Variable Severity: Causes & Reasons

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Possible Causes for Variable Severity

Oculootoradial Syndrome

Upper limbs may be severely malformed. Extraocular motor disturbances and hearing loss of variable severity have also been reported. [malacards.org]

Disease Ontology Term: IVIC syndrome DO ID DOID:0111381 Description An autosomal dominant disease characterized by radial ray defect of variable severity, mixed congenital [yeastgenome.org]

[…] tissues include eye, ovary and testis, and related phenotypes are hearing impairment and joint stiffness Disease Ontology : 12 A syndrome characterized by radial ray defect of variable [malacards.org]

Hand-Foot-Genital Syndrome

severity. [experts.umich.edu]

Affected males may have penile hypospadias of variable severity with or without chordee, short penis, or bifid scrotum. [link.springer.com]

[…] include a displaced urethral opening and malposition of ureteral orifices in the bladder wall; affected males may have hypospadias (ventrally misplaced urethral opening) of variable [experts.umich.edu]

Partial Monosomy 7p

The degree and severity of craniosynostosis may be variable, depending on the specific cranial sutures involved. [rarediseases.org]

Reported cases have included variable “distal” deletions extending to the terminal band (e.g., from 7p13-pter to 7p21p22-pter) and various “interstitial” deletions (e.g., [rarediseases.org]

According to reports in the medical literature, there is significant variation in the size and location of the deleted segment of 7p, potentially affecting the range and severity [rarediseases.org]

POLG-Related Disorder

PEO, characterized by ptosis, paralysis of the extraocular muscles (ophthalmoplegia), and variably severe proximal limb weakness, is relatively benign [53]. g) BCS1L-related [heighpubs.org]

Prognosis and complications The disease progression is variable in both timing and rapidity. [medlink.com]

The onset of cognitive impairment is variable, but seems to be parallel to seizures and seizure severity. [dovepress.com]

Autosomal Recessive Channelopathy-Associated Insensitivity to Pain

Andersen ED, Krasilnikoff PA, Overvad H (1971) Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome? Acta Pediatr Scand 60: 559–64 CrossRef CAS Google Scholar Brook JD, McCuffach ME, Harley HG, et al. (1992) Molecular basis of myotonlc dystrophy expansion of a[…] [link.springer.com]

Urinary Bladder Inverted Papilloma

severity of prostaticsymptoms (IPSS), quality of life (SF-36) and surgeryrelated data were also analyzed.RESULTS: Before surgery, 59% of the patients had sexual activity [aeurologia.com]

[…] factors influencing sexual activity afterprostatectomy.METHODS: The sexual activity of 189 patients wereevaluated before and 6 months after surgery for BPH.Sociodemographic variables [aeurologia.com]

AP4 Deficiency Syndrome

The 3 patients from our study share the same clinical phenotype with variable severity, consisting in early-onset developmental delay, tetraparesis, juvenile motor function [ncbi.nlm.nih.gov]

1q41-q42 Microdeletion Syndrome

There have been variable features described in the literature, and individuals have ranged from being mildly to severely affected.[2906][2907] Features may include poor feeding [rarediseases.org]

There have been variable features described in the literature, and individuals have ranged from being mildly to severely affected. [rarediseases.info.nih.gov]

[…] deletion in a particular place on the long arm of one copy of chromosome 1, usually spanning several genes. [rarediseases.org]

Congenital Disorder of Glycosylation Type X

Only occasional seizures occurred in adult patients. 22/24 patients had delayed development and intellectual disability (ID) of variable severity. 10/15 patients with informative [ojrd.biomedcentral.com]

Variable symptoms in the patients included hypotonia, dysmorphy, microcephaly, liver dysfunction, severe infections, and coagulation defects. [themedicalbiochemistrypage.org]

DOLK-CDG Mutations in the DOLK gene presented with variable symptoms, ranging from nonsyndromic dilated cardiomyopathy to severe multiorgan involvement. [mdpi.com]

Pontocerebellar Hypoplasia Type 2A

Vermis hypoplasia is very variable, severe in patient 13, very slight in patient 10-11-12 and also predominates at the inferior part. B. [en.wikipedia.org]

[…] psychomotor retardation, abnormal movements, hypotonia, spasticity, and variable visual defects[11] PCH9 615809 AMPD2 1p13.3 Severely delayed psychomotor development, progressive [en.wikipedia.org]

[…] cerebello-cerebral atrophy (PCCA) PCH2E 615851 VPS53 17p13.3 Profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy[7] PCH2F 617026 TSEN15 1q25.3 Variable [en.wikipedia.org]

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

Height is the resultant of several variables, the main of which are genetic factors inherited from both parents. [ncbi.nlm.nih.gov]

In the severe forms, common, but variable symptoms include neurological dysfunction including convulsions or seizures, swallowing difficulties, poor muscle tone of the trunk [rarediseases.org]

It can have variable clinical severity and there is limited information on the clinical presentation, natural history and effectiveness of newborn screening for this condition [ncbi.nlm.nih.gov]

CLCN-Related Osteopetrosis

SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity. J Bone Miner Res. 2013;28:1041–9. [ncbi.nlm.nih.gov]

Intellectual disability of variable severity is observed in almost all individuals with TANGO2-related metabolic encephalopathy and arrhythmias. [ncbi.nlm.nih.gov]

Intellectual disability of variable severity is observed in almost all individuals. Seizures are observed outside the periods of crises in more than 75% of individuals. [ncbi.nlm.nih.gov]

Congenital Disorder of Glycosylation Type 1F

DOLK-CDG Mutations in the DOLK gene presented with variable symptoms, ranging from nonsyndromic dilated cardiomyopathy to severe multiorgan involvement. [mdpi.com]

Therefore it is obvious that hypoglycosylation of proteins leads to variable and in general severe and ubiquitous problems in affected individuals. [nature.com]

Hereditary Spherocytosis Type 1

The clinical expression of HS is highly variable, ranging from asymptomatic condition to a severe life-threatening hemolytic anemia. [pesquisa.bvsalud.org]

Congenital Disorder of Glycosylation Type 1N

CONCLUSION Patients with the R141H/F119L genotype have an early uniform presentation including severe failure to thrive, but their functional outcome is variable. [adc.bmj.com]

Statistical analysis Categorical variables were compared using Fisher’s exact test with a significance level of p < 0.05. [ojrd.biomedcentral.com]

R141H/F119L probably represent the severe end of the clinical spectrum of CDG-Ia. [adc.bmj.com]

Pontocerebellar Hypoplasia Type 2D

Vermis hypoplasia is very variable, severe in patient 13, very slight in patient 10-11-12 and also predominates at the inferior part. B. [en.wikipedia.org]

Chromosome 20q Duplication

[…] is variable. [ipcares.org]

Children with large duplication including parts of 20q in addition to the whole of 20p may have more severe cognitive impairment. [ipcares.org]

[…] presence of intellectual disability, trisomy 20p should be considered as a differential diagnosis.[11] Developmental delay and learning difficulties are common, but the severity [ipcares.org]

Xp22.3 Microdeletion Syndrome

Several mechanisms are suggested by which this chromosome abnormality might produce this phenotype in these patients. [mayoclinic.pure.elsevier.com]

One patient had an interstitial or terminal deletion, but in others the material translocated to Xp22.3 was variable (Yq material in two patients, and Yp material and an unidentifiable [mayoclinic.pure.elsevier.com]

Froster-Huch Syndrome

[…] lung hypoplasia, and variable associated malformations. [rareguru.com]

Purohit MD, MPH Froster-Huch Syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated [dovemed.com]

Disease definition Diaphragmatic defect-limb deficiency-skull defect syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe [orpha.net]

Genu valgum St Helena Familial

Helena familial genu valgumGenu valgum, hereditary pubertal; Hereditary pubertal genu valgum; Severe 'knock-knees' and variable lesser malalignment at the elbows and wrists [rarediseases.info.nih.gov]

Helena familial genu valgum; Genu valgum, hereditary pubertal; Severe 'knock-knees' and variable lesser malalignment at the elbows and wrists; St. [rarediseases.info.nih.gov]

Helena Familial 57 Genu Valgum, Hereditary Pubertal 57 20 Genu Valgum, St Helena Familial 20 70 Severe 'knock-Knees' and Variable Lesser Malalignment at the Elbows and Wrists [malacards.org]

IFAP Syndrome with or without BRESHEK Syndrome

The IFAP/BRESHECK syndrome is an X-linked multiple congenital anomaly disorder with variable severity. [ncbi.nlm.nih.gov]

Other genodermatoses with severe keratitis are KID syndrome ( 148210 ) and Hereditary Mucoepithelial Dysplasia ( 158310 ). [disorders.eyes.arizona.edu]

[…] vary with different mutations, it is possible that all cases of IFAP with or without the added BRESHECK findings are part of the clinical spectrum of a single disorder (variable [disorders.eyes.arizona.edu]

Blepharo-Naso-Facial Syndrome Type Van Maldergem

[…] upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. [mseqdr.org]

Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter [mseqdr.org]

Inverted Ureter Papilloma

severity of prostaticsymptoms (IPSS), quality of life (SF-36) and surgeryrelated data were also analyzed.RESULTS: Before surgery, 59% of the patients had sexual activity [aeurologia.com]

Chromosome 17q12 Microduplication Syndrome

severity. [scientiait.com]

[…] phenotype, ranging from few or no symptoms to severe disability. [scientiait.com]

Contents 1 Presentation 2 Causes 3 Diagnosis 4 Treatment 5 Epidemiology 6 Microduplication 7 See also 8 References 9 External links Presentation 17q12 microdeletions have a variable [scientiait.com]

Bilateral Polymicrogyria

severity, seizures Cause [ edit ] The cause of polymicrogyria is unclear. [en.wikipedia.org]

[…] parasagittal parieto-occipital polymicrogyria (BPPP) – Partial seizures, some with mental retardation Bilateral generalized polymicrogyria (BGP) – Cognitive and motor delay of variable [en.wikipedia.org]

Chromosome 12p Deletion Syndrome

the clinician may determine whether the patient will end up with a more severe or milder end-phenotype that variably determine disease prognosis [49]. [mdpi.com]

However, more distal deletions (18q23) may also result in the classical phenotype, but there exists a wide phenotypic variability.124 Slavotinek et al125 reported a severely [jmg.bmj.com]

Our patients showed variable clinical phenotype and disease severity, which might be partly related to a post-conceptual somatic mutation, an epigenetic change, an environmental [mdpi.com]

Cocaine Intoxication

[…] based on several studies and case reports.[31] Vasodilators[edit] Nitric-oxide mediated vasodilators, such as nitroglycerin and nitroprusside, are effective at lowering blood [en.wikipedia.org]

[…] haloperidol and olanzapine may also be useful.[31] The alpha-2 agonist dexmedetomidine may also be useful for agitation, but effects on heart rate and blood pressure are variable [en.wikipedia.org]

GOMBO Syndrome

severity. [orpha.net]

Mental retardation of variable severity was present in all patients. Three of the older patients had hypertension. [jmg.bmj.com]

[…] definition Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable [orpha.net]

HaNDL Syndrome

Summary Abstract We report the case of a 54-year-old woman with multiple presentations to the emergency department with severe headache, transient variable neurological deficits [journal.nzma.org.nz]

Its duration is variable, although it is usual to self-limit in few hours [11]. [oatext.com]

Despite dramatic symptomology, it has an excellent prognosis and normally spontaneously resolves over several months. Its cause remains unknown. ‍ [journal.nzma.org.nz]