MCID: DWR001
MIFTS: 54

Dwarfism malady

Rare diseases category
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Summaries for Dwarfism

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43NIH Rare Diseases, 34MedlinePlus, 65Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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: Dwarfism is related to isolated growth hormone deficiency 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:34 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?rf?z?m/ occurs when an individual person or animal is short in stature resulting from a... more...

Aliases & Classifications for Dwarfism

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65Wikipedia, 43NIH Rare Diseases, 22GTR, 45Novoseek, 34MedlinePlus, 62UMLS
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Classifications:

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


Aliases & Descriptions:

dwarfism 65 43 22 45 34 62


Related Diseases for Dwarfism

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17GeneCards, 18GeneDecks
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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 949)
idRelated DiseaseScoreTop Affiliating Genes
1isolated growth hormone deficiency30.2POU1F1, GH1
2hypochondroplasia30.2SHOX, FGFR3
3gigantism30.1GH1
4growth hormone deficiency30.0GHRHR, GH1, GHRH, POU1F1
5hypothyroidism30.0GH1, GHRHR, GHRH, POU1F1
6acromegaly30.0GH1, GHRHR, GHRH
7skeletal dysplasias29.9SHOX, FGFR3
8septo-optic dysplasia29.9GH1, POU1F1
9turner syndrome29.9SHOX
10hypogonadism29.9POU1F1, GH1
11pituitary hypoplasia29.7GHRHR, POU1F1, GHRH
12hypopituitarism29.7GH1, POU1F1, GHRH
13short stature29.6SHOX, POU1F1, FGFR3, GH1, GHRHR, GHRH
14isolated growth hormone deficiency type 1b29.6GHRHR, GH1
15anorexia nervosa29.6GHRH, GH1
16acth deficiency29.5POU1F1, GH1
17microcephalic osteodysplastic primordial dwarfism type 210.4
18microcephalic osteodysplastic primordial dwarfism type 110.4
19seckel syndrome10.4
20achondroplasia10.3
21parastremmatic dwarfism10.3
22lenz majewski hyperostotic dwarfism10.3
23alopecia contractures dwarfism mental retardation10.2
24bird headed dwarfism montreal type10.2
25ichthyosis mental retardation dwarfism renal impairment10.2
26microcephalic primordial dwarfism toriello type10.2
27keratosis follicularis dwarfism and cerebral atrophy10.2
28mental retardation10.2
29laron syndrome10.1
30thyroiditis10.1
31abuse dwarfism syndrome10.1
32brachydactylous dwarfism mseleni type10.1
33cartilage-hair hypoplasia10.1
34mulibrey nanism10.1
35bowing of legs, anterior with dwarfism10.1
36mesomelic dwarfism cleft palate camptodactyly10.1
37robinow syndrome10.1
38otospondylomegaepiphyseal dysplasia10.1
39kniest dysplasia10.1
40diastrophic dysplasia10.1
41achondrogenesis10.1
42thanatophoric dysplasia type 210.1
43alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus10.1
44chondrodysplasia10.1
45metatropic dysplasia10.1
46syndesmodysplasic dwarfism10.1
47thanatophoric dysplasia type 110.1
48growth retardation-mild developmental delay-chronic hepatitis syndrome10.0GH1, GHRH
49wermer syndrome10.0GHRH, GHRHR
50vipoma10.0GH1, GHRH

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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Dwarfism

Search NIH Clinical Center for Dwarfism

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Dwarfism

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22GTR
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Genetic tests related to Dwarfism:

id Genetic test Affiliating Genes
1 Dwarfism22

Anatomical Context for Dwarfism

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33MalaCards
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MalaCards organs/tissues related to Dwarfism:

33
Pituitary, Kidney, Bone, Thyroid, Brain, Skin, Testes, Pancreas, Liver, Skeletal muscle, Cortex, Adrenal cortex, Eye

Animal Models for Dwarfism or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Dwarfism:

37
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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52PubMed
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Articles related to Dwarfism:

(show top 50)    (show all 567)
idTitleAuthorsYear
1
Genomic analysis of primordial dwarfism reveals novel disease genes. (24389050)
2014
2
Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): A potential role of pericentrin in hematopoiesis. (24106199)
2014
3
Fracture healing of an osteodysplastic femur in a microcephalic osteodysplastic primordial dwarfism II (MOPD II) patient: a case report. (22773355)
2013
4
Suppression of I^-aminobutyric acid (GABA) transaminases induces prominent GABA accumulation, dwarfism and infertility in the tomato (Solanum lycopersicum L.). (23435575)
2013
5
Cultural stereotypes and personal beliefs about individuals with dwarfism. (23421007)
2013
6
Influence of the social context on use of surgical-lengthening and group-empowering coping strategies among people with dwarfism. (22946610)
2012
7
Dwarfism in mice lacking collagen-binding integrins I+2I^1 and I+11I^1 is caused by severely diminished IGF-1 levels. (22210772)
2012
8
Phenotypic characterization of the Komeda miniature rat Ishikawa, an animal model of dwarfism caused by a mutation in Prkg2. (19149413)
2008
9
Short-limbed dwarfism: slw is a new allele of Npr2 causing chondrodysplasia. (17728275)
2007
10
Mutation in cGMP-dependent protein kinase II causes dwarfism in a rat mutant KMI through uncoupling of proliferation and differentiation of chondrocytes. (15838621)
2005
11
A loss-of-function mutation in natriuretic peptide receptor 2 (Npr2) gene is responsible for disproportionate dwarfism in cn/cn mouse. (15722353)
2005
12
Fibroblast growth factor receptor-3 as a therapeutic target for Achondroplasia--genetic short limbed dwarfism. (12816345)
2003
13
Latrunculin B-induced plant dwarfism: Plant cell elongation is F-actin-dependent. (11180956)
2001
14
Differentiation of achondroplasia and other similar genetic dwarfism by FGFR3 gene analysis]. (10932008)
2000
15
Cervical spine instability and dwarfism: fiberoptic intubations for all. (10443630)
1999
16
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
17
Dwarfism and age-associated spinal degeneration of heterozygote cmd mice defective in aggrecan. (9192671)
1997
18
Pituitary dwarfism in the R271W Pit-1 gene mutation. (9392392)
1997
19
Acromesomelic dwarfism: a new variation. (9039664)
1997
20
Dwarfism in Dexter cattle is not caused by the mutations in FGFR3 responsible for achondroplasia in humans. (9124710)
1997
21
Case report: neonatal platyspondylic dwarfism--a new form. (8542237)
1995
22
Growth hormone receptor and dwarfism]. (7939185)
1994
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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2BioGPS, 15Gene Expression Omnibus DataSets
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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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50PathCards, 38NCBI BioSystems Database, 53QIAGEN
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Compounds for genes affiliated with Dwarfism

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45Novoseek, 11DrugBank, 29IUPHAR, 51PharmGKB, 61Tocris Bioscience, 24HMDB
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Compounds related to Dwarfism according to GeneCards/GeneDecks:

(show all 41)
idCompoundScoreTop Affiliating Genes
1pyridostigmine45 1110.9GH1, GHRH
2pegvisomant45 1110.9GHRH, GH1
3acipimox45 2910.9GH1, GHRH
4lanreotide45 2910.9GH1, GHRH
5pirenzepine45 29 1111.9GH1, GHRH
6naltrexone45 29 51 1112.9GH1, GHRH
7sumatriptan45 29 61 51 24 1114.9GH1, GHRH
8salbutamol45 51 29 24 1113.9GHRH, GH1
9naloxone45 29 51 1112.8GH1, GHRH
10clonidine45 51 29 1112.8GH1, GHRH
11octreotide45 61 29 1112.7GH1, GHRH
12atropine45 29 1111.7GHRH, GH1
13opiate459.7GH1, GHRH
14ghrp459.6GH1, GHRHR, GHRH
15hexarelin45 2910.6GHRH, GHRHR, GH1
16lysine459.5GHRH, GHRHR, FGFR3
17triiodothyronine459.4GH1, GHRH
18propranolol45 29 51 24 1113.4GHRH, GH1, CANT1
19norepinephrine45 24 1111.3CANT1, GH1, GHRH
20aspartate459.3GHRH, GH1, PCNT
21levodopa45 1110.2GHRH, GH1
22bromocriptine45 29 1111.1GH1, GHRH, POU1F1
23acth459.1GH1, GHRH, POU1F1
24vitamin d459.1GH1, GHRH, POU1F1
25adenylate459.1GHRH, GHRHR, GH1, CANT1
26glucose458.9GHRH, GHRHR, GH1, CANT1
27dopamine45 29 24 1111.9GH1, GHRH, POU1F1
28cysteine458.9FGFR3, CANT1, GH1, GHRHR
29glutamine458.8CANT1, GH1, POU1F1
30glutamate458.8POU1F1, GHRH, GHRHR, FGFR3
31ribonucleic acid458.8GH1, GHRHR, GHRH, POU1F1
32leucine458.8POU1F1, GHRHR, GH1
33forskolin45 51 1110.8GH1, GHRHR, GHRH, POU1F1
34cyclic amp45 249.7CANT1, GHRHR, GHRH, POU1F1
35progesterone45 29 61 24 1112.7GH1, GHRH, POU1F1
36oligonucleotide458.5POU1F1, GH1, CANT1, FGFR3
37steroid458.5SHOX, POU1F1, GHRH, GH1
38estrogen458.4SHOX, POU1F1, GHRH, GH1
39dexamethasone45 51 29 1111.3POU1F1, GHRH, GHRHR, GH1, FGFR3
40calcium45 51 24 1111.2POU1F1, GHRH, GHRHR, CANT1, FGFR3
41arginine457.8POU1F1, GHRH, GHRHR, GH1, CANT1, FGFR3

GO Terms for genes affiliated with Dwarfism

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16Gene Ontology
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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

Products for genes affiliated with Dwarfism

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Sources for Dwarfism

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet