eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	langer-giedion syndrome

Disease ID	434
Disease	langer-giedion syndrome
Definition	Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE).
Synonym	acrodysplasia v acrodysplasia vs chromosome 8q24.1 deletion syndrome giedion langer syndrome giedion-langer syndrome langer giedion syndrome langer-giedion syndrome (disorder) langer-giedion syndrome [disease/finding] lgs syndrome, giedion-langer syndrome, langer-giedion tricho rhino phalangeal syndrome type ii tricho-rhino-phalangeal syndrome type ii trichorhinophalangeal dysplasia type ii trichorhinophalangeal dysplasia type ii (disorder) trichorhinophalangeal syndrome ii trichorhinophalangeal syndrome type 2 trichorhinophalangeal syndrome type ii trichorhinophalangeal syndrome with exostoses trichorhinophalangeal syndrome with exostosis trichorhinophalangeal syndrome, type ii trps ii - trichorhinophalangeal syndrome ii trps2 trpse trpsii
Orphanet	ORPHANET:502
OMIM	OMIM:150230 OMIM:611470
DOID	DOID:4998
UMLS	C0023003
MeSH	D015826
SNOMED-CT	SNOMEDCT_US_2016_09_01:41069008
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 2131 \| EXT1 \| GHR;ORPHANET;UNIPROT 7227 \| TRPS1 \| CTD_human;GHR;ORPHANET;UNIPROT 51557 \| LGSN \| OMIM
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:14) 1585 \| CYP11B2 \| 1.429 \| DISEASES 8667 \| EIF3H \| 4.334 \| DISEASES 2131 \| EXT1 \| 6.197 \| DISEASES 2132 \| EXT2 \| 2.023 \| DISEASES 2134 \| EXTL1 \| 3.395 \| DISEASES 2737 \| GLI3 \| 1.631 \| DISEASES 10320 \| IKZF1 \| 1.685 \| DISEASES 3786 \| KCNQ3 \| 3.274 \| DISEASES 4609 \| MYC \| 1.421 \| DISEASES 5781 \| PTPN11 \| 1.143 \| DISEASES 83695 \| RHNO1 \| 5.315 \| DISEASES 169026 \| SLC30A8 \| 1.717 \| DISEASES 7227 \| TRPS1 \| 6.827 \| DISEASES 157680 \| VPS13B \| 2.237 \| DISEASES
Locus	Symbol \| Locus(Total Locus:2) TRPS1 \| 8q23.3 EXT1 \| 8q24.11

Disease ID	434
Disease	langer-giedion syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:38) HP:0002653 \| Bone pain HP:0004322 \| Short stature HP:0010230 \| Cone-shaped epiphyses of the phalanges of the hand HP:0002119 \| Ventriculomegaly HP:0005039 \| Multiple long-bone exostoses HP:0001373 \| Joint dislocation HP:0000010 \| Recurrent urinary tract infections HP:0001156 \| Brachydactyly syndrome HP:0007598 \| Bilateral single transverse palmar creases HP:0002564 \| Malformation of the heart and great vessels HP:0005743 \| Avascular necrosis of the capital femoral epiphysis HP:0005692 \| Joint hyperflexibility HP:0000343 \| Long philtrum HP:0000164 \| Abnormality of the teeth HP:0000574 \| Thick eyebrow HP:0009118 \| Aplasia/Hypoplasia of the mandible HP:0000076 \| Vesicoureteral reflux HP:0001510 \| Growth delay HP:0002209 \| Sparse scalp hair HP:0000252 \| Microcephaly HP:0002857 \| Genu valgum HP:0000431 \| Wide nasal bridge HP:0009928 \| Thick nasal alae HP:0000405 \| Conductive hearing impairment HP:0001249 \| Intellectual disability HP:0000411 \| Protruding ear HP:0001385 \| Hip dysplasia HP:0001883 \| Talipes HP:0000219 \| Thin upper lip vermilion HP:0001582 \| Redundant skin HP:0002750 \| Delayed skeletal maturation HP:0100777 \| Exostoses HP:0000368 \| Low-set, posteriorly rotated ears HP:0000174 \| Abnormality of the palate HP:0001252 \| Muscular hypotonia HP:0000414 \| Bulbous nose HP:0002002 \| Deep philtrum HP:0011069 \| Increased number of teeth
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0100777 \| Exostoses \| 1

Disease ID	434
Disease	langer-giedion syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C0376293 \| stigmata C0014390 \| entropion C0005940 \| bone disorder
Text Mined Symptom	(Waiting for update.)

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:2)
Chr	Pos	SNP_Id	RefGene	EnsemblGene	ENCODE_Factor	ENCODE_TFBS	Chromosome_interaction	GTEx_eQTL	SNP_TFBS_affinity_GWAS3D	SNP_miRNA_target_affinity_PolymiRTS	SNP_splicing_effect_Skippy	SNP_splicing_effect_MutPred_Splice	SNP_ns_protein_effect_dbNSFP	SNP_syn_effect_Silva	SNP_phosphorylation_effect_PhosSNP	PhastCons_score	PhyloP_score	GERP++_RS	Segway_state	Ancestral_allele	ESP_AF	ESP_AFR	ESP_AFR	ESP_EUR	TG_ASN	TG_AMR	TG_AFR	TG_EUR	Type	Consequence	bStatistic	EncH3K27Ac	EncH3K4Me1	EncH3K4Me3	EncNucleo	OMIM	Clinvar
6	63993375	rs2459572	NM_001143940,LGSN	NM_016571,LGSN	ENST00000485906,ENSG00000146166	ENST00000370658,ENSG00000146166	ENST00000370657,ENSG00000146166	NA	NA	chr6,63990001,64000000,chr16,20450001,20460000,34,Hi-C	chr6,63990001,64000000,chr4,74140001,74150000,6,Hi-C	chr6,63990001,64000000,chr6,55460001,55470000,7,Hi-C	chr6,63990001,64000000,chr4,98420001,98430000,9,Hi-C	chr6,63990001,64000000,chr6,62780001,62790000,12,Hi-C	NA	LM159,2.0769	LM177,1.9965	LM178,3.3405	Broad-complex_2,2.8886	SQUA,7.5884	NA	NA	NA	NA	NA	NA	0.000	0.223	0.881	F0	T	NA	NA	NA	NA	NA	NA
6	64014812	rs9352774	NM_001143940,LGSN	NM_016571,LGSN	ENST00000485906,ENSG00000146166	ENST00000370658,ENSG00000146166	ENST00000370657,ENSG00000146166	NA	NA	chr6,64010001,64020000,chr10,38650001,38660000,11,Hi-C	chr6,64010001,64020000,chr8,7350001,7360000,17,Hi-C	NA	LM5,7.0252	LM40,3.0277	LM40,2.7684	LM181,1.2943	IRF1,5.0028	NA	NA	NA	NA	NA	NA	0.485	0.151	0.13	F1	A	NA	NA	NA	0.120	0.180	0.230	0.010	0.090	Transcript

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

Mapped by lexical matching(Total Items:15)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000431	Wide nasal bridge	MP:0006292	abnormal nasal placode morphology	any structural anomaly in the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epith
HP:0001582	Redundant skin	MP:0010678	abnormal skin adnexa morphology	any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails
HP:0000174	Abnormality of the palate	MP:0010701	fusion of atlas and odontoid process	the large protuberance that projects upward from the cervical axis (C2), around which the cervical atlas normally rotates, is instead fused to elements of the atlas; the odontoid process may or may not remain attached to the axis
HP:0000076	Vesicoureteral reflux	MP:0001948	vesicoureteral reflux	the retrograde flow of urine from the bladder into the ureters and kidneys
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	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
HP:0000405	Conductive hearing impairment	MP:0006325	impaired hearing	reduced ability to perceive auditory stimuli
HP:0000219	Thin upper lip vermilion	MP:0005170	cleft upper lip	defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences
HP:0002209	Sparse scalp hair	MP:0011195	increased hair follicle apoptosis	greater than expected levels of programmed cell death of cells in the epidermis from which the hair shaft develops
HP:0011069	Increased number of teeth	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
HP:0005743	Avascular necrosis of the capital femoral epiphysis	MP:0008752	abnormal tumor necrosis factor level	deviation from the normal levels of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in in
HP:0000164	Abnormality of the teeth	MP:0010382	abnormal dosage compensation, by inactivation of X chromosome	anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex
HP:0001252	Muscular hypotonia	MP:0004144	hypotonia	decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness
HP:0000010	Recurrent urinary tract infections	MP:0014044	absent cardiac outflow tract	absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions
HP:0000411	Protruding ear	MP:0005105	abnormal middle ear ossicle morphology	any structural anomaly of the three small bones of the middle ear
HP:0002750	Delayed skeletal maturation	MP:0003379	absent sexual maturation	failure to initiate pubertal changes that result in achievement of full sexual capacity

Mapped by homologous gene(Total Items:36)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001252	Muscular hypotonia	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0007598	Bilateral single transverse palmar creases	MP:0012279	wide sternum	an increase in the width of the long flat bone of the chest that articulates with the clavicle and first seven rib pairs
HP:0000411	Protruding ear	MP:0020157	abnormal behavioral response to alcohol	any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0001385	Hip dysplasia	MP:0013293	embryonic lethality prior to tooth bud stage	death prior to the appearance of tooth buds (Mus: E12-E12.5)
HP:0001883	Talipes	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002653	Bone pain	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000219	Thin upper lip vermilion	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0000164	Abnormality of the teeth	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0002119	Ventriculomegaly	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000174	Abnormality of the palate	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0004322	Short stature	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001510	Growth delay	MP:0020169	increased thyroid gland weight	higher than average weight of the thyroid gland
HP:0000076	Vesicoureteral reflux	MP:0014155	absent olfactory epithelium	absence of the epithelial cells that line the interior of the nose
HP:0005743	Avascular necrosis of the capital femoral epiphysis	MP:0014164	abnormal ciliary process morphology	any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter
HP:0002002	Deep philtrum	MP:0020040	decreased bone ossification	decrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0002857	Genu valgum	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0001156	Brachydactyly syndrome	MP:0020157	abnormal behavioral response to alcohol	any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0000574	Thick eyebrow	MP:0020157	abnormal behavioral response to alcohol	any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0001373	Joint dislocation	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0005039	Multiple long-bone exostoses	MP:0012760	decreased cranial neural crest cell proliferation	reduced ability of the cranial neural crest cells (NCCs) to undergo rapid expansion by cell division
HP:0000405	Conductive hearing impairment	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001582	Redundant skin	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0001249	Intellectual disability	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0009928	Thick nasal alae	MP:0004924	abnormal behavior	any anomaly in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls
HP:0000343	Long philtrum	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000368	Low-set, posteriorly rotated ears	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000414	Bulbous nose	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0002750	Delayed skeletal maturation	MP:0020169	increased thyroid gland weight	higher than average weight of the thyroid gland
HP:0000010	Recurrent urinary tract infections	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0005692	Joint hyperflexibility	MP:0012125	decreased bronchoconstrictive response	reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography
HP:0100777	Exostoses	MP:0014178	increased brain apoptosis	increase in the number of cells of the brain undergoing programmed cell death
HP:0011069	Increased number of teeth	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
HP:0000252	Microcephaly	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000431	Wide nasal bridge	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002209	Sparse scalp hair	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone

Disease ID	434
Disease	langer-giedion syndrome
Case	(Waiting for update.)