Myopia, and Diarrhea

Diseases related with Myopia and Diarrhea

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


Top matches:

Medium match INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME


Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

Medium match SHWACHMAN-DIAMOND SYNDROME 2; SDS2


Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia (Stepensky et al., 2017).For a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME 2; SDS2

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57


MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected individuals have delayed psychomotor development apparent in infancy or early childhood, language delay, and behavioral abnormalities. Additional features may include hypotonia, feeding problems, gastrointestinal issues, and dysmorphic facial features (summary by Reijnders et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57

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Other less relevant matches:

Low match FAMILIAL DYSAUTONOMIA


Hereditary sensory and autonomic neuropathy, type 3 (HSAN3) is an inherited disorder characterized by sensory dysfunction and severe impairment of the autonomic nervous system activity, resulting in multisystem dysfunction.

FAMILIAL DYSAUTONOMIA Is also known as dysautonomia, familial|dys|hereditary sensory and autonomic neuropathy type iii|hereditary sensory and autonomic neuropathy type 3|hsan3|hsan iii|fd|riley-day syndrome

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FAMILIAL DYSAUTONOMIA

Low match BIOTINIDASE DEFICIENCY


Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.

BIOTINIDASE DEFICIENCY Is also known as multiple carboxylase deficiency, late-onset|multiple carboxylase deficiency, juvenile-onset|btd deficiency|late-onset multiple carboxylase deficiency|juvenile-onset multiple carboxylase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BIOTINIDASE DEFICIENCY

Low match HERMANSKY-PUDLAK SYNDROME 1; HPS1


Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (Oh et al., 1998). Genetic Heterogeneity of Hermansky-Pudlak SyndromeHPS2 (OMIM ) is caused by mutation in the AP3B1 gene (OMIM ) on chromosome 5q14. HPS3 (OMIM ) is caused by mutation in the HSP3 gene (OMIM ) on chromosome 3q24. HPS4 (OMIM ) is caused by mutation in the HSP4 gene (OMIM ) on chromosome 22q12. HPS5 (OMIM ) is caused by mutation in the HPS5 gene (OMIM ) on chromosome 11p14. HPS6 (OMIM ) is caused by mutation in the HPS6 gene (OMIM ) on chromosome 10q24. HPS7 (OMIM ) is caused by mutation in the DTNBP1 gene (OMIM ) on chromosome 6p22. HPS8 (OMIM ) is caused by mutation in the BLOC1S3 gene (OMIM ) on chromosome 19q13. HPS9 (OMIM ) is caused by mutation in the PLDN gene (OMIM ) on chromosome 15q21. HPS10 (OMIM ) is caused by mutation in the AP3D1 gene (OMIM ) on chromosome 19p13.

HERMANSKY-PUDLAK SYNDROME 1; HPS1 Is also known as delta storage pool disease|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 1; HPS1

Low match DUBOWITZ SYNDROME


Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about DUBOWITZ SYNDROME

Low match GAUCHER DISEASE TYPE 1


Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Low match GAUCHER DISEASE TYPE 3


Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Top 5 symptoms//phenotypes associated to Myopia and Diarrhea

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Myopia and Diarrhea. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Anemia Thrombocytopenia Generalized hypotonia Ataxia Corneal opacity Malabsorption Vomiting Recurrent infections Kyphosis Osteopenia Aseptic necrosis Failure to thrive Abdominal pain Dementia Congestive heart failure Delayed skeletal maturation Dyspnea Nystagmus Neutropenia Constipation Proteinuria Osteolysis High palate Abnormal facial shape Fatigue Hepatomegaly Renal insufficiency Depressivity Abnormality of skin pigmentation Recurrent respiratory infections Splenomegaly Abnormal bleeding Hydrocephalus Hypertelorism Generalized myoclonic seizures Microcephaly Epistaxis

Rare Symptoms - Less than 30% cases


Optic atrophy Abnormal lung morphology Gait disturbance Lymphopenia Cholelithiasis Hypertension Increased susceptibility to fractures Immunodeficiency Oculomotor apraxia Increased bone mineral density Reduced bone mineral density Leukopenia Abnormality of the kidney Astigmatism Feeding difficulties in infancy Bruising susceptibility Bone pain Cardiomyopathy Pericardial effusion Glomerulosclerosis Abnormal myocardium morphology Developmental regression Abnormal cerebellum morphology Orthopnea Erlenmeyer flask deformity of the femurs Hypertonia Spasticity Generalized osteosclerosis Abnormality of the spleen Hearing impairment Avascular necrosis of the capital femoral epiphysis Decreased beta-glucocerebrosidase protein and activity Hematological neoplasm Cardiac valve calcification Horizontal supranuclear gaze palsy Multiple myeloma Portal hypertension Supranuclear gaze palsy Vertebral compression fractures Hepatocellular carcinoma Protuberant abdomen Iris hypopigmentation Exertional dyspnea Interstitial pulmonary abnormality Petechiae Increased antibody level in blood Menorrhagia Glomerulopathy Clubbing Abnormality of the thorax Cataract Muscular hypotonia Pulmonary arterial hypertension Spontaneous hematomas Osteoporosis Cirrhosis Lymphadenopathy Brachydactyly Epicanthus Delayed puberty Ptosis Hip dislocation Lymphoma Hepatosplenomegaly Anorexia Hematuria Myoclonus Depressed nasal bridge Intrauterine growth retardation Steatorrhea Abnormality of the dentition Arrhythmia Motor delay Cognitive impairment Chronic diarrhea High myopia Gingival bleeding Abnormality of eye movement Ascites Restrictive ventilatory defect Hyperventilation Thoracic kyphosis Decreased body weight Progressive neurologic deterioration Pancytopenia Melanocytic nevus Abdominal distention Pulmonary fibrosis Cyanosis Feeding difficulties Blepharophimosis Thin upper lip vermilion Craniosynostosis Fine hair Syncope Attention deficit hyperactivity disorder Telecanthus Delayed cranial suture closure Esodeviation Abnormality of the antihelix Hypoparathyroidism Acute lymphoblastic leukemia Anal stenosis Aplasia/Hypoplasia of the corpus callosum Underdeveloped supraorbital ridges Sparse lateral eyebrow Submucous cleft hard palate Aplasia/Hypoplasia of the thumb Periorbital edema Hypoplastic toenails Metatarsus adductus Cutis marmorata Sacral dimple Hepatic fibrosis Rectal prolapse Abnormality of the eye Osteoarthritis Hypersplenism Apraxia Abnormality of the cardiovascular system Meningitis Spastic paraparesis Parkinsonism Neurological speech impairment Arthritis Abnormality of neutrophils EEG abnormality Osteomyelitis Abnormality of coagulation Pathologic fracture Abnormality of thumb phalanx Bipolar affective disorder Increased serum ferritin Edema of the lower limbs Abnormality of female external genitalia Leukocytosis Platyspondyly Fractures of the long bones Abnormal T cell morphology Encephalopathy Dystonia Edema Dysphagia Tremor Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Encephalomalacia Rigidity Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Cellular immunodeficiency Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Difficulty walking Aggressive behavior Villous atrophy Bulbar palsy Abnormality of the acoustic reflex Abnormality of ion homeostasis Mitral valve calcification Abnormal saccadic eye movements Aortic valve calcification Abnormal thrombosis Astrocytosis Protein-losing enteropathy Restrictive deficit on pulmonary function testing Hypercoagulability Slow saccadic eye movements Abnormal heart valve morphology Abnormality of the sternum Mental deterioration Lower limb hyperreflexia Abnormal retinal morphology Opisthotonus Hypoalbuminemia Hydrops fetalis Intention tremor Progressive cerebellar ataxia Neurodegeneration Ophthalmoplegia Generalized tonic-clonic seizures Abnormal pyramidal sign Pallor Cerebral ischemia Lymphoproliferative disorder Abnormality of bone marrow cell morphology Scarring Waddling gait Premature birth Migraine Brain atrophy Gliosis Nephropathy Bulbous nose Stage 5 chronic kidney disease Spina bifida occulta Stroke Autoimmunity Hyperlordosis Microdontia Hypothyroidism Pneumonia Headache Cerebellar atrophy Short neck Fever Puberty and gonadal disorders Biliary tract obstruction Vascular calcification Abnormal platelet function Arthralgia of the hip Flank pain Decreased testicular size Nephrotic syndrome B-cell lymphoma Glomerulonephritis Disproportionate short-trunk short stature Ovoid vertebral bodies Transient ischemic attack Abnormality of the vasculature Multiple cafe-au-lait spots Hypermelanotic macule Combined immunodeficiency High pitched voice Emphysema Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Nephritis Epiphyseal dysplasia Lumbar hyperlordosis Encephalitis Chronic kidney disease Coarse hair Azoospermia Hyperlipidemia Atherosclerosis Opacification of the corneal stroma Bone marrow hypocellularity Abnormality of epiphysis morphology Heterotopia Abnormal form of the vertebral bodies Intellectual disability, profound Sandal gap Abnormality of the optic nerve Abnormality of the fingernails Behavioral abnormality Recurrent fractures Sensory neuropathy Tachycardia Nausea Unsteady gait Nausea and vomiting Gastroesophageal reflux Hyperhidrosis Hyporeflexia Areflexia Peripheral neuropathy Hypotension Pain Tall chin Microtia, first degree Toe walking Obsessive-compulsive behavior Pointed chin Hoarse voice Recurrent otitis media Hypertrichosis Otitis media Broad nasal tip Sensory impairment Peripheral demyelination Long face Acrocyanosis Alacrima Abnormality of the pleura Decreased number of large peripheral myelinated nerve fibers Abnormal renal physiology Abnormal pupil morphology Recurrent corneal erosions Hypoxemia Corneal erosion Heterochromia iridis Elevated serum creatinine Malignant hyperthermia Hypohidrosis Episodic fever Impaired pain sensation Orthostatic hypotension Agitation Anhidrosis Epiphora Emotional lability Hyponatremia Incoordination EMG abnormality Abnormal autonomic nervous system physiology Joint hypermobility Prominent nasal bridge Decerebrate rigidity Torticollis Genu varum Severe muscular hypotonia Rhizomelia Respiratory tract infection Low-set ears Increased head circumference Congenital muscular torticollis Facial hypotonia Pyloric stenosis Tented upper lip vermilion Congenital hip dislocation Metaphyseal widening Open mouth Narrow forehead Overgrowth Poor speech Deeply set eye Hypoglycemia Absent speech Ventriculomegaly Frontal bossing Downslanted palpebral fissures Macrocephaly Laryngomalacia Metaphyseal irregularity Microtia Delayed speech and language development Autistic behavior Anxiety Pes planus Autism Narrow mouth Hyperactivity Upslanted palpebral fissure Posteriorly rotated ears Midface retrusion Abnormality of the skeletal system Flexion contracture Mild short stature Hyperechogenic pancreas Laryngeal cleft Subglottic stenosis Normocytic anemia Prolonged prothrombin time Prolonged partial thromboplastin time Mild global developmental delay Severe failure to thrive Exocrine pancreatic insufficiency Metaphyseal dysplasia Neurodevelopmental delay Increased blood urea nitrogen Corneal ulceration Low anterior hairline Severe vision loss Freckles in sun-exposed areas Menometrorrhagia Partial albinism Squamous cell carcinoma of the skin Impaired platelet aggregation Abnormal thrombocyte morphology Ulcerative colitis Hematochezia Ocular albinism Abnormality of visual evoked potentials Hypopigmentation of hair Micrognathia Freckling Colitis Prolonged bleeding time Basal cell carcinoma Albinism Inflammation of the large intestine Melanoma Acanthosis nigricans Abnormality of dental enamel Abnormality of the hair Amblyopia Neoplasm Cryptorchidism Thickened skin Small hand Narrow face Wide anterior fontanel Broad thumb Sparse scalp hair Cutaneous photosensitivity Sloping forehead Eczema Asthma Delayed eruption of teeth Short foot Dry skin Respiratory insufficiency Joint hyperflexibility Toe syndactyly Wide mouth Protruding ear Postnatal growth retardation Low-set, posteriorly rotated ears Hydronephrosis Clinodactyly of the 5th finger Pectus excavatum Hypospadias Abnormality of cardiovascular system morphology Long eyelashes Epidermal acanthosis Decreased corneal reflex Abnormality of the nervous system Conjunctivitis Inflammatory abnormality of the skin Aciduria Coma Metabolic acidosis Lactic acidosis Hypotrichosis Lethargy Skin rash Apnea Acidosis Hyperammonemia Alopecia Visual loss Muscle weakness Sensorineural hearing impairment Decreased sensitivity to hypoxemia Recurrent infections due to aspiration Episodic hypertension Episodic hyperhidrosis Abnormality of the peritoneum Neuropathic arthropathy Decreased taste sensation Tachypnea Recurrent skin infections Gastrointestinal hemorrhage Laryngeal stridor Nevus Hypopigmentation of the skin Photophobia Weight loss Hyperkeratosis Blindness Visual impairment Decreased biotinidase activity Perioral eczema Metabolic ketoacidosis Desquamation of skin soon after birth Diffuse cerebellar atrophy Urticaria Recurrent fungal infections Keratoconjunctivitis Alcoholism Seborrheic dermatitis Organic aciduria Diffuse cerebral atrophy Bronchitis Basal ganglia calcification Infantile spasms Visual field defect Stridor Sleep myoclonus



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Stroke, related diseases and genetic alterations Delayed speech and language development and Triangular face, related diseases and genetic alterations Ptosis and Carious teeth, related diseases and genetic alterations Cleft palate and Single transverse palmar crease, related diseases and genetic alterations Cleft palate and EEG abnormality, related diseases and genetic alterations Global developmental delay and Scoliosis, related diseases and genetic alterations Intellectual disability and Polymicrogyria, related diseases and genetic alterations

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