MCID: MCR036
MIFTS: 13

Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance

Categories: Bone diseases, Rare diseases, Skin diseases

Aliases & Classifications for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and...

MalaCards integrated aliases for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance:

Name: Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance 56 52
Macroepiphyseal Dysplasia, Mcalister Coe Type 52 71
Mcalister Coe Whyte Syndrome 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 248010
MedGen 41 C2931597
UMLS 71 C2931597

Summaries for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and...

MalaCards based summary : Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance, is also known as macroepiphyseal dysplasia, mcalister coe type. Affiliated tissues include skin, and related phenotypes are coarse hair and short stature

More information from OMIM: 248010

Related Diseases for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and...

Symptoms & Phenotypes for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and...

Human phenotypes related to Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 coarse hair 31 HP:0002208
2 short stature 31 HP:0004322
3 decreased muscle mass 31 HP:0003199
4 epiphyseal dysplasia 31 HP:0002656
5 osteoporosis 31 HP:0000939
6 joint laxity 31 HP:0001388
7 prematurely aged appearance 31 HP:0007495
8 recurrent fractures 31 HP:0002757
9 enlarged joints 31 HP:0003037
10 reduced subcutaneous adipose tissue 31 HP:0003758
11 complex palmar dermatoglyphic pattern 31 HP:0007602

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Skeletal:
epiphyseal dysplasia
osteoporosis
recurrent fractures
prominent joints
macroepiphyses
more
Head And Neck Face:
aged appearance

Skin Nails Hair Hair:
decreased muscle mass
dry coarse hair muscle, soft tissue decreased subcutaneous fat

Skin Nails Hair Skin:
complex palmar dermatoglyphic pattern
wrinkled palms

Clinical features from OMIM:

248010

Drugs & Therapeutics for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and...

Search Clinical Trials , NIH Clinical Center for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance

Genetic Tests for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and...

Anatomical Context for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and...

MalaCards organs/tissues related to Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance:

40
Skin

Publications for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and...

Articles related to Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance:

# Title Authors PMID Year
1
Macroepiphyseal dysplasia with symptomatic osteoporosis, wrinkled skin, and aged appearance: a presumed autosomal recessive condition. 56
3941923 1986

Variations for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and...

Expression for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and...

Search GEO for disease gene expression data for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance.

Pathways for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and...

GO Terms for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and...

Sources for Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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