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1.

UV-sensitive syndrome

UV-sensitive syndrome-1 is an autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by Horibata et al., 2004). Genetic Heterogeneity of UV-Sensitive Syndrome See also UVSS2 (614621), caused by mutation in the ERCC8 gene (609412) on chromosome 5, and UVSS3 (614640), caused by mutation in the UVSSA gene (614632) on chromosome 4p16. [from OMIM]

MedGen UID:
322222
Concept ID:
C1833561
Disease or Syndrome
2.

Xeroderma

A non-neoplastic disorder characterized by abnormally dry skin. Causes include vitamin A deficiency, sunlight exposure, medications, metabolic disorders, autoimmune disorders, and hereditary genetic disorders. [from NCI]

MedGen UID:
53106
Concept ID:
C0043345
Disease or Syndrome
3.

Cockayne syndrome

Cockayne syndrome (referred to as CS in this GeneReview) spans a phenotypic spectrum that includes: CS type I, the "classic" or “moderate” form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal syndrome (COFS) or Pena-Shokeir syndrome type II; CS type III, a milder form; Xeroderma pigmentosum-Cockayne syndrome (XP-CS). CS type I (moderate CS) is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II (severe CS or early-onset CS) is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age seven years. CS type III (mild CS or late-onset CS) is characterized by essentially normal growth and cognitive development or by late onset. Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, including intellectual disability, spasticity, short stature, and hypogonadism. XP-CS does not include skeletal involvement, the facial phenotype of CS, or CNS dysmyelination and calcifications. [from GeneReviews]

MedGen UID:
40363
Concept ID:
C0009207
Disease or Syndrome
4.

Xeroderma pigmentosum

Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals), with marked freckle-like pigmentation of the face before age two years in most affected individuals; Sunlight-induced ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years). [from GeneReviews]

MedGen UID:
21943
Concept ID:
C0043346
Congenital Abnormality
5.

Proportionate short stature; mild intellectual disability; dysmorphic facial features; precocious puberty

MedGen UID:
850705
Concept ID:
CN231399
Finding
6.

UV-sensitive syndrome

MedGen UID:
798564
Concept ID:
CN200386
Disease or Syndrome
7.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI_NCI-GLOSS]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
8.

Prepared

MedGen UID:
881385
Concept ID:
C4082130
Finding
9.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
10.

Robinow syndrome, autosomal recessive

ROR2-related Robinow syndrome is characterized by distinctive craniofacial features, skeletal abnormalities, and other anomalies. Craniofacial features include macrocephaly, broad prominent forehead, low-set ears, ocular hypertelorism, prominent eyes, midface hypoplasia, short upturned nose with depressed nasal bridge and flared nostrils, large and triangular mouth with exposed incisors and upper gums, gum hypertrophy, misaligned teeth, ankyloglossia, and micrognathia. Skeletal abnormalities include short stature with growth retardation, mesomelic or acromesomelic limb shortening, hemivertebrae with fusion of thoracic vertebrae, and brachydactyly. Other common features include micropenis with or without cryptorchidism in males and reduced clitoral size and hypoplasia of the labia majora in females, renal tract abnormalities, and nail hypoplasia or dystrophy. The disorder is recognizable at birth or in early childhood. [from GeneReviews]

MedGen UID:
341431
Concept ID:
C1849334
Disease or Syndrome
11.

RNA biosynthesis

Used to denote the transcription of DNA into RNA. The biochemical machinery includes sequence-specific DNA binding proteins that directly act in the regulation of the transcription process, other protein factors that participate in the assembly of the transcription complex, and RNA polymerase. [from NCI]

MedGen UID:
272243
Concept ID:
C1328948
Molecular Function
12.

Richards-Rundle syndrome

An extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria. [from SNOMEDCT_US]

MedGen UID:
163219
Concept ID:
C0796136
Disease or Syndrome
13.

Cutaneous photosensitivity

increased sensitivity of the skin to light and other sources of UV [from CHV]

MedGen UID:
87601
Concept ID:
C0349506
Finding; Pathologic Function
14.

DNA Repair-Deficiency Disorders

Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE. [from MeSH]

MedGen UID:
327583
Concept ID:
C1563696
Disease or Syndrome
15.

Durvitan

MedGen UID:
304765
Concept ID:
C1451826
Organic Chemical; Pharmacologic Substance
16.

Dexitac

MedGen UID:
304764
Concept ID:
C1451825
Organic Chemical; Pharmacologic Substance
17.

Quick-Pep

MedGen UID:
294076
Concept ID:
C1608247
Organic Chemical; Pharmacologic Substance
18.

Heredodegenerative Disorders, Nervous System

Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems. [from MeSH]

MedGen UID:
155945
Concept ID:
C0751870
Disease or Syndrome
19.

Caffedrine

MedGen UID:
152517
Concept ID:
C0722959
Organic Chemical; Pharmacologic Substance
20.

Vivarin

MedGen UID:
148987
Concept ID:
C0724373
Organic Chemical; Pharmacologic Substance
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