Disease #02442 (AMD1 (dysplasia, acromesomelic, type 1, Maroteaux), OMIM:602875)

Official abbreviation AMD1
Name dysplasia, acromesomelic, type 1, Maroteaux
OMIM ID 602875
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 34
Phenotype entries for this disease 33
Associated with 1 gene NPR2
Associated tissues -
Disease features autosomal recessive
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-16 17:33:20 +01:00 (CET)


Individuals

34 entries on 1 page. Showing entries 1 - 34.
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00033815 15146390-Pat1 PubMed: Bartels 2004 family, heterozygous carriers have heights below mean for matched controls - yes Brazil Brazil - - - - AMD1 Acromesomelic dysplasia Maroteaux type (AMDM); height mother 162cm, height father 168cm NPR2 NPR2 1 1 Irfan Ullah
00033849 15146390-Pat2 PubMed: Bartels 2004 - - yes Turks and Caicos Islands Turkish - - - - AMD1 Acromesomelic dysplasia Maroteaux type (AMDM) The father of affected individuals showed height below normal i.e. 170 cm (normal 175.1) NPR2 NPR2 1 1 Irfan Ullah
00033850 15146390-Pat3 PubMed: Bartels 2004 - ? no United States United States - - - - AMD1 - NPR2 NPR2 2 1 Irfan Ullah
00033852 15146390-Pat4 PubMed: Bartels 2004 - - yes India East Indian - - - - AMD1 - NPR2 NPR2 1 1 Irfan Ullah
00033853 15146390-Pat5 PubMed: Bartels 2004 - - - Pakistan - - - - - AMD1 - NPR2 NPR2 1 1 Irfan Ullah
00034037 15146390-Pat9 PubMed: Bartels 2004 - - yes (Turkey) Turkish - - - - AMD1 - NPR2 NPR2 1 1 Irfan Ullah
00034038 15146390-Pat10 PubMed: Bartels 2004 - - no United States United States - - - - AMD1 - NPR2 NPR2 2 1 Irfan Ullah
00034040 15146390-Pat11 PubMed: Bartels 2004 - - yes Netherlands Dutch - - - - AMD1 - NPR2 NPR2 1 1 Irfan Ullah
00034379 15146390-Pat12 PubMed: Bartels 2004 - - - Turkey Turkish - - - - AMD1 - NPR2 NPR2 1 1 Irfan Ullah
00034380 15146390-Pat13 PubMed: Bartels 2004 - - yes - - - - - - AMD1 - NPR2 NPR2 1 1 Irfan Ullah
00034381 15146390-Pat14 PubMed: Bartels 2004 - - yes Netherlands Dutch - - - - AMD1 - NPR2 NPR2 1 1 Irfan Ullah
00034382 15146390-Pat15 PubMed: Bartels 2004 - - - - - - - - - AMD1 - NPR2 NPR2 1 1 Irfan Ullah
00034383 15146390-Pat16 PubMed: Bartels 2004 - - - Germany German - - - - AMD1 - NPR2 NPR2 1 1 Irfan Ullah
00034542 15146390-Pat17 PubMed: Bartels 2004 - - yes Lebanon Lebanes - - - - AMD1 - NPR2 NPR2 1 1 Irfan Ullah
00034543 15146390-Pat18 PubMed: Bartels 2004 - - yes Turkey Turkish - - - - AMD1 - NPR2 NPR2 1 1 Irfan Ullah
00034544 15146390-Pat19 PubMed: Bartels 2004 - - yes Oman Arab - - - - AMD1 - NPR2 NPR2 1 1 Irfan Ullah
00034545 15146390-Pat20 PubMed: Bartels 2004 - - no - - - - - - AMD1 - NPR2 NPR2 2 1 Irfan Ullah
00034546 15146390-Pat21 PubMed: Bartels 2004 - - yes Lebanon Lebanes - - - - AMD1 - NPR2 NPR2 1 1 Irfan Ullah
00034547 16384845-proband PubMed: Olney 2006 - F - - - - - - - AMD1 - NPR2 NPR2 1 1 Irfan Ullah
00034548 17652215-FamPatIV3 PubMed: Hachiya 2007 - M yes Japan Japanese - - - - AMD1 - NPR2 NPR2 1 1 Irfan Ullah
00038377 22691581-FamA PubMed: Khan 2012 5-generation family, 7 affwcteds (2F, 5M), unaffected heterozygous relatives - yes Pakistan Punjabi - - - - AMD1 see paper; … NPR2 NPR2 1 7 Irfan Ullah
00038378 22691582-FamF PubMed: Khan 2012 4-generation family, 3 affwcteds (2F, M), unaffected heterozygous relatives - yes Pakistan Sindhi - - - - AMD1 see paper; … NPR2 NPR2 1 3 Irfan Ullah
00038379 Family A - - - yes Pakistan Pashtoon - - - - AMD1 - NPR2 NPR2 1 1 Irfan Ullah
00038380 Family B - - - yes Pakistan Pashtoon - - - - AMD1 - NPR2 NPR2 1 1 Irfan Ullah
00108744 - - - - - - - - - - - AMD1 - - NPR2 2 1 Dong Li
00110427 22691581-FamB PubMed: Khan 2012 6-generation family, 3 affwcteds (3M), unaffected heterozygous relatives - yes Pakistan Punjabi - - - - AMD1 see paper; … NPR2 NPR2 1 3 Johan den Dunnen
00110428 22691581-FamC PubMed: Khan 2012 6-generation family, 3 affwcteds (2F, M), unaffected heterozygous relatives - yes Pakistan Punjabi - - - - AMD1 see paper; … NPR2 NPR2 1 3 Johan den Dunnen
00110429 22691581-FamD PubMed: Khan 2012 6-generation family, 5 affwcteds (F, 4M), unaffected heterozygous relatives - yes Pakistan Punjabi - - - - AMD1 see paper; … NPR2 NPR2 1 5 Johan den Dunnen
00110430 22691581-FamE PubMed: Khan 2012 5-generation family, 5 affwcteds (4F, M), unaffected heterozygous relatives - yes Pakistan Punjabi - - - - AMD1 see paper; … NPR2 NPR2 1 5 Johan den Dunnen
00179511 FamNAD-08 PubMed: Ain 2019 5-genration family, 6 affected (F, 5M), heterozygous carriers with slightly short hands and feet F;M yes Pakistan - - - - - AMD1 see paper; ..., markedly short forearms, short and broad fingers and toes and broad forehead, broad face, limited extension elbows, normal motor milestones NPR2 NPR2 1 5 Noor-ul-ain Ain
00179513 FamNAD-09 PubMed: Ain 2019 4-generation family, 4 affected (F, 3M), heterozygous carriers have short hands and feet F;M yes Pakistan - - - - - AMD1 see paper; ..., markedly short forearms, short and broad fingers and toes, limited extension elbows, normal motor milestones, severe pain in back for last few years; heterozygous carriers have short hands and feet NPR2 NPR2 1 4 Noor-ul-ain Ain
00179514 FamMid-02 PubMed: Ain 2019 4-generation family, 4 affected sisters F yes Pakistan - - - - - AMD1 see paper; ..., markedly short forearms, short and broad fingers and toes, limited extension elbows, normal motor milestones NPR2 NPR2 1 4 Noor-ul-ain Ain
00179516 FamFD-01 PubMed: Ain 2019 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Finland - - - - - AMD1 see paper; ..., broad forehead, low nasal bridge, markedly short forearms short and broad fingers and toes, limited extension elbows, normal motor milestones NPR2 NPR2 2 2 Noor-ul-ain Ain
00459491 TID-09 V:1 - - F yes Pakistan - - - - - AMD1 - - NPR2 1 2 Amatul Raqeeb Jawaid
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