MCID: DWR001
MIFTS: 59

Dwarfism malady

Summaries for Dwarfism

Sources:
43NIH Rare Diseases, 34MedlinePlus, 64Wikipedia, 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 achondroplasia and laron syndrome. An important gene associated with Dwarfism is PCNT (pericentrin), and among its related pathways are Non-integrin membrane-ECM interactions and G-Beta Gamma Signaling. The drugs growth hormone and somatrem and the compounds ghrp and hexarelin have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and brain, and related mouse phenotypes are limbs/digits/tail 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:64 Dwarfism /ˈdwɔrfɪzəm/ occurs when an individual person or animal is short in stature resulting from... more...

Aliases & Classifications for Dwarfism

Sources:
64Wikipedia, 43NIH Rare Diseases, 22GTR, 45Novoseek, 34MedlinePlus, 61UMLS
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Aliases & Descriptions:

dwarfism 64 43 22 45 34 61


Related Diseases for Dwarfism

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Dwarfism family:

abuse dwarfism syndrome dwarfism familial with muscle spasms

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

(show top 50)    (show all 947)
idRelated DiseaseScoreTop Affiliating Genes
1achondroplasia30.4COL2A1, FGFR3, NPPC, F2RL2, COMP
2laron syndrome30.2GHR, GH1
3isolated growth hormone deficiency30.1POU1F1, GH1
4hypochondroplasia30.1SHOX, FGFR3
5growth hormone deficiency30.1GHRHR, GHRH, POU1F1, GHR, PROP1, GH1
6diastrophic dysplasia30.1COMP, COL2A1, CANT1
7langer mesomelic dysplasia30.0SHOX
8thanatophoric dysplasia30.0FGFR3, COMP
9gigantism29.9GH1
10acromegaly29.9GHR, GH1, GHRHR, GHRH
11pituitary hypoplasia29.8GHRHR, GHRH, PROP1, POU1F1
12brachydactyly29.8COMP, FGFR3, COL2A1
13septo-optic dysplasia29.8POU1F1, GH1, PROP1
14x-linked spondyloepiphyseal dysplasia tarda29.8COL2A1, FGFR3
15short stature29.8COMP, COL2A1, NPR2, GHRH, GH1, GHRHR
16acromesomelic dysplasia29.8NPPC
17turner syndrome29.7SHOX, GHR
18osteogenesis imperfecta29.5FGFR3, COL2A1
19acth deficiency29.5GH1, PROP1, POU1F1
20isolated growth hormone deficiency type 1b29.5GHRHR, GH1
21prader-willi syndrome29.5GH1
22noonan syndrome29.5GHR
23hypoglycemia29.5GHR, GHRH, GH1
24microcephalic osteodysplastic primordial dwarfism type 210.4
25microcephalic osteodysplastic primordial dwarfism type 110.3
26parastremmatic dwarfism10.3
27micro syndrome10.3
28lenz majewski hyperostotic dwarfism10.2
29ichthyosis mental retardation dwarfism renal impairment10.2
30n syndrome10.2
31short syndrome10.2
32alopecia contractures dwarfism mental retardation10.2
33bird headed dwarfism montreal type10.2
34microcephalic primordial dwarfism toriello type10.2
35abuse dwarfism syndrome10.1
36keratosis follicularis dwarfism and cerebral atrophy10.1
37mental retardation10.1
38cartilage-hair hypoplasia10.1
39kniest dysplasia10.1
40brachydactylous dwarfism mseleni type10.1
41mulibrey nanism10.1
42robinow syndrome10.1
43bowing of legs, anterior with dwarfism10.1
44mesomelic dwarfism cleft palate camptodactyly10.1
45metatropic dysplasia10.1
46langer mesomelic dwarfism10.1
47otospondylomegaepiphyseal dysplasia10.1
48achondrogenesis10.1
49thanatophoric dysplasia type 210.1
50alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus10.1

Graphical network of the top 20 diseases related to Dwarfism:



Diseases related to dwarfism

Clinical Features for Dwarfism

Drugs & Therapeutics for Dwarfism

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Dwarfism

Drug clinical trials:

Search ClinicalTrials for Dwarfism

Search NIH Clinical Center for Dwarfism

Search CenterWatch for Dwarfism

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Dwarfism

Sources:
22GTR
See all sources

Genetic tests related to Dwarfism:

id Genetic test Affiliating Genes
1 Dwarfism22

Anatomical Context for Dwarfism

Sources:
33MalaCards
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MalaCards organs/tissues related to Dwarfism:

33
Skin, Liver, Brain, Kidney, Cortex, Skeletal muscle, Small intestine, Pancreas, Thyroid, Adrenal gland, T cells, B lymphoblasts, B cells, Fetal brain, Fetal liver, Fetal thyroid, Adrenal cortex, Pituitary

Animal Models for Dwarfism or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Dwarfism

Sources:
51PubMed
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Articles related to Dwarfism:

(show top 50)    (show all 576)
idTitleAuthorsYear
1
Genomic analysis of primordial dwarfism reveals novel disease genes. (24389050)
2014
2
Dwarfism and increased adiposity in the gh1 mutant zebrafish vizzini. (23456361)
2013
3
Extreme insular dwarfism evolved in a mammoth. (22572206)
2012
4
Improving mobility in a client with hypochondroplasia (dwarfism): a case report. (20226364)
2010
5
Phenotypic diagnosis of dwarfism in six Friesian horses. (18267883)
2008
6
. . . About dwarfism. (18580670)
2008
7
Sustained phosphorylation of mutated FGFR3 is a crucial feature of genetic dwarfism and induces apoptosis in the ATDC5 chondrogenic cell line via PLCgamma-activated STAT1. (17561467)
2007
8
Conditional expression of Wnt4 during chondrogenesis leads to dwarfism in mice. (17505543)
2007
9
Neutral sphingomyelinase (SMPD3) deficiency causes a novel form of chondrodysplasia and dwarfism that is rescued by Col2A1-driven smpd3 transgene expression. (17591962)
2007
10
Hypothalamic 3',5'-cyclic adenosine monophosphate response element-binding protein loss causes anterior pituitary hypoplasia and dwarfism in mice. (16141355)
2006
11
Ghrelin-stimulation test in the diagnosis of canine pituitary dwarfism. (16271735)
2006
12
SHOX mutations in a family and a fetus with Langer mesomelic dwarfism. (15214013)
2004
13
Fibroblast growth factor receptor-3 as a therapeutic target for Achondroplasia--genetic short limbed dwarfism. (12816345)
2003
14
A singular case of dwarfism with articular facets on tibio-fibular diaphysis, from the Longobard necropolis of the late-middle-ages at Cividale del Friuli (Udine)--Italy. (15828204)
2000
15
Total knee arthroplasty in patients with inherited dwarfism--a report of five knee replacements in two patients with Morquio's disease type A and one with spondylo-epiphyseal dysplasia. (10738879)
2000
16
Dwarfism and dysregulated proliferation in mice overexpressing the MYC antagonist MAD1. (10616903)
1999
17
A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors. (9887329)
1999
18
Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review. (9800908)
1998
19
Moebius syndrome, pituitary dwarfism and hypoplastic optic disc. (9695311)
1998
20
Prenatal diagnosis of thanatophoric dwarfism in second trimester. A case report. (9987576)
1998
21
Dwarfism and age-associated spinal degeneration of heterozygote cmd mice defective in aggrecan. (9192671)
1997
22
Acromesomelic dwarfism: report of a family with two affected siblings. (9715561)
1997
23
Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism. (9069288)
1997
24
Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects. (8669445)
1996
25
Treatment of atrichia pubis in adolescent girls with pituitary dwarfism. (8636832)
1996
26
Micromelic dwarfism--humerus, femur, tibia type. Report of a case. (8255648)
1993
27
Seckel syndrome: report of three sibships with the type I primordial dwarfism. Possible linkage with HLA locus. (1296517)
1992
28
Thanatophoric dwarfism: A report of three cases. (17589139)
1992
29
Desbuquois syndrome presenting with severe neonatal dwarfism, spondylo-epiphyseal dysplasia and advanced carpal bone age. (1437369)
1992
30
Congenital joint laxity and dwarfism in a beef research herd. (17423948)
1992
31
Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe "boomerang dysplasia"? (1466560)
1992
32
Laron-type dwarfism with apparently normal high affinity serum growth hormone-binding protein. (1934534)
1991
33
Biochemical and hormonal changes induced by one week of administration of rIGF-I to patients with Laron type dwarfism. (1934530)
1991
34
Thanatophoric dwarfism; drugs and antenatal diagnosis; a case report. (1995385)
1991
35
Early prenatal ultrasonic diagnosis of thanatophoric dwarfism. (2199406)
1990
36
Serum GH binding protein activities identifies the heterozygous carriers for Laron type dwarfism. (2800930)
1989
37
Laron-type dwarfism is associated with normal growth hormone and insulin-like growth factor I gene restriction patterns. (2567724)
1989
38
Metatropic dwarfism. (2630479)
1989
39
Posterior pituitary ectopia: an MR feature of pituitary dwarfism. (3132820)
1988
40
Dwarfism in Egypt and classical antiquity: iconography and medical history. (3063904)
1988
41
Growth hormone-deficient dwarfism in the rat: a new mutation. (3193048)
1988
42
Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome. (2831368)
1988
43
Cervical kyphosis in diastrophic dwarfism: CT and MR findings. (3601466)
1987
44
A family case with autosomal-dominantly inherited pituitary dwarfism. (3660403)
1987
45
Absence of serum growth hormone binding protein in patients with growth hormone receptor deficiency (Laron dwarfism). (3474620)
1987
46
Hereditary polydactylic dwarfism syndrome. (3109840)
1987
47
Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism. (6773018)
1980
48
Letter: Enlarged epiphyses: megepiphyseal dwarfism or homocystinuria? (4852777)
1974
49
Taurodontism, diminished root formation, and microcephalic dwarfism. (4515755)
1973
50
Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia. (4340235)
1972

Genetic Variations for Dwarfism

Expression for genes affiliated with Dwarfism

Sources:
1BioGPS, 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

Sources:
54Reactome, 30KEGG, 52QIAGEN, 38NCBI BioSystems Database
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Compounds for genes affiliated with Dwarfism

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB, 60Tocris Bioscience
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Compounds related to Dwarfism according to GeneCards/GeneDecks:

(show top 50)    (show all 52)
idCompoundScoreTop Affiliating Genes
1ghrp4510.9GHRH, GHR, GHRHR, GH1
2hexarelin45 2911.9GHRHR, GHR, GHRH, GH1
3procollagen4510.9COL2A1
4pegvisomant45 1111.8GHRH, GH1, GHR
5bromocriptine29 45 1112.8POU1F1, GH1, GHRH, GHR
6lanreotide45 2911.8GHR, GH1, GHRH
7dopamine45 29 11 2413.8GHRH, GHR
8acth4510.8NPPC, GHR, PROP1, GHRH, GH1, POU1F1
9clonidine45 29 1112.8GH1, GHR, GHRH
10ribonucleic acid4510.8POU1F1, GH1, GHRHR, GHRH, GHR
11forskolin45 50 1112.8GHRHR, POU1F1, NPR2, GH1, GHRH, NPPC
12pyridinoline4510.8GH1, COL2A1, COMP
13vitamin d4510.8COL2A1, COMP, GHR, GHRH, GH1, POU1F1
14arginine4510.8CANT1, GHR, GHRHR, GHRH, COL2A1, GH1
15cgmp45 2911.8GHRH, NPPC, NPR2, CANT1
16octreotide45 60 29 1113.8GH1, GHRH, GHR
17aspartate4510.8PCNT, GH1, GHRH, GHR, COL2A1, COMP
18gnrh4510.8GH1, PROP1, GHR, GHRH
19steroid4510.8POU1F1, SHOX, PROP1, GH1, GHRH, STC1
20oligonucleotide4510.8FGFR3, GH1, GHR, COL2A1, COMP, CANT1
21cysteine4510.8NPPC, COL2A1, GH1, GHR, CANT1, FGFR3
22atropine45 29 1112.8GH1, GHRH, NPPC
23dexamethasone45 50 29 1113.8GHRHR, FGFR3, GHRH, NPR2, GHR, STC1
24nitric oxide45 11 2412.8COL2A1, GHR, GHRH, TRPV4, SMPD3, NPR2
25propranolol45 29 50 11 2414.8CANT1, GHRH, GH1
26creatinine4510.7COMP, NPPC, GHR
27glucose4510.7GHR, F2RL2, GHRHR, STC1, GHRH, CANT1
28estrogen4510.7SHOX
29glutamate4510.7GHRHR, GHRH, POU1F1, FGFR3, GHR, F2RL2
30alanine4510.7COL2A1, GH1, TRPV4, POU1F1, NPR2
31adenylate4510.7GH1, GHRH, NPPC, CANT1, GHRHR
32triiodothyronine4510.7GHR, GH1, GHRH
33cyclic amp45 2411.7POU1F1, GHR, GHRHR, CANT1, GHRH
34serine4510.7GHRH, GHR, COL2A1, NPPC, STC1, GH1
35tyrosine4510.7TRPV4, FGFR3, NPPC, POU1F1, F2RL2, CANT1
36lipid4510.7NPPC, COMP, GHRH, GH1, FGFR3, SMPD3
37calcium45 50 11 2413.7COL2A1, COMP, GHRHR, TRPV4, STC1, NPPC
38pentosidine4510.7COL2A1, COMP
39levodopa45 1111.7GHR, GHRH, GH1
40progesterone45 60 29 11 2414.6POU1F1, STC1, GHR, GHRH, GH1
41retinoic acid45 2411.6GH1, POU1F1, GHR, COL2A1, COMP, NPPC
42pyridostigmine45 1111.6GHRH, GH1
43testosterone45 60 11 2413.6NPPC, GH1, GHR, GHRH, PROP1
44norepinephrine45 11 2412.6GH1, CANT1, NPPC, GHRH
45sodium nitroprusside4510.5NPR2, NPPC, GH1
46guanylate4510.5NPPC, CANT1, NPR2
47phorbol4510.4GHR, NPPC, TRPV4
48sulfate45 2411.4FGFR3, COL2A1, COMP
49leuprolide acetate4510.3GHR, GH1
50acipimox45 2911.2GHRH, GH1

GO Terms for genes affiliated with Dwarfism

Sources:
16Gene Ontology
See all sources

Cellular components related to Dwarfism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00557610.3COL2A1, NPPC, GHR, GHRH, GH1, FGFR3
2extracellular spaceGO:00561510.0GH1, COMP, COL2A1, NPPC, STC1, GHR

Biological processes related to Dwarfism according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of insulin-like growth factor receptor signaling pathwayGO:04356810.7GH1, GHRH, GHRHR
2JAK-STAT cascadeGO:00725910.7GHR, GH1, FGFR3
3positive regulation of multicellular organism growthGO:04001810.7POU1F1, GH1, GHRH, GHR, GHRHR
4bone maturationGO:07097710.7GH1, FGFR3
5positive regulation of tyrosine phosphorylation of Stat3 proteinGO:04251710.7FGFR3, GH1, GHR
6somatotropin secreting cell developmentGO:06013310.7GHRHR, POU1F1
7growth hormone receptor signaling pathwayGO:06039610.7GHR, GH1
8skeletal system developmentGO:00150110.6COMP, COL2A1, SHOX, FGFR3
9cartilage development involved in endochondral bone morphogenesisGO:06035110.6COL2A1, GHR
10positive regulation of growth hormone secretionGO:06012410.6GHRHR, GHRH
11growth hormone secretionGO:03025210.6GHRHR, GHRH
12ossificationGO:00150310.5NPR2, NPPC, STC1
13cGMP biosynthetic processGO:00618210.5NPPC, NPR2
14response to foodGO:03209410.5GHRH, GHR
15positive regulation of tyrosine phosphorylation of Stat5 proteinGO:04252310.4GH1, GHR
16receptor guanylyl cyclase signaling pathwayGO:00716810.3NPR2, NPPC
17determination of adult lifespanGO:00834010.2POU1F1, GHRHR

Molecular functions related to Dwarfism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:00517910.4GH1, STC1, NPPC
2peptide hormone bindingGO:01704610.1GHR, GHRHR, NPR2

Products for genes affiliated with Dwarfism

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  • Antibodies

Sources for Dwarfism

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet