MCID: DWR001
MIFTS: 58

Dwarfism malady

Summaries for Dwarfism

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42NIH Rare Diseases, 33MedlinePlus, 63Wikipedia, 32MalaCards
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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: 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 pituitary, kidney and bone, and related mouse phenotypes are limbs/digits/tail 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:63 Dwarfism /ˈdwɔrfɪzəm/ occurs when an individual person or animal is short in stature resulting from... more...

Aliases & Classifications for Dwarfism

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63Wikipedia, 42NIH Rare Diseases, 22GTR, 44Novoseek, 33MedlinePlus, 60UMLS
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Aliases & Descriptions:

dwarfism 63 42 22 44 33 60


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 963)
idRelated DiseaseScoreTop Affiliating Genes
1achondroplasia30.4COMP, COL2A1, NPPC, FGFR3, F2RL2
2laron syndrome30.2GHR, GH1
3hypochondroplasia30.1SHOX, FGFR3
4hypothyroidism30.0GHRHR, GHR, GHRH, GH1, PROP1, POU1F1
5diastrophic dysplasia30.0COMP, COL2A1, CANT1
6langer mesomelic dysplasia30.0SHOX
7isolated growth hormone deficiency30.0GH1, POU1F1
8thanatophoric dysplasia30.0FGFR3, COMP
9acromegaly29.9GH1, GHRH, GHR, GHRHR
10pituitary hypoplasia29.8POU1F1, PROP1, GHRH, GHRHR
11brachydactyly29.8FGFR3, COL2A1, COMP
12hypogonadism29.8GH1, PROP1, POU1F1
13x-linked spondyloepiphyseal dysplasia tarda29.8COL2A1, FGFR3
14acromesomelic dysplasia29.8NPPC
15hypopituitarism29.7GHR, GHRH, GH1, PROP1, POU1F1
16turner syndrome29.7GHR, SHOX
17osteogenesis imperfecta29.4FGFR3, COL2A1
18septo-optic dysplasia29.4POU1F1, PROP1, GH1
19isolated growth hormone deficiency type 1b29.4GHRHR, GH1
20prader-willi syndrome29.4GH1
21noonan syndrome29.4GHR
22hypoglycemia29.4GH1, GHRH, GHR
23microcephalic osteodysplastic primordial dwarfism type 210.4
24seckel syndrome10.3
25microcephalic osteodysplastic primordial dwarfism type 110.3
26ichthyosis mental retardation dwarfism renal impairment10.2
27lenz majewski hyperostotic dwarfism10.2
28parastremmatic dwarfism10.2
29bird headed dwarfism montreal type10.1
30microcephalic primordial dwarfism toriello type10.1
31alopecia contractures dwarfism mental retardation10.1
32keratosis follicularis dwarfism and cerebral atrophy10.1
33cartilage-hair hypoplasia10.1
34kniest dysplasia10.1
35thyroiditis10.1
36abuse dwarfism syndrome10.1
37brachydactylous dwarfism mseleni type10.1
38mulibrey nanism10.1
39bowing of legs, anterior with dwarfism10.1
40mesomelic dwarfism cleft palate camptodactyly10.1
41metatropic dysplasia10.1
42otospondylomegaepiphyseal dysplasia10.0
43achondrogenesis10.0
44thanatophoric dysplasia type 210.0
453-m syndrome10.0
46alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus10.0
47syndesmodysplasic dwarfism10.0
48thanatophoric dysplasia type 110.0
49silver-russell syndrome10.0
50spondyloepiphyseal dysplasia congenita10.0

Graphical network of the top 20 diseases related to Dwarfism:



Diseases related to dwarfism

Clinical Features for Dwarfism

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Drugs & Therapeutics for Dwarfism

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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 UMLS60/NDF-RT40:

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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32MalaCards
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MalaCards organs/tissues related to Dwarfism:

32
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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36MGI
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Publications for Dwarfism

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50PubMed
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Articles related to Dwarfism:

(show top 50)    (show all 575)
idTitleAuthorsYear
1
Suppression of I^-aminobutyric acid (GABA) transaminases induces prominent GABA accumulation, dwarfism and infertility in the tomato (Solanum lycopersicum L.). (23435575)
2013
2
Cultural stereotypes and personal beliefs about individuals with dwarfism. (23421007)
2013
3
The parallel evolution of dwarfism in Arctic charr is accompanied by adaptive divergence in mTOR-pathway gene expression. (21714822)
2011
4
Dwarfism associated with chondrodysplasia in a red deer (Cervus elaphus). (22016513)
2011
5
Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III. (20857301)
2011
6
Shoulder arthroplasty in patients with dwarfism: a report of 2 cases. (21602066)
2011
7
The simultaneous repression of CCR and CAD, two enzymes of the lignin biosynthetic pathway, results in sterility and dwarfism in Arabidopsis thaliana. (20829305)
2011
8
Neurologic aspects of microcephalic osteodysplastic primordial dwarfism type II. (18486828)
2008
9
A novel dwarfism with gonadal dysfunction due to loss-of-function allele of the collagen receptor gene, Ddr2, in the mouse. (18483174)
2008
10
Anaesthesia for Caesarean section in a patient with diastrophic dwarfism. (17270421)
2007
11
Dwarfism in the ancient Mediterranean world. (16906555)
2006
12
Mutation in cGMP-dependent protein kinase II causes dwarfism in a rat mutant KMI through uncoupling of proliferation and differentiation of chondrocytes. (15838621)
2005
13
Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: confirmation of a new syndrome. (15372530)
2004
14
Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene. (14569125)
2003
15
Disruption of the D2 dopamine receptor alters GH and IGF-I secretion and causes dwarfism in male mice. (11897683)
2002
16
Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III. (10951479)
2000
17
Osteodysplastic primordial dwarfism type II with normal intellect but delayed central nervous system myelination. (9800906)
1998
18
Transient dwarfism and hypogonadism in mice lacking Otx1 reveal prepubescent stage-specific control of pituitary levels of GH, FSH and LH. (9477321)
1998
19
Anterior pituitary hypoplasia and dwarfism in mice lacking the dopamine transporter. (9247269)
1997
20
Growth hormone-releasing hormone (GHRH) receptor mutation and dwarfism: after the mouse, the human. (8766935)
1996
21
Langer mesomelic dwarfism: ultrasonographic diagnosis of two cases in early mid-trimester. (8710779)
1996
22
A new lethal neonatal short limb dwarfism. (8723566)
1996
23
Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. (7647778)
1995
24
Lethal forms of short limb dwarfism. (8935269)
1995
25
Reversibility of physiological growth hormone secretion in children with psychosocial dwarfism. (8013149)
1994
26
Genetic dwarfism with high growth hormone levels--multiple causation of GH nonresponsiveness. (8300391)
1993
27
Lack of hormone binding in COS-7 cells expressing a mutated growth hormone receptor found in Laron dwarfism. (8450064)
1993
28
Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II. (8358044)
1993
29
Growth hormone and insulin-like growth factor regulate insulin-like growth factor-binding protein-1 in Laron type dwarfism, growth hormone deficiency and constitutional short stature. (1280392)
1992
30
Combined human chorionic gonadotropin (HCG) and human menopausal gonadotropin (HMG) treatment in gonadotropin-deficient males with pituitary dwarfism. (1621528)
1992
31
Radial ray defects, triangular face, telecanthus, sparse hair, dwarfism, and mental retardation. (1785626)
1991
32
Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance. (2282715)
1990
33
Hereditary dwarfism. Recent advances in molecular genetics of the growth hormone receptor]. (2147483)
1990
34
Hypothalamic-pituitary dwarfism: comparison between MR imaging and CT findings. (2336284)
1990
35
The molecular biology of Laron dwarfism and medullary thyroid cancer. (2571085)
1989
36
Acromesomelic dwarfism: Maroteaux-Martinelli-Campailla type. (3240250)
1988
37
Mesomelic dwarfism: Campailla-Martinelli type. (3240249)
1988
38
Thanatophoric dwarfism: three case reports. (3321459)
1987
39
A new skeletal dysplasia syndrome with dwarfism, craniofacial anomalies, and unique radiographic findings. (2420178)
1986
40
Prenatal diagnosis of dwarfism by ultrasound screening. (3907507)
1985
41
A new syndrome of dwarfism, neonatal death, narrow chest, spondylometaphyseal abnormalities, and advanced bone age. (3993680)
1985
42
Constitutional hypoplastic anemia associated with familial "bird-headed" dwarfism (Seckel syndrome). (6465473)
1984
43
Boomerang dysplasia. A new form of neonatal death dwarfism. (6403439)
1983
44
Radiological findings in the hand in Seckel syndrome (bird-headed dwarfism). (6682547)
1983
45
Camptomelic dwarfism associated with XY-gonadal dysgenesis and chromosome anomalies. (566645)
1978
46
Pituitary function in a patient with septo-optic dysplasia and pituitary dwarfism (Kaplan-Grumbach-Hoyt syndrome). (679955)
1978
47
A new X-linked recessive disorder with dwarfism, cerebral atrophy, and generalized keratosis follicularis. (4834251)
1974
48
Fractionation studies on plasma of normals and patients with Laron dwarfism and hypopituitary gigantism. (4762432)
1973
49
Ichthyosis linearis circumflexa and Netherton's syndrome with idiopathic dwarfism. (4800202)
1973
50
Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia. (5809843)
1969

Genetic Variations for Dwarfism

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Expression for genes affiliated with Dwarfism

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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

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53Reactome, 29KEGG, 51QIAGEN, 37NCBI BioSystems Database
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Compounds for genes affiliated with Dwarfism

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44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Dwarfism according to GeneCards/GeneDecks:

(show top 50)    (show all 52)
idCompoundScoreTop Affiliating Genes
1ghrp4410.9GHRHR, GHR, GHRH, GH1
2hexarelin44 2811.9GHRHR, GHR, GHRH, GH1
3procollagen4410.9COL2A1
4pegvisomant44 1111.8GH1, GHRH, GHR
5bromocriptine28 44 1112.8GHR, GHRH, GH1, POU1F1
6lanreotide44 2811.8GHR, GHRH, GH1
7dopamine44 28 11 2413.8GHRH, GHR
8acth4410.8NPPC, GHR, GHRH, GH1, PROP1, POU1F1
9clonidine44 28 1112.8GHR, GHRH, GH1
10ribonucleic acid4410.8POU1F1, GH1, GHRH, GHR, GHRHR
11forskolin44 49 1112.8NPR2, NPPC, GHRHR, GHRH, GH1, POU1F1
12pyridinoline4410.8COMP, COL2A1, GH1
13vitamin d4410.8COMP, COL2A1, GHR, GHRH, GH1, POU1F1
14arginine4410.8COL2A1, CANT1, GHRHR, GHR, GHRH, GH1
15cgmp44 2811.8GHRH, NPPC, NPR2, CANT1
16octreotide44 59 28 1113.8GH1, GHRH, GHR
17aspartate4410.8COMP, COL2A1, GHR, GHRH, GH1, PCNT
18gnrh4410.8GHR, GHRH, GH1, PROP1
19steroid4410.8COMP, STC1, GHR, GHRH, GH1, PROP1
20oligonucleotide4410.8COMP, COL2A1, CANT1, GHR, GH1, POU1F1
21cysteine4410.8COMP, COL2A1, CANT1, NPPC, GHRHR, GHR
22atropine44 28 1112.8GH1, GHRH, NPPC
23dexamethasone44 49 28 1113.8FGFR3, COL2A1, NPR2, NPPC, STC1, GHRHR
24nitric oxide44 11 2412.8COL2A1, CANT1, NPR2, NPPC, GHR, GHRH
25propranolol44 28 49 11 2414.8GH1, GHRH, CANT1
26creatinine4410.7COMP, NPPC, GHR
27glucose4410.7COMP, CANT1, NPPC, STC1, GHRHR, GHR
28estrogen4410.7SHOX
29glutamate4410.7GHRHR, GHR, GHRH, POU1F1, FGFR3, F2RL2
30alanine4410.7COL2A1, NPR2, GH1, TRPV4, POU1F1
31adenylate4410.7CANT1, NPPC, GHRHR, GHRH, GH1
32triiodothyronine4410.7GH1, GHRH, GHR
33cyclic amp44 2411.7CANT1, GHRHR, GHR, GHRH, POU1F1
34serine4410.7COL2A1, NPR2, NPPC, STC1, GHR, GHRH
35tyrosine4410.7CANT1, NPPC, GHR, GH1, TRPV4, POU1F1
36lipid4410.7COMP, COL2A1, NPPC, GHRH, GH1, FGFR3
37calcium44 49 11 2413.7COMP, COL2A1, CANT1, NPR2, NPPC, STC1
38pentosidine4410.7COL2A1, COMP
39levodopa44 1111.7GHR, GHRH, GH1
40progesterone44 59 28 11 2414.6STC1, GHR, GHRH, GH1, POU1F1
41retinoic acid44 2411.6COMP, COL2A1, NPPC, GHR, GH1, POU1F1
42pyridostigmine44 1111.6GH1, GHRH
43testosterone44 59 11 2413.6PROP1, GH1, GHRH, GHR, NPPC
44norepinephrine44 11 2412.6CANT1, NPPC, GHRH, GH1
45sodium nitroprusside4410.5NPR2, NPPC, GH1
46guanylate4410.5NPPC, NPR2, CANT1
47phorbol4410.4TRPV4, GHR, NPPC
48sulfate44 2411.4FGFR3, COL2A1, COMP
49acipimox44 2811.4GHRH, GH1
50leuprolide acetate4410.1GHR, GH1

GO Terms for genes affiliated with Dwarfism

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16Gene Ontology
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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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Sources for Dwarfism

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet