Xeroderma pigmentosum, group F
- Synonyms
- ERCC4-Related Xeroderma Pigmentosum; XERODERMA PIGMENTOSUM VI; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XERODERMA PIGMENTOSUM, TYPE F; XP, GROUP F; Xeroderma pigmentosum, type 6
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Kenneth H Kraemer
- John J DiGiovanna
- Deborah Tamura
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (47 available)
Genes See tests for all associated and related genes
Also known as: ERCC11, FANCQ, RAD1, XFEPS, XPF, ERCC4
Summary: ERCC excision repair 4, endonuclease catalytic subunit
Clinical features
Help- Abnormal cellular phenotype
- Defective DNA repair after ultraviolet radiation damage
Defective DNA repair after ultraviolet radiation damage
- MedGen UID: 368469
- Concept ID: C1968564
- Finding: Finding
Abnormal cellular phenotype
- Deficient excision of UV-induced pyrimidine dimers in DNA
Deficient excision of UV-induced pyrimidine dimers in DNA
- MedGen UID: 871166
- Concept ID: C4025640
- Finding: Finding
Abnormal cellular phenotype
- Defective DNA repair after ultraviolet radiation damage
- Abnormality of the eye
- Astigmatism
Astigmatism
- MedGen UID: 2473
- Concept ID: C0004106
- Finding: Disease or Syndrome
Abnormality of the eye
- Deeply set eye
Deeply set eye
- MedGen UID: 473112
- Concept ID: C0423224
- Finding: Finding
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Astigmatism
- Abnormality of the integument
- Cutaneous photosensitivity
Cutaneous photosensitivity
- MedGen UID: 87601
- Concept ID: C0349506
- Finding: Pathologic Function
Abnormality of the integument
- Erythema
Erythema
- MedGen UID: 11999
- Concept ID: C0041834
- Finding: Disease or Syndrome
Abnormality of the integument
- Freckling
Freckling
- MedGen UID: 5272
- Concept ID: C0016689
- Finding: Finding
Abnormality of the integument
- Numerous pigmented freckles
Numerous pigmented freckles
- MedGen UID: 369801
- Concept ID: C1968565
- Finding: Finding
Abnormality of the integument
- Papule
Papule
- MedGen UID: 507324
- Concept ID: C0332563
- Finding: Finding
Abnormality of the integument
- Cutaneous photosensitivity
- Abnormality of the musculoskeletal system
- Flexion contracture
Flexion contracture
- MedGen UID: 83069
- Concept ID: C0333068
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Flexion contracture
- Abnormality of the nervous system
- Aplasia/Hypoplasia involving the central nervous system
Aplasia/Hypoplasia involving the central nervous system
- MedGen UID: 871188
- Concept ID: C4025665
- Finding: Finding
Abnormality of the nervous system
- Brain atrophy
Brain atrophy
- MedGen UID: 1643639
- Concept ID: C4551584
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Dementia
Dementia
- MedGen UID: 99229
- Concept ID: C0497327
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Morphological central nervous system abnormality
Morphological central nervous system abnormality
- MedGen UID: 892343
- Concept ID: C4021765
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Tremor
Tremor
- MedGen UID: 21635
- Concept ID: C0040822
- Finding: Sign or Symptom
Abnormality of the nervous system
- Aplasia/Hypoplasia involving the central nervous system
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Hearing impairment
- Growth abnormality
- Decreased body weight
Decreased body weight
- MedGen UID: 1806755
- Concept ID: C5574742
- Finding: Finding
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Decreased body weight
- Neoplasm
- Keratoacanthoma
Keratoacanthoma
- MedGen UID: 5954
- Concept ID: C0022572
- Finding: Neoplastic Process
Neoplasm
- Neoplasm of the skin
Neoplasm of the skin
- MedGen UID: 19993
- Concept ID: C0037286
- Finding: Neoplastic Process
Neoplasm
- Seborrheic keratosis
Seborrheic keratosis
- MedGen UID: 5957
- Concept ID: C0022603
- Finding: Neoplastic Process
Neoplasm
- Skin basal cell carcinoma
Skin basal cell carcinoma
- MedGen UID: 1648304
- Concept ID: C4721806
- Finding: Neoplastic Process
Neoplasm
- Squamous cell carcinoma
Squamous cell carcinoma
- MedGen UID: 2874
- Concept ID: C0007137
- Finding: Neoplastic Process
Neoplasm
- Keratoacanthoma
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