Nystagmus, and Inflammation of the large intestine

Diseases related with Nystagmus and Inflammation of the large intestine

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


Top matches:

Low match HERMANSKY-PUDLAK SYNDROME 4; HPS4


Hermansky-Pudlak syndrome-4 (HPS4) is characterized by oculocutaneous albinism in association with easy bruising or a bleeding tendency and absence of platelet dense bodies. Some patients also exhibit pulmonary fibrosis and/or granulomatous colitis (Anderson et al., 2003).For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (OMIM ).

Related symptoms:

  • Nystagmus
  • Visual impairment
  • Respiratory distress
  • Reduced visual acuity
  • Bruising susceptibility


SOURCES: OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 4; HPS4

Low match HERMANSKY-PUDLAK SYNDROME TYPE 8


HERMANSKY-PUDLAK SYNDROME TYPE 8 Is also known as hps8

Related symptoms:

  • Nystagmus
  • Visual impairment
  • Myopia
  • Recurrent infections
  • Reduced visual acuity


SOURCES: ORPHANET OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME TYPE 8

Low match HERMANSKY-PUDLAK SYNDROME 5; HPS5


Hermansky-Pudlak syndrome-5 (HPS5) is characterized by oculocutaneous albinism, a bleeding diathesis, and lack of platelet dense bodies. HPS5 appears to be a milder form of the syndrome because the complications present in other forms of HPS, such as pulmonary fibrosis, granulomatous colitis, and neutropenia, have not been reported in HPS5 patients (Ringeisen et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (OMIM ).

Related symptoms:

  • Nystagmus
  • Neoplasm
  • Strabismus
  • Cataract
  • Thrombocytopenia


SOURCES: OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 5; HPS5

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Other less relevant matches:

Low match HERMANSKY-PUDLAK SYNDROME TYPE 7


HERMANSKY-PUDLAK SYNDROME TYPE 7 Is also known as hps7

Related symptoms:

  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Respiratory distress
  • Reduced visual acuity


SOURCES: ORPHANET OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME TYPE 7

Low match HERMANSKY-PUDLAK SYNDROME 6; HPS6


Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Anemia


SOURCES: OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 6; HPS6

Low match METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC (MAHCC ), cblD, cblF (MAHCF ), and cblJ (MAHCJ ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ), caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24. Another form of isolated MMA (OMIM ) can be caused by defect in the transcobalamin receptor (CD320 ).

METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1 Is also known as methylmalonic acidemia, cblh type, formerly|functional methionine synthase deficiency type cbldv1|methylmalonic aciduria, cblh type, formerly|methylmalonic acidemia and homocystinuria, cbld type

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1

Low match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY


Autosomal recessive cerebellar ataxia due to STUB1 deficiency is a rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY Is also known as scar16|spinocerebellar ataxia autosomal recessive type 16

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 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 D-BIFUNCTIONAL PROTEIN DEFICIENCY


D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

Low match PRADER-WILLI SYNDROME; PWS


Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Top 5 symptoms//phenotypes associated to Nystagmus and Inflammation of the large intestine

Symptoms // Phenotype % cases
Colitis Common - Between 50% and 80% cases
Albinism Common - Between 50% and 80% cases
Ocular albinism Common - Between 50% and 80% cases
Bruising susceptibility Common - Between 50% and 80% cases
Hypoplasia of the fovea Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Nystagmus and Inflammation of the large intestine. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Reduced visual acuity Global developmental delay Abnormal lung morphology Strabismus Hypopigmentation of the skin Seizures Visual impairment Epistaxis Pulmonary fibrosis Menorrhagia Horizontal nystagmus Abnormal bleeding Failure to thrive Generalized hypopigmentation Ataxia Photophobia Prolonged bleeding time Abnormal facial shape Cataract Impaired platelet aggregation Hearing impairment Astigmatism Neutropenia Generalized hypotonia Myopia Respiratory distress Cerebellar atrophy

Rare Symptoms - Less than 30% cases


Behavioral abnormality Hypogonadism Arachnodactyly Infertility Diabetes mellitus Cognitive impairment Hypoplasia of the corpus callosum Hepatomegaly Gait disturbance Enterocolitis Anorexia Fatigue Vomiting Abnormality of the nervous system Osteopenia Type II diabetes mellitus Depressed nasal bridge Upslanted palpebral fissure Dilatation Congestive heart failure Ventriculomegaly Neonatal hypotonia Talipes equinovarus Decreased muscle mass Epicanthus High palate Oligomenorrhea Micrognathia Feeding difficulties Dolichocephaly Iris hypopigmentation Hypopigmentation of hair Weight loss Ulcerative colitis Corpus callosum atrophy Gastrointestinal hemorrhage Polymicrogyria Muscular hypotonia Abnormal platelet granules Intellectual disability Anemia Intracranial hemorrhage Neoplasm Exotropia Esotropia Hypermetropia Pallor Recurrent infections Interstitial pulmonary abnormality Restrictive ventilatory defect Partial albinism Erysipelas Edema Intrauterine growth retardation Fever Disseminated intravascular coagulation Hypertension Delayed speech and language development Motor delay Cryptorchidism Pain Growth delay Abdominal distention Scoliosis Short stature Intellectual disability, severe Myopathy Triangular mouth Recurrent respiratory infections Ascites Micropenis Respiratory failure Hyperactivity Osteoporosis Prominent forehead Hyporeflexia Abnormality of the dentition Clinodactyly Obesity Syndactyly Short nose Kyphosis Intellectual disability, mild Generalized cerebral atrophy/hypoplasia Fetal ascites Calcific stippling Almond-shaped palpebral fissure Delayed cranial suture closure Hypopnea Progressive visual loss Peripheral demyelination Split hand Aplasia/Hypoplasia of the cerebellum Hammertoe Cortical dysplasia Decreased nerve conduction velocity Progressive hearing impairment Aspiration Large fontanelles Cholestasis Pachygyria Thoracic hypoplasia Narrow palm Heterotopia Cerebral dysmyelination Temperature instability Central adrenal insufficiency Renal cortical microcysts Chylous ascites Hypoplastic labia minora Poor gross motor coordination Bile duct proliferation Gliosis Undetectable electroretinogram Aspiration pneumonia Adrenal hypoplasia Scaphocephaly Psychotic episodes Primary adrenal insufficiency Cerebral hypoplasia Autism Narrow mouth Chromosome breakage Precocious puberty Failure to thrive in infancy Nasal speech Poor suck Infantile muscular hypotonia Scrotal hypoplasia Sleep apnea Radial deviation of finger Hypothermia Bicuspid aortic valve Narrow palpebral fissure Spontaneous abortion Hypogonadotrophic hypogonadism Increased body weight Cor pulmonale Hyperinsulinemia Acrocyanosis Bradycardia Central hypotonia Striae distensae Pulmonary embolism Hypoventilation Abnormality of lipid metabolism Impaired pain sensation Myeloid leukemia Narrow nasal bridge Polyphagia Emotional lability External genital hypoplasia Truncal obesity Overweight Adrenal insufficiency Skeletal muscle hypertrophy Glucose intolerance Large hands Aortic valve stenosis Insulin resistance Thin upper lip vermilion Pruritus Short foot Small hand Downturned corners of mouth Short palm Genu valgum Delayed puberty Carious teeth Leukemia Clitoral hypoplasia Stroke Attention deficit hyperactivity disorder Respiratory tract infection Abnormality of the pinna Apnea Hypoglycemia Frontal upsweep of hair Tapered finger Sleep disturbance Clumsiness Narrow forehead Primary amenorrhea Abdominal obesity Poor fine motor coordination Renal cyst Psychosis Decreased fetal movement Oligohydramnios Abnormality of the cardiovascular system Sepsis Amenorrhea Anteverted ears Specific learning disability Hip dysplasia Febrile seizures Growth hormone deficiency Full cheeks Cutaneous photosensitivity Abnormality of visual evoked potentials Hepatic steatosis Spasticity Hypertonia Dysphagia Tremor Dysarthria Hyperreflexia Peripheral neuropathy Hypomethioninemia Alopecia Decreased methylmalonyl-CoA mutase activity Decreased adenosylcobalamin Decreased methionine synthase activity Megaloblastic bone marrow Decreased methylcobalamin Hyperhomocystinemia Babinski sign Cerebellar hypoplasia Homocystinuria Peripheral axonal neuropathy Lower limb spasticity Memory impairment Progressive cerebellar ataxia Postural instability Sensory neuropathy Distal amyotrophy Unsteady gait Myoclonus Ophthalmoplegia Neurological speech impairment Rigidity Difficulty walking Hypothyroidism Gait ataxia Glaucoma Methylmalonic acidemia Spastic ataxia Truncal ataxia Bladder neoplasm Hernia Headache Hyperopic astigmatism Hypopigmentation of the fundus Optic nerve hypoplasia Muscle weakness Foam cells Migraine White hair Abnormality of the gastrointestinal tract Thrombocytopenia Moderate hypermetropia Optic disc pallor Clubbing Bronchiectasis Anal atresia Recurrent urinary tract infections Methylmalonic aciduria Cerebral cortical atrophy Increased mean corpuscular volume Megaloblastic anemia Dehydration Aciduria Lethargy Acidosis Dystonia Recurrent upper respiratory tract infections Impaired ADP-induced platelet aggregation Absent foveal reflex Endometriosis Macular hypoplasia Rotary nystagmus Congenital nystagmus Iron deficiency anemia Limb ataxia Type I diabetes mellitus Talipes Hematochezia Hypertelorism Freckles in sun-exposed areas Menometrorrhagia Squamous cell carcinoma of the skin Abnormal thrombocyte morphology Abnormality of the optic nerve Gingival bleeding Skeletal muscle atrophy Severe vision loss Freckling Basal cell carcinoma Melanocytic nevus Melanoma Acanthosis nigricans Abnormality of dental enamel Low-set ears Macrocephaly Amblyopia High forehead Abnormality of the cerebral white matter Severe global developmental delay Abnormality of the liver Feeding difficulties in infancy Elevated hepatic transaminase Retrognathia Polyhydramnios Optic atrophy Pneumonia Delayed skeletal maturation Visual loss Pectus excavatum Hypospadias Long philtrum Frontal bossing Abnormality of the hair Long eyelashes Oculomotor apraxia Uveitis Impaired proprioception Head tremor Hypoplasia of the pons Progeroid facial appearance Hand tremor Retinal atrophy Hyperactive deep tendon reflexes Saccadic smooth pursuit Ankle clonus Gaze-evoked nystagmus Sensory axonal neuropathy Postural tremor Adducted thumb External ophthalmoplegia Pancreatitis Speech apraxia Delayed menarche Thickened skin Immunodeficiency Epidermal acanthosis Nevus Malabsorption Dyspnea Hyperkeratosis Abdominal pain Renal insufficiency Iridocyclitis Blindness Cardiomyopathy Abnormal motor evoked potentials Abnormality of the sella turcica Parietal cortical atrophy Old-aged sensorineural hearing impairment Abnormal involuntary eye movements Acromicria



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