CED2
MCID: CMR006
MIFTS: 23

Camurati-Engelmann Disease, Type 2 (CED2)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Camurati-Engelmann Disease, Type 2

MalaCards integrated aliases for Camurati-Engelmann Disease, Type 2:

Name: Camurati-Engelmann Disease, Type 2 58
Camurati Engelmann Disease, Type 2 54 30 74
Progressive Diaphyseal Dysplasia with Striations of the Bones 54
Cranioectodermal Dysplasia 2 74
Caend2 58
Ced2 54

Characteristics:

OMIM:

58
Miscellaneous:
waddling gait
painful limbs
based on report of 2 unrelated patients

Inheritance:
autosomal dominant


HPO:

33
camurati-engelmann disease, type 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Camurati-Engelmann Disease, Type 2

NIH Rare Diseases : 54 Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. The age that symptoms begin varies greatly, but most people with this condition develop pain or weakness by adolescence. Camurati-Engelmann disease is caused by a mutation in the TGFB1 gene and inheritance isĀ autosomal dominant. In some cases, people have the gene mutation that causes Camurati-Engelmann disease but they never develop symptoms. In others, symptoms are present, but a gene mutation cannot be found. These cases are referred to as Camurati-Engelmann disease type 2. Treatment for Camurati-Engelman disease depends on many factors including the signs and symptoms present in each person and the severity of the condition. Treatment optionsĀ  to control symptoms may include corticosteroid therapy, losartan as an adjuvant therapy to minimize the need for steroids, pain medications, and craniectomy to reduce intracranial pressure and headaches.

MalaCards based summary : Camurati-Engelmann Disease, Type 2, also known as camurati engelmann disease, type 2, is related to camurati-engelmann disease and cranioectodermal dysplasia 2. Affiliated tissues include bone and skeletal muscle, and related phenotypes are osteopenia and muscle weakness

Description from OMIM: 606631

Related Diseases for Camurati-Engelmann Disease, Type 2

Diseases in the Camurati-Engelmann Disease family:

Camurati-Engelmann Disease, Type 2

Diseases related to Camurati-Engelmann Disease, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 camurati-engelmann disease 11.5
2 cranioectodermal dysplasia 2 11.3

Symptoms & Phenotypes for Camurati-Engelmann Disease, Type 2

Human phenotypes related to Camurati-Engelmann Disease, Type 2:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 osteopenia 33 HP:0000938
2 muscle weakness 33 HP:0001324
3 delayed puberty 33 HP:0000823
4 skeletal muscle atrophy 33 HP:0003202
5 waddling gait 33 HP:0002515
6 mitral valve prolapse 33 HP:0001634
7 hypogonadism 33 HP:0000135
8 mitral regurgitation 33 HP:0001653
9 hyperostosis 33 HP:0100774
10 hip contracture 33 HP:0003273
11 lower limb pain 33 HP:0012514
12 knee flexion contracture 33 HP:0006380
13 elevated erythrocyte sedimentation rate 33 HP:0003565
14 elevated alkaline phosphatase 33 HP:0003155
15 thoracolumbar scoliosis 33 HP:0002944

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
mitral valve prolapse
mitral valve regurgitation

Endocrine Features:
hypogonadotropic hypogonadism
delayed pubertal development
low luteinizing hormone (lh) level

Skeletal Spine:
thoracolumbar scoliosis, mild
vertical sclerotic striations in vertebral bodies
coarse trabeculae

Skeletal Skull:
petromastoid sclerosis, mild

Skeletal Limbs:
flexion of knees
abduction of lower limbs
vertical sclerotic striations of proximal femora
vertical sclerotic striations of proximal tibia
vertical sclerotic striations of distal tibial metaphyses
more
Growth Other:
marfanoid habitus

Muscle Soft Tissue:
muscular atrophy
muscular weakness, mild

Chest Ribs Sternum Clavicles And Scapulae:
coarse trabeculae of ribs

Skeletal Pelvis:
curvilinear sclerotic striations in ilia
flexion contracture of hip joints, mild

Skeletal Hands:
diffuse trabecular coarseness of carpals
diffuse trabecular coarseness of metacarpals
cortical hyperostosis of second and third metacarpals, mild
sclerosis of epiphyses of tubular bones, mild

Clinical features from OMIM:

606631

Drugs & Therapeutics for Camurati-Engelmann Disease, Type 2

Search Clinical Trials , NIH Clinical Center for Camurati-Engelmann Disease, Type 2

Genetic Tests for Camurati-Engelmann Disease, Type 2

Genetic tests related to Camurati-Engelmann Disease, Type 2:

# Genetic test Affiliating Genes
1 Camurati Engelmann Disease, Type 2 30

Anatomical Context for Camurati-Engelmann Disease, Type 2

MalaCards organs/tissues related to Camurati-Engelmann Disease, Type 2:

42
Bone, Skeletal Muscle

Publications for Camurati-Engelmann Disease, Type 2

Articles related to Camurati-Engelmann Disease, Type 2:

# Title Authors Year
1
Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones. ( 11807860 )
2002

Variations for Camurati-Engelmann Disease, Type 2

Expression for Camurati-Engelmann Disease, Type 2

Search GEO for disease gene expression data for Camurati-Engelmann Disease, Type 2.

Pathways for Camurati-Engelmann Disease, Type 2

GO Terms for Camurati-Engelmann Disease, Type 2

Sources for Camurati-Engelmann Disease, Type 2

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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