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, Skeletal muscle, Testes, Liver, Pancreas, Cortex, Eye, Adrenal cortex

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
Cranial vault remodeling in microcephalic osteodysplastic primordial dwarfism type II and craniosynostosis. (22948629)
2012
2
Persistent expression of Twist1 in chondrocytes causes growth plate abnormalities and dwarfism in mice. (21769775)
2011
3
A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder. (21990275)
2011
4
FGFR3 heterodimerization in achondroplasia, the most common form of human dwarfism. (21324899)
2011
5
Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype. (20358609)
2010
6
Multiple intracranial aneurysms and moyamoya disease associated with microcephalic osteodysplastic primordial dwarfism type II: surgical considerations. (19877776)
2009
7
A dominant mutation of TWISTED DWARF 1 encoding an alpha-tubulin protein causes severe dwarfism and right helical growth in rice. (19745569)
2009
8
Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis. (19277063)
2009
9
Phenotypic characterization of the Komeda miniature rat Ishikawa, an animal model of dwarfism caused by a mutation in Prkg2. (19149413)
2008
10
Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II. (18577061)
2008
11
Pseudoachondroplasia: A rare cause of rhizomelic dwarfism. (19753240)
2008
12
Short-limbed dwarfism: slw is a new allele of Npr2 causing chondrodysplasia. (17728275)
2007
13
Congenital hypothyroidism, dwarfism, and hearing impairment caused by a missense mutation in the mouse dual oxidase 2 gene, Duox2. (17440044)
2007
14
An active DNA transposon nDart causing leaf variegation and mutable dwarfism and its related elements in rice. (16367953)
2006
15
The leukemia inhibitory factor receptor gene is not involved in the etiology of pituitary dwarfism in German shepherd dogs. (16624355)
2006
16
Dwarfism and low insulin-like growth factor-1 due to dopamine depletion in Pts-/- mice rescued by feeding neurotransmitter precursors and H4-biopterin. (12734191)
2003
17
Use of proligestone in the management of three German shepherd dogs with pituitary dwarfism. (11996393)
2002
18
Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation. (11260213)
2001
19
A targeted dominant negative mutation of the thyroid hormone alpha 1 receptor causes increased mortality, infertility, and dwarfism in mice. (11734632)
2001
20
Differentiation of achondroplasia and other similar genetic dwarfism by FGFR3 gene analysis]. (10932008)
2000
21
Cephaloskeletal dysplasia (Taybi-Linder syndrome: osteodysplastic primordial dwarfism type III): report of two cases and review of the literature. (11009306)
2000
22
Megalencephaly, hydrocephalus and cortical dysplasia in severe dwarfism mimicking leprechaunism. (9560023)
1998
23
Major central nervous system malformation in "micromelic dwarfism with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects". (8986289)
1997
24
A homozygous nonsense mutation of the human growth hormone receptor gene in a Sardinian boy with Laron-type dwarfism. (9258809)
1997
25
Little People of America: position statement on genetic discoveries in dwarfism (1996). (12731507)
1997
26
Clinical and roentgenographic findings in a patient with primordial microcephalic dwarfism type Caroline Crachami. (8985485)
1996
27
Short root anomaly in a patient with severe short-limbed dwarfism. (8957839)
1995
28
Effects of pituitary dwarfism in the mouse on fast and slow skeletal muscles. (7740919)
1994
29
Moebius syndrome associated with pituitary dwarfism and hypoplastic optic disc. (8503272)
1993
30
Microcephalic, osteodysplastic, primordial dwarfism. (8323498)
1993
31
Urinary excretion of GH in healthy individuals and patients with acromegaly, hypopituitarism and dwarfism. (8447191)
1993
32
Caroline Crachami and the delineation of osteodysplastic primordial dwarfism type III, and autosomal recessive syndrome. (1456293)
1992
33
Effect of insulin-like growth factor I on the thyroid axis in patients with Laron-type dwarfism and healthy subjects. (1362849)
1992
34
Pre- and postnatal growth retardation--severe mental retardation--acral limb deficiencies with poorly keratinized nails. Another example of a distinct syndrome of inherited intrauterine dwarfism? (1801850)
1991
35
Secretion of growth hormone-releasing hormone in patients with idiopathic pituitary dwarfism and acromegaly. (2898191)
1988
36
A new case of the osteodysplastic primordial dwarfism type II. (3591824)
1987
37
Selection for body weight at eight weeks of age. 19. Influences of heterozygosity and dwarfism on early egg production and associated traits. (3658885)
1987
38
An apparently new syndrome of microcephalic primordial dwarfism and cataracts. (3799711)
1986
39
Treatment of pituitary dwarfism with methionyl human growth hormone in Japan. (3830068)
1986
40
An infant with thanatophoric dwarfism surviving 169 days. (3955867)
1986
41
Thanatophoric dwarfism with the cloverleaf skull: a specific antenatal sonographic diagnosis. (3884837)
1985
42
Case report 122: lethal short-limbed dwarfism: achondrogenesis type 2 (Fraccaro-Langer-Saldino). (6970987)
1980
43
Parastremmatic dwarfism. (4791787)
1973
44
Congenital athetosis, mental deficiency, dwarfism and laxity of skin and ligaments. (5123306)
1971
45
An unusual bone dysplasia: parastremmatic dwarfism. (4992387)
1970
46
Mulibrey-nanism: dwarfism with muscle, liver, brain and eye involvement. (5277003)
1970
47
The syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and dwarfism. (5370796)
1969
48
DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA. (14284412)
1965
49
Gonadal dysgenesis and brachymetacarpal dwarfism (pseudopseudohypoparathyroidism). (5848231)
1965
50
DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME. (14217223)
1964

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