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	sertoli cell-only syndrome

Disease ID	1018
Disease	sertoli cell-only syndrome
Definition	A type of male infertility in which no germ cells are visible in any of the biopsied SEMINIFEROUS TUBULES (type I) or in which germ cells are present in a minority of tubules (type II). Clinical features include AZOOSPERMIA, normal VIRILIZATION, and normal chromosomal complement.
Synonym	azf - azoospermia factor azoospermia factor congenital absence of germinal epithelium of testes congenital absence of germinal epithelium of testes (disorder) del castillo syndrome del castillo's syndrome gene deletion in azf region of y chromosome germinal aplasia germinal cell absence germinal cell aplasia sertoli cell only syndrome sertoli cell-only syndrome [disease/finding] sertoli-cell-only syndrome spermatogenic failure, x-linked, 1 spgfx1
OMIM	OMIM:305700
DOID	DOID:0050457
UMLS	C1384583
MeSH	D054331
SNOMED-CT	SNOMEDCT_US_2016_09_01:73465006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:4) C0004509 \| azoospermia \| 3 C0021364 \| male infertility \| 1 C0021359 \| infertility \| 1 C0028960 \| hypospermatogenesis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 83844 \| USP26 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:96) 91 \| ACVR1B \| 1.886 \| DISEASES 93 \| ACVR2B \| 1.686 \| DISEASES 8852 \| AKAP4 \| 2.306 \| DISEASES 367 \| AR \| 1.939 \| DISEASES 9083 \| BPY2 \| 2.704 \| DISEASES 442867 \| BPY2B \| 2.704 \| DISEASES 442868 \| BPY2C \| 2.704 \| DISEASES 834 \| CASP1 \| 1.139 \| DISEASES 9034 \| CCRL2 \| 2.544 \| DISEASES 203611 \| CDY2B \| 2.853 \| DISEASES 1365 \| CLDN3 \| 1.201 \| DISEASES 120227 \| CYP2R1 \| 1.769 \| DISEASES 1617 \| DAZ1 \| 5.885 \| DISEASES 57054 \| DAZ3 \| 3.978 \| DISEASES 57135 \| DAZ4 \| 5.552 \| DISEASES 139170 \| DCAF12L1 \| 4.632 \| DISEASES 780 \| DDR1 \| 1.596 \| DISEASES 1654 \| DDX3X \| 2.689 \| DISEASES 8653 \| DDX3Y \| 5.345 \| DISEASES 54514 \| DDX4 \| 4.13 \| DISEASES 352909 \| DNAAF3 \| 3.437 \| DISEASES 1893 \| ECM1 \| 2.495 \| DISEASES 9086 \| EIF1AY \| 3.209 \| DISEASES 8672 \| EIF4G3 \| 3.456 \| DISEASES 2100 \| ESR2 \| 1.484 \| DISEASES 80712 \| ESX1 \| 1.648 \| DISEASES 114907 \| FBXO32 \| 1.071 \| DISEASES 2254 \| FGF9 \| 1.713 \| DISEASES 22887 \| FOXJ3 \| 3.421 \| DISEASES 2492 \| FSHR \| 1.376 \| DISEASES 23193 \| GANAB \| 2.254 \| DISEASES 2618 \| GART \| 1.702 \| DISEASES 2668 \| GDNF \| 1.238 \| DISEASES 199720 \| GGN \| 1.884 \| DISEASES 9146 \| HGS \| 1.725 \| DISEASES 3009 \| HIST1H1B \| 2.21 \| DISEASES 84072 \| HORMAD1 \| 2.543 \| DISEASES 3284 \| HSD3B2 \| 1.829 \| DISEASES 3399 \| ID3 \| 1.435 \| DISEASES 3640 \| INSL3 \| 1.619 \| DISEASES 10300 \| KATNB1 \| 3.119 \| DISEASES 55818 \| KDM3A \| 2.03 \| DISEASES 8284 \| KDM5D \| 1.947 \| DISEASES 79648 \| MCPH1 \| 1.779 \| DISEASES 25834 \| MGAT4C \| 1.637 \| DISEASES 27030 \| MLH3 \| 1.946 \| DISEASES 4439 \| MSH5 \| 2.14 \| DISEASES 7827 \| NPHS2 \| 1.722 \| DISEASES 190 \| NR0B1 \| 2.472 \| DISEASES 2516 \| NR5A1 \| 1.002 \| DISEASES 26471 \| NUPR1 \| 1.902 \| DISEASES 56001 \| NXF2 \| 2.646 \| DISEASES 728343 \| NXF2B \| 2.646 \| DISEASES 5017 \| OVOL1 \| 2.83 \| DISEASES 5111 \| PCNA \| 2.869 \| DISEASES 5223 \| PGAM1 \| 2.067 \| DISEASES 441531 \| PGAM4 \| 2.727 \| DISEASES 5236 \| PGM1 \| 1.322 \| DISEASES 55124 \| PIWIL2 \| 1.726 \| DISEASES 5424 \| POLD1 \| 1.878 \| DISEASES 5501 \| PPP1CC \| 2.167 \| DISEASES 283571 \| PROX2 \| 3.42 \| DISEASES 5634 \| PRPS2 \| 2.418 \| DISEASES 442865 \| PRYP3 \| 2.129 \| DISEASES 642636 \| RAD21L1 \| 3.783 \| DISEASES 64783 \| RBM15 \| 1.893 \| DISEASES 51634 \| RBMX2 \| 3.569 \| DISEASES 378949 \| RBMY1D \| 3.156 \| DISEASES 285498 \| RNF212 \| 4.33 \| DISEASES 26135 \| SERBP1 \| 2.798 \| DISEASES 6418 \| SET \| 1.816 \| DISEASES 6462 \| SHBG \| 1.331 \| DISEASES 25942 \| SIN3A \| 2.174 \| DISEASES 133482 \| SLCO6A1 \| 2.721 \| DISEASES 6080 \| SNORA73A \| 2.514 \| DISEASES 6625 \| SNRNP70 \| 2.455 \| DISEASES 353324 \| SPATA12 \| 3.949 \| DISEASES 83893 \| SPATA16 \| 3.527 \| DISEASES 128153 \| SPATA17 \| 4.576 \| DISEASES 84690 \| SPATA22 \| 4.202 \| DISEASES 124783 \| SPATA32 \| 3.884 \| DISEASES 23626 \| SPO11 \| 2.632 \| DISEASES 6736 \| SRY \| 2.499 \| DISEASES 6847 \| SYCP1 \| 3.629 \| DISEASES 81550 \| TDRD3 \| 3.587 \| DISEASES 9375 \| TM9SF2 \| 4.003 \| DISEASES 339168 \| TMEM95 \| 4.632 \| DISEASES 7258 \| TSPY1 \| 1.778 \| DISEASES 100289087 \| TSPY10 \| 1.814 \| DISEASES 83844 \| USP26 \| 4.349 \| DISEASES 8287 \| USP9Y \| 5.307 \| DISEASES 7404 \| UTY \| 3.479 \| DISEASES 6375 \| XCL1 \| 1.513 \| DISEASES 7704 \| ZBTB16 \| 1.251 \| DISEASES 171017 \| ZNF384 \| 2.358 \| DISEASES 81931 \| ZNF93 \| 3.745 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1018
Disease	sertoli cell-only syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:4) HP:0001939 \| Laboratory abnormality HP:0000765 \| Abnormality of the thorax HP:0000771 \| Gynaecomastia HP:0001513 \| Obesity
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0000027 \| Azoospermia \| 3 HP:0003251 \| Male infertility \| 2 HP:0000789 \| Infertility \| 2 HP:0011962 \| Obstructive azoospermia \| 1

Disease ID	1018
Disease	sertoli cell-only syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0004509 \| azoospermia \| 2

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:2)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000765	Abnormality of the thorax	MP:0013620	increased internal diameter of femur	increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur
HP:0001939	Abnormality of metabolism/homeostasis	MP:0020010	decreased bone mineral density of femur	reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh

Mapped by homologous gene(Total Items:4)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001939	Abnormality of metabolism/homeostasis	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000765	Abnormality of the thorax	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000771	Gynecomastia	MP:0014198	absent pituitary infundibular stalk	absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland
HP:0001513	Obesity	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals

Disease ID	1018
Disease	sertoli cell-only syndrome
Case	(Waiting for update.)

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