Nystagmus, and Abdominal pain

Diseases related with Nystagmus and Abdominal pain

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


Top matches:

Low match SPINOCEREBELLAR ATAXIA TYPE 25


Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy.

SPINOCEREBELLAR ATAXIA TYPE 25 Is also known as sca25

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus
  • Visual impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 25

Low match PORPHYRIA VARIEGATA


Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.

PORPHYRIA VARIEGATA Is also known as variegate porphyria|ppox deficiency|porphyria, south african type|protoporphyrinogen oxidase deficiency|vp

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA VARIEGATA

Low match FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT


Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.

FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT Is also known as fhhnc without severe ocular involvement|homg3|hypomagnesemia, isolated renal|hypomagnesemia, primary, due to defect in renal tubular transport of magnesium|renal hypomagnesemia type 3|hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Failure to thrive
  • Strabismus


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT

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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 CHOREOACANTHOCYTOSIS


Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.

CHOREOACANTHOCYTOSIS Is also known as neuroacanthocytosis|chorea-acanthocytosis|chac|levine-critchley syndrome|acanthocytosis with neurologic disorder

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHOREOACANTHOCYTOSIS

Low match NEUROBLASTOMA


Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.

Related symptoms:

  • Ataxia
  • Neoplasm
  • Failure to thrive
  • Pain
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROBLASTOMA

Low match PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE


Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome|waardenburg-shah syndrome, neurologic variant|pcwh|ws4 plus

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

Low match GIANT CELL ARTERITIS


Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.

GIANT CELL ARTERITIS Is also known as horton disease|giant cell arteritis|temporal arteritis|cranial arteritis|polymyalgia rheumatica|gca

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about GIANT CELL ARTERITIS

Low match MEVALONIC ACIDURIA


Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

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 Nystagmus and Abdominal pain

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Malabsorption Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Nystagmus and Abdominal pain. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Arrhythmia Short stature Weight loss Muscle weakness Hepatomegaly Fatigue Fever Diarrhea Depressivity Myopia Vomiting Hepatosplenomegaly Splenomegaly Strabismus Failure to thrive Hearing impairment Pain Muscular hypotonia Growth delay Anemia Hypopigmentation of the skin Hematuria Abnormal bleeding Visual impairment Myoclonus Areflexia Lymphadenopathy Pes cavus Abnormality of the nervous system Cataract Renal insufficiency Progressive cerebellar ataxia Epistaxis Edema Global developmental delay

Rare Symptoms - Less than 30% cases


Anorexia Sensorineural hearing impairment Hepatocellular carcinoma Mental deterioration Petechiae Aggressive behavior Scoliosis Acidosis Arthritis Nevus Astigmatism Paresthesia Pallor Optic atrophy Dyspnea Generalized tonic-clonic seizures Arthralgia Blindness Abnormality of eye movement Vasculitis Progressive neurologic deterioration Neurodegeneration Elevated hepatic transaminase Psychosis Chronic kidney disease Gait disturbance Portal hypertension Hypopigmented skin patches Myopathy Thrombocytopenia Generalized hypotonia Dysphagia Tics Tremor Hypopigmentation of hair Abnormal thrombocyte morphology Sensory neuropathy Distal sensory impairment Underdeveloped nasal alae Abnormal pyramidal sign Cerebellar atrophy Dysarthria Neoplasm Delayed skeletal maturation Dystonia Elevated serum creatine phosphokinase Bone pain Abnormality of the thorax Cerebral cortical atrophy Dementia Constipation Recurrent respiratory infections Tetraplegia Ascites Pulmonary fibrosis Nausea and vomiting Anxiety Hyporeflexia Restrictive ventilatory defect Cerebral atrophy Elevated erythrocyte sedimentation rate Diabetes insipidus Visual field defect Mediastinal lymphadenopathy Ophthalmoparesis Cerebral ischemia Impaired mastication Abnormality of the pleura Aortic dissection Abdominal aortic aneurysm Pericarditis Gangrene Arterial thrombosis Amaurosis fugax Recurrent pharyngitis Hypoplasia of the semicircular canal Meningitis Premature graying of hair White eyelashes Alacrima Intestinal pseudo-obstruction Ileus White forelock Demyelinating peripheral neuropathy White hair Heterochromia iridis Blue irides Abnormal eyebrow morphology Congenital nystagmus Intestinal obstruction Microcolon Decreased nerve conduction velocity CNS hypomyelination Anosmia Torticollis Spastic paraparesis Abnormal autonomic nervous system physiology Leukodystrophy Hypohidrosis Aganglionic megacolon Spastic tetraplegia Peripheral demyelination White eyebrow Cerebral dysmyelination Skin ulcer Alopecia Diplopia Optic disc pallor Sudden cardiac death Hepatic failure Vertigo Cough Stroke Joint stiffness Myalgia Conductive hearing impairment Hyperhidrosis Visual loss Decreased lacrimation Headache Ptosis Spasmus nutans Long-segment aganglionic megacolon Dysmyelinating leukodystrophy Absent brainstem auditory responses Myelin outfoldings Neonatal asphyxia Hypoplasia of the cochlea Meconium ileus Peripheral hypomyelination Spotty hyperpigmentation Gastrointestinal infarctions Clumsiness Glossitis Hypoalbuminemia Bulbar palsy Abnormality of the sternum Lower limb hyperreflexia Abnormal retinal morphology Pericardial effusion Interstitial pulmonary abnormality Opisthotonus Increased antibody level in blood Menorrhagia Clubbing Cholelithiasis Increased susceptibility to fractures Abnormal heart valve morphology Leukopenia Oculomotor apraxia Osteolysis Increased bone mineral density Lymphopenia Hydrops fetalis Decreased body weight Intention tremor Pulmonary arterial hypertension Pancytopenia Cyanosis Exertional dyspnea Aseptic necrosis Generalized myoclonic seizures Spontaneous hematomas Abnormality of the acoustic reflex Abnormality of ion homeostasis Cardiac valve calcification Horizontal supranuclear gaze palsy Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Erlenmeyer flask deformity of the femurs Orthopnea Mitral valve calcification Abnormal saccadic eye movements Aortic valve calcification Abnormal thrombosis Thoracic kyphosis Generalized osteosclerosis Astrocytosis Protein-losing enteropathy Restrictive deficit on pulmonary function testing Avascular necrosis of the capital femoral epiphysis Abnormality of the spleen Abnormal myocardium morphology Multiple myeloma Supranuclear gaze palsy Hypercoagulability Vertebral compression fractures Slow saccadic eye movements Syncope Abdominal distention Arteritis Abnormality of the liver Large fontanelles Distal amyotrophy Blue sclerae Aciduria Triangular face Metabolic acidosis Retinal dystrophy Lactic acidosis Dolichocephaly Leukemia Skin rash Low-set, posteriorly rotated ears Severe failure to thrive Hypoglycemia Kyphoscoliosis Posteriorly rotated ears Obesity Downslanted palpebral fissures Low-set ears Abnormal facial shape Microcephaly Jaw claudication Retinal arteritis Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Leukocytosis Nuclear cataract Cirrhosis Hypertonia Delayed puberty Ophthalmoplegia Corneal opacity Proteinuria Rigidity Difficulty walking Osteopenia Osteoporosis Encephalopathy Kyphosis Congestive heart failure Hydrocephalus Organic aciduria Normocytic hypoplastic anemia Fluctuating splenomegaly Fluctuating hepatomegaly Morbilliform rash Chronic leukemia Therapeutic abortion Glutathione synthetase deficiency Hypoplastic anemia Normocytic anemia Extramedullary hematopoiesis Agenesis of cerebellar vermis Cholestatic liver disease Coma Abetalipoproteinemia Arthrogryposis multiplex congenita Amelogenesis imperfecta Enuresis nocturna Persistence of primary teeth Tetany Chondrocalcinosis Enuresis Oligospermia Hypomagnesemia Hypoparathyroidism Ankylosis Abnormality of lipid metabolism Hyposthenuria Acute kidney injury Renal tubular acidosis Hyperuricemia Male infertility Polyuria Polydipsia Hypercalciuria Nephrocalcinosis Hypocalcemia Chorioretinitis Renal potassium wasting Nephrolithiasis Neutropenia Acanthosis nigricans Abnormality of dental enamel Abnormality of the hair Amblyopia Long eyelashes Thickened skin Abnormal lung morphology Epidermal acanthosis Gastrointestinal hemorrhage Bruising susceptibility Renal magnesium wasting Photophobia Hyperkeratosis Recurrent infections Immunodeficiency Cardiomyopathy Impaired urinary acidification Hypocitraturia Renal calcium wasting Medullary nephrocalcinosis Hypermagnesiuria Gingival overgrowth Recurrent urinary tract infections Melanocytic nevus Decreased number of large peripheral myelinated nerve fibers Carcinoma Clinodactyly Abnormality of the skeletal system Abnormal morphology of the cerebellar cortex Facial tics Abolished vibration sense Impaired distal tactile sensation Facial myokymia Diffuse cerebellar atrophy Spastic dysarthria Paralysis Areflexia of lower limbs EMG: neuropathic changes Episodic abdominal pain Impaired pain sensation Decreased number of peripheral myelinated nerve fibers Urinary urgency Reduced visual acuity Gait ataxia Babinski sign Abnormality of the kidney Scarring Infertility Restlessness Hypermetropia Feeding difficulties in infancy Porphyrinuria Premature adrenarche Dark urine Motor polyneuropathy Neoplasm of the liver Visual hallucinations Insomnia Fragile skin Confusion Milia Agitation Aspiration Hallucinations Thin skin Hypertrichosis Cutaneous photosensitivity Abnormal blistering of the skin Tachycardia Nausea Melanoma Inflammation of the large intestine Prominent nasal bridge Caudate atrophy Cafe-au-lait spot Self-mutilation of tongue and lips due to involuntary movements Square-wave jerks Subcortical dementia Progressive choreoathetosis Progressive distal muscular atrophy Hair-pulling Abnormality of urine homeostasis Phonic tics Distal upper limb muscle weakness Neuroblastoma Abnormal erythrocyte morphology Difficulty in tongue movements Mood changes Abnormal urinary color Muscle fiber atrophy Dysgraphia Disinhibition Orofacial dyskinesia Acanthocytosis Neurofibromas Spinal cord compression Self-mutilation Elevated urinary vanillylmandelic acid Distal muscle weakness Telecanthus Neonatal hypotonia Hypogonadism Intellectual disability, severe Wide nasal bridge Motor delay Spasticity Cryptorchidism Elevated urinary homovanillic acid Skin nodule Elevated urinary catecholamines Elevated urinary dopamine Abdominal mass Opsoclonus Adrenal calcification Ganglioneuroblastoma Horner syndrome Neoplasm of the nervous system Ganglioneuroma Paraganglioma Acute hepatic failure Protruding tongue Albinism Abnormality of the optic nerve Skeletal muscle atrophy Feeding difficulties Cognitive impairment Freckles in sun-exposed areas Menometrorrhagia Partial albinism Squamous cell carcinoma of the skin Impaired platelet aggregation Ulcerative colitis Hematochezia Behavioral abnormality Ocular albinism Abnormality of visual evoked potentials Gingival bleeding Severe vision loss Iris hypopigmentation Freckling Colitis Prolonged bleeding time Basal cell carcinoma Ventriculomegaly Hypertrophic cardiomyopathy Abnormality of the thyroid gland Chorea Generalized amyotrophy Personality changes Self-injurious behavior Abnormality of vision Drooling EMG abnormality Involuntary movements Neuronal loss in central nervous system Memory impairment Gliosis Abnormality of the eye Parkinsonism Generalized muscle weakness Sleep disturbance Dyskinesia Abnormality of movement Abnormality of the foot Limb muscle weakness Neurological speech impairment Attention deficit hyperactivity disorder Developmental regression Sleep myoclonus



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