Anemia, and Joint hypermobility

Diseases related with Anemia and Joint hypermobility

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


Top 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 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT


The JPHT syndrome includes the features of both the juvenile polyposis syndrome (JPS ) and hereditary hemorrhagic telangiectasia (HHT ) in a single individual. JPS is characterized by hamartomatous polyps occurring throughout the gastrointestinal tract, resulting in an increased risk of gastrointestinal cancer, and HHT is a vascular dysplasia characterized by telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations (AVMs) of the lungs, liver, brain, and gastrointestinal tract (summary by Gallione et al., 2010).

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT Is also known as jps/hht|polyposis, generalized juvenile, with pulmonary arteriovenous malformation|telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli|juvenile polyposis with hereditary hemorrhagic telangiectasia|jp/hht syndrome

Related symptoms:

  • Neoplasm
  • Anemia
  • Ventriculomegaly
  • Dilatation
  • Visual loss


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT

Low match MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN


Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

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Other less relevant matches:

Low match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1


Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Low match COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1


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

Low match DIAMOND-BLACKFAN ANEMIA 17; DBA17


Related symptoms:

  • Anemia
  • Hyperpigmentation of the skin


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 17; DBA17

Low match AARSKOG-SCOTT SYNDROME; AAS


Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010).

AARSKOG-SCOTT SYNDROME; AAS Is also known as aarskog syndrome, x-linked|faciodigitogenital syndrome|fgdy|faciogenital dysplasia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AARSKOG-SCOTT SYNDROME; AAS

Low match WILSON DISEASE


Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

Low match ACHONDROPLASIA; ACH


Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Low match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Top 5 symptoms//phenotypes associated to Anemia and Joint hypermobility

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Abnormal facial shape Generalized hypotonia Global developmental delay Sensorineural hearing impairment Confusion Short stature Weight loss Hemolytic anemia Joint hyperflexibility Cataract Scoliosis Seizures Depressivity Recurrent urinary tract infections Arthralgia Cor pulmonale Proteinuria Arthritis

Rare Symptoms - Less than 30% cases


Myelopathy Ataxia Psychosis Nystagmus Shawl scrotum Overgrowth Epiphyseal dysplasia Bilateral sensorineural hearing impairment Muscle weakness Pulmonic stenosis Hip dislocation Joint laxity Umbilical hernia Osteoporosis Inguinal hernia Pectus excavatum Hernia Congestive heart failure Respiratory distress Hepatic steatosis Ptosis Osteoarthritis Difficulty walking Spasticity Progressive neurologic deterioration Dementia Thrombocytopenia Back pain Tremor Rigidity Cirrhosis Hydrocephalus Obesity Brachydactyly Hepatomegaly Flexion contracture Pain Pancytopenia Motor delay Memory impairment Aciduria Metabolic acidosis Nephropathy Hepatic failure Abnormality of the nervous system Acidosis Cryptorchidism Paresthesia Cerebral atrophy Renal insufficiency Intellectual disability, mild Dysarthria Fatigue Hyperreflexia Microcephaly Abnormality of extrapyramidal motor function Malar flattening Pes planus Short neck Conductive hearing impairment Aortic aneurysm Downslanted palpebral fissures Delayed speech and language development Cleft palate Strabismus Midface retrusion Clinodactyly Nephrocalcinosis Ventriculomegaly Dilatation Visual loss Hypercalciuria Stroke Arrhythmia Decreased adenosylcobalamin Frontal bossing Macrocephaly Depressed nasal bridge Atypical or prolonged hepatitis Abnormality of the metaphysis Abnormal lung morphology Mixed demyelinating and axonal polyneuropathy Kayser-Fleischer ring Hyperhomocystinemia High nonceruloplasmin-bound serum copper Acute hepatitis Hypersexuality Rhizomelia Poor motor coordination Hypocupremia Abnormality of the skeletal system Abnormal form of the vertebral bodies Tetraparesis Delirium Epidermal acanthosis Lumbar hyperlordosis Otitis media Lymphoma Sleep disturbance Oral cleft Methylmalonic acidemia Chronic hemolytic anemia Abnormality of macular pigmentation Micromelia Severe short stature Leukemia Scarring Hyperlordosis Recurrent otitis media Cleft lip Urogenital fistula Decreased methylcobalamin Skeletal dysplasia Gastroesophageal reflux Apnea Proximal muscle weakness in lower limbs Premature osteoarthritis Aminoaciduria Abnormality of the hand Schizophrenia Drooling Cystathioninuria Hypomethioninemia Decreased methylmalonyl-CoA mutase activity Leukoencephalopathy Leukopenia Diffuse hepatic steatosis Spontaneous abortion Abnormality of mitochondrial metabolism Cystathioninemia Muscle stiffness Increased body weight Bone pain Decreased liver function Nephrolithiasis Involuntary movements Clumsiness Cholestasis Vitamin B12 deficiency Decreased methionine synthase activity Abnormality of the menstrual cycle Increased reactive oxygen species production Retinoblastoma Clonus Menstrual irregularities Neoplasm of the liver Hyperphosphaturia Esophageal varix Chondrocalcinosis Acute hepatic failure Renal tubular dysfunction Hand tremor Personality changes Hypoparathyroidism Hepatocellular carcinoma Joint swelling Abnormality of blood and blood-forming tissues Arthropathy Osteomalacia Glycosuria Pathologic fracture Global brain atrophy Oral-pharyngeal dysphagia Short toe Tinnitus Paraparesis Anorexia Low-set ears Muscular hypotonia Lumbar kyphosis in infancy Myelitis Broad-based gait Spinal stenosis with reduced interpedicular distance Trident hand Limited hip extension Brain stem compression Childhood onset short-limb short stature Pulmonary arterial hypertension Small foramen magnum Iritis Abnormality of retinal pigmentation Cervical cord compression Hypopnea Obstructive lung disease Cervical myelopathy Central sleep apnea Neonatal short-limb short stature Feeding difficulties Pigmentary retinopathy Thoracolumbar kyphosis High forehead Retinopathy Lethargy Congenital cataract Malabsorption Mental deterioration Lower limb muscle weakness Smooth philtrum Macrotia Unsteady gait Retinal degeneration Visual impairment Abnormality of skin pigmentation Long face Hematuria Reduced visual acuity Neutropenia Gait ataxia Cerebral cortical atrophy Intellectual disability, severe Urinary incontinence Respiratory insufficiency Chronic myelogenous leukemia Recurrent ear infections Acanthosis nigricans Flared metaphysis Methylmalonic aciduria Homocystinuria Myeloid leukemia Tibial bowing Limited elbow extension Gastritis Right ventricular failure Bowel incontinence Short femoral neck Hemolytic-uremic syndrome Disproportionate short stature Spondyloepiphyseal dysplasia Atrophy of the spinal cord Chronic otitis media Genu varum Abnormality of pelvic girdle bone morphology Feeding difficulties in infancy Disproportionate short-limb short stature Short long bone Infantile muscular hypotonia Sleep apnea Megaloblastic anemia Neuroblastoma Atherosclerosis Dysuria Hypoxemia Slurred speech Hemiplegia Ectopia lentis Apathy Multiple epiphyseal dysplasia Ascites Abnormality of femur morphology Central apnea Disproportionate tall stature Hip contracture Upper airway obstruction Communicating hydrocephalus Generalized joint laxity Osteopetrosis Megalencephaly Spinal cord compression Obstructive sleep apnea Abnormality of the elbow Thromboembolism Spinal canal stenosis Hepatitis Macrocytic anemia Coma Cutis laxa Atelectasis Premature skin wrinkling Pulmonary artery stenosis Prematurely aged appearance Progressive sensorineural hearing impairment Delayed cranial suture closure Emphysema Redundant skin Shock Wormian bones Ileus Abnormality of the face Congenital diaphragmatic hernia Oligohydramnios Vesicoureteral reflux Full cheeks Recurrent fractures Arachnodactyly Hypothyroidism Recurrent respiratory infections Bladder diverticulum Arterial stenosis Cleft hard palate Cardiomyopathy Muscular hypotonia of the trunk Hypertrophic cardiomyopathy Respiratory failure Hypogonadism Myoclonus Rod-cone dystrophy Elevated serum creatine phosphokinase Encephalopathy Cerebellar atrophy Gait disturbance Ascending tubular aorta aneurysm Optic atrophy Skeletal muscle atrophy Cognitive impairment Renal diverticulum Bowel diverticulosis Arterial fibromuscular dysplasia Supravalvular aortic stenosis Congenital hemolytic anemia Vascular tortuosity Dermal translucency Hypospadias Mild conductive hearing impairment Lactic acidosis Subarachnoid hemorrhage Hepatic arteriovenous malformation Pulmonary arteriovenous malformation Gastrointestinal carcinoma Cerebral arteriovenous malformation Hamartomatous polyposis Cavernous hemangioma Arteriovenous malformation Hematochezia Aortic dissection Iron deficiency anemia Juvenile gastrointestinal polyposis Colon cancer Clubbing Hemangioma Telangiectasia Mitral regurgitation Hemiparesis Epistaxis Mitral valve prolapse Gastrointestinal hemorrhage Intrapulmonary shunt Micrognathia Broad distal phalanx of finger Bifid uvula Elliptocytosis Large forehead Severe sensorineural hearing impairment Mixed hearing impairment Patent foramen ovale Finger clinodactyly Dental crowding Renal dysplasia Esotropia Delayed eruption of teeth Talipes equinovarus Flat face Thin vermilion border Talipes Synophrys Broad forehead Hydronephrosis Thin upper lip vermilion Narrow mouth Clinodactyly of the 5th finger Patent ductus arteriosus Abnormal pyramidal sign Postural instability Polyneuropathy Hypoplasia of the odontoid process Osteochondritis Dissecans Hyperextensibility of the finger joints Broad philtrum Volvulus Large earlobe Widow's peak Short 5th finger Genu recurvatum Broad foot Broad palm Prominent umbilicus Interstitial pulmonary abnormality Mild short stature Radial deviation of finger Increased intracranial pressure Lymphedema Abnormality of the genital system Generalized-onset seizure Round face Hypoplasia of the maxilla Frontoparietal polymicrogyria Increased upper to lower segment ratio Single transverse palmar crease Aggressive behavior Bruising susceptibility Nausea Peripheral axonal neuropathy Poor speech Infertility Nausea and vomiting Abnormality of the cerebral white matter Pruritus Abnormality of the liver Anxiety Curved linear dimple below the lower lip Elevated hepatic transaminase Hepatosplenomegaly Jaundice Splenomegaly Dystonia Vomiting Edema Dysphagia Peripheral neuropathy Cervical spine hypermobility Hypodontia Short foot Muscle cramps Hyperextensible skin Tubular atrophy Myoglobinuria Glomerulopathy Generalized amyotrophy Focal segmental glomerulosclerosis Ophthalmoparesis Glomerulonephritis Glomerulosclerosis Failure to thrive in infancy Ragged-red muscle fibers Steroid-resistant nephrotic syndrome Oculomotor apraxia Exercise intolerance Hypergonadotropic hypogonadism Progressive muscle weakness Status epilepticus Apraxia Nephrotic syndrome Specific learning disability Progressive cerebellar ataxia Scanning speech Glutaric aciduria Short palm Abnormal heart morphology Polymicrogyria Cleft upper lip Delayed puberty Hypermetropia Attention deficit hyperactivity disorder Camptodactyly Abdominal pain Hyperactivity Alopecia Syndactyly Recurrent myoglobinuria Short nose Behavioral abnormality Anteverted nares Ventricular septal defect Wide nasal bridge Hypertelorism Hyperpigmentation of the skin Crescentic glomerulonephritis Rapid neurologic deterioration Exercise-induced myoglobinuria Thyroglossal cyst



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