| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (45.7%) |
14636323 |
An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits. Doherty MJ, Glass IA, Bennett CL, Cotter PD, Watson NF, Mitchell AL, Bird TD, Farrell DF. Epilepsia. 2003;44(12):1529-35. |
| Mesomelia | ||
| ARSE ASMT SHOX STS VCX3A | ||
| Adult Child Child, Preschool Chromosome Banding Chromosome Breakage Chromosome Deletion Chromosomes, Human, X Chromosomes, Human, Y Developmental Disabilities Dwarfism Epilepsy, Generalized Fluorescent in Situ Hybridization Genetic Carrier Screening Genetic Markers Homo sapiens Ichthyosis, X-Linked Infant Infant, Newborn Male Nuclear Proteins Osteochondrodysplasias Phenotype Polymerase Chain Reaction Sex Chromosome Aberrations Sibling Syndrome | ||
| 2 (39.0%) |
27192889 |
CO-OCCURRENCE OF PRIMARY MICROCEPHALY CAUSED BY A NOVEL HOMOZYGOUS ASPM MUTATION ALONG WITH X-LINKED ICHTHYOSIS IN THE SAME PATIENT. Abdel-Hamid MS, Ismail MF, Darwish HA, Effat LK, Zaki MS, Abdel-Salam GM. Genet Couns. 2016;27(1):25-33. |
| Microcephaly | ||
| ASPM STS | ||
| c|SUB|G|2936+1|A | ||
| Child, Preschool DNA Mutational Analysis Developmental Disabilities Egypt Homo sapiens Homozygote Ichthyosis, X-Linked Male Microcephaly Mutation Nerve Tissue Proteins | ||
| 3 (33.8%) |
15231983 |
Nutritional rickets in ichthyosis and response to calcipotriene. Thacher TD, Fischer PR, Pettifor JM, Darmstadt GL. Pediatrics. 2004;114(1):e119-23. |
| Rickets Enlargement of the wrists | ||
| Administration, Cutaneous Child Congenital Nonbullous Ichthyosiform Erythroderma Dermatologic Agents Females Homo sapiens Ichthyosis, X-Linked Male Ointments Rickets Vitamin D Deficiency | ||
| 4 (26.3%) |
25373814 |
Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey. Prasad C, Rupar CA, Campbell C, Napier M, Ramsay D, Tay KY, Sharan S, Prasad AN. Can J Neurol Sci. 2014;41(5):626-31. |
| Coarse facial features | ||
| ARSA ARSH SUMF1 | ||
| c|SUB|C|1045|T;RS#:147405528|137852846 c|SUB|C|836|T;RS#:137852849 p|SUB|A|279|V;RS#:137852849 p|SUB|R|349|W;RS#:137852846 rs137852849 | ||
| Albinism, Ocular Child, Preschool Differential Diagnosis Homo sapiens Male Multiple Sulfatase Deficiency Disease | ||
| 4 (26.3%) |
19697114 |
Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient. Artigalas OA, da Silva LR, Burin M, Pastores GM, Zeng B, Macedo N, Schwartz IV. Metab Brain Dis. 2009;24(3):493-500. |
| Coarse facial features | ||
| ARSH SUMF1 | ||
| p|SUB|F|244|S p|SUB|R|349|G | ||
| Brain Brazil Child, Preschool Dermatan Sulfate Differential Diagnosis Heparitin Sulfate Homo sapiens Intellectual Disability Male Multiple Sulfatase Deficiency Disease Mutation Oxidoreductases Acting on Sulfur Group Donors Sulfatases X-Ray Computed Tomography | ||
| 4 (26.3%) |
10396356 |
An atypical contiguous gene syndrome: molecular studies in a family with X-linked Kallmann's syndrome and X-linked ichthyosis. Maya-Nunez G, Torres L, Ulloa-Aguirre A, Zenteno JC, Cuevas-Covarrubias S, Saavedra-Ontiveros D, Kofman-Alfaro S, Mendez JP. Clin Endocrinol (Oxf). 1999;50(2):157-62. |
| Hypogonadotropic hypogonadism Anosmia | ||
| ANOS1 STS | ||
| Adult Arylsulfatases Child Exons Females Gene Deletion Homo sapiens Ichthyosis, X-Linked Kallmann Syndrome Leukocytes Male Middle Aged Polymerase Chain Reaction | ||
| 4 (26.3%) |
9727739 |
Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation. Weissortel R, Strom TM, Dorr HG, Rauch A, Meitinger T. Clin Genet. 1998;54(1):45-51. |
| Hypogonadism Hyposmia | ||
| ANOS1 DLG3 PUDP STS | ||
| Chromosome Mapping DNA Mutational Analysis Fluorescent in Situ Hybridization Homo sapiens Ichthyosis, X-Linked Intellectual Disability Kallmann Syndrome Male Sequence Deletion X Chromosome | ||
| 4 (26.3%) |
9713559 |
Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene. Maya-Nunez G, Cuevas-Covarrubias S, Zenteno JC, Ulloa-Aguirre A, Kofman-Alfaro S, Mendez JP. Clin Endocrinol (Oxf). 1998;48(6):713-8. |
| Hypogonadotropic hypogonadism Anosmia | ||
| Adult Arylsulfatases Exons Gene Deletion Homo sapiens Ichthyosis, X-Linked Kallmann Syndrome Male Polymerase Chain Reaction | ||
| 4 (26.3%) |
9499614 |
X-linked ichthyosis with hypogonadism: not always Kallmann's syndrome. Quinton R, Schofield JK, Duke VM, Bouloux PM, Buchanan CR, Leigh IM, Wood DF. Clin Exp Dermatol. 1997;22(4):201-4. |
| Cryptorchidism Anosmia | ||
| ANOS1 STS | ||
| Delayed Puberty Differential Diagnosis Homo sapiens Hypogonadism Ichthyosis, X-Linked Kallmann Syndrome Male Middle Aged | ||
| 4 (26.3%) |
9336808 |
Ichthyosis: the skin manifestation of multiple sulfatase deficiency. Castano Suarez E, Segurado Rodriguez A, Guerra Tapia A, Simon de las Heras R, Lopez-Rios F, Coll Rosell MJ. Pediatr Dermatol. 1997;14(5):369-72. |
| Coarse facial features | ||
| ARSA ARSB ARSH STS | ||
| Child Females Homo sapiens Ichthyoses Intellectual Disability Leukocytes Leukodystrophy, Metachromatic Male Skin Sulfatases |
Total: 9
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000958 | Dry skin | Very frequent (99-80%) |
| HP:0000962 | Hyperkeratosis | Very frequent (99-80%) |
| HP:0000966 | Hypohidrosis | Very frequent (99-80%) |
| HP:0008064 | Ichthyosis | Very frequent (99-80%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Frequent (79-30%) |
| HP:0007759 | Opacification of the corneal stroma | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000717 | Autism | Occasional (29-5%) |
| HP:0002167 | Neurological speech impairment | Occasional (29-5%) |
Total: 24
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000135 | Hypogonadism | 4 |
| HP:0000458 | Anosmia | 4 |
| HP:0000044 | Hypogonadotrophic hypogonadism | 2 |
| HP:0004322 | Short stature | 2 |
| HP:0004409 | Hyposmia | 2 |
| HP:0000028 | Cryptorchidism | 1 |
| HP:0000054 | Micropenis | 1 |
| HP:0000099 | Glomerulonephritis | 1 |
| HP:0000100 | Nephrotic syndrome | 1 |
| HP:0000709 | Psychosis | 1 |
| HP:0000717 | Autism | 1 |
| HP:0000962 | Hyperkeratosis | 1 |
| HP:0000964 | Eczema | 1 |
| HP:0001019 | Erythroderma | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0002021 | Pyloric stenosis | 1 |
| HP:0002323 | Anencephaly | 1 |
| HP:0003027 | Mesomelia | 1 |
| HP:0003198 | Myopathy | 1 |
| HP:0007018 | Attention deficit hyperactivity disorder | 1 |
| HP:0007957 | Corneal opacity | 1 |
| HP:0012588 | Steroid-resistant nephrotic syndrome | 1 |
| HP:0040189 | Scaling skin | 1 |
| HP:0200020 | Corneal erosion | 1 |