| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (40.9%) |
18637129 (2605190) |
Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2). Emmert S, Ueda T, Zumsteg U, Weber P, Khan SG, Oh KS, Boyle J, Laspe P, Zachmann K, Boeckmann L, Kuschal C, Bircher A, Kraemer KH. Exp Dermatol. 2009;18(1):64-8. |
| Conjunctivitis Pterygium | ||
| ERCC2 | ||
| c|DEL|2009|G c|SUB|C|2047|T;RS#:41556519 p|FS|G|670|A|39 p|SUB|R|683|W;RS#:41556519 | ||
| DNA Mutational Analysis DNA Repair Fibroblasts Gene Deletion Homo sapiens Male Mutation Phenotype Skin Skin Neoplasms Sunlight Ultraviolet Rays Xeroderma Pigmentosum | ||
| 2 (39.8%) |
23601806 (3702678) |
Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage. Brooks BP, Thompson AH, Bishop RJ, Clayton JA, Chan CC, Tsilou ET, Zein WM, Tamura D, Khan SG, Ueda T, Boyle J, Oh KS, Imoto K, Inui H, Moriwaki S, Emmert S, Iliff NT, Bradford P, Digiovanna JJ, Kraemer KH. Ophthalmology. 2013;120(7):1324-36. |
| Blepharitis Corneal scarring | ||
| Adult Child Child, Preschool Cockayne Syndrome DNA DNA Repair Females Follow-Up Studies Homo sapiens Infant Male Middle Aged Retrospective Studies Sunlight Trichothiodystrophy Syndromes Ultraviolet Rays Visual Acuity Xeroderma Pigmentosum Young Adult | ||
| 3 (39.0%) |
29421601 |
Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3. La Serna-Infantes J, Pastor MC, Trubnykova M, Velasquez FC, Sotomayor FV, Barriga HA. Eur J Med Genet. 2018;61(7):388-392. |
| Microcephaly | ||
| MPLKIP SUGCT | ||
| Adaptor Proteins, Signal Transducing Amino Acid Metabolism, Inborn Errors Child Coenzyme A-Transferases Females Gene Deletion Homo sapiens Microarray Analysis Oxidoreductase Peru Trichothiodystrophy Syndromes | ||
| 3 (39.0%) |
28255305 (5309409) |
Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis-Cacchione Syndrome and a Novel XPC Mutation. Uribe-Bojanini E, Hernandez-Quiceno S, Cock-Rada AM. Case Rep Med. 2017;2017:7162737. |
| Microcephaly | ||
| c|SUB|A|547|T | ||
| 3 (39.0%) |
25612912 |
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A. Corbett MA, Dudding-Byth T, Crock PA, Botta E, Christie LM, Nardo T, Caligiuri G, Hobson L, Boyle J, Mansour A, Friend KL, Crawford J, Jackson G, Vandeleur L, Hackett A, Tarpey P, Stratton MR, Turner G, Gecz J, Field M. J Med Genet. 2015;52(4):269-74. |
| Microcephaly | ||
| RNF113A | ||
| c|SUB|C|901|T;RS#:794726863 p|SUB|Q|301|*;RS#:794726863 rs794726863 | ||
| Amino Acid Sequence Codon, Nonsense DNA Mutational Analysis DNA-Binding Proteins Homo sapiens Male Molecular Sequence Data Trichothiodystrophy Syndromes | ||
| 3 (39.0%) |
8346100 |
Trichothiodystrophy and associated anomalies: a variant of SIBIDS or new symptom complex? Hersh JH, Klein LR, Joyce MR, Hordinsky MK, Tsai MY, Paller A, Hyzer R, Zax RH. Pediatr Dermatol. 1993;10(2):117-22. |
| Microcephaly | ||
| Growth Disorders Hair Diseases Homo sapiens Ichthyoses Infant, Newborn Intellectual Disability Male Microscopy, Polarization Osteosclerosis Phenotype X-Ray Computed Tomography | ||
| 7 (30.8%) |
10604009 |
[Trichothiodystrophy: progresssive manifestations]. Foulc P, Jumbou O, David A, Sarasin A, Stalder JF. Ann Dermatol Venereol. 1999;126(10):703-7. |
| Decreased fertility Ankyloblepharon | ||
| Cataract Child DNA Helicases DNA Repair DNA-Binding Proteins Follow-Up Studies Genes, Recessive Hair Homo sapiens Ichthyoses Infant, Newborn Male Nails, Malformed Neurocutaneous Syndromes Phenotype Photosensitivity Disorders Proteins Psychomotor Disorders Skin Diseases, Vesiculobullous | ||
| 8 (23.3%) |
7979027 |
[Trichothiodystrophy and hypereosinophilic syndrome, an unusual association]. Feier V, Solovan C. Ann Dermatol Venereol. 1994;121(2):151-5. |
| Urticaria Kyphoscoliosis | ||
| Females Hair Diseases Homo sapiens Ichthyoses Middle Aged Nail Diseases | ||
| 9 (21.2%) |
3353149 |
The trichothiodystrophy syndrome of Pollitt. Chapman S. Pediatr Radiol. 1988;18(2):154-6. |
| Decreased fertility Osteopenia | ||
| Child, Preschool Dwarfism Hair Homo sapiens Intellectual Disability Male Osteosclerosis Syndrome | ||
| 9 (21.2%) |
2692405 |
Central osteosclerosis with ectodermal dysplasia: clinical, laboratory, radiologic, and histopathologic characterization with review of the literature. Civitelli R, McAlister WH, Teitelbaum SL, Whyte MP. J Bone Miner Res. 1989;4(6):863-75. |
| Decreased fertility Osteopenia | ||
| Bone and Bones Child Ectodermal Dysplasia Hair Homo sapiens Male Osteosclerosis |
Total: 92
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000133 | Gonadal dysgenesis | Occasional (29-5%) |
| HP:0000252 | Microcephaly | Occasional (29-5%) |
| HP:0000278 | Retrognathia | Occasional (29-5%) |
| HP:0000280 | Coarse facial features | Occasional (29-5%) |
| HP:0000286 | Epicanthus | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000320 | Bird-like facies | Occasional (29-5%) |
| HP:0000411 | Protruding ear | Occasional (29-5%) |
| HP:0000482 | Microcornea | Occasional (29-5%) |
| HP:0000483 | Astigmatism | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000509 | Conjunctivitis | Occasional (29-5%) |
| HP:0000519 | Developmental cataract | Occasional (29-5%) |
| HP:0000545 | Myopia | Occasional (29-5%) |
| HP:0000546 | Retinal degeneration | Occasional (29-5%) |
| HP:0000565 | Esotropia | Occasional (29-5%) |
| HP:0000601 | Hypotelorism | Occasional (29-5%) |
| HP:0000608 | Macular degeneration | Occasional (29-5%) |
| HP:0000613 | Photophobia | Occasional (29-5%) |
| HP:0000639 | Nystagmus | Occasional (29-5%) |
| HP:0000656 | Ectropion | Occasional (29-5%) |
| HP:0000670 | Carious teeth | Occasional (29-5%) |
| HP:0000938 | Osteopenia | Occasional (29-5%) |
| HP:0000958 | Dry skin | Occasional (29-5%) |
| HP:0000964 | Eczema | Occasional (29-5%) |
| HP:0000992 | Cutaneous photosensitivity | Occasional (29-5%) |
| HP:0001097 | Keratoconjunctivitis sicca | Occasional (29-5%) |
| HP:0001197 | Abnormality of prenatal development or birth | Occasional (29-5%) |
| HP:0001217 | Clubbing | Occasional (29-5%) |
| HP:0001257 | Spasticity | Occasional (29-5%) |
| HP:0001260 | Dysarthria | Occasional (29-5%) |
| HP:0001263 | Global developmental delay | Occasional (29-5%) |
| HP:0001265 | Hyporeflexia | Occasional (29-5%) |
| HP:0001276 | Hypertonia | Occasional (29-5%) |
| HP:0001290 | Generalized hypotonia | Occasional (29-5%) |
| HP:0001338 | Partial agenesis of the corpus callosum | Occasional (29-5%) |
| HP:0001363 | Craniosynostosis | Occasional (29-5%) |
| HP:0001373 | Joint dislocation | Occasional (29-5%) |
| HP:0001511 | Intrauterine growth retardation | Occasional (29-5%) |
| HP:0001537 | Umbilical hernia | Occasional (29-5%) |
| HP:0001598 | Concave nail | Occasional (29-5%) |
| HP:0001618 | Dysphonia | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001638 | Cardiomyopathy | Occasional (29-5%) |
| HP:0001807 | Ridged nail | Occasional (29-5%) |
| HP:0001808 | Fragile nails | Occasional (29-5%) |
| HP:0001809 | Split nail | Occasional (29-5%) |
| HP:0001875 | Neutropenia | Occasional (29-5%) |
| HP:0001903 | Anemia | Occasional (29-5%) |
| HP:0002066 | Gait ataxia | Occasional (29-5%) |
| HP:0002080 | Intention tremor | Occasional (29-5%) |
| HP:0002119 | Ventriculomegaly | Occasional (29-5%) |
| HP:0002120 | Cerebral cortical atrophy | Occasional (29-5%) |
| HP:0002197 | Generalized-onset seizure | Occasional (29-5%) |
| HP:0002209 | Sparse scalp hair | Occasional (29-5%) |
| HP:0002293 | Alopecia of scalp | Occasional (29-5%) |
| HP:0002299 | Brittle hair | Occasional (29-5%) |
| HP:0002562 | Low-set nipples | Occasional (29-5%) |
| HP:0002705 | High, narrow palate | Occasional (29-5%) |
| HP:0002719 | Recurrent infections | Occasional (29-5%) |
| HP:0002750 | Delayed skeletal maturation | Occasional (29-5%) |
| HP:0002828 | Multiple joint contractures | Occasional (29-5%) |
| HP:0002860 | Squamous cell carcinoma | Occasional (29-5%) |
| HP:0002942 | Thoracic kyphosis | Occasional (29-5%) |
| HP:0003079 | Defective DNA repair after ultraviolet radiation damage | Occasional (29-5%) |
| HP:0003139 | Panhypogammaglobulinemia | Occasional (29-5%) |
| HP:0006297 | Hypoplasia of dental enamel | Occasional (29-5%) |
| HP:0006538 | Recurrent bronchopulmonary infections | Occasional (29-5%) |
| HP:0006970 | Periventricular leukomalacia | Occasional (29-5%) |
| HP:0007034 | Generalized hyperreflexia | Occasional (29-5%) |
| HP:0007256 | Abnormal pyramidal sign | Occasional (29-5%) |
| HP:0007266 | Cerebral dysmyelination | Occasional (29-5%) |
| HP:0007381 | Congenital exfoliative erythroderma | Occasional (29-5%) |
| HP:0007495 | Prematurely aged appearance | Occasional (29-5%) |
| HP:0007519 | Lack of subcutaneous fatty tissue | Occasional (29-5%) |
| HP:0007587 | Numerous pigmented freckles | Occasional (29-5%) |
| HP:0007633 | Bilateral microphthalmos | Occasional (29-5%) |
| HP:0008064 | Ichthyosis | Occasional (29-5%) |
| HP:0008386 | Aplasia/Hypoplasia of the nails | Occasional (29-5%) |
| HP:0008391 | Dystrophic fingernails | Occasional (29-5%) |
| HP:0008619 | Bilateral sensorineural hearing impairment | Occasional (29-5%) |
| HP:0009830 | Peripheral neuropathy | Occasional (29-5%) |
| HP:0010551 | Paraplegia/paraparesis | Occasional (29-5%) |
| HP:0011001 | Increased bone mineral density | Occasional (29-5%) |
| HP:0012760 | Impaired social reciprocity | Occasional (29-5%) |
| HP:0025356 | Psychomotor retardation | Occasional (29-5%) |
| HP:0025428 | Bronchospasm | Occasional (29-5%) |
| HP:0025548 | Increased mean corpuscular hemoglobin concentration | Occasional (29-5%) |
| HP:0045055 | Tiger tail banding | Occasional (29-5%) |
| HP:0100275 | Diffuse cerebellar atrophy | Occasional (29-5%) |
| HP:0410219 | Hypoplasia of mandible relative to maxilla | Occasional (29-5%) |
Total: 39
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002299 | Brittle hair | 23 |
| HP:0004322 | Short stature | 11 |
| HP:0000144 | Decreased fertility | 10 |
| HP:0005387 | Combined immunodeficiency | 3 |
| HP:0410252 | Chronic neutropenia | 3 |
| HP:0000518 | Cataract | 2 |
| HP:0002164 | Nail dysplasia | 2 |
| HP:0008404 | Nail dystrophy | 2 |
| HP:0000135 | Hypogonadism | 1 |
| HP:0000252 | Microcephaly | 1 |
| HP:0000411 | Protruding ear | 1 |
| HP:0000486 | Strabismus | 1 |
| HP:0000491 | Keratitis | 1 |
| HP:0000501 | Glaucoma | 1 |
| HP:0000580 | Pigmentary retinopathy | 1 |
| HP:0000639 | Nystagmus | 1 |
| HP:0000648 | Optic atrophy | 1 |
| HP:0000717 | Autism | 1 |
| HP:0000821 | Hypothyroidism | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001251 | Ataxia | 1 |
| HP:0001257 | Spasticity | 1 |
| HP:0001297 | Stroke | 1 |
| HP:0001597 | Abnormality of the nail | 1 |
| HP:0001888 | Lymphopenia | 1 |
| HP:0002059 | Cerebral atrophy | 1 |
| HP:0002313 | Spastic paraparesis | 1 |
| HP:0002448 | Progressive encephalopathy | 1 |
| HP:0002721 | Immunodeficiency | 1 |
| HP:0002751 | Kyphoscoliosis | 1 |
| HP:0006846 | Acute encephalopathy | 1 |
| HP:0006965 | Acute necrotizing encephalopathy | 1 |
| HP:0007431 | Congenital ichthyosiform erythroderma | 1 |
| HP:0009886 | Trichorrhexis nodosa | 1 |
| HP:0011003 | High myopia | 1 |
| HP:0012041 | Decreased fertility in males | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0045055 | Tiger tail banding | 1 |
Total: 6
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|---|---|
| MPLKIP | M-phase specific PLK1 interacting protein | 136647 |
| ERCC2 | ERCC excision repair 2, TFIIH core complex helicase subunit | 2068 |
| GTF2H5 | general transcription factor IIH subunit 5 | 404672 |
| ERCC3 | ERCC excision repair 3, TFIIH core complex helicase subunit | 2071 |
| RNF113A | ring finger protein 113A | 7737 |
| GTF2E2 | general transcription factor IIE subunit 2 | 2961 |