H01830 | |
H number | H01830 |
Name | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type |
Description | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type (SMDMDM) is a rare, autosomal-recessive lethal skeletal dysplasia characterized pre and postnatal growth retardation, developmental delay, large anterior fontanel, prominent forehead, low-set ears, depressed nasal bridge, short nose, anteverted nares, increased nasal width, prominent abdomen, and short limbs. A homozygous mutation in MAGMAS (Mitochondria-associated granulocyte macrophage colony stimulating factor-signaling molecule), also referred to as PAM16, is identified from patients of this disease. |
Category | Congenital malformation |
Network | - |
Gene | PAM16 [HSA:51025] [KO:K17805] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD24.4 ICD-10: Q77.8 OMIM: 613320 |
Reference | PMID:24786642 AUTHORS Mehawej C, Delahodde A, Legeai-Mallet L, Delague V, Kaci N, Desvignes JP, Kibar Z, Capo-Chichi JM, Chouery E, Munnich A, Cormier-Daire V, Megarbane A TITLE The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia. JOURNAL PLoS Genet 10:e1004311 (2014) DOI:10.1371/journal.pgen.1004311 PMID:24458487 AUTHORS Megarbane A, Mehawej C, El Zahr A, Haddad S, Cormier-Daire V TITLE A second family with autosomal recessive spondylometaphyseal dysplasia and early death. JOURNAL Am J Med Genet A 164A:1010-4 (2014) DOI:10.1002/ajmg.a.36372 PMID:18925669 AUTHORS Megarbane A, Dagher R, Melki I TITLE Sib pair with previously unreported skeletal dysplasia. JOURNAL Am J Med Genet A 146A:2916-9 (2008) DOI:10.1002/ajmg.a.32540 |