MCID: DWR001
MIFTS: 55

Dwarfism malady

Rare diseases category
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Summaries for Dwarfism

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NIH Rare Diseases:42 Dwarfism is a condition that is characterized by short stature, usually resulting in an adult height of 4'10" or shorter. dwarfism can and most often does occur in families where both parents are of average height. it can be caused by any one of more than 300 conditions, most of which are genetic. the most common type, accounting for 70% of all cases of short stature, is called achondroplasia. other genetic conditions, kidney disease and problems with metabolism or hormones can also cause short stature. dwarfism itself is not a disease; however, there is a greater risk of some health problems. with proper medical care, most people with dwarfism have active lives and a normal life expectancy. last updated: 5/19/2011

MalaCards based summary: Dwarfism is related to gigantism and hypochondroplasia. An important gene associated with Dwarfism is RNU4ATAC (RNA, U4atac small nuclear (U12-dependent splicing)), and among its related pathways are Endochondral Ossification and G-Beta Gamma Signaling. The drugs growth hormone and somatrem and the compounds pyridostigmine and pegvisomant have been mentioned in the context of this disorder. Affiliated tissues include pituitary, kidney and bone, and related mouse phenotypes are endocrine/exocrine gland and reproductive system.

MedlinePlus:33 A dwarf is a person of short stature - under 4' 10" as an adult. more than 200 different conditions can cause dwarfism. a single type, called achondroplasia, causes about 70 percent of all dwarfism. achondroplasia is a genetic condition that affects about 1 in 15,000 to 1 in 40,000 people. it makes your arms and legs short in comparison to your head and trunk. other genetic conditions, kidney disease and problems with metabolism or hormones can also cause short stature. dwarfism itself is not a disease. however, there is a greater risk of some health problems. with proper medical care, most people with dwarfism have active lives and live as long as other people.

Wikipedia:65 Dwarfism /?dw??f?s?m/ occurs when an individual person or animal is short in stature resulting from a... more...

Aliases & Classifications for Dwarfism

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Dwarfism, Aliases & Descriptions:

Name: Dwarfism 65 42 22 44 33 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Related Diseases for Dwarfism

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Diseases in the Dwarfism family:

Abuse Dwarfism Syndrome

Diseases related to Dwarfism via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 945)
idRelated DiseaseScoreTop Affiliating Genes
1gigantism30.6GH1
2hypochondroplasia30.4SHOX, FGFR3
3isolated growth hormone deficiency30.3POU1F1, GH1
4turner syndrome30.2SHOX
5isolated growth hormone deficiency type 1b30.1GHRHR, GH1
6acromegaly30.1GH1, GHRHR, GHRH
7septo-optic dysplasia29.9GH1, POU1F1
8hypogonadism29.8POU1F1, GH1
9anorexia nervosa29.7GHRH, GH1
10growth hormone deficiency29.7GHRHR, GH1, GHRH, POU1F1
11hypothyroidism29.7GH1, GHRHR, GHRH, POU1F1
12pituitary hypoplasia29.7GHRHR, POU1F1, GHRH
13hypopituitarism29.6GH1, POU1F1, GHRH
14acth deficiency29.6POU1F1, GH1
15short stature28.8SHOX, POU1F1, FGFR3, GH1, GHRHR, GHRH
16microcephalic osteodysplastic primordial dwarfism type 210.5
17microcephalic osteodysplastic primordial dwarfism type 110.4
18seckel syndrome10.4
19achondroplasia10.4
20lenz majewski hyperostotic dwarfism10.3
21parastremmatic dwarfism10.3
22alopecia contractures dwarfism mental retardation10.2
23bird headed dwarfism montreal type10.2
24laron syndrome10.2
25abuse dwarfism syndrome10.2
26ichthyosis mental retardation dwarfism renal impairment10.2
27microcephalic primordial dwarfism toriello type10.2
28mental retardation10.2
29wermer syndrome10.2GHRH, GHRHR
30vipoma10.2GH1, GHRH
31keratosis follicularis dwarfism and cerebral atrophy10.2
32glucagonoma10.2GHRH, GH1
33adrenal gland hyperfunction10.2GH1, GHRH
34hyperprolactinemia10.2GHRH, GH1
35cartilage-hair hypoplasia10.2
36mulibrey nanism10.2
37thyroiditis10.2
38brachydactylous dwarfism mseleni type10.2
39syndesmodysplasic dwarfism10.2
40kniest dysplasia10.1
41thanatophoric dysplasia type 210.1
42alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus10.1
43bowing of legs, anterior with dwarfism10.1
44chondrodysplasia10.1
45dwarfism tall vertebrae10.1
46mesomelic dwarfism cleft palate camptodactyly10.1
47metatropic dysplasia10.1
48robinow syndrome10.1
49thanatophoric dysplasia type 110.1
50cushing's syndrome10.1GHRH, GH1

Graphical network of the top 20 diseases related to Dwarfism:



Diseases related to dwarfism

Symptoms for Dwarfism

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Drugs & Therapeutics for Dwarfism

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Drug clinical trials:

Search ClinicalTrials for Dwarfism

Search NIH Clinical Center for Dwarfism

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Dwarfism

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Genetic tests related to Dwarfism:

id Genetic test Affiliating Genes
1 Dwarfism22

Anatomical Context for Dwarfism

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MalaCards organs/tissues related to Dwarfism:

32
Pituitary, Kidney, Bone, Thyroid, Brain, Skin, Skeletal muscle, Liver, Pancreas, Testes, Eye, Cortex, Adrenal cortex

Animal Models for Dwarfism or affiliated genes

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MGI Mouse Phenotypes related to Dwarfism:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.3GH1, GHRHR, GHRH, POU1F1
2MP:00053897.6POU1F1, GHRH, GHRHR, GH1, FGFR3
3MP:00036317.5FGFR3, PCNT, GH1, GHRHR, GHRH, POU1F1
4MP:00053787.4POU1F1, GHRH, GHRHR, GH1, PCNT, FGFR3

Publications for Dwarfism

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Articles related to Dwarfism:

(show top 50)    (show all 593)
idTitleAuthorsYear
1
Genomic analysis of primordial dwarfism reveals novel disease genes. (24389050)
2014
2
Deletion in the EVC2 gene causes chondrodysplastic dwarfism in Tyrolean Grey cattle. (24733244)
2014
3
Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): A potential role of pericentrin in hematopoiesis. (24106199)
2014
4
Fracture healing of an osteodysplastic femur in a microcephalic osteodysplastic primordial dwarfism II (MOPD II) patient: a case report. (22773355)
2013
5
Suppression of I^-aminobutyric acid (GABA) transaminases induces prominent GABA accumulation, dwarfism and infertility in the tomato (Solanum lycopersicum L.). (23435575)
2013
6
Cultural stereotypes and personal beliefs about individuals with dwarfism. (23421007)
2013
7
Influence of the social context on use of surgical-lengthening and group-empowering coping strategies among people with dwarfism. (22946610)
2012
8
Dwarfism in mice lacking collagen-binding integrins I+2I^1 and I+11I^1 is caused by severely diminished IGF-1 levels. (22210772)
2012
9
Phenotypic characterization of the Komeda miniature rat Ishikawa, an animal model of dwarfism caused by a mutation in Prkg2. (19149413)
2008
10
Short-limbed dwarfism: slw is a new allele of Npr2 causing chondrodysplasia. (17728275)
2007
11
Mutation in cGMP-dependent protein kinase II causes dwarfism in a rat mutant KMI through uncoupling of proliferation and differentiation of chondrocytes. (15838621)
2005
12
A loss-of-function mutation in natriuretic peptide receptor 2 (Npr2) gene is responsible for disproportionate dwarfism in cn/cn mouse. (15722353)
2005
13
Fibroblast growth factor receptor-3 as a therapeutic target for Achondroplasia--genetic short limbed dwarfism. (12816345)
2003
14
Latrunculin B-induced plant dwarfism: Plant cell elongation is F-actin-dependent. (11180956)
2001
15
Differentiation of achondroplasia and other similar genetic dwarfism by FGFR3 gene analysis]. (10932008)
2000
16
Cervical spine instability and dwarfism: fiberoptic intubations for all. (10443630)
1999
17
A lethal, unclassifiable form of micromelic dwarfism with posterior cleft palate, multiple cervicothoracal vertebral anomalies and iliac hypoplasia: evidence for autosomal recessive inheritance. (9555592)
1998
18
Dwarfism and age-associated spinal degeneration of heterozygote cmd mice defective in aggrecan. (9192671)
1997
19
Pituitary dwarfism in the R271W Pit-1 gene mutation. (9392392)
1997
20
Acromesomelic dwarfism: a new variation. (9039664)
1997
21
Dwarfism in Dexter cattle is not caused by the mutations in FGFR3 responsible for achondroplasia in humans. (9124710)
1997
22
Case report: neonatal platyspondylic dwarfism--a new form. (8542237)
1995
23
Thanatophoric dwarfism. (8132266)
1993
24
Laron dwarfism in the Arabian Gulf: a report of a sibship. (7505559)
1993
25
Cephalo-skeletal dysplasia and microcephalic osteodysplastic primordial dwarfism. (1437384)
1992
26
Caroline Crachami and the delineation of osteodysplastic primordial dwarfism type III, and autosomal recessive syndrome. (1456293)
1992
27
Seckel syndrome: report of three sibships with the type I primordial dwarfism. Possible linkage with HLA locus. (1296517)
1992
28
Microcephalic osteodysplastic primordial dwarfism and cephalo-skeletal dysplasia (Taybi-Linder syndrome) (1605263)
1992
29
Familial synovial chondromatosis combined with dwarfism. (1733839)
1992
30
Radial ray defects, triangular face, telecanthus, sparse hair, dwarfism, and mental retardation. (1785626)
1991
31
Acrodysgenital dwarfism or Smith-Lemli-Opitz type II syndrome. (1773544)
1991
32
Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance. (2282715)
1990
33
Early prenatal ultrasonic diagnosis of thanatophoric dwarfism. (2199406)
1990
34
Glycine to serine substitution in the triple helical domain of pro- alpha 1 (II) collagen results in a lethal perinatal form of short- limbed dwarfism. (2572591)
1989
35
A child with phenotypic Laron dwarfism and normal somatomedin levels. (2913494)
1989
36
New type of autosomal recessive short-limb dwarfism with absent fibulae, exceptionally short digits, and normal intelligence. (2624264)
1989
37
Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III. (2764032)
1989
38
Cervical kyphosis in diastrophic dwarfism: CT and MR findings. (3601466)
1987
39
Becker and limb-girdle muscular dystrophy associated with pituitary dwarfism. (3655848)
1987
40
The 3-M syndrome. A heritable low birthweight dwarfism. (3692880)
1987
41
Thanatophoric dwarfism: three case reports. (3321459)
1987
42
Lethal short-limbed dwarfism in a rhesus monkey. (3962086)
1986
43
Pituitary dwarfism in a patient with circulating abnormal growth hormone polymers. (3965948)
1985
44
Camptomelic dwarfism associated with XY-gonadal dysgenesis and chromosome anomalies. (566645)
1978
45
Fatal neonatal dwarfism: examples of thanatophoric dwarfism and of hypophosphatasia. (4618133)
1974
46
Parastremmatic dwarfism. (4791787)
1973
47
Septo-optic dysplasia and pituitary dwarfism. (4191531)
1970
48
Diagnostic procedures in hypopituitary dwarfism. II. Evaluation of ACTH deficiency: metopirone test, the daily oscillation of plasma cortisol and its response to exogenous ACTH, lysin-vasopressin, insulin-induced hypoglycemia and general anesthesia. (4322183)
1970
49
Congenital lipomatosis of the pancreas. Malabsorption, dwarfism, leukopenia with relative granulocytopenia and thrombocytopenia. (5665293)
1968
50
DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA. (14284412)
1965

Variations for Dwarfism

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Expression for genes affiliated with Dwarfism

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Expression patterns in normal tissues for genes affiliated with Dwarfism

Search GEO for disease gene expression data for Dwarfism.

Pathways for genes affiliated with Dwarfism

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Compounds for genes affiliated with Dwarfism

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Compounds related to Dwarfism according to GeneCards/GeneDecks:

(show all 41)
idCompoundScoreTop Affiliating Genes
1pyridostigmine44 1110.9GH1, GHRH
2pegvisomant44 1110.9GHRH, GH1
3acipimox44 2810.9GH1, GHRH
4lanreotide44 2810.9GH1, GHRH
5pirenzepine44 28 1111.9GH1, GHRH
6naltrexone44 28 50 1112.9GH1, GHRH
7sumatriptan44 28 61 50 24 1114.9GH1, GHRH
8salbutamol44 50 28 24 1113.9GHRH, GH1
9naloxone44 28 50 1112.8GH1, GHRH
10clonidine44 50 28 1112.8GH1, GHRH
11octreotide44 61 28 1112.7GH1, GHRH
12atropine44 28 1111.7GHRH, GH1
13opiate449.7GH1, GHRH
14ghrp449.6GH1, GHRHR, GHRH
15hexarelin44 2810.6GHRH, GHRHR, GH1
16lysine449.5GHRH, GHRHR, FGFR3
17triiodothyronine449.4GH1, GHRH
18propranolol44 28 50 24 1113.4GHRH, GH1, CANT1
19norepinephrine44 24 1111.3CANT1, GH1, GHRH
20aspartate449.3GHRH, GH1, PCNT
21levodopa44 1110.2GHRH, GH1
22bromocriptine44 28 1111.1GH1, GHRH, POU1F1
23acth449.1GH1, GHRH, POU1F1
24vitamin d449.1GH1, GHRH, POU1F1
25adenylate449.1GHRH, GHRHR, GH1, CANT1
26glucose448.9GHRH, GHRHR, GH1, CANT1
27dopamine44 28 24 1111.9GH1, GHRH, POU1F1
28cysteine448.9FGFR3, CANT1, GH1, GHRHR
29glutamine448.8CANT1, GH1, POU1F1
30glutamate448.8POU1F1, GHRH, GHRHR, FGFR3
31ribonucleic acid448.8GH1, GHRHR, GHRH, POU1F1
32leucine448.8POU1F1, GHRHR, GH1
33forskolin44 50 1110.8GH1, GHRHR, GHRH, POU1F1
34cyclic amp44 249.7CANT1, GHRHR, GHRH, POU1F1
35progesterone44 28 61 24 1112.7GH1, GHRH, POU1F1
36oligonucleotide448.5POU1F1, GH1, CANT1, FGFR3
37steroid448.5SHOX, POU1F1, GHRH, GH1
38estrogen448.4SHOX, POU1F1, GHRH, GH1
39dexamethasone44 50 28 1111.3POU1F1, GHRH, GHRHR, GH1, FGFR3
40calcium44 50 24 1111.2POU1F1, GHRH, GHRHR, CANT1, FGFR3
41arginine447.8POU1F1, GHRH, GHRHR, GH1, CANT1, FGFR3

GO Terms for genes affiliated with Dwarfism

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Biological processes related to Dwarfism according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of growth hormone secretionGO:0601249.9GHRH, GHRHR
2growth hormone secretionGO:0302529.8GHRH, GHRHR
3cAMP-mediated signalingGO:0199339.8GHRHR, GHRH
4bone maturationGO:0709779.7GH1, FGFR3
5adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:0071899.7GHRHR, GHRH
6somatotropin secreting cell developmentGO:0601339.5POU1F1, GHRHR
7positive regulation of tyrosine phosphorylation of Stat3 proteinGO:0425179.5GH1, FGFR3
8positive regulation of insulin-like growth factor receptor signaling pathwayGO:0435689.4GH1, GHRHR, GHRH
9JAK-STAT cascadeGO:0072599.4GH1, FGFR3
10positive regulation of cAMP biosynthetic processGO:0308199.4GHRHR, GHRH
11determination of adult lifespanGO:0083409.4GHRHR, POU1F1
12positive regulation of multicellular organism growthGO:0400188.6GH1, GHRHR, GHRH, POU1F1
13positive regulation of cell proliferationGO:0082848.6FGFR3, GHRHR, GHRH, POU1F1

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Sources for Dwarfism

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