Microcephalic Primordial Dwarfism, Toriello Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: MCR308 MIFTS: 21	Microcephalic Primordial Dwarfism, Toriello Type Categories: Bone diseases, Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases
Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly associated with short stature

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

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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

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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
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:

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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

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Drugs & Therapeutics for Microcephalic Primordial Dwarfism, Toriello Type

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

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Genetic Tests for Microcephalic Primordial Dwarfism, Toriello Type

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Anatomical Context for Microcephalic Primordial Dwarfism, Toriello Type

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

⁴⁰

Bone, Eye

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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	Toriello HV...Higgins JV	3799711	1986

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Genes for Microcephalic Primordial Dwarfism, Toriello Type

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Variations for Microcephalic Primordial Dwarfism, Toriello Type

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Expression for Microcephalic Primordial Dwarfism, Toriello Type

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

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Pathways for Microcephalic Primordial Dwarfism, Toriello Type

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GO Terms for Microcephalic Primordial Dwarfism, Toriello Type

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Sources for Microcephalic Primordial Dwarfism, Toriello Type

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⁷⁴ Wikipedia