Anemia, and Insulin resistance

Diseases related with Anemia and Insulin resistance

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


Top matches:

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 HEMOCHROMATOSIS, TYPE 1; HFE1


Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe|hemochromatosis, hereditary|hemochromatosis|hh

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 1; HFE1

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

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Other less relevant matches:

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 WOLCOTT-RALLISON SYNDROME


Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.

WOLCOTT-RALLISON SYNDROME Is also known as iddm-med syndrome|med-iddm syndrome|wolcott-rallison syndrome|wrs|early-onset diabetes mellitus with multiple epiphyseal dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOLCOTT-RALLISON SYNDROME

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 TRANSIENT NEONATAL DIABETES MELLITUS


Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.

TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3|tndm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSIENT NEONATAL DIABETES MELLITUS

Low match DIABETES MELLITUS, PERMANENT NEONATAL; PNDM


Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient (see {601410}) and resolves at a median age of 3 months, whereas the rest have a permanent insulin-dependent form of diabetes (PNDM). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes (see {125853}) appears later in life (Arthur et al., 1997). PNDM is distinct from childhood-onset autoimmune diabetes mellitus type I (IDDM ).Massa et al. (2005) noted that the diagnostic time limit for PNDM has changed over the years, ranging from onset within 30 days of birth to 3 months of age. However, as patients with the clinical phenotype caused by mutation in the KCNJ11 gene have been identified with onset up to 6 months of age, Massa et al. (2005) suggested that the term 'permanent diabetes mellitus of infancy' (PDMI) replace PNDM as a more accurate description, and include those who present up to 6 months of age. The authors suggested that the new acronym be linked to the gene product (e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion with patients with early-onset, autoimmune type I diabetes.Colombo et al. (2008) proposed that, because individuals with INS gene mutations may present with diabetes well beyond 6 months of age and cannot be distinguished from patients with type 1 diabetes except for the absence of type 1 diabetes autoantibodies, the term PNDM should be replaced with 'monogenic diabetes of infancy (MDI),' a broad definition including any form of diabetes, permanent or transient, with onset during the first years of life and caused by a single gene defect.

DIABETES MELLITUS, PERMANENT NEONATAL; PNDM Is also known as diabetes mellitus, permanent, of infancy|pdmi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIABETES MELLITUS, PERMANENT NEONATAL; PNDM

Low 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

Top 5 symptoms//phenotypes associated to Anemia and Insulin resistance

Symptoms // Phenotype % cases
Diabetes mellitus Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypothyroidism Uncommon - Between 30% and 50% cases
Intrauterine growth retardation Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypogonadism Short stature Hearing impairment Ataxia Intellectual disability Peripheral neuropathy Hepatomegaly Seizures Gait disturbance Hypergonadotropic hypogonadism Microcephaly Osteoporosis Ptosis Osteopenia Pain Abnormal facial shape Growth delay Dehydration Cataract Cryptorchidism Motor delay Failure to thrive Small for gestational age Downturned corners of mouth Severe short stature Transient neonatal diabetes mellitus Type I diabetes mellitus Hyperglycemia Weight loss Abnormal heart morphology Abnormality of the liver Babinski sign Pes cavus

Rare Symptoms - Less than 30% cases


Polyneuropathy Neutropenia Prominent nasal bridge Prominent metopic ridge Bilateral ptosis Abnormal pyramidal sign Postnatal growth retardation Deeply set eye High forehead Midface retrusion Obesity Thrombocytopenia Synophrys Long philtrum Hypoplasia of the corpus callosum Ventriculomegaly Hip dislocation Irritability Abnormality of the skeletal system Strabismus Nystagmus Hypermetropia Anteverted nares Autoimmune antibody positivity Truncal obesity Hydrocephalus Flexion contracture Coma Micrognathia Scoliosis Generalized hypotonia Hypertonia Kyphosis Microphthalmia Brachycephaly Ectopic kidney Triangular face Bilateral cryptorchidism Leukopenia Bone marrow hypocellularity Arthralgia Joint stiffness Genu valgum Apraxia Sloping forehead Bradykinesia Renal agenesis Elevated hemoglobin A1c Clinodactyly Acute hepatic failure Dilated cardiomyopathy Telangiectasia Glycosuria Hepatic failure Hypertelorism Elevated hepatic transaminase Hepatitis Carcinoma Muscular hypotonia Ketoacidosis Recurrent infections Renal tubular dysfunction Pancreatic hypoplasia Steatorrhea Upslanted palpebral fissure Abnormal glucose tolerance Narrow iliac wings Congestive heart failure Cardiomyopathy Fatigue High palate Renal insufficiency Irregular vertebral endplates Insulin-resistant diabetes mellitus Neurodevelopmental delay Epicanthus Azoospermia Alcoholism Arthropathy Progressive neurologic deterioration Epiphyseal dysplasia Hypsarrhythmia Confusion Hyperuricemia Muscular hypotonia of the trunk Abnormality of the nervous system Aspiration Aspiration pneumonia Failure to thrive in infancy Polydipsia Radial deviation of finger Polyuria Abnormality of the ear Abnormality of the immune system Spondyloepiphyseal dysplasia Mild global developmental delay Limb joint contracture Beta-cell dysfunction Thickened ears Clinodactyly of the 4th finger Cleft palate Visual impairment Hyperreflexia Hypoplasia of the odontoid process Muscle weakness Pneumonia Abnormality of pancreas morphology Flattened epiphysis Irregular tarsal ossification Short thorax Central hypothyroidism Intracerebral periventricular calcifications Ivory epiphyses of the phalanges of the hand Hip subluxation Decreased hip abduction Abnormality of epiphysis morphology Abnormality of the metaphysis Reduced pancreatic beta cells Irregular carpal bones Bilateral coxa valga Coxa valga Atlantoaxial dislocation Chronic hepatic failure Shortening of all middle phalanges of the fingers Preauricular pit Ivory epiphyses of the toes Thoracolumbar kyphosis Short nose Abnormality of the upper urinary tract Exocrine pancreatic insufficiency Overweight Vomiting Wormian bones Abnormality of the pancreatic islet cells Contractures of the joints of the lower limbs Hypovolemia Cone-shaped epiphyses of the phalanges of the hand Ketonuria Carpal bone hypoplasia Maternal diabetes Barrel-shaped chest Multiple epiphyseal dysplasia Thin bony cortex Small epiphyses Generalized myoclonic seizures Arthrogryposis multiplex congenita Enlarged thorax Generalized tonic-clonic seizures Abnormality of neuronal migration Abnormality of skin pigmentation Fever Abnormality of the upper limb Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the testis Abnormality of the uterus Aplastic anemia B-cell lymphoma Abnormality of chromosome stability Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage Hearing abnormality External ear malformation Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Absent radius Abnormality of blood and blood-forming tissues Acute myeloid leukemia Abnormal localization of kidney Reticulocytopenia Myeloid leukemia Hypoplastic anemia Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA 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 Abnormal aortic morphology Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Multiple cafe-au-lait spots Absent thumb Frontal bossing Abnormality of the kidney Bruising susceptibility Vertigo Astigmatism Anal atresia Facial asymmetry Abnormality of the foot Toe syndactyly Dolichocephaly Finger syndactyly Leukemia Abnormal cardiac septum morphology Abnormality of the eye Lymphoma Hypertrophic cardiomyopathy Pes planus Umbilical hernia Proptosis Clinodactyly of the 5th finger Patent ductus arteriosus Hypospadias Abnormality of cardiovascular system morphology Headache Atrial septal defect Respiratory distress Hypopigmentation of the skin Tetralogy of Fallot Hydroureter Renal hypoplasia/aplasia Squamous cell carcinoma Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Triphalangeal thumb Myelodysplasia Hyperinsulinemia Abnormality of the urinary system Abnormality of vision Reduced bone mineral density Hypopigmented skin patches Cranial nerve paralysis Oligohydramnios Horseshoe kidney Spina bifida Abnormal vertebral morphology Short thumb Cafe-au-lait spot Recurrent urinary tract infections Aganglionic megacolon Abnormality of the genital system Choanal atresia Short palpebral fissure Pancytopenia Blue sclerae Restlessness Microdontia Inguinal hernia Long face Dysmetria Short philtrum Attention deficit hyperactivity disorder Retinopathy Sparse hair Rigidity Mandibular prognathia Micropenis Hernia Sensory neuropathy Immunodeficiency Tremor Dysarthria Delayed speech and language development Cognitive impairment Sensorineural hearing impairment Elevated transferrin saturation Aceruloplasminemia Constrictive pericarditis Falls Broad nasal tip Increased serum iron Short chin Cortical gyral simplification High pitched voice Sensory axonal neuropathy Unilateral renal agenesis Postural tremor Dysdiadochokinesis Slurred speech Goiter Acanthosis nigricans Lymphopenia Progressive cerebellar ataxia Abnormal lung morphology Broad-based gait Cutaneous photosensitivity Renal hypoplasia Epidermal acanthosis Hypotelorism Pigmentary retinopathy Limb undergrowth Decreased testicular size Convex nasal ridge Cholangiocarcinoma Microvesicular hepatic steatosis Cerebellar vermis atrophy Coronary artery atherosclerosis Neuropathic arthropathy Decreased LDL cholesterol concentration Hyperlipoproteinemia Gout Oligomenorrhea Lipoma Macrocytic anemia Multiple lipomas Axonal degeneration Oral-pharyngeal dysphagia Abnormal adipose tissue morphology Abnormality of mitochondrial metabolism Ragged-red muscle fibers Reduced tendon reflexes Hoarse voice Myocardial infarction Abnormality of the skin Muscle cramps Tachycardia Paresthesia Hypertension Increased HDL cholesterol concentration Splenomegaly Testicular atrophy Pleural effusion Restrictive cardiomyopathy Neoplasm of the liver Increased reactive oxygen species production Increased serum ferritin Hepatocellular carcinoma Pericarditis Osteomalacia Abnormal joint morphology Impotence Hypogonadotrophic hypogonadism Arrhythmia Hepatic fibrosis Hyperpigmentation of the skin Cardiomegaly Amenorrhea Ascites Hepatic steatosis Cirrhosis Arthritis Abdominal pain Alopecia Long nose Abnormality of lipid metabolism Recurrent fractures Hip contracture Bone cyst Generalized osteoporosis Tics Dystrophic fingernails Broad face Progressive gait ataxia Thoracic kyphosis Poor coordination Striae distensae Congenital hypothyroidism Ectopic calcification Sparse body hair Basal ganglia calcification Ankle clonus Mixed hearing impairment Anonychia Metatarsus adductus Melanocytic nevus Self-injurious behavior Schizophrenia Recurrent ear infections Posterior polar cataract Plagiocephaly Diarrhea Nephropathy Thin vermilion border Platyspondyly Hyperlordosis Hypoglycemia Hepatosplenomegaly Jaundice Acidosis Delayed skeletal maturation Brachydactyly Absent axillary hair Depressed nasal bridge Spasticity Superiorly displaced ears Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Motor tics Basilar impression Abnormal palate morphology Osteolysis Increased circulating gonadotropin level Intellectual disability, severe Autism Gait ataxia Agenesis of corpus callosum Areflexia Pectus excavatum Malar flattening Intellectual disability, mild Behavioral abnormality Myopathy Downslanted palpebral fissures Macrotia Macrocephaly Skeletal muscle atrophy Long neck Gastrointestinal stroma tumor Multinodular goiter Glioma Chronic lung disease Shuffling gait Misalignment of teeth Low hanging columella Narrow mouth Conductive hearing impairment Spastic paraparesis Hip dysplasia Knee flexion contracture Paraparesis Clonus Gynecomastia Thickened skin Abnormal form of the vertebral bodies Sparse scalp hair Thick lower lip vermilion Cerebral calcification Otitis media Aggressive behavior Nevus Hypoplasia of the maxilla Neurodegeneration Short distal phalanx of finger Distal amyotrophy Narrow chest Congenital cataract Broad forehead Protruding ear Developmental regression Abnormality of the preputium



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Cirrhosis, related diseases and genetic alterations Lymphoma and Muscular dystrophy, related diseases and genetic alterations Spasticity and Ventriculomegaly, related diseases and genetic alterations Breast carcinoma and Anxiety, related diseases and genetic alterations Cleft palate and Downturned corners of mouth, related diseases and genetic alterations

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