MCID: MCR036
MIFTS: 14

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 58 54
Macroepiphyseal Dysplasia, Mcalister Coe Type 54 74
Mcalister Coe Whyte Syndrome 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance:
Inheritance autosomal recessive inheritance


Classifications:



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 bone, and related phenotypes are coarse hair and short stature

Description 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:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 coarse hair 33 HP:0002208
2 short stature 33 HP:0004322
3 osteoporosis 33 HP:0000939
4 decreased muscle mass 33 HP:0003199
5 epiphyseal dysplasia 33 HP:0002656
6 joint laxity 33 HP:0001388
7 prematurely aged appearance 33 HP:0007495
8 recurrent fractures 33 HP:0002757
9 enlarged joints 33 HP:0003037
10 reduced subcutaneous adipose tissue 33 HP:0003758
11 complex palmar dermatoglyphic pattern 33 HP:0007602

Symptoms via clinical synopsis from OMIM:

58
Growth Height:
short stature

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

Head And Neck Face:
aged appearance

Skeletal:
osteoporosis
epiphyseal dysplasia
recurrent fractures
prominent joints
macroepiphyses
more
Skin Nails Hair Skin:
wrinkled palms
complex palmar dermatoglyphic pattern

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:

42
Skin, Bone

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

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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