MOPD3
MCID: MCR331
MIFTS: 24

Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii (MOPD3)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii

MalaCards integrated aliases for Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii:

Name: Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii 56
Microcephalic Osteodysplastic Primordial Dwarfism, Type 3 29 71
Microcephalic Osteodysplastic Primordial Dwarfism, Caroline Crachami Type 56
Microcephalic Osteodysplastic Primordial Dwarfism, Sicilian Fairy Type 56
Osteodysplastic Primordial Dwarfism, Type Iii 56
Mopd, Caroline Crachami Type 56
Mopd, Sicilian Fairy Type 56
Mopd Iii; Mopd3 56
Mopd Iii 56
Mopd3 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
microcephalic osteodysplastic primordial dwarfism, type iii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii

MalaCards based summary : Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii, also known as microcephalic osteodysplastic primordial dwarfism, type 3, is related to isolated growth hormone deficiency, type ia and dwarfism, and has symptoms including photophobia Affiliated tissues include bone and eye, and related phenotypes are intellectual disability and muscular hypotonia

More information from OMIM: 210730

Related Diseases for Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii

Diseases in the Microcephalic Osteodysplastic Primordial Dwarfism, Type I family:

Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii

Diseases related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency, type ia 10.6
2 dwarfism 10.6
3 microcephalic osteodysplastic primordial dwarfism, type i 10.5
4 seckel syndrome 10.4
5 microcephaly 10.4

Graphical network of the top 20 diseases related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii:



Diseases related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii

Symptoms & Phenotypes for Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii

Human phenotypes related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii:

31 (show all 44)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 muscular hypotonia 31 HP:0001252
3 pectus carinatum 31 HP:0000768
4 microcephaly 31 HP:0000252
5 optic atrophy 31 HP:0000648
6 photophobia 31 HP:0000613
7 strabismus 31 HP:0000486
8 intrauterine growth retardation 31 HP:0001511
9 high palate 31 HP:0000218
10 micrognathia 31 HP:0000347
11 slender long bone 31 HP:0003100
12 kyphoscoliosis 31 HP:0002751
13 glaucoma 31 HP:0000501
14 clinodactyly of the 5th finger 31 HP:0004209
15 chorioretinal coloboma 31 HP:0000567
16 talipes 31 HP:0001883
17 thin upper lip vermilion 31 HP:0000219
18 proptosis 31 HP:0000520
19 hypospadias 31 HP:0000047
20 high pitched voice 31 HP:0001620
21 hip contracture 31 HP:0003273
22 ulnar deviation of finger 31 HP:0009465
23 delayed cranial suture closure 31 HP:0000270
24 cerebellar atrophy 31 HP:0001272
25 sloping forehead 31 HP:0000340
26 knee flexion contracture 31 HP:0006380
27 thick upper lip vermilion 31 HP:0000215
28 severe short stature 31 HP:0003510
29 hypoplastic pubic bone 31 HP:0003173
30 hypoplastic ischia 31 HP:0003175
31 cone-shaped epiphyses of the phalanges of the hand 31 HP:0010230
32 generalized hypotonia 31 HP:0001290
33 oligodontia 31 HP:0000677
34 hypermetropia 31 HP:0000540
35 large sella turcica 31 HP:0002690
36 narrow forehead 31 HP:0000341
37 bladder exstrophy 31 HP:0002836
38 hypoplasia of the capital femoral epiphysis 31 HP:0003090
39 minimal subcutaneous fat 31 HP:0003717
40 thin long bone diaphyses 31 HP:0006470
41 dysharmonic delayed bone age 31 HP:0005832
42 severe generalized osteoporosis 31 HP:0005897
43 dislocation of the femoral head 31 HP:0008826
44 flat sella turcica 31 HP:0100857

Symptoms via clinical synopsis from OMIM:

56
Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Head And Neck Eyes:
optic atrophy
photophobia
strabismus
glaucoma
hyperopia
more
Head And Neck Mouth:
high palate
thin vermilion border of upper lip

Skeletal Spine:
kyphoscoliosis

Genitourinary External Genitalia Male:
hypospadias

Head And Neck Teeth:
oligodontia

Muscle Soft Tissue:
minimal subcutaneous fat

Skeletal Hands:
fifth finger clinodactyly
cone-shaped phalangeal epiphyses
ulnar deviation of fingers

Skeletal Skull:
hypoplastic mandible
enlarged, flat sella turcica

Growth Height:
proportionate dwarfism

Head And Neck Nose:
small, pointed nose

Head And Neck Head:
microcephaly
delayed closure of fontanelles

Growth Other:
intrauterine growth retardation

Head And Neck Face:
micrognathia
steep, narrow forehead

Skeletal Feet:
talipes

Neurologic Central Nervous System:
cerebellar atrophy
hypotonia
mental retardation

Genitourinary Bladder:
bladder exstrophy

Skeletal:
dysharmonic delayed bone age
severe osteoporosis

Skeletal Limbs:
knee contractures
slender, gracile long tubular bones
thin diaphyses of long bones

Voice:
high-pitched voice

Skeletal Pelvis:
hypoplastic pubic bones
hip contractures
dislocated femoral heads
hypoplastic ischial bones
small proximal femoral epiphyses

Clinical features from OMIM:

210730

UMLS symptoms related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii:


photophobia

Drugs & Therapeutics for Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii

Search Clinical Trials , NIH Clinical Center for Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii

Genetic Tests for Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii

Genetic tests related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii:

# Genetic test Affiliating Genes
1 Microcephalic Osteodysplastic Primordial Dwarfism, Type 3 29

Anatomical Context for Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii

MalaCards organs/tissues related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii:

40
Bone, Eye

Publications for Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii

Articles related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii:

# Title Authors PMID Year
1
Caroline Crachami and the delineation of osteodysplastic primordial dwarfism type III, and autosomal recessive syndrome. 61 56
1456293 1992
2
Studies of microcephalic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles--osteodysplastic primordial dwarfism type III. 61 56
7201239 1982
3
Caroline Crachami, the Sicilian fairy: a further note. 56
8357026 1993
4
Caroline Crachami, the Sicilian Fairy: a case of bird-headed dwarfism. 56
1456294 1992
5
Microcephalic osteodysplastic primordial dwarfism: further evidence for identity of the so-called types I and III. 56
2063933 1991
6
Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III. 56
2764032 1989
7
Cephaloskeletal dysplasia (Taybi-Linder syndrome: osteodysplastic primordial dwarfism type III): report of two cases and review of the literature. 61
11009306 2000
8
Severe prenatal growth retardation, dysmorphic features, pigmentary retinopathy, and generalized absence of subcutaneous tissues: a new entity? 61
9823492 1998

Variations for Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii

Expression for Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii

Search GEO for disease gene expression data for Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii.

Pathways for Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii

GO Terms for Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii

Sources for Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii

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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