Aliases & Classifications for Frias Syndrome

MalaCards integrated aliases for Frias Syndrome:

Name: Frias Syndrome 57 53 29 73
Growth Deficiency, Facial Anomalies, and Brachydactyly 57 53
Chromosome 14q22 Deletion Syndrome 57 53
14q22-Q23 Microdeletion Syndrome 53
14q22q23 Microdeletion Syndrome 53
Monosomy 14q22-Q23 53
Monosomy 14q22q23 53
Del(14)(q22q23) 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome


HPO:

32
frias syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Frias Syndrome

OMIM : 57 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)

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 micrognathia

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 12.4
2 opitz-gbbb syndrome 11.6
3 opitz gbbb syndrome, type ii 11.5
4 mitchell-riley syndrome 10.9
5 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly 10.9
6 brachydactyly 10.0
7 hemochromatosis, neonatal 9.9
8 diabetes mellitus 9.9
9 intestinal atresia 9.9
10 laryngitis 9.9

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



Diseases related to Frias Syndrome

Symptoms & Phenotypes for Frias Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Frias Syndrome:

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

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 29

Anatomical Context for Frias Syndrome

MalaCards organs/tissues related to Frias Syndrome:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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