Visual impairment, and Nausea and vomiting

Diseases related with Visual impairment and Nausea and vomiting

In the following list you will find some of the most common rare diseases related to Visual impairment and Nausea and vomiting that can help you solving undiagnosed cases.


Top matches:

Low match CONGENITAL HIGH-MOLECULAR-WEIGHT KININOGEN DEFICIENCY


High molecular weight kininogen (HMWK) deficiency is an autosomal recessive coagulation defect. It is known by a variety of names, including Fitzgerald trait, Flaujeac trait, and Williams trait. Patients with HWMK deficiency do not have a hemorrhagic tendency, but they exhibit abnormal surface-mediated activation of fibrinolysis. Fitzgerald trait represents a 'true' deficiency of HMWK, whereas Flaujeac and Williams traits represent total kininogen deficiency, in which both HMWK and low molecular weight kininogen (LMWK) are deficient. HMWK and LMWK are both encoded by the KNG1 gene (OMIM ) (Bick, 2002; Takagaki et al., 1985).

CONGENITAL HIGH-MOLECULAR-WEIGHT KININOGEN DEFICIENCY Is also known as kininogen deficiency, high molecular weight|hmwk deficiency|fitzgerald trait

Related symptoms:

  • Visual impairment
  • Vomiting
  • Headache
  • Loss of consciousness
  • Prolonged partial thromboplastin time


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL HIGH-MOLECULAR-WEIGHT KININOGEN DEFICIENCY

Low match EPISODIC ATAXIA TYPE 6


Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.

Related symptoms:

  • Seizures
  • Ataxia
  • Cerebellar atrophy
  • Headache
  • Reduced visual acuity


SOURCES: ORPHANET MENDELIAN

More info about EPISODIC ATAXIA TYPE 6

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Other less relevant matches:

Low match ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2; IIAE2


Herpes simplex encephalitis (HSE) is a severe viral infection of the central nervous system (CNS) resulting most commonly from infection with HSV-1 and occasionally by HSV-2. The disease peaks in childhood between 3 months and 3 years of age, although later onset can also occur, and affected individuals usually have neurologic sequelae, including seizures and cognitive or motor impairment. Some individuals may have recurrences of an acute episode of HSE; however, patients have no clear susceptibility to infection to other viruses. The virus gains entry to the CNS through a neuronal route via the trigeminal or olfactory nerves, not via the blood. Replication of this enveloped double-stranded DNA (dsDNA) virus involves the production and accumulation of RNA species, including dsRNA, which are recognized by the intracellular TLR3 signaling pathway. The susceptibility to HSV in particular appears to result from impaired TLR3-dependent interferon production by nonhematopoietic cells that reside within the CNS (review by Zhang et al., 2013; summary by Mork et al., 2015).For a general phenotypic description of herpes simplex encephalitis and a discussion of genetic heterogeneity of acute infection-induced encephalopathy, see {610551}.

ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2; IIAE2 Is also known as herpes simplex encephalitis, susceptibility to, 2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Cognitive impairment
  • Fever
  • Vomiting


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2; IIAE2

Low match HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY


N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia.

HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY Is also known as hyperammonemia due to n-acetylglutamate synthetase deficiency|n-acetylglutamate synthetase deficiency|nags deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Feeding difficulties


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY

Low match COENZYME Q10 DEFICIENCY, PRIMARY, 3; COQ10D3


Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Feeding difficulties
  • Edema
  • Blindness


SOURCES: OMIM MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 3; COQ10D3

Low match FAMILIAL OR SPORADIC HEMIPLEGIC MIGRAINE


Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL OR SPORADIC HEMIPLEGIC MIGRAINE

Low match MALT LYMPHOMA


MALT (mucosa-associated lymphoid tissue) lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) that affects B cells and grows at the expense of lymphoid tissue associated with mucous membranes, but also occurs, more rarely, in lymph nodes.

MALT LYMPHOMA Is also known as maltoma|mucosa-associated lymphatic tissue lymphoma|extranodal marginal zone b-cell lymphoma|mucosa-associated lymphoid tissue lymphoma

Related symptoms:

  • Anemia
  • Visual impairment
  • Fever
  • Fatigue
  • Constipation


SOURCES: ORPHANET MENDELIAN

More info about MALT LYMPHOMA

Low match CHYLOMICRON RETENTION DISEASE


Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.

CHYLOMICRON RETENTION DISEASE Is also known as crd|anderson disease|cmrd

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Visual impairment
  • Myopathy
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about CHYLOMICRON RETENTION DISEASE

Low match NEUROMYELITIS OPTICA


Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.

NEUROMYELITIS OPTICA Is also known as devic disease

Related symptoms:

  • Pain
  • Respiratory insufficiency
  • Vomiting
  • Visual loss
  • Respiratory failure


SOURCES: MESH ORPHANET MENDELIAN

More info about NEUROMYELITIS OPTICA

Top 5 symptoms//phenotypes associated to Visual impairment and Nausea and vomiting

Symptoms // Phenotype % cases
Vomiting Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Headache Uncommon - Between 30% and 50% cases
Nausea Uncommon - Between 30% and 50% cases
Migraine Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Visual impairment and Nausea and vomiting. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Fatigue Feeding difficulties Phonophobia Cognitive impairment Fever Lethargy Encephalopathy EEG abnormality Confusion Blindness Hemiparesis Hemiplegia Failure to thrive Migraine with aura Photophobia Ataxia Mediastinal lymphadenopathy Steatorrhea EMG: myopathic abnormalities Hypertriglyceridemia Abdominal distention Hepatic steatosis Retinopathy Elevated hepatic transaminase Areflexia Diarrhea Hyperhidrosis Recurrent respiratory infections B-cell lymphoma Abdominal pain Myopathy Weight loss Lymphadenopathy Growth delay Abnormality of the thyroid gland Posterior uveitis Pulmonary infiltrates Abnormal nasolacrimal system morphology Visual loss Acanthocytosis Peripheral demyelination Recurrent singultus Functional abnormality of the bladder CSF pleocytosis Optic neuritis Abnormality of brain morphology Neuritis Ocular pain Autoimmune antibody positivity Hyperkinesis Neuronal loss in central nervous system Sensory impairment Impaired proprioception Paraplegia Autoimmunity Paralysis Respiratory failure Anemia Respiratory insufficiency Pain Abnormality of vitamin metabolism Increased hepatocellular lipid droplets Hypocholesterolemia Fat malabsorption Constipation Nephrotic syndrome Dysphasia Intellectual disability CNS infection Herpes simplex encephalitis Encephalomalacia Hemianopia Encephalitis Meningitis Gliosis Mental deterioration Recurrent infections Gaze-evoked nystagmus Severe viral infection Slurred speech Diplopia Vertigo Reduced visual acuity Cerebellar atrophy Reduced kininogen activity Venous occlusion Prolonged partial thromboplastin time Loss of consciousness Scotoma Homonymous hemianopia Global developmental delay Hemiplegia/hemiparesis Proteinuria Abnormality of retinal pigmentation Pigmentary retinopathy Abnormality of movement Neurological speech impairment Sensorineural hearing impairment Nystagmus Episodic vomiting Cerebral visual impairment Status epilepticus Increased serum lactate Neonatal hypotonia Respiratory distress Pneumonia Edema Generalized hypotonia Increased level of L-glutamic acid in blood Acute encephalopathy Hyperammonemia Tachypnea Coma Aggressive behavior Hypoglycemia Myelitis



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