eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| mandibuloacral dysplasia | ||||
| Disease ID | 555 |
|---|---|
| Disease | mandibuloacral dysplasia |
| Definition | A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk. |
| Synonym | craniomandibular dermatodysostosis familial mandibuloacral dysplasia lipodystrophy, type a, associated with mandibuloacral dysplasia mada mandibuloacral dysostosis mandibuloacral dysostosis (disorder) mandibuloacral dysplasia with type a lipodystrophy mandibuloacral dysplasia with type a lipodystrophy, atypical |
| Orphanet | |
| OMIM | |
| UMLS | C0432291 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 555 |
|---|---|
| Disease | mandibuloacral dysplasia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:34) HP:0000894 | Short clavicles HP:0000831 | Insulin-resistant diabetes mellitus HP:0030809 | Abnormal tongue morphology HP:0005781 | Contractures of the large joints HP:0000685 | Hypoplasia of teeth HP:0001000 | Abnormality of skin pigmentation HP:0003124 | Hypercholesterolemia HP:0000218 | High palate HP:0000678 | Dental crowding HP:0000460 | Narrow nose HP:0008897 | Postnatal growth retardation HP:0008993 | Increased intraabdominal fat HP:0009839 | Osteolytic defects of the distal phalanges of the hand HP:0011334 | Facial shape deformation HP:0000963 | Thin skin HP:0000347 | Micrognathia HP:0003635 | Loss of subcutaneous adipose tissue in limbs HP:0000855 | Insulin resistance HP:0030781 | Increased circulating free fatty acid level HP:0100578 | Lipoatrophy HP:0002155 | Hypertriglyceridemia HP:0000833 | Glucose intolerance HP:0000842 | Hyperinsulinemia HP:0000293 | Full cheeks HP:0000468 | Increased adipose tissue around the neck HP:0008070 | Sparse hair HP:0001596 | Alopecia HP:0001090 | Large eyes HP:0003809 | Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) HP:0009003 | Increased subcutaneous truncal adipose tissue HP:0001870 | Acroosteolysis of distal phalanges (feet) HP:0001804 | Hypoplastic fingernail HP:0000956 | Acanthosis nigricans HP:0000270 | Delayed cranial suture closure |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 555 |
|---|---|
| Disease | mandibuloacral dysplasia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| ZMPSTE24 | c.1085dupT | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:14) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121912494 | NA | 4000 | LMNA | umls:C0432291 | CLINVAR | NA | 0.485428837 | NA | LMNA | 1 | 156137209 | G | A |
| rs267607640 | NA | 4000 | LMNA | umls:C0432291 | CLINVAR | NA | 0.485428837 | NA | LMNA | 1 | 156137029 | G | A |
| rs28928902 | 18348272 | 4000 | LMNA | umls:C0432291 | BeFree | Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy. | 0.485428837 | 2008 | LMNA | 1 | 156136951 | C | G,T |
| rs483352811 | NA | 4000 | LMNA | umls:C0432291 | CLINVAR | NA | 0.485428837 | NA | LMNA | 1 | 156137665 | G | A |
| rs56673169 | NA | 4000 | LMNA | umls:C0432291 | CLINVAR | NA | 0.485428837 | NA | LMNA | 1 | 156137671 | G | C |
| rs57318642 | NA | 4000 | LMNA | umls:C0432291 | CLINVAR | NA | 0.485428837 | NA | LMNA | 1 | 156137203 | C | T |
| rs57520892 | 15473259 | 4000 | LMNA | umls:C0432291 | BeFree | Analysis of the effect of the prevalent MAD mutation (R527H) over the transcriptional pattern of genes expressed in the human dermis showed that this LMNA gene mutation has pleiotropic effects on a limited number of genes. | 0.485428837 | 2004 | LMNA | 1 | 156137204 | G | A,C |
| rs57520892 | 18604166 | 4000 | LMNA | umls:C0432291 | BeFree | Mandibuloacral dysplasia type A (MADA; OMIM | |||||||
| 248370) is a premature ageing disease caused by the homozygous R527H mutation in the LMNA gene. | 0.485428837 | 2008 | LMNA | 1 | 156137204 | G | A,C | ||||||
| rs57520892 | NA | 4000 | LMNA | umls:C0432291 | CLINVAR | NA | 0.485428837 | NA | LMNA | 1 | 156137204 | G | A,C |
| rs57629361 | NA | 4000 | LMNA | umls:C0432291 | CLINVAR | NA | 0.485428837 | NA | LMNA | 1 | 156137207 | C | A,G,T |
| rs58596362 | NA | 4000 | LMNA | umls:C0432291 | CLINVAR | NA | 0.485428837 | NA | LMNA | 1 | 156138613 | C | T |
| rs60580541 | NA | 4000 | LMNA | umls:C0432291 | CLINVAR | NA | 0.485428837 | NA | LMNA | 1 | 156137210 | C | T |
| rs60580541 | 15998779 | 4000 | LMNA | umls:C0432291 | BeFree | A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia. | 0.485428837 | 2005 | LMNA | 1 | 156137210 | C | T |
| rs60890628 | 16278265 | 4000 | LMNA | umls:C0432291 | BeFree | The S573L homozygous LMNA mutation is associated with a novel phenotype of arthropathy, tendinous calcifications, and progeroid features distinct from the acroosteolysis previously reported in patients with mandibuloacral dysplasia caused by LMNA or ZMPSTE24 mutations. | 0.485428837 | 2006 | LMNA | 1 | 156138507 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
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:0008897 | Postnatal growth retardation | MP:0011109 | lethality throughout fetal growth and development, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
| HP:0003635 | Loss of subcutaneous adipose tissue in limbs | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0000963 | Thin 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:0008070 | Sparse hair | MP:0010202 | focal dorsal hair loss | focal hair loss on the dorsal area of a rodent resulting in dorsal skin visible in a patch where hair loss occurs |
| HP:0000270 | Delayed cranial suture closure | MP:0010743 | delayed suture closure | late onset of the fusion of the bones of the skull |
| HP:0001870 | Acroosteolysis of distal phalanges (feet) | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0000218 | High palate | MP:0011615 | submucous cleft palate | a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate |
| HP:0009003 | Increased subcutaneous truncal adipose tissue | MP:0008853 | decreased abdominal adipose tissue amount | reduction in amount of adipose tissue associated with internal organs |
| HP:0000685 | Hypoplasia of teeth | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0000468 | Increased adipose tissue around the neck | MP:0008853 | decreased abdominal adipose tissue amount | reduction in amount of adipose tissue associated with internal organs |
| HP:0001000 | Abnormality of skin pigmentation | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0003809 | Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) | MP:0011100 | preweaning lethality, complete penetrance | death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0000855 | Insulin resistance | MP:0010935 | increased airway resistance | greater opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow |
| HP:0008993 | Increased intraabdominal fat | MP:0011168 | abnormal fat cell differentiation | abnormal or arrest of differentiation of fat-storing cells found mostly in the abdominal cavity and subcutaneous tissue of mammals |
| HP:0009839 | Osteolytic defects of the distal phalanges of the hand | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
Mapped by homologous gene(Total Items:30) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008897 | Postnatal growth retardation | 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:0000270 | Delayed cranial suture closure | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000347 | Micrognathia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001804 | Hypoplastic fingernail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000956 | Acanthosis nigricans | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000831 | Insulin-resistant diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000894 | Short clavicles | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001000 | Abnormality of skin pigmentation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000833 | Glucose intolerance | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000963 | Thin skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001090 | Large eyes | 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:0000855 | Insulin resistance | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0100578 | Lipoatrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009003 | Increased subcutaneous truncal adipose tissue | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002155 | Hypertriglyceridemia | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000460 | Narrow nose | MP:0020039 | increased bone ossification | increase 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:0008993 | Increased intraabdominal fat | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000218 | High palate | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0003635 | Loss of subcutaneous adipose tissue in limbs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003809 | Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0000842 | Hyperinsulinemia | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000678 | Dental crowding | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0008070 | Sparse hair | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0003124 | Hypercholesterolemia | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0000685 | Hypoplasia of teeth | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009839 | Osteolytic defects of the distal phalanges of the hand | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000468 | Increased adipose tissue around the neck | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000293 | Full cheeks | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001870 | Acroosteolysis of distal phalanges (feet) | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001596 | Alopecia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| Disease ID | 555 |
|---|---|
| Disease | mandibuloacral dysplasia |
| Case | (Waiting for update.) |