MCID: MCR308
MIFTS: 21

Microcephalic Primordial Dwarfism, Toriello Type

Categories: Bone diseases, Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Microcephalic Primordial Dwarfism, Toriello Type

MalaCards integrated aliases for Microcephalic Primordial Dwarfism, Toriello Type:

Name: Microcephalic Primordial Dwarfism, Toriello Type 56 58
Microcephalic Primordial Dwarfism Toriello Type 52 71
Microcephalic Primordial Dwarfism and Cataracts 52

Characteristics:

Orphanet epidemiological data:

58
microcephalic primordial dwarfism, toriello type
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
microcephalic primordial dwarfism, toriello type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 251190
MESH via Orphanet 44 C537321
ICD10 via Orphanet 33 Q87.1
UMLS via Orphanet 72 C1855089
Orphanet 58 ORPHA2643
MedGen 41 C1855089
UMLS 71 C1855089

Summaries for Microcephalic Primordial Dwarfism, Toriello Type

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2643 Definition A rare disorder characterised by growth retardation with prenatal onset, cataracts , microcephaly , intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive . Visit the Orphanet disease page for more resources.

MalaCards based summary : Microcephalic Primordial Dwarfism, Toriello Type, also known as microcephalic primordial dwarfism toriello type, is related to isolated growth hormone deficiency, type ia and seckel syndrome. Affiliated tissues include bone and eye, and related phenotypes are cataract and intellectual disability

More information from OMIM: 251190

Related Diseases for Microcephalic Primordial Dwarfism, Toriello Type

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

# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency, type ia 10.3
2 seckel syndrome 10.3
3 microcephaly 10.3
4 cataract 10.3
5 dwarfism 10.3

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



Diseases related to Microcephalic Primordial Dwarfism, Toriello Type

Symptoms & Phenotypes for Microcephalic Primordial Dwarfism, Toriello Type

Human phenotypes related to Microcephalic Primordial Dwarfism, Toriello Type:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
4 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
5 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
6 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
7 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
8 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
9 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
10 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
11 decreased circulating igg level 58 31 hallmark (90%) Very frequent (99-80%) HP:0004315
12 hypoplasia of dental enamel 58 31 hallmark (90%) Very frequent (99-80%) HP:0006297
13 decreased circulating total igm 58 31 hallmark (90%) Very frequent (99-80%) HP:0002850
14 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
15 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
16 abnormality of the ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000772
17 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
18 neutropenia 58 31 frequent (33%) Frequent (79-30%) HP:0001875
19 micrognathia 31 HP:0000347
20 short foot 31 HP:0001773
21 short palm 31 HP:0004279
22 radial deviation of finger 31 HP:0009466
23 short middle phalanx of finger 31 HP:0005819
24 clinodactyly 31 HP:0030084
25 short proximal phalanx of hallux 31 HP:0010107
26 short middle phalanx of toe 31 HP:0003795
27 short proximal phalanx of thumb 31 HP:0009638

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
microcephaly

Hematology:
neutropenia

Head And Neck Eyes:
downslanting palpebral fissures
cataracts

Skeletal Feet:
short feet
short middle phalanges
short proximal phalanges of halluces

Head And Neck Teeth:
enamel hypoplasia

Head And Neck Face:
mild micrognathia

Immunology:
decreased igg
decreased igm

Growth Other:
intrauterine growth retardation

Skeletal Hands:
clinodactyly
short hands
short middle phalanges
short proximal phalanges of thumb

Skeletal:
delayed bone age

Neurologic Central Nervous System:
mental retardation

Growth Height:
proportionate dwarfism

Respiratory:
respiratory infections

Clinical features from OMIM:

251190

Drugs & Therapeutics for Microcephalic Primordial Dwarfism, Toriello Type

Search Clinical Trials , NIH Clinical Center for Microcephalic Primordial Dwarfism, Toriello Type

Genetic Tests for Microcephalic Primordial Dwarfism, Toriello Type

Anatomical Context for Microcephalic Primordial Dwarfism, Toriello Type

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

40
Bone, Eye

Publications for Microcephalic Primordial Dwarfism, Toriello Type

Articles related to Microcephalic Primordial Dwarfism, Toriello Type:

# Title Authors PMID Year
1
An apparently new syndrome of microcephalic primordial dwarfism and cataracts. 61 56
3799711 1986

Variations for Microcephalic Primordial Dwarfism, Toriello Type

Expression for Microcephalic Primordial Dwarfism, Toriello Type

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

Pathways for Microcephalic Primordial Dwarfism, Toriello Type

GO Terms for Microcephalic Primordial Dwarfism, Toriello Type

Sources for Microcephalic Primordial Dwarfism, Toriello Type

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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