Anemia, and Intestinal malrotation

Diseases related with Anemia and Intestinal malrotation

In the following list you will find some of the most common rare diseases related to Anemia and Intestinal malrotation 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 COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM


COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM Is also known as cid-mia/early-onset ibd

Related symptoms:

  • Intrauterine growth retardation
  • Ventricular septal defect
  • Immunodeficiency
  • Polyhydramnios
  • Sparse hair


SOURCES: ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM

Low match MULTIPLE INTESTINAL ATRESIA


Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.

MULTIPLE INTESTINAL ATRESIA Is also known as intestinal atresia, multiple|minat|intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency|fipa|familial intestinal polyatresia syndrome

Related symptoms:

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Abnormality of the skeletal system
  • Ventricular septal defect


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MULTIPLE INTESTINAL ATRESIA

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Other less relevant matches:

Low match JOHANSON-BLIZZARD SYNDROME


Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

Low match VACTERL/VATER ASSOCIATION


VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

VACTERL/VATER ASSOCIATION Is also known as vacterl association|vater association

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about VACTERL/VATER ASSOCIATION

Low match THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR


The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia (see {227650}). Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee (summary by Albers et al., 2012).

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR Is also known as tar syndrome|chromosome 1q21.1 deletion syndrome, 200-kb

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR

Low match KABUKI SYNDROME 1; KABUK1


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

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 CORNELIA DE LANGE SYNDROME 1; CDLS1


The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

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

Top 5 symptoms//phenotypes associated to Anemia and Intestinal malrotation

Symptoms // Phenotype % cases
Ventricular septal defect Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Intrauterine growth retardation Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormal heart morphology Atrial septal defect Abnormal cardiac septum morphology Duodenal atresia Short stature Failure to thrive Strabismus Cryptorchidism Pneumonia Cleft palate Postnatal growth retardation Hearing impairment Hypospadias Scoliosis Anal atresia Abnormality of the skeletal system Sepsis Congenital diaphragmatic hernia Decreased antibody level in blood Micrognathia Seizures Hypoplasia of the radius Abnormality of the kidney Generalized hypotonia Microcephaly Sensorineural hearing impairment Respiratory tract infection Intellectual disability, severe Abnormality of the dentition Talipes equinovarus Clinodactyly of the 5th finger Severe short stature Hydronephrosis Microdontia Ptosis Small for gestational age Single transverse palmar crease Blue sclerae Hashimoto thyroiditis Intestinal atresia Immunodeficiency Polyhydramnios Autoimmunity Abdominal distention Omphalocele Hyperbilirubinemia Malabsorption Diarrhea Autoimmune hemolytic anemia

Rare Symptoms - Less than 30% cases


Dextrocardia Hydrocephalus Clinodactyly Hypoglycemia Patent ductus arteriosus Hypoplasia of penis Cafe-au-lait spot Abnormality of the pinna Situs inversus totalis Astigmatism Syndactyly Neoplasm Hirsutism Hydroureter Highly arched eyebrow Otitis media Long eyelashes Increased body weight Finger syndactyly Abnormality of the urinary system Widely spaced teeth Abnormality of the pancreas Rectovaginal fistula Anal stenosis Hypoplastic nipples Optic nerve coloboma Hernia Brachycephaly Pulmonary hypoplasia Bundle branch block Anteverted nares Depressed nasal bridge Glaucoma Hip dislocation Anorectal anomaly Vertebral clefting Supernumerary ribs Ureteropelvic junction obstruction Absent radius Coarctation of aorta Transposition of the great arteries Right bundle branch block Growth hormone deficiency Ectopic kidney Myopia Horseshoe kidney Spina bifida Abnormal vertebral morphology Renal dysplasia Recurrent urinary tract infections Choanal atresia Small nail Tetralogy of Fallot Patellar dislocation Phocomelia Abnormal facial shape High palate Wide nasal bridge Vesicoureteral reflux Feeding difficulties Thrombocytopenia Abnormality of the ductus choledochus Psoriasiform dermatitis Jejunoileal ulceration Tracheoesophageal fistula Rectal abscess Bloody diarrhea Muscular hypotonia Ectopic calcification Hypoplasia of the thymus Severe combined immunodeficiency Sparse hair Alopecia of scalp Absent eyebrow Thyroiditis Hemolytic anemia Type I diabetes mellitus Delayed skeletal maturation Abnormality of cardiovascular system morphology Thickened skin Dilatation Long philtrum Nail dystrophy Edema Cardiomyopathy Hepatitis Hypertension Hypothyroidism Micropenis Anteriorly placed anus Meckel diverticulum Diabetes mellitus Peritoneal abscess Delayed eruption of teeth Gastrointestinal atresia Joint laxity Cleft lip Congenital cystic adenomatoid malformation of the lung Alopecia Downturned corners of mouth Jejunal atresia Biliary atresia Hypertelorism Nystagmus Low-set ears Recurrent ear infections Congenital mitral stenosis Anterior plagiocephaly Trichorrhexis nodosa Broad philtrum Small face Diaphragmatic eventration Prominent fingertip pads Anoperineal fistula Crossed fused renal ectopia Prominent eyelashes Premature thelarche Eversion of lateral third of lower eyelids Sclerosing cholangitis Single ventricle Short nasal septum Pilonidal sinus Bronchomalacia Common atrium Epibulbar dermoid Vertical orbital dystopia Nocturnal lagophthalmos Abnormality of the middle ear Recurrent aspiration pneumonia Liver abscess Cholangitis Hypoplasia of the maxilla Ascites Polymicrogyria Sparse and thin eyebrow Heterotopia Recurrent otitis media Dental malocclusion Prominent nose Hypodontia Iron deficiency anemia Severe intrauterine growth retardation Wide nose Joint hypermobility Congenital hip dislocation Ketoacidosis Coloboma Paralysis Protruding ear Maternal diabetes Feeding difficulties in infancy Intellectual disability, moderate Anxiety Jaundice Pes planus Hyperglycemia Purpura Mitral stenosis Cerebellar vermis atrophy Retinal coloboma Short 5th finger Depressed nasal tip Short columella Vitiligo Delayed speech and language development Overweight Autoimmune thrombocytopenia IgA deficiency Congenital hypothyroidism Severe hearing impairment Abnormal dermatoglyphics Long palpebral fissure Celiac disease Preauricular pit Bilateral cryptorchidism Cupped ear Precocious puberty Brittle hair Failure to thrive in infancy Poor suck Gastrointestinal hemorrhage Scaphocephaly Inguinal hernia Fever 2-3 toe syndactyly Aspiration pneumonia Hiatus hernia Poor appetite Ectrodactyly Oligodactyly Dislocated radial head Weak cry Abnormality of digit Limited elbow extension Opisthotonus Short middle phalanx of finger Hypoplastic labia majora Cutis marmorata Tricuspid regurgitation Clubbing Proximal placement of thumb Self-injurious behavior Pyloric stenosis Short metatarsal Deep philtrum Incoordination Relative macrocephaly Esophagitis Abnormality of the gastrointestinal tract Spontaneous abortion Esophageal stenosis Dysplastic tricuspid valve Hypoplastic radial head Abnormality of the umbilicus Reduced renal corticomedullary differentiation Otitis media with effusion Malrotation of colon Duplication of internal organs Projectile vomiting Left-to-right shunt Hypertropia Hypoplastic male external genitalia Thick upper lip vermilion Curly eyelashes Absent hand Gastroparesis Hand oligodactyly Perimembranous ventricular septal defect Short sternum Peters anomaly Panhypopituitarism Volvulus Recurrent hypoglycemia Torticollis Elbow flexion contracture Macrocephaly Autism Telecanthus Hypertrophic cardiomyopathy Aggressive behavior Proteinuria Conductive hearing impairment Thin upper lip vermilion Retrognathia Gastroesophageal reflux Mandibular prognathia Proptosis Narrow mouth Pallor Hyperactivity Hyperhidrosis Prominent forehead Posteriorly rotated ears Headache Behavioral abnormality Hypertonia Vomiting Short neck Optic atrophy Camptodactyly Autistic behavior Low anterior hairline Tapered finger Aspiration Hypertrichosis Low posterior hairline Renal hypoplasia High myopia Webbed neck Triangular face Renal cyst Microcornea Sleep disturbance Small hand Craniosynostosis High, narrow palate Thick eyebrow Thin vermilion border Cleft upper lip Vertigo Micromelia Toe syndactyly Pulmonic stenosis Synophrys Prominent nasal bridge Macrotia Shoulder muscle hypoplasia Visual loss Renal agenesis Abnormality of abdomen morphology Abnormality of the genital system Hematochezia Duodenal stenosis Abnormality of the ribs Microcolon Ambiguous genitalia Decreased proportion of CD8-positive T cells Premature birth Short thumb Cognitive impairment Tachycardia Facial asymmetry Hepatomegaly Fatigue Low-set, posteriorly rotated ears Polydactyly Short nose Congestive heart failure Large fontanelles Combined immunodeficiency Midline skin dimples over anterior/posterior fontanelles Bifid scrotum Occipital encephalocele Abnormality of the sternum Non-midline cleft lip Vertebral segmentation defect Hypoplastic left heart Scarring Lymphopenia Preaxial hand polydactyly Unilateral renal agenesis Triphalangeal thumb Preauricular skin tag Radioulnar synostosis Preaxial polydactyly Laryngomalacia Abnormal intestine morphology Tachypnea Abnormality of the outer ear Multicystic kidney dysplasia Hemivertebrae Inflammation of the large intestine Dysphagia Hypoplasia of the primary teeth Recurrent abscess formation Severe muscular hypotonia Agenesis of permanent teeth Steatorrhea Congenital sensorineural hearing impairment Clitoral hypertrophy Portal hypertension Abnormality of the genitourinary system Oligodontia Abnormality of the liver Pointed chin Hypopituitarism Hypocalcemia Abnormality of the nail Dilated cardiomyopathy Hypotrichosis Cholestasis Sparse scalp hair Hepatic failure Convex nasal ridge Underdeveloped nasal alae Glycosuria Elevated hepatic transaminase Urethrovaginal fistula Frontal upsweep of hair Abnormality of the female genitalia Malrotation of small bowel Anasarca Septate vagina Absent lacrimal punctum Increased VLDL cholesterol concentration Colonic diverticula Abnormality of the nares Uterus didelphys Skin dimples Facial cleft Aplasia cutis congenita of scalp Abnormal vagina morphology Lacrimation abnormality Upslanted palpebral fissure Hypoproteinemia Abnormal hair pattern Calvarial skull defect Fair hair Exocrine pancreatic insufficiency Wheezing Aplasia/Hypoplasia of the radius Pancreatic hypoplasia Fibular aplasia Renal malrotation Bilateral radial aplasia Abnormality of the shoulder Aplasia/Hypoplasia of the ulna Cervical ribs Generalized tonic-clonic seizures with focal onset Lateral clavicle hook Carpal bone hypoplasia Pancreatic cysts Edema of the dorsum of hands Cavum septum pellucidum Aplasia of the uterus Fused cervical vertebrae Seborrheic dermatitis Patellar aplasia Allergy Delayed CNS myelination Aplastic anemia Chromosome breakage Intermittent thrombocytopenia Aplasia/hypoplasia of the humerus Carpal synostosis Epicanthus Depressivity Obesity Recurrent infections Renal insufficiency Kyphosis Intellectual disability, mild Absent gallbladder Annular pancreas Brachydactyly Diabetic ketoacidosis Nevus flammeus of the forehead Acholic stools Cow milk allergy Axial malrotation of the kidney Generalized muscle weakness Tetraphocomelia Lactose intolerance Edema of the dorsum of feet Tibial torsion Amegakaryocytic thrombocytopenia Cardiorespiratory arrest Nevus flammeus Anencephaly Abnormality of the nasopharynx Perineal fistula Potter facies Abnormality of the gallbladder Hemifacial hypoplasia Absence of the sacrum Abnormality of the urethra Abnormality of the intervertebral disk Lower limb undergrowth Laryngeal stenosis Abnormal sacrum morphology Asymmetric crying face Tethered cord Cavernous hemangioma Abnormality of female internal genitalia Atelectasis Tracheal stenosis Single umbilical artery Missing ribs Aplasia/Hypoplasia of the lungs Esophageal atresia Abnormal tracheobronchial morphology Patent urachus Megalocornea Broad thumb Focal impaired awareness seizure Intracranial hemorrhage Genu varum Eosinophilia Adducted thumb Hemangioma Coxa valga Short phalanx of finger Left ventricular hypertrophy Cerebellar vermis hypoplasia Cataract Ventricular hypertrophy Focal-onset seizure Severe global developmental delay Leukemia Hepatosplenomegaly Agenesis of corpus callosum Cerebellar hypoplasia Malar flattening Motor delay Hyperpigmentation of the skin



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Retrognathia, related diseases and genetic alterations Optic atrophy and Mandibular prognathia, related diseases and genetic alterations Cryptorchidism and Sarcoma, related diseases and genetic alterations Cleft palate and Muscle cramps, related diseases and genetic alterations Cataract and Renal hypoplasia, related diseases and genetic alterations

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