Aliases & Classifications for Frias Syndrome

MalaCards integrated aliases for Frias Syndrome:

Name: Frias Syndrome 58 54 30 74
Growth Deficiency, Facial Anomalies, and Brachydactyly 58 54
Chromosome 14q22 Deletion Syndrome 58 54
14q22-Q23 Microdeletion Syndrome 54
14q22q23 Microdeletion Syndrome 54
Monosomy 14q22-Q23 54
Monosomy 14q22q23 54
Del(14)(q22q23) 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome


HPO:

33
frias syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Frias Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 264200Disease definition14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.Visit the Orphanet disease page for more resources.

MalaCards based summary : Frias Syndrome, also known as growth deficiency, facial anomalies, and brachydactyly, is related to martinez-frias syndrome and opitz-gbbb syndrome. An important gene associated with Frias Syndrome is FRIASS (Frias Syndrome). Affiliated tissues include pituitary and skin, and related phenotypes are hypertelorism and ptosis

OMIM : 58 Frias syndrome is characterized by mild exophthalmia, palpebral ptosis, hypertelorism, short square hands with minimal proximal syndactyly between the second and third fingers, small broad great toes, and short stature. Some patients may exhibit bilateral pedunculated postminimi (summary by Martinez-Fernandez et al., 2014). (609640)

Related Diseases for Frias Syndrome

Diseases related to Frias Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 martinez-frias syndrome 12.6
2 opitz-gbbb syndrome 11.8
3 opitz gbbb syndrome, type ii 11.7
4 mitchell-riley syndrome 11.1
5 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly 11.1
6 brachydactyly 10.1
7 hemochromatosis, neonatal 10.0
8 diabetes mellitus 10.0
9 intestinal atresia 10.0

Graphical network of the top 20 diseases related to Frias Syndrome:



Diseases related to Frias Syndrome

Symptoms & Phenotypes for Frias Syndrome

Human phenotypes related to Frias Syndrome:

33 (show all 39)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 hallmark (90%) HP:0000316
2 ptosis 33 hallmark (90%) HP:0000508
3 muscular hypotonia 33 hallmark (90%) HP:0001252
4 global developmental delay 33 hallmark (90%) HP:0001263
5 short stature 33 hallmark (90%) HP:0004322
6 epicanthus 33 hallmark (90%) HP:0000286
7 cryptorchidism 33 hallmark (90%) HP:0000028
8 downslanted palpebral fissures 33 hallmark (90%) HP:0000494
9 downturned corners of mouth 33 hallmark (90%) HP:0002714
10 high forehead 33 hallmark (90%) HP:0000348
11 proptosis 33 hallmark (90%) HP:0000520
12 preauricular skin tag 33 hallmark (90%) HP:0000384
13 atresia of the external auditory canal 33 hallmark (90%) HP:0000413
14 anophthalmia 33 hallmark (90%) HP:0000528
15 scrotal hypoplasia 33 hallmark (90%) HP:0000046
16 cupped ear 33 hallmark (90%) HP:0000378
17 posteriorly rotated ears 33 hallmark (90%) HP:0000358
18 optic nerve aplasia 33 hallmark (90%) HP:0012521
19 malar flattening 33 frequent (33%) HP:0000272
20 agenesis of corpus callosum 33 frequent (33%) HP:0001274
21 brachycephaly 33 frequent (33%) HP:0000248
22 micrognathia 33 frequent (33%) HP:0000347
23 ventriculomegaly 33 frequent (33%) HP:0002119
24 underdeveloped nasal alae 33 frequent (33%) HP:0000430
25 diabetes insipidus 33 frequent (33%) HP:0000873
26 anterior pituitary hypoplasia 33 frequent (33%) HP:0010627
27 finger syndactyly 33 occasional (7.5%) HP:0006101
28 hearing impairment 33 occasional (7.5%) HP:0000365
29 delayed skeletal maturation 33 occasional (7.5%) HP:0002750
30 short palm 33 occasional (7.5%) HP:0004279
31 short foot 33 occasional (7.5%) HP:0001773
32 short 4th metacarpal 33 occasional (7.5%) HP:0010044
33 short 5th metacarpal 33 occasional (7.5%) HP:0010047
34 clinodactyly of the 5th finger 33 occasional (7.5%) HP:0004209
35 bilateral single transverse palmar creases 33 occasional (7.5%) HP:0007598
36 renal hypoplasia 33 occasional (7.5%) HP:0000089
37 decreased fetal movement 33 occasional (7.5%) HP:0001558
38 toe syndactyly 33 occasional (7.5%) HP:0001770
39 adrenal hypoplasia 33 occasional (7.5%) HP:0000835

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
ptosis, bilateral
exophthalmos, mild

Head And Neck Face:
micrognathia

Neurologic Central Nervous System:
psychomotor delay
segmental callosal hypoplasia, mild
ventricular enlargement, mild

Chest Diaphragm:
right diaphragmatic hernia (rare)

Skeletal Feet:
short broad halluces

Growth Height:
short stature

Head And Neck Ears:
posteriorly rotated ears
cup-shaped ears
hearing loss, unilateral, mild

Head And Neck Teeth:
absence of upper and lower lateral incisors
large upper right central incisor
overlapping left central incisor

Skeletal Hands:
pedunculated postminimi, bilateral

Clinical features from OMIM:

609640

Drugs & Therapeutics for Frias Syndrome

Search Clinical Trials , NIH Clinical Center for Frias Syndrome

Genetic Tests for Frias Syndrome

Genetic tests related to Frias Syndrome:

# Genetic test Affiliating Genes
1 Frias Syndrome 30

Anatomical Context for Frias Syndrome

MalaCards organs/tissues related to Frias Syndrome:

42
Pituitary, Skin

Publications for Frias Syndrome

Articles related to Frias Syndrome:

# Title Authors Year
1
Clinical and genetic complexity of Mitchell-Riley/Martinez-Frias syndrome. ( 25421130 )
2014
2
Trilogy of foregut atresia without genetic abnormality: exception to the Martinez-Frias syndrome. ( 24464842 )
2014
3
Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn. ( 19887127 )
2010
4
Congenital alacrima in a patient with G (Opitz Frias) syndrome. ( 8834259 )
1996
5
The G syndrome/Opitz oculo-genital-laryngeal syndrome/Opitz BBB/G syndrome/Opitz-Frias syndrome. ( 7745346 )
1995
6
Opitz-Frias syndrome. A case with potentially hazardous anaesthetic implications. ( 4083447 )
1985

Variations for Frias Syndrome

Expression for Frias Syndrome

Search GEO for disease gene expression data for Frias Syndrome.

Pathways for Frias Syndrome

GO Terms for Frias Syndrome

Sources for Frias Syndrome

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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