nystagmus Hypotrichosis Platyspondyly Midface retrusion Brachydactyly Back pain Normocytic anemia Ataxia Abnormal vertebral morphology Hypertrophic cardiomyopathy Increased serum lactate Exercise intolerance Weak cry Lymphadenopathy Pallor Rheumatoid arthritis Mitochondrial myopathy Glaucoma Jaundice Sensorineural hearing impairment Encephalopathy Basal ganglia calcification Cytochrome C oxidase-negative muscle fibers Juvenile rheumatoid arthritis Pneumonia Thrombocytopenia Cardiomyopathy Skeletal dysplasia Micrognathia Aciduria Recurrent infections Cerebral atrophy Ptosis Congestive heart failure Spastic tetraplegia Subcutaneous nodule Decreased liver function Skeletal muscle atrophy Hyperreflexia Diarrhea Clinodactyly Clumsiness Underdeveloped nasal alae Large fontanelles Severe failure to thrive Hearing impairment Leukocytosis Normocytic hypoplastic anemia Petechiae Fluctuating splenomegaly Fluctuating hepatomegaly Nuclear cataract Organic aciduria Morbilliform rash Cholestatic liver disease Agenesis of cerebellar vermis Extramedullary hematopoiesis Chronic leukemia Therapeutic abortion Hypoplastic anemia Glutathione synthetase deficiency Posteriorly rotated ears Nevus Immune dysregulation Metaphyseal sclerosis Progressive spastic quadriplegia Madelung deformity Decrease in T cell count Tubulointerstitial fibrosis Cellular immunodeficiency Spondylometaphyseal dysplasia Barrel-shaped chest Hypopigmented skin patches on arms Narrow nose Irregular vertebral endplates Vitiligo Autoimmune thrombocytopenia Recurrent sinusitis Autoimmune hemolytic anemia Scleroderma Hypermelanotic macule Arthralgia/arthritis Cataract Progressive cerebellar ataxia Abnormality of the nervous system Triangular face Retinal dystrophy Malabsorption Dolichocephaly Leukemia Skin rash Abnormality of the liver Low-set, posteriorly rotated ears Elevated hepatic transaminase Downslanted palpebral fissures Hypoglycemia Cerebral cortical atrophy Abdominal pain Alopecia Delayed skeletal maturation Elevated serum creatine phosphokinase Obesity Cerebellar atrophy Clinodactyly of the 5th finger Synostosis of joints Difficulty walking Aminoaciduria Hemiplegia Hypercalciuria Poor suck Poor head control Hyperammonemia Tachypnea Leukoencephalopathy Severe muscular hypotonia Congenital hip dislocation Apathy Progressive neurologic deterioration Hemiparesis Status epilepticus Pulmonary arterial hypertension Pigmentary retinopathy Generalized muscle weakness Coma Hepatic steatosis Polydipsia Spinal muscular atrophy Generalized tonic-clonic seizures Periventricular leukomalacia Spastic hemiparesis Increased intramyocellular lipid droplets Proximal renal tubular acidosis Renal Fanconi syndrome Hepatic encephalopathy Microvesicular hepatic steatosis Respiratory arrest Thoracolumbar kyphosis Hyperphosphaturia Myotonia Increased CSF lactate Renal tubular dysfunction Thoracolumbar scoliosis Progressive encephalopathy Renal tubular acidosis Glycosuria Exertional dyspnea Polyuria Hepatic failure Hip dislocation Conductive hearing impairment Hamartoma Broad femoral neck Short 1st metacarpal Short hallux Myositis Broad neck Exostoses Ankylosis Alopecia of scalp Spinal rigidity Overbite Hallux valgus Sarcoma Widely spaced teeth Finger clinodactyly Aspiration Short thumb Myocardial infarction Limitation of joint mobility Stiff neck Low-grade fever Muscular hypotonia of the trunk Aplasia/Hypoplasia of the phalanges of the hallux Proteinuria Dilatation Ventriculomegaly Dysarthria Hypertension Feeding difficulties Strabismus Growth delay Abnormality of the first metatarsal bone Soft tissue sarcoma Progressive cervical vertebral spine fusion Ectopic ossification in tendon tissue Ectopic ossification in ligament tissue Ectopic ossification in muscle tissue Small cervical vertebral bodies Ectopic ossification Fibrosarcoma Osteochondroma Combined immunodeficiency Restrictive ventilatory defect Abnormality of dental morphology Spastic diplegia Hypotelorism Metaphyseal dysplasia Disproportionate short stature Short finger Flared metaphysis Rocker bottom foot Elbow flexion contracture Aortic valve stenosis Mandibular prognathia Ovoid vertebral bodies Short neck Hypertelorism Central nervous system degeneration Congenital hemolytic anemia Chronic hemolytic anemia Abnormal posturing Normochromic anemia Thoracic kyphosis Hypoplastic ilia Cholecystitis Abnormality of the eye Spontaneous abortion Hoarse voice Hydrops fetalis Ascites Nephropathy Corneal opacity Joint stiffness Hypoplastic iliac body Small epiphyses Cervical subluxation Cervical cord compression Broad phalanx Atlantoaxial dislocation J-shaped sella turcica Shallow acetabular fossae Hypoplasia of the capital femoral epiphysis Delayed ossification of carpal bones Nonspherocytic hemolytic anemia Diaphragmatic paralysis Laryngomalacia Ragged-red muscle fibers Erythroid hyperplasia Hypochromic anemia Sideroblastic anemia Distichiasis Stroke-like episode Increased serum ferritin Microcytic anemia EMG abnormality Chronic lactic acidosis Delayed puberty Stroke Myoclonus Abnormality of metabolism/homeostasis Long philtrum Short nose High palate Generalized limb muscle atrophy Peripheral neuropathy Abnormality of immune system physiology Neuronal loss in central nervous system Macrocytic anemia Cholelithiasis Decreased nerve conduction velocity Involuntary movements Intention tremor Oligohydramnios Optic disc pallor Dyskinesia Tremor Unsteady gait Abnormal pyramidal sign Babinski sign Hyporeflexia Areflexia Dystonia Fatigue Gait disturbance Abnormality of vision Decreased muscle mass Nephritis Osteolytic defects of the phalanges of the hand Delayed eruption of permanent teeth Persistence of primary teeth Abnormal pattern of respiration Low back pain Small face Ridged nail Spondylolisthesis Osteopetrosis Absent frontal sinuses Abnormality of the clavicle Abnormality of the vertebral column Agenesis of permanent teeth Prominent occiput Osteomyelitis Abnormality of the thorax Increased susceptibility to fractures Delayed eruption of primary teeth Snoring Sleep apnea Cerebral calcification Systemic lupus erythematosus Encephalitis Purpura Recurrent bacterial infections Abnormal lung morphology Recurrent otitis media Hepatitis Micromelia Spondylolysis Abnormality of the cerebral white matter Autoimmunity Hypothyroidism Severe short stature Immunodeficiency Abnormal pelvis bone ossification Persistent open anterior fontanelle Osteolytic defects of the distal phalanges of the hand Abnormality of pelvic girdle bone morphology Osteolysis Pulmonary fibrosis Cognitive impairment Brachycephaly Prominent forehead Malar flattening Abnormality of the dentition Hydrocephalus Frontal bossing Macrocephaly Lipogranulomatosis High forehead Periarticular subcutaneous nodules Cherry red spot of the macula Hoarse cry Psychomotor deterioration Histiocytosis Nonimmune hydrops fetalis Joint swelling Proptosis Craniosynostosis Abnormality of the fingernails Small nail Narrow palate Wormian bones Abnormality of the nail Increased bone mineral density Bone pain Abnormality of epiphysis morphology Abnormality of the face Abnormality of the skin Narrow chest Growth hormone deficiency Prominent nose Hypoplasia of the maxilla Postural instability Recurrent fractures Delayed eruption of teeth Short distal phalanx of finger Carious teeth Increased hepatocellular lipid droplets



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