eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| laurence-moon syndrome | ||||
| Disease ID | 517 |
|---|---|
| Disease | laurence-moon syndrome |
| Definition | An autosomal recessive condition characterized by hypogonadism; spinocerebellar degeneration; MENTAL RETARDATION; RETINITIS PIGMENTOSA; and OBESITY. This syndrome was previously referred to as Laurence-Moon-Biedl syndrome until BARDET-BIEDL SYNDROME was identified as a distinct entity. (From N Engl J Med. 1989 Oct 12;321(15):1002-9) |
| Synonym | biedl laurence moon syndrome biedl lawrence moon syndrome laurence moon biedl syndrome laurence moon syndrome laurence-moon syndrome (disorder) laurence-moon syndrome [disease/finding] laurence-moon-biedl syndrome laurence-moon-biedl syndrome (disorder) lawrence moon biedl syndrome lnms syndrome, laurence-moon syndrome, laurence-moon-biedl |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0023138 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0006142 | breast cancer | 2 C0025362 | mental retardation | 1 C0038379 | strabismus | 1 C0020619 | hypogonadism | 1 C0028738 | nystagmus | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:4) |
| Locus | Symbol | Locus(Total Locus:1) PNPLA6 | 19p13.2 |
| Disease ID | 517 |
|---|---|
| Disease | laurence-moon syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:24) HP:0000639 | Nystagmus HP:0000028 | Cryptorchidism HP:0000518 | Cataract HP:0004322 | Short stature HP:0000248 | Brachycephaly HP:0008736 | Hypoplasia of penis HP:0001156 | Brachydactyly syndrome HP:0000083 | Renal insufficiency HP:0007598 | Bilateral single transverse palmar creases HP:0001251 | Ataxia HP:0006101 | Finger syndactyly HP:0002564 | Malformation of the heart and great vessels HP:0000486 | Strabismus HP:0000407 | Sensorineural hearing impairment HP:0000612 | Iris coloboma HP:0002612 | Congenital hepatic fibrosis HP:0005978 | Type II diabetes mellitus HP:0000286 | Epicanthus HP:0100627 | Displacement of the external urethral meatus HP:0009896 | Abnormality of the antitragus HP:0001249 | Intellectual disability HP:0001513 | Obesity HP:0000368 | Low-set, posteriorly rotated ears HP:0001161 | Hand polydactyly |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0003002 | Breast carcinoma | 2 HP:0000639 | Nystagmus | 1 HP:0001249 | Mental retardation | 1 HP:0000135 | Hypogonadism | 1 HP:0000486 | Squint eyes | 1 |
| Disease ID | 517 |
|---|---|
| Disease | laurence-moon syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100627 | Displacement of the external urethral meatus | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0000083 | Renal insufficiency | MP:0003335 | exocrine pancreatic insufficiency | inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| HP:0006101 | Finger syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
| HP:0001161 | Hand polydactyly | MP:0009744 | postaxial polydactyly | duplication of all or part of any of the rays except the first ray on one or more of the autopods |
| HP:0000612 | Iris coloboma | MP:0005262 | coloboma | anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation |
| HP:0008736 | Hypoplasia of penis | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0005978 | Type II diabetes mellitus | MP:0004803 | increased susceptibility to autoimmune diabetes | greater likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas |
| HP:0002612 | Congenital hepatic fibrosis | MP:0009501 | abnormal hepatic duct morphology | any structural anomaly of the two canals (left and right) that collect and drain bile from the left and right half of the liver from the biliary ductules and join external to the liver to form the common hepatic duct |
Mapped by homologous gene(Total Items:23) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0100627 | Displacement of the external urethral meatus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001161 | Hand polydactyly | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0000486 | Strabismus | 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: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:0000407 | Sensorineural hearing impairment | 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:0000518 | Cataract | 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:0000028 | Cryptorchidism | 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:0000248 | Brachycephaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0009896 | Abnormality of the antitragus | MP:0011098 | embryonic lethality during organogenesis, complete penetrance | death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0005978 | Type II diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0006101 | Finger syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000612 | Iris coloboma | MP:0013791 | absent external nares | absence or failure to form both of the anterior openings to the nasal cavity |
| HP:0001513 | Obesity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000083 | Renal insufficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| 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:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0000286 | Epicanthus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000639 | Nystagmus | 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:0000368 | Low-set, posteriorly rotated ears | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008736 | Hypoplasia of penis | 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:0002612 | Congenital hepatic fibrosis | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| Disease ID | 517 |
|---|---|
| Disease | laurence-moon syndrome |
| Case | (Waiting for update.) |