eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| stuve-wiedemann syndrome | ||||
| Disease ID | 1470 |
|---|---|
| Disease | stuve-wiedemann syndrome |
| Definition | Stuve-Wiedemann syndrome is rare skeletal disorder present at birth (congenital). It is characterized by short stature, bowing of the long bones of the arms and legs (campomelia), and fingers or toes that are permanently flexed (camptodactyly) outward away from the thumb (ulnar deviation). Affected infants may develop life-threatening complications such as episodes where there is a sudden rise in body temperature (hyperthermia) or respiratory distress. Stuve-Wiedemann syndrome is inherited as an autosomal recessive trait.Some researchers believe that Stuve-Wiedemann syndrome and Schwartz-Jampel syndrome (SJS) type II are the same disorder. SJS was previously believed to be the newborn (neonatal) form of SJS. However, the clinical and radiographic pictures of Stuve-Wiedemann and SJS type II are nearly identical leading many researchers to believe the two disorders are a single entity. Radiographic pictures are records of internal structures of the body made from the use of x-rays or gamma rays.In the past, Stuve-Wiedemann syndrome was thought to be a lethal condition in all cases. Today, there are reports in the literature describing patients who survive. - NORD Reference: NORD |
| Synonym | schwartz jampel syndrome neonatal schwartz jampel type 2 syndrome schwartz-jampel syndrome, neonatal schwartz-jampel syndrome, type 2 sjs2 stuve-wiedemann-schwartz-jampel type 2 syndrome stuve-wiedemann/schwartz-jampel type 2 syndrome stws |
| OMIM | |
| UMLS | C0796176 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1470 |
|---|---|
| Disease | stuve-wiedemann syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:55) HP:0007610 | Blotching pigmentation of the skin HP:0008824 | Small iliac bodies HP:0001611 | Hypernasal speech HP:0002089 | Hypoplastic lungs HP:0001181 | Adducted thumbs HP:0000321 | Square face HP:0002980 | Bowed femura HP:0003196 | Short nose HP:0000205 | Tightly closed lips HP:0000347 | Hypoplasia of mandible HP:0011800 | Midface, flat HP:0007759 | Cloudy cornea HP:0000682 | Enamel abnormality HP:0000470 | Decreased cervical height HP:0000954 | Simian creases HP:0000963 | Thin skin HP:0004322 | Stature below 3rd percentile HP:0005736 | Short tibia HP:0000369 | Low-set ears HP:0002092 | Pulmonary artery hypertension HP:0100865 | Broad ischia HP:0006380 | Contractures of knees HP:0002007 | Frontal protruberance HP:0009465 | Medially deviated fingers HP:0010298 | Smooth tongue HP:0003015 | Metaphyseal splaying HP:0011968 | Feeding difficulties HP:0005830 | Flexion contracture of toe HP:0001252 | Hypotonia HP:0002982 | Bowed tibia HP:0007328 | Decreased pain sensation HP:0012745 | Decreased height of palpebral fissure HP:0002650 | Scoliosis HP:0001609 | Hoarseness HP:0000939 | Osteoporosis HP:0006844 | Absent patellar reflexes HP:0004964 | Hypertrophy of the pulmonary artery wall HP:0002015 | Swallowing difficulty HP:0002486 | Myotonia HP:0000935 | Thickened cortices of long bones HP:0004684 | Talipes valgus HP:0000883 | Slender ribs HP:0012810 | Wide base of nose HP:0002987 | Elbow contracture HP:0002459 | Dysautonomia HP:0009803 | Hypoplastic/small phalanges of the hand HP:0001883 | Talipes HP:0000272 | Depressed malar region HP:0005089 | Abnormal metaphyseal trabeculation HP:0004980 | Rarefaction of the metaphyses HP:0002756 | Pathologic fracture HP:0001954 | Increased body temperature, episodic HP:0009185 | Contracture of the proximal interphalangeal joint of the 5th finger HP:0002104 | Absence of spontaneous respiration HP:0002093 | progressive respiratory failure |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1470 |
|---|---|
| Disease | stuve-wiedemann syndrome |
| Manually Symptom | (Waiting for update.) |
| 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:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121912501 | NA | 3977 | LIFR | umls:C0796176 | CLINVAR | NA | 0.481085767 | NA | LIFR | 5 | 38496478 | G | A |
| rs199775294 | NA | 3977 | LIFR | umls:C0796176 | CLINVAR | NA | 0.481085767 | NA | LIFR | 5 | 38490283 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:17) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0005736 | Short tibia | MP:0002764 | short tibia | reduced length of the medial and larger bone of the lower leg |
| HP:0007759 | Opacification of the corneal stroma | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| HP:0008824 | Hypoplastic iliac body | MP:0003961 | decreased lean body mass | reduced amount of the fat-free physical bulk or volume of the body including all its components except adipose (fat) tissue |
| HP:0009803 | Short phalanx of finger | 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:0000470 | Short neck | MP:0012720 | elongated neck | increased length of the neck |
| HP:0003196 | Short nose | MP:0002233 | abnormal nose morphology | any structural anomaly of the organ that is specialized for smell and is part of the respiratory system |
| HP:0009465 | Ulnar deviation of finger | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
| HP:0000935 | Thickened cortex of long bones | MP:0008156 | decreased diameter of tibia | reduced width of the cross-sectional distance that extends from one lateral edge of the tibia, through its center and to the opposite lateral edge |
| HP:0000883 | Thin ribs | MP:0004674 | thin ribs | a more slender appearance of the bones forming the bony wall of the chest |
| HP:0007328 | Impaired pain sensation | MP:0001970 | abnormal pain threshold | increased or decreased average level of perception of pain |
| 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:0005830 | Flexion contracture of toe | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
| HP:0002092 | Pulmonary hypertension | MP:0005258 | ocular hypertension | abnormal elevation of the intraocular pressure |
| HP:0002089 | Pulmonary hypoplasia | MP:0013193 | sebaceous gland hypoplasia | underdevelopment and decreased size of the sebum secreting glands of the hair shaft, usually due to a decrease in the number of cells |
| HP:0011800 | Hypoplasia of midface | 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:0000682 | Abnormality of dental enamel | 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 |
Mapped by homologous gene(Total Items:55) | ||||
|---|---|---|---|---|
| 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:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0005736 | Short tibia | MP:0013400 | abnormal endometrial gland development | aberrant formation or incomplete differentiation of the simple or branched tubular glands found in the mucus membrane of the uterus |
| HP:0001883 | Talipes | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009185 | Contracture of the proximal interphalangeal joint of the 5th finger | MP:0013901 | absent female preputial gland | absence of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attracti |
| HP:0001609 | Hoarse voice | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0009465 | Ulnar deviation of finger | MP:0013901 | absent female preputial gland | absence of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attracti |
| HP:0000205 | Pursed lips | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000321 | Square face | MP:0013767 | decreased palatal rugae number | reduced number of transverse folds (ridges) of the mucosa located on the anterior third part of the secondary (hard) palate of most mammalian species |
| HP:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002756 | Pathologic fracture | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003196 | Short nose | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0007759 | Opacification of the corneal stroma | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0000682 | Abnormality of dental enamel | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002980 | Femoral bowing | 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:0010298 | Smooth tongue | MP:0011104 | embryonic lethality before implantation, 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 fertilization and implantation (Mus: E0 to less than E4.5) |
| HP:0003015 | Flared metaphysis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002092 | Pulmonary hypertension | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100865 | Broad ischia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0011968 | Feeding difficulties | 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:0000939 | Osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0012810 | Wide nasal base | MP:0011104 | embryonic lethality before implantation, 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 fertilization and implantation (Mus: E0 to less than E4.5) |
| HP:0005830 | Flexion contracture of toe | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006380 | Knee flexion contracture | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002459 | Dysautonomia | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0004980 | Metaphyseal rarefaction | MP:0011104 | embryonic lethality before implantation, 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 fertilization and implantation (Mus: E0 to less than E4.5) |
| HP:0004964 | Pulmonary arterial medial hypertrophy | MP:0011104 | embryonic lethality before implantation, 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 fertilization and implantation (Mus: E0 to less than E4.5) |
| HP:0002104 | Apnea | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0000935 | Thickened cortex of long bones | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000883 | Thin ribs | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000963 | Thin skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0007610 | Blotching pigmentation of the skin | MP:0011104 | embryonic lethality before implantation, 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 fertilization and implantation (Mus: E0 to less than E4.5) |
| HP:0000470 | Short neck | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002987 | Elbow flexion contracture | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000954 | Single transverse palmar crease | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005089 | Abnormal metaphyseal trabeculation | MP:0011104 | embryonic lethality before implantation, 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 fertilization and implantation (Mus: E0 to less than E4.5) |
| HP:0001611 | Nasal speech | 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:0004684 | Talipes valgus | MP:0011104 | embryonic lethality before implantation, 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 fertilization and implantation (Mus: E0 to less than E4.5) |
| HP:0008824 | Hypoplastic iliac body | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002486 | Myotonia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006844 | Absent patellar reflexes | MP:0011104 | embryonic lethality before implantation, 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 fertilization and implantation (Mus: E0 to less than E4.5) |
| HP:0000272 | Malar flattening | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001181 | Adducted thumb | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0007328 | Impaired pain sensation | MP:0014124 | increased amylin secretion | greater than normal production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiet |
| HP:0012745 | Short palpebral fissure | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000369 | Low-set ears | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002089 | Pulmonary hypoplasia | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0011800 | Hypoplasia of midface | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002982 | Tibial bowing | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001954 | Episodic fever | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002007 | Frontal bossing | 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:0009803 | Short phalanx of finger | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 1470 |
|---|---|
| Disease | stuve-wiedemann syndrome |
| Case | (Waiting for update.) |