Anemia, and Hyperglycemia

Diseases related with Anemia and Hyperglycemia

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


Top matches:

Low match HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME


Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.

HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME Is also known as diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia

Related symptoms:

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME

Low match IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME


Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME Is also known as enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy|ipex|autoimmune enteropathy type 1|iddm-secretory diarrhea syndrome|x-linked autoimmunity-allergic dysregulation syndrome|polyendocrinopathy, immune dysfunction, and diarrhea, x-linked|

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME

Low match ISOLATED SEDOHEPTULOKINASE DEFICIENCY


SHPK deficiency is an autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. Additional phenotypic consequences of this deficiency are unclear (summary by Wamelink et al., 2015).

ISOLATED SEDOHEPTULOKINASE DEFICIENCY Is also known as isolated shpk deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED SEDOHEPTULOKINASE DEFICIENCY

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Other less relevant matches:

Low match THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME


Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

Low match DK1-CDG


DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.

DK1-CDG Is also known as cdg-im|cdg im|hypotonia and ichthyosis due to dolichol phosphate deficiency|cdg syndrome type im|congenital disorder of glycosylation type im|congenital disorder of glycosylation type 1m|cdgim|dk1 deficiency|cdg1m|carbohydrate deficient glycoprotein syndr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DK1-CDG

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 H SYNDROME


H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Low match ORTHOSTATIC HYPOTENSION 2; ORTHYP2


Orthostatic hypotension-2 is an autosomal recessive disorder characterized by severe orthostatic hypotension, recurrent hypoglycemia, and low norepinephrine levels. The disorder has onset in infancy or early childhood. Some patients may also have renal dysfunction and reduced life expectancy. The disorder results from a defect in the biosynthesis of norepinephrine from dopamine due to a cofactor deficiency.For a discussion of genetic heterogeneity of ORTHYP, see ORTHYP1 (OMIM ).

Related symptoms:

  • Anemia
  • Hypoglycemia
  • Vertigo
  • Tachycardia
  • Hypotension


SOURCES: OMIM MENDELIAN

More info about ORTHOSTATIC HYPOTENSION 2; ORTHYP2

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

Top 5 symptoms//phenotypes associated to Anemia and Hyperglycemia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Diabetes mellitus Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Pancreatic hypoplasia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Diarrhea Short stature Intrauterine growth retardation Abnormal heart morphology Hypoglycemia Hearing impairment Ketoacidosis Type I diabetes mellitus Motor delay Neurodevelopmental delay Steatorrhea Aspiration Hepatomegaly Intellectual disability Muscular hypotonia Generalized hypotonia Neutropenia Renal insufficiency Sensorineural hearing impairment Ptosis Flexion contracture Hypothyroidism Hepatitis Transient neonatal diabetes mellitus Dehydration

Rare Symptoms - Less than 30% cases


Epicanthus Bilateral ptosis Renal tubular dysfunction Anteverted nares Clinodactyly Pneumonia Aspiration pneumonia Downturned corners of mouth Prominent metopic ridge Polyneuropathy Arrhythmia Congestive heart failure Autoimmune antibody positivity Atrial septal defect Cardiomyopathy Ventricular septal defect Nystagmus Microcephaly Elevated hemoglobin A1c Abnormal cardiac septum morphology Amenorrhea Exocrine pancreatic insufficiency Ichthyosis Severe short stature Hypertelorism Microcytic anemia Lipoatrophy Weight loss Hepatosplenomegaly Coma Hypsarrhythmia Recurrent fractures Delayed skeletal maturation Apnea Elevated hepatic transaminase Hyperkeratosis Alopecia Splenomegaly Blue sclerae Muscle weakness Glycosuria Bilateral sensorineural hearing impairment Recurrent hypoglycemia Brachydactyly Cardiac arrest Malabsorption Inflammatory abnormality of the skin Erythroderma Lymphadenopathy Thrombocytopenia Recurrent infections Ventriculomegaly Sepsis High forehead Arthrogryposis multiplex congenita Immunodeficiency Maternal diabetes Retinopathy Flat face Cleft upper lip Abnormality of the foot Delayed puberty Hypotrichosis Pectus carinatum Narrow iliac wings Full cheeks Abnormality of the kidney Camptodactyly Low-set, posteriorly rotated ears Conductive hearing impairment Pes planus Dyspnea Proptosis Barrel-shaped chest Wide intermamillary distance Growth hormone deficiency Primary amenorrhea Gynecomastia Cone-shaped epiphyses of the phalanges of the hand Hyperpigmentation of the skin Gingival overgrowth Telangiectasia Bronchiectasis Hypertrichosis Hypogonadism Hypertriglyceridemia Epistaxis Epidermal acanthosis Cardiomegaly Mitral valve prolapse Overgrowth Decreased testicular size Micropenis Acute hepatic failure Flattened epiphysis Bilateral coxa valga Enlarged thorax Ivory epiphyses of the phalanges of the hand Abnormality of pancreas morphology Reduced pancreatic beta cells Irregular carpal bones Carpal bone hypoplasia Thoracolumbar kyphosis Small epiphyses Severe intrauterine growth retardation Shortening of all middle phalanges of the fingers Chronic hepatic failure Atlantoaxial dislocation Decreased hip abduction Hip subluxation Central hypothyroidism Intracerebral periventricular calcifications Thin bony cortex Multiple epiphyseal dysplasia Intellectual disability, mild Posteriorly rotated ears Tracheoesophageal fistula Patent ductus arteriosus Anteriorly placed anus Hypergonadotropic hypogonadism Hernia Edema Irregular tarsal ossification Hydrocephalus Iron deficiency anemia Frontal bossing Fever Wide nasal bridge Hyperreflexia Ivory epiphyses of the toes Cholestasis Plagiocephaly Elbow flexion contracture Apraxia Contractures of the joints of the lower limbs Hypovolemia Abnormality of the upper urinary tract Ascites Ketonuria Intestinal malrotation Insulin resistance Generalized myoclonic seizures Peripheral neuropathy Gastrointestinal hemorrhage Generalized tonic-clonic seizures Orthostatic hypotension Hypotension Tachycardia Vertigo Seborrheic keratosis Abnormality of the pancreatic islet cells Vomiting Upper eyelid edema Radial deviation of finger Thickened ears Beta-cell dysfunction Limb joint contracture Mild global developmental delay Abnormality of the immune system Abnormality of the ear Polyuria Polydipsia Short nose Failure to thrive in infancy Progressive neurologic deterioration Confusion Small for gestational age Muscular hypotonia of the trunk Abnormality of the nervous system Long philtrum Retroperitoneal fibrosis Bilateral camptodactyly Osteolysis Increased antibody level in blood Abnormal eyebrow morphology Enlarged kidney Severe sensorineural hearing impairment Episodic fever Polycythemia Scleroderma Elevated erythrocyte sedimentation rate Hallux valgus Varicose veins Leukocytosis Stridor Psoriasiform dermatitis Lipodystrophy Sleep apnea Azoospermia Overweight Hyperbilirubinemia Communicating hydrocephalus Cervical lymphadenopathy Corneal arcus Stiff skin Snoring Episcleritis Panniculitis Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Hyperplasia of the maxilla Decreased serum testosterone level Broad finger Abnormality of cardiovascular system physiology Chronic rhinitis Reticulocytopenia Histiocytosis Skin nodule Nasal obstruction Recurrent pharyngitis Irregular vertebral endplates Short thorax Insulin-resistant diabetes mellitus Situs inversus totalis Macrocytic anemia Secondary amenorrhea Myelodysplasia Polycystic ovaries Cone/cone-rod dystrophy Aminoaciduria Hoarse voice Anorexia Abdominal situs inversus Pancytopenia Villous atrophy Immune dysregulation Abnormality of the skin Aciduria Ileus Intractable diarrhea Megaloblastic anemia Abnormality of the basal ganglia Retinal degeneration Malnutrition Eosinophilia Nephritis Cerebral cortical atrophy Elevated serum creatine phosphokinase Absent speech Dilatation Abnormality of the coagulation cascade Cognitive impairment Sideroblastic anemia Abnormality of the thyroid gland Autoimmune hemolytic anemia Strabismus Thyroiditis Thiamine-responsive megaloblastic anemia Paroxysmal atrial tachycardia Progressive peripheral neuropathy Retinal dystrophy Paresthesia Abnormal intestine morphology Breech presentation Postprandial hyperglycemia Hypochromic anemia Subcortical cerebral atrophy Abnormality of the renal tubule Hypochromic microcytic anemia Cholestatic liver disease Hip dysplasia Diastasis recti Neonatal asphyxia Severe postnatal growth retardation Shallow orbits Hypotelorism Portal hypertension Adducted thumb Arnold-Chiari malformation Chronic diarrhea Abnormal CNS myelination Abnormality of globe location Lethargy Visual loss Stroke Secretory diarrhea Pallor Low-set ears Gastroesophageal reflux Feeding difficulties Macrocephaly Headache Increased urinary sedoheptulose Inguinal hernia Narrow mouth Optic atrophy Cryptorchidism Prominent nasal bridge Ataxia Short foot Myalgia Dilated cardiomyopathy Duodenal atresia Hyperlordosis Thin vermilion border Genu valgum Hypermetropia Platyspondyly Hip dislocation Joint stiffness Irritability Diabetic ketoacidosis Nephropathy Jaundice Osteopenia Acidosis Acholic stools Brachycephaly Upslanted palpebral fissure Osteoporosis Hepatic failure Annular pancreas Obesity Epiphyseal dysplasia Hypoplasia of the odontoid process Hyperuricemia Intestinal atresia Large fontanelles Abnormality of neuronal migration Spondyloepiphyseal dysplasia Preauricular pit Wormian bones Absent gallbladder Coxa valga Abnormality of epiphysis morphology Abnormality of the metaphysis Biliary atresia Meckel diverticulum Microdontia Triangular face Jejunal atresia Kyphosis Dry skin Recurrent pneumonia Bilateral talipes equinovarus Ventricular fibrillation Sacral dimple Ventricular tachycardia Leukopenia Severe muscular hypotonia Sparse eyelashes Nephrotic syndrome Eczema Bradycardia Sparse and thin eyebrow Postnatal microcephaly Thin skin Cyanosis Abnormal bleeding Tetraplegia Abnormality of coagulation Hemolytic anemia Hypertonia Aplasia of the fingers Gait disturbance Depressed nasal bridge Arthritis High palate Spasticity Pain Autoimmunity Adactyly Epileptic spasms Abnormal isoelectric focusing of serum transferrin Reduced antithrombin III activity Type I transferrin isoform profile Aplasia/Hypoplasia of the nipples Congenital hepatic fibrosis Hypoketotic hypoglycemia Myocarditis Clinodactyly of the 4th finger



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