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Pygmy

MedGen UID:
376605
Concept ID:
C1849524
Disease or Syndrome
Synonyms: PYGMY, AFRICAN
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Multifactorial inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Sources: HPO, Orphanet
A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
OMIM®: 265850

Clinical features

Disorder of endocrine system
MedGen UID:
4043
Concept ID:
C0014130
Disease or Syndrome
Your endocrine system includes eight major glands throughout your body. These glands make hormones. Hormones are chemical messengers. They travel through your bloodstream to tissues or organs. Hormones work slowly and affect body processes from head to toe. These include. -Growth and development. -Metabolism - digestion, elimination, breathing, blood circulation and maintaining body temperature . -Sexual function. -Reproduction. -Mood. If your hormone levels are too high or too low, you may have a hormone disorder. Hormone diseases also occur if your body does not respond to hormones the way it is supposed to. Stress, infection and changes in your blood's fluid and electrolyte balance can also influence hormone levels. In the United States, the most common endocrine disease is diabetes. There are many others. They are usually treated by controlling how much hormone your body makes. Hormone supplements can help if the problem is too little of a hormone.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding

Recent clinical studies

Etiology

Flacke GL, Tkalčić S, Steck B, Warren K, Martin GB
Zoo Biol 2016 Nov;35(6):556-569. Epub 2016 Nov 10 doi: 10.1002/zoo.21336. PMID: 27862246
Perry GH, Foll M, Grenier JC, Patin E, Nédélec Y, Pacis A, Barakatt M, Gravel S, Zhou X, Nsobya SL, Excoffier L, Quintana-Murci L, Dominy NJ, Barreiro LB
Proc Natl Acad Sci U S A 2014 Sep 2;111(35):E3596-603. Epub 2014 Aug 18 doi: 10.1073/pnas.1402875111. PMID: 25136101Free PMC Article
Romero A, Ramírez-Rozzi FV, De Juan J, Pérez-Pérez A
PLoS One 2013;8(12):e84804. Epub 2013 Dec 19 doi: 10.1371/journal.pone.0084804. PMID: 24367696Free PMC Article
Migliano AB, Romero IG, Metspalu M, Leavesley M, Pagani L, Antao T, Huang DW, Sherman BT, Siddle K, Scholes C, Hudjashov G, Kaitokai E, Babalu A, Belatti M, Cagan A, Hopkinshaw B, Shaw C, Nelis M, Metspalu E, Mägi R, Lempicki RA, Villems R, Lahr MM, Kivisild T
Hum Biol 2013 Feb-Jun;85(1-3):251-84. doi: 10.3378/027.085.0313. PMID: 24297229
Bahuchet S
Hum Biol 2012 Feb;84(1):11-43. doi: 10.3378/027.084.0101. PMID: 22452427

Diagnosis

Delk KW, Eshar D, Garcia E, Harkin K
J Small Anim Pract 2014 Mar;55(3):174-7. Epub 2013 Dec 23 doi: 10.1111/jsap.12169. PMID: 24372164
Weishaupt J, Kolb-Mäurer A, Lempert S, Nenoff P, Uhrlaß S, Hamm H, Goebeler M
Mycoses 2014 Feb;57(2):125-7. Epub 2013 Jul 25 doi: 10.1111/myc.12113. PMID: 23889168
Venkataraman VV, Kraft TS, Desilva JM, Dominy NJ
Hum Biol 2013 Feb-Jun;85(1-3):309-28. doi: 10.3378/027.085.0315. PMID: 24297231
Delfraro A, Clara M, Tomé L, Achaval F, Levis S, Calderón G, Enria D, Lozano M, Russi J, Arbiza J
Emerg Infect Dis 2003 Jul;9(7):846-52. doi: 10.3201/eid0907.020803. PMID: 12890326Free PMC Article
Middleton JR, Katz L, Angelos JA, Tyler JW
J Vet Intern Med 1997 Nov-Dec;11(6):382-4. PMID: 9470167

Therapy

Délicat-Loembet LM, Elguero E, Arnathau C, Durand P, Ollomo B, Ossari S, Mezui-me-ndong J, Mbang Mboro T, Becquart P, Nkoghe D, Leroy E, Sica L, Gonzalez JP, Prugnolle F, Renaud F
Infect Genet Evol 2014 Jul;25:52-6. Epub 2014 Apr 13 doi: 10.1016/j.meegid.2014.04.003. PMID: 24727548
Weishaupt J, Kolb-Mäurer A, Lempert S, Nenoff P, Uhrlaß S, Hamm H, Goebeler M
Mycoses 2014 Feb;57(2):125-7. Epub 2013 Jul 25 doi: 10.1111/myc.12113. PMID: 23889168
King AM, Crim WS, Menke NB, Pizon AF
Toxicon 2012 Dec 1;60(7):1287-9. Epub 2012 Aug 30 doi: 10.1016/j.toxicon.2012.08.007. PMID: 22963729
Middleton JR, Katz L, Angelos JA, Tyler JW
J Vet Intern Med 1997 Nov-Dec;11(6):382-4. PMID: 9470167
Centers for Disease Control and Prevention (CDC).
MMWR Morb Mortal Wkly Rep 1995 Jun 23;44(24):462-3. PMID: 7776952

Prognosis

Flacke GL, Tkalčić S, Steck B, Warren K, Martin GB
Zoo Biol 2016 Nov;35(6):556-569. Epub 2016 Nov 10 doi: 10.1002/zoo.21336. PMID: 27862246
Olivero J, Fa JE, Farfán MA, Lewis J, Hewlett B, Breuer T, Carpaneto GM, Fernández M, Germi F, Hattori S, Head J, Ichikawa M, Kitanaishi K, Knights J, Matsuura N, Migliano A, Nese B, Noss A, Ekoumou DO, Paulin P, Real R, Riddell M, Stevenson EG, Toda M, Vargas JM, Yasuoka H, Nasi R
PLoS One 2016;11(1):e0144499. Epub 2016 Jan 6 doi: 10.1371/journal.pone.0144499. PMID: 26735953Free PMC Article
Romero A, Ramírez-Rozzi FV, De Juan J, Pérez-Pérez A
PLoS One 2013;8(12):e84804. Epub 2013 Dec 19 doi: 10.1371/journal.pone.0084804. PMID: 24367696Free PMC Article
Karpestam E, Merilaita S, Forsman A
BMC Ecol 2013 May 2;13:17. doi: 10.1186/1472-6785-13-17. PMID: 23639215Free PMC Article
Craig C, Styliadis S, Woodward D, Werker D
Can Commun Dis Rep 1997 Sep 1;23(17):129-31; discussion 131-2. PMID: 9376819

Clinical prediction guides

Perry GH, Foll M, Grenier JC, Patin E, Nédélec Y, Pacis A, Barakatt M, Gravel S, Zhou X, Nsobya SL, Excoffier L, Quintana-Murci L, Dominy NJ, Barreiro LB
Proc Natl Acad Sci U S A 2014 Sep 2;111(35):E3596-603. Epub 2014 Aug 18 doi: 10.1073/pnas.1402875111. PMID: 25136101Free PMC Article
Romero A, Ramírez-Rozzi FV, De Juan J, Pérez-Pérez A
PLoS One 2013;8(12):e84804. Epub 2013 Dec 19 doi: 10.1371/journal.pone.0084804. PMID: 24367696Free PMC Article
Karpestam E, Merilaita S, Forsman A
BMC Ecol 2013 May 2;13:17. doi: 10.1186/1472-6785-13-17. PMID: 23639215Free PMC Article
Kaviar S, Shockey J, Sundberg P
PLoS One 2012;7(11):e49854. Epub 2012 Nov 21 doi: 10.1371/journal.pone.0049854. PMID: 23185461Free PMC Article
Dávila N, Shea BT, Omoto K, Mercado M, Misawa S, Baumann G
J Pediatr Endocrinol Metab 2002 Mar;15(3):269-76. PMID: 11924928

Recent systematic reviews

Keane M, de Magalhães JP
Mech Ageing Dev 2013 Jul-Aug;134(7-8):346-8. Epub 2013 Apr 29 doi: 10.1016/j.mad.2013.04.006. PMID: 23639551

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