Anemia, and Aganglionic megacolon

Diseases related with Anemia and Aganglionic megacolon

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


Top matches:

Low match PIEBALDISM


Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.

PIEBALDISM Is also known as piebaldism

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Neoplasm


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PIEBALDISM

Low match OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1


Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by Aker et al., 2012). Genetic Heterogeneity of Autosomal Recessive OsteopetrosisOther forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 (OMIM ), which is caused by mutation in the CLCN7 gene (OMIM ) on chromosome 16p13, and OPTB5 (OMIM ), which is caused by mutation in the OSTM1 gene (OMIM ) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2 ) is caused by mutation in the TNFSF11 gene (OMIM ) on chromosome 13q14, an intermediate form (OPTB6 ) is caused by mutation in the PLEKHM1 gene (OMIM ) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7 ) is caused by mutation in the TNFRSF11A gene (OMIM ) on chromosome 18q22. Another form of autosomal recessive osteopetrosis (OPTB8 ) is caused by mutation in the SNX10 gene (OMIM ) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3 ) is caused by mutation in the CA2 gene (OMIM ) on chromosome 8q21.Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, {607634}).

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 Is also known as marble bones, autosomal recessive|osteopetrosis, infantile malignant 1|albers-schonberg disease, autosomal recessive

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1

Low match ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME


X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME Is also known as atr-x syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME

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Other less relevant matches:

Low match JOUBERT SYNDROME WITH OCULORENAL DEFECT


Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease.

JOUBERT SYNDROME WITH OCULORENAL DEFECT Is also known as coloboma, chorioretinal, with cerebellar vermis aplasia|arima syndrome|js-or|js type b|cerebellooculorenal syndrome|joubert syndrome with senior-loken syndrome|cors|joubert syndrome with bilateral chorioretinal coloboma|cerebrooculohepatorenal syndrome|de

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH OCULORENAL DEFECT

Low match ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX


ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX Is also known as alpha-thalassemia/mental retardation syndrome, nondeletion type|atr, nondeletion type|atr-x syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX

Low match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Low match DOWN SYNDROME


Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

DOWN SYNDROME Is also known as trisomy 21

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOWN SYNDROME

Low match CARTILAGE-HAIR HYPOPLASIA


Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

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 ONDINE SYNDROME


Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.

ONDINE SYNDROME Is also known as congenital central alveolar hypoventilation syndrome|autonomic control, congenital failure of|central congenital hypoventilation syndrome|ondine curse, congenital|cchs|ondine curse

Related symptoms:

  • Seizures
  • Strabismus
  • Muscular hypotonia
  • Pain
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about ONDINE SYNDROME

Top 5 symptoms//phenotypes associated to Anemia and Aganglionic megacolon

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Strabismus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cognitive impairment Anteverted nares Epicanthus Blindness Hydrocephalus Constipation Neoplasm Short nose Postural instability Hepatomegaly Thick lower lip vermilion Depressed nasal ridge Wide nasal bridge Leukemia Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Hypertelorism Depressed nasal bridge Visual impairment Growth delay Scoliosis Generalized hypotonia Macroglossia Feeding difficulties Flat face Brachydactyly Pain Depressivity Behavioral abnormality Hydronephrosis Microcephaly Myopia Global developmental delay Respiratory insufficiency Hypertension Hearing impairment

Rare Symptoms - Less than 30% cases


Recurrent urinary tract infections Kyphoscoliosis Everted lower lip vermilion Abnormality of the cardiovascular system Telecanthus Male pseudohermaphroditism Ambiguous genitalia Abnormality of the kidney Volvulus Gastroesophageal reflux Abnormal hemoglobin Autism Tented upper lip vermilion Intellectual disability, severe U-Shaped upper lip vermilion Hypoxemia Low-set ears Abnormal facial shape Hydroureter Diarrhea Protruding tongue Chronic constipation Triangular mouth Severe vision loss Malar flattening Abnormality of the skeletal system Cardiomyopathy Pneumonia Gastrointestinal hemorrhage Posteriorly rotated ears Dilatation Abnormal heart morphology Hypoglycemia Thrombocytosis Polycythemia Microtia Autistic behavior Apnea Lymphoma Ptosis Malabsorption Umbilical hernia Neutropenia Hepatosplenomegaly Neoplasm of the central nervous system Brachycephaly Overweight Obesity Thrombocytopenia Decreased antibody level in blood Recurrent infections Short neck Joint laxity Visual loss Splenomegaly Macrocephaly Optic atrophy Clinodactyly of the 5th finger Failure to thrive Nystagmus Complete atrioventricular canal defect Tibial bowing Hypocalcemia Ataxia Hypopigmentation of the skin Flexion contracture Breast carcinoma Sensorineural hearing impairment Short palm Talipes equinovarus Abnormality of the dentition Cryptorchidism Neoplasm of the skin Midface retrusion Hypotrichosis Transient myeloproliferative syndrome Abnormal cardiac septum morphology Crackles Renovascular hypertension Brushfield spots Embryonal rhabdomyosarcoma Inguinal freckling Atlantoaxial instability Axillary freckling Neutrophilia Spinal neurofibromas Abnormality of the fontanelles or cranial sutures Shallow acetabular fossae Duodenal stenosis Abnormality of the lymphatic system Round ear Acute promyelocytic leukemia Plexiform neurofibroma Neurofibrosarcoma Macrotia Prominent forehead Severe short stature Vestibular Schwannoma EEG abnormality Alopecia Neuroma Carcinoma Myeloproliferative disorder Left-to-right shunt Delayed skeletal maturation Hyperlordosis Sparse hair Immunodeficiency Optic nerve glioma Subcutaneous neurofibromas Skeletal dysplasia Acute megakaryocytic leukemia Arterial fibromuscular dysplasia Acute lymphoblastic leukemia Cerebral artery stenosis Sandal gap Narrow mouth Decreased fertility Hypothyroidism Alzheimer disease Conductive hearing impairment Cholelithiasis Developmental regression Renal hypoplasia/aplasia Anal atresia Upslanted palpebral fissure Postaxial polydactyly Pectus carinatum Downturned corners of mouth Single transverse palmar crease Bilateral single transverse palmar creases Open mouth Type II diabetes mellitus Microdontia Polydactyly Dementia Short middle phalanx of the 5th finger Thickened nuchal skin fold Pulmonary edema Tibial pseudoarthrosis Brow ptosis Cataract Acute monocytic leukemia Senile plaques Hypoplastic iliac wing Double outlet right ventricle Gait disturbance Atrioventricular canal defect Neurofibrillary tangles Congenital hypothyroidism Impaired pain sensation Abnormality of immune system physiology Abnormality of blood and blood-forming tissues Prematurely aged appearance Transposition of the great arteries Broad palm Edema Narrow palate Genu varum Arthrogryposis multiplex congenita Narrow vertebral interpedicular distance Pulmonary lymphoma Susceptibility to chickenpox Flaring of lower rib cage Absent pubertal growth spurt Abnormality of humoral immunity Biconvex vertebral bodies Severe T-cell immunodeficiency Sparse facial hair Impaired lymphocyte transformation with phytohemagglutinin Metaphyseal dysostosis Non-Hodgkin lymphoma Long fibula Abnormality of the distal phalanx of finger Tachycardia Abnormal T cell morphology Hypoplastic anemia Abnormally ossified vertebrae Abnormal bone ossification Neonatal short-limb short stature Congenital hypoplastic anemia Spinal dysraphism Large face Hypersplenism Normocytic anemia Mucopolysacchariduria Abnormal diaphysis morphology Diaphyseal thickening Vertigo Hypotension Abnormality of chromosome stability Abnormality of the mouth Abnormality of the autonomic nervous system Ganglioneuroblastoma Ganglioneuroma Snoring Abnormality of temperature regulation Central hypoventilation Abnormal pupil morphology Chronic lung disease Abnormality of the endocrine system Hypothermia Cardiorespiratory arrest Obstructive sleep apnea Hypoventilation Orthostatic hypotension Neuroblastoma Polyphagia Sleep apnea Abnormal autonomic nervous system physiology Increased body weight Abnormal lung morphology Cyanosis Respiratory tract infection Anxiety Hyperhidrosis Downslanted palpebral fissures Fever Recurrent hypoglycemia Bronchiolitis Metaphyseal cupping Narrow chest Rhizomelia Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Sacral dimple Reduced tendon reflexes Abnormal palate morphology Accelerated skeletal maturation Sparse eyelashes Short ribs Lymphopenia Sparse and thin eyebrow Gingival overgrowth Abnormality of retinal pigmentation Abnormality of epiphysis morphology Portal hypertension Bronchiectasis Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the metaphysis Fine hair Blue sclerae Lumbar hyperlordosis Abnormality of the ribs Convex nasal ridge Small hand Joint hypermobility Micromelia Joint hyperflexibility Single ventricle Metaphyseal widening Cellular immunodeficiency Distal arthrogryposis Metaphyseal chondrodysplasia Aplasia/Hypoplasia affecting the eye Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the pancreas Aplastic anemia B-cell lymphoma Generalized joint laxity Tracheal stenosis Fair hair Heart block Upper limb undergrowth Exocrine pancreatic insufficiency Esophageal atresia Cone-shaped epiphysis Hypoplasia of the odontoid process Anal stenosis Hodgkin lymphoma Macrocytic anemia Metaphyseal dysplasia High hypermetropia Abnormality of the hip bone Basal cell carcinoma Limited elbow extension Femoral bowing Mesomelia Short thorax Squamous cell carcinoma Renal artery stenosis Cafe-au-lait spot Pseudoarthrosis Retinal dystrophy Multicystic kidney dysplasia Hepatic fibrosis Pachygyria Heterotopia Encephalocele Cerebellar vermis hypoplasia Postaxial hand polydactyly Renal cyst Highly arched eyebrow Nephropathy Hepatic steatosis Iris coloboma Tachypnea Long face Stage 5 chronic kidney disease Severe global developmental delay Prominent nasal bridge Coloboma Abnormality of the liver Wide mouth Dyspnea Renal insufficiency Abnormality of the male genitalia Abnormality of fontanelles Intellectual disability, progressive Aplasia/Hypoplasia of the corpus callosum Dysphasia Tubular atrophy Brainstem dysplasia Occipital meningocele Multiple small medullary renal cysts Renal corticomedullary cysts Aplasia/Hypoplasia of the cerebellar vermis Tubulointerstitial fibrosis Dilated fourth ventricle Congenital hepatic fibrosis Agenesis of cerebellar vermis Abnormality of the hypothalamus-pituitary axis Undetectable electroretinogram Postaxial foot polydactyly Polycystic kidney dysplasia Foot polydactyly Congenital blindness Biparietal narrowing Nephronophthisis Molar tooth sign on MRI Abnormality of neuronal migration Polyuria Hypoplasia of the brainstem Chorioretinal coloboma Polydipsia Hand polydactyly Profound global developmental delay Self-injurious behavior Spasticity White eyelashes Pancytopenia Carious teeth Facial palsy Acidosis Frontal bossing Absent pigmentation of the ventral chest Piebaldism Poliosis Spotty hypopigmentation Abnormality of calvarial morphology White eyebrow Partial albinism Bone marrow hypocellularity White forelock White hair Heterochromia iridis Blue irides Hypopigmentation of hair Macule Abnormality of the ear Albinism Hypopigmented skin patches Synophrys Long philtrum Increased bone mineral density Coxa vara Encephalitis Progressive macrocephaly Abnormality of the face Hypoplasia of penis Abnormality of movement Nausea and vomiting Spastic paraplegia Joint stiffness Feeding difficulties in infancy Cerebral cortical atrophy Agenesis of corpus callosum Sandwich appearance of vertebral bodies Secondary hyperparathyroidism Extramedullary hematopoiesis Elevated alkaline phosphatase Tetany Facial paralysis Choanal stenosis Osteopetrosis Retinal atrophy Renal tubular acidosis Hyperparathyroidism Pathologic fracture Osteomyelitis Flared metaphysis Ophthalmoparesis Renal sodium wasting Dysphagia Soft tissue sarcoma Reduced bone mineral density Multiple cafe-au-lait spots Freckling Neurofibromas Pulmonary fibrosis Hypophosphatemia Sensory axonal neuropathy Clitoral hypertrophy Precocious puberty Back pain Sarcoma Incoordination Venous thrombosis Renal cell carcinoma Atherosclerosis Spina bifida Sensorimotor neuropathy Bone pain Hypsarrhythmia Coarctation of aorta Mitral valve prolapse Tetralogy of Fallot Overgrowth Specific learning disability Recurrent fractures Osteomalacia Increased reactive oxygen species production Peripheral axonal neuropathy Rhabdomyosarcoma Epigastric pain Dural ectasia Leiomyosarcoma Fibular bowing Gastrointestinal stroma tumor Lisch nodules Chronic myelogenous leukemia Renal phosphate wasting Schwannoma Glioma Nasolacrimal duct obstruction Carcinoid tumor Gangrene Paraganglioma Night sweats Anomalous pulmonary venous return Pheochromocytoma Parathyroid adenoma Aqueductal stenosis Astrocytoma Brain neoplasm Myocardial fibrosis Neoplasm of the endocrine system Meningioma Abnormality of skin pigmentation Paresthesia Ventricular septal defect Tapered finger Microcytic anemia Spastic diplegia Radial deviation of finger Infantile muscular hypotonia Drooling Hemivertebrae Coxa valga Aspiration Abnormality of the genital system Renal agenesis Dental malocclusion Thick vermilion border Facial hypotonia Postnatal growth retardation Irritability Intellectual disability, moderate Micropenis Abdominal pain Clinodactyly Hypospadias Abnormality of metabolism/homeostasis Cerebral atrophy Hypertonia Vomiting Shawl scrotum Decreased serum testosterone level Facial asymmetry Headache Genu valgum Pulmonic stenosis Pruritus Attention deficit hyperactivity disorder Paralysis Hypertrophic cardiomyopathy Osteopenia Weight loss Glaucoma Hyperactivity Osteoporosis Intellectual disability, mild Hypochromic microcytic anemia Dysarthria Peripheral neuropathy Delayed speech and language development Hypoganglionosis Hemoglobin H Endometriosis Reduced alpha/beta synthesis ratio Widely-spaced maxillary central incisors Absent frontal sinuses Ileus Perimembranous ventricular septal defect Hypercapnia



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