AYGRP
MCID: AYM001
MIFTS: 40

Ayme-Gripp Syndrome (AYGRP)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ayme-Gripp Syndrome

MalaCards integrated aliases for Ayme-Gripp Syndrome:

Name: Ayme-Gripp Syndrome 57 75 29 6 40
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation 57 75
Fine-Lubinsky Syndrome 59 73
Aygrp 57 75
Brachycephaly-Deafness-Cataract-Intellectual Disability Syndrome 59
Aymé-Gripp Syndrome 59
Cataract 44
Facies 44

Characteristics:

Orphanet epidemiological data:

59
aymé-gripp syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
ayme-gripp syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ayme-Gripp Syndrome

UniProtKB/Swiss-Prot : 75 Ayme-Gripp syndrome: A multisystem disorder characterized by congenital cataracts, sensorineural deafness, intellectual disability, seizures, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth.

MalaCards based summary : Ayme-Gripp Syndrome, also known as cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation, is related to cataract 21, multiple types and hyperferritinemia with or without cataract, and has symptoms including seizures An important gene associated with Ayme-Gripp Syndrome is MAF (MAF BZIP Transcription Factor). Affiliated tissues include eye, skin and bone, and related phenotypes are malar flattening and hypertelorism

OMIM : 57 Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth (Niceta et al., 2015). (601088)

Related Diseases for Ayme-Gripp Syndrome

Diseases related to Ayme-Gripp Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1208)
# Related Disease Score Top Affiliating Genes
1 cataract 21, multiple types 33.2 LOC101928230 MAF
2 hyperferritinemia with or without cataract 12.5
3 cataract 4, multiple types 12.5
4 cataract 1, multiple types 12.5
5 cataract 9, multiple types 12.5
6 cataract 2, multiple types 12.5
7 cataract 16, multiple types 12.5
8 cataract 5, multiple types 12.4
9 cataract 6, multiple types 12.4
10 cataract 3, multiple types 12.4
11 cataract 17, multiple types 12.4
12 cataract 11, multiple types 12.4
13 cataract 22, multiple types 12.4
14 cataract 40 12.4
15 cataract 10, multiple types 12.4
16 cataract 30, multiple types 12.4
17 cataract 14, multiple types 12.4
18 cataract 23, multiple types 12.4
19 cataract 18 12.4
20 cataract 31, multiple types 12.3
21 mental retardation-hypotonic facies syndrome, x-linked, 1 12.3
22 congenital cataracts, facial dysmorphism, and neuropathy 12.3
23 brachycephaly, deafness, cataract, microstomia, and mental retardation 12.3
24 cerulean cataract 12.3
25 cataract 8, multiple types 12.3
26 cataract 34, multiple types 12.3
27 cataract 29 12.3
28 cataract 24 12.3
29 cataract 7 12.3
30 cataract 41 12.3
31 cataract 32, multiple types 12.3
32 cataract 38 12.3
33 cataract 39, multiple types 12.3
34 myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 12.3
35 cataract microcornea syndrome 12.3
36 cataract 26, multiple types 12.3
37 cataract 25 12.3
38 cataract 46, juvenile-onset 12.3
39 cataract 12, multiple types 12.3
40 microphthalmia, isolated, with cataract 1 12.3
41 cataract 19, multiple types 12.3
42 cataract 15, multiple types 12.3
43 cataract 44 12.3
44 cataract 13 with adult i phenotype 12.2
45 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 12.2
46 cataract 35 12.2
47 cataract 37 12.2
48 cataract 30 12.2
49 cataract 47 12.2
50 cataract 43 12.2

Graphical network of the top 20 diseases related to Ayme-Gripp Syndrome:



Diseases related to Ayme-Gripp Syndrome

Symptoms & Phenotypes for Ayme-Gripp Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
downslanting palpebral fissures (in some patients)
upslanting palpebral fissures (in some patients)
congenital cataracts
more
Neurologic Central Nervous System:
seizures
chiari i malformation (rare)
mental retardation, mild to severe
enlarged ventricles or hydrocephaly
cerebral atrophy (rare)

Head And Neck Head:
brachycephaly
widened anterior fontanel
delayed closure of fontanel (in some patients)

Head And Neck Face:
long philtrum
high forehead
midface hypoplasia
malar hypoplasia
prognathism (in some patients)
more
Skin Nails Hair Hair:
sparse scalp hair (in some patients)

Skin Nails Hair Nails:
dystrophic nails (in some patients)

Head And Neck Teeth:
dental anomalies (rare)

Chest Breasts:
hypoplastic breasts

Skeletal Limbs:
joint limitations (in some patients)
bilateral congenital dislocation of radial heads (rare)
radioulnar synostosis (rare)

Head And Neck Ears:
low-set ears
hearing loss, sensorineural
posteriorly rotated ears (in some patients)
small ears (in some patients)

Head And Neck Nose:
short nose
flat nasal bridge
broad nasal root

Skeletal Skull:
brachycephaly

Head And Neck Mouth:
small mouth
thin upper lip

Skeletal Hands:
brachydactyly (in some patients)
fifth-finger clinodactyly (in some patients)
camptodactyly (rare)
tapered fingers (rare)

Growth Height:
reduced height

Cardiovascular Heart:
pericarditis (rare)

Skeletal Pelvis:
chondrolysis of hip (rare)


Clinical features from OMIM:

601088

Human phenotypes related to Ayme-Gripp Syndrome:

32 (show all 39)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 hypertelorism 32 HP:0000316
3 low-set ears 32 HP:0000369
4 ptosis 32 HP:0000508
5 intellectual disability 32 HP:0001249
6 seizures 32 HP:0001250
7 mandibular prognathia 32 occasional (7.5%) HP:0000303
8 depressed nasal bridge 32 HP:0005280
9 abnormality of the dentition 32 occasional (7.5%) HP:0000164
10 wide nasal bridge 32 HP:0000431
11 short nose 32 HP:0003196
12 microtia 32 occasional (7.5%) HP:0008551
13 smooth philtrum 32 HP:0000319
14 sensorineural hearing impairment 32 HP:0000407
15 short stature 32 HP:0004322
16 brachycephaly 32 HP:0000248
17 long philtrum 32 HP:0000343
18 nail dystrophy 32 occasional (7.5%) HP:0008404
19 flat face 32 HP:0012368
20 downslanted palpebral fissures 32 occasional (7.5%) HP:0000494
21 narrow mouth 32 HP:0000160
22 upslanted palpebral fissure 32 occasional (7.5%) HP:0000582
23 brachydactyly 32 occasional (7.5%) HP:0001156
24 thin upper lip vermilion 32 HP:0000219
25 sparse scalp hair 32 occasional (7.5%) HP:0002209
26 pericarditis 32 occasional (7.5%) HP:0001701
27 high forehead 32 HP:0000348
28 radioulnar synostosis 32 HP:0002974
29 midface retrusion 32 HP:0011800
30 tapered finger 32 occasional (7.5%) HP:0001182
31 broad philtrum 32 HP:0000289
32 cerebral atrophy 32 occasional (7.5%) HP:0002059
33 delayed cranial suture closure 32 occasional (7.5%) HP:0000270
34 posteriorly rotated ears 32 occasional (7.5%) HP:0000358
35 camptodactyly 32 occasional (7.5%) HP:0012385
36 congenital cataract 32 HP:0000519
37 broad eyebrow 32 HP:0011229
38 arnold-chiari type i malformation 32 occasional (7.5%) HP:0007099
39 craniofacial asymmetry 32 occasional (7.5%) HP:0004484

UMLS symptoms related to Ayme-Gripp Syndrome:


seizures

Drugs & Therapeutics for Ayme-Gripp Syndrome

Search Clinical Trials , NIH Clinical Center for Ayme-Gripp Syndrome

Cochrane evidence based reviews: cataract

Genetic Tests for Ayme-Gripp Syndrome

Genetic tests related to Ayme-Gripp Syndrome:

# Genetic test Affiliating Genes
1 Ayme-Gripp Syndrome 29 MAF

Anatomical Context for Ayme-Gripp Syndrome

MalaCards organs/tissues related to Ayme-Gripp Syndrome:

41
Eye, Skin, Bone, Heart, Breast, Prostate, Retina

Publications for Ayme-Gripp Syndrome

Articles related to Ayme-Gripp Syndrome:

# Title Authors Year
1
Fine-Lubinsky syndrome: managing the rare syndromic synostosis. ( 19251507 )
2010
2
Further clinical delineation of Fine-Lubinsky syndrome. ( 19396831 )
2009
3
Fetal manifestation of the Fine-Lubinsky syndrome. Brachycephaly, deafness, cataract, microstomia and mental retardation syndrome complicated by Pierre-Robin anomaly and polyhydramnios. ( 18417983 )
2008
4
Fine-Lubinsky syndrome: sibling pair suggests possible autosomal recessive inheritance. ( 17394214 )
2007
5
A variant of Fine-Lubinsky syndrome: a Japanese boy with profound deafness, cataracts, mental retardation, and brachycephaly without craniosynostosis. ( 12072800 )
2002
6
Fine-Lubinsky syndrome: a fourth patient with brachycephaly, deafness, cataract, microstomia and mental retardation. ( 8867660 )
1996

Variations for Ayme-Gripp Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Ayme-Gripp Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 MAF p.Ser54Leu VAR_073891 rs727502766
2 MAF p.Thr58Ala VAR_073892 rs727502767
3 MAF p.Thr58Ile VAR_073893 rs727502769
4 MAF p.Pro59His VAR_073894 rs727502770
5 MAF p.Pro59Leu VAR_073895 rs727502770
6 MAF p.Thr62Arg VAR_073896 rs727502771
7 MAF p.Pro69Arg VAR_073897 rs727502768

ClinVar genetic disease variations for Ayme-Gripp Syndrome:

6 (show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 MAF NM_005360.4(MAF): c.206C> G (p.Pro69Arg) single nucleotide variant Likely pathogenic rs727502768 GRCh37 Chromosome 16, 79633594: 79633594
2 MAF NM_005360.4(MAF): c.206C> G (p.Pro69Arg) single nucleotide variant Likely pathogenic rs727502768 GRCh38 Chromosome 16, 79599697: 79599697
3 MAF NM_005360.4(MAF): c.185C> G (p.Thr62Arg) single nucleotide variant Pathogenic rs727502771 GRCh37 Chromosome 16, 79633615: 79633615
4 MAF NM_005360.4(MAF): c.185C> G (p.Thr62Arg) single nucleotide variant Pathogenic rs727502771 GRCh38 Chromosome 16, 79599718: 79599718
5 MAF NM_005360.4(MAF): c.176C> T (p.Pro59Leu) single nucleotide variant Pathogenic rs727502770 GRCh37 Chromosome 16, 79633624: 79633624
6 MAF NM_005360.4(MAF): c.176C> T (p.Pro59Leu) single nucleotide variant Pathogenic rs727502770 GRCh38 Chromosome 16, 79599727: 79599727
7 MAF NM_005360.4(MAF): c.176C> A (p.Pro59His) single nucleotide variant Pathogenic rs727502770 GRCh37 Chromosome 16, 79633624: 79633624
8 MAF NM_005360.4(MAF): c.176C> A (p.Pro59His) single nucleotide variant Pathogenic rs727502770 GRCh38 Chromosome 16, 79599727: 79599727
9 MAF NM_005360.4(MAF): c.173C> T (p.Thr58Ile) single nucleotide variant Pathogenic rs727502769 GRCh37 Chromosome 16, 79633627: 79633627
10 MAF NM_005360.4(MAF): c.173C> T (p.Thr58Ile) single nucleotide variant Pathogenic rs727502769 GRCh38 Chromosome 16, 79599730: 79599730
11 MAF NM_005360.4(MAF): c.172A> G (p.Thr58Ala) single nucleotide variant Pathogenic rs727502767 GRCh37 Chromosome 16, 79633628: 79633628
12 MAF NM_005360.4(MAF): c.172A> G (p.Thr58Ala) single nucleotide variant Pathogenic rs727502767 GRCh38 Chromosome 16, 79599731: 79599731
13 MAF NM_005360.4(MAF): c.161C> T (p.Ser54Leu) single nucleotide variant Pathogenic rs727502766 GRCh37 Chromosome 16, 79633639: 79633639
14 MAF NM_005360.4(MAF): c.161C> T (p.Ser54Leu) single nucleotide variant Pathogenic rs727502766 GRCh38 Chromosome 16, 79599742: 79599742
15 MAF NM_005360.4(MAF): c.611G> T (p.Gly204Val) single nucleotide variant Benign rs867401075 GRCh38 Chromosome 16, 79599292: 79599292
16 MAF NM_005360.4(MAF): c.611G> T (p.Gly204Val) single nucleotide variant Benign rs867401075 GRCh37 Chromosome 16, 79633189: 79633189
17 MAF NM_005360.4(MAF): c.905C> T (p.Ala302Val) single nucleotide variant Likely pathogenic GRCh38 Chromosome 16, 79598998: 79598998
18 MAF NM_005360.4(MAF): c.905C> T (p.Ala302Val) single nucleotide variant Likely pathogenic GRCh37 Chromosome 16, 79632895: 79632895
19 MAF NM_005360.4(MAF): c.768C> G (p.His256Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 79599135: 79599135
20 MAF NM_005360.4(MAF): c.768C> G (p.His256Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 79633032: 79633032
21 MAF NM_005360.4(MAF): c.715G> A (p.Ala239Thr) single nucleotide variant Uncertain significance rs561314990 GRCh38 Chromosome 16, 79599188: 79599188
22 MAF NM_005360.4(MAF): c.715G> A (p.Ala239Thr) single nucleotide variant Uncertain significance rs561314990 GRCh37 Chromosome 16, 79633085: 79633085
23 MAF NM_005360.4(MAF): c.696_710delCGGCGGAGGCGGCGG (p.Gly234_Gly238del) deletion Uncertain significance GRCh38 Chromosome 16, 79599193: 79599207
24 MAF NM_005360.4(MAF): c.696_710delCGGCGGAGGCGGCGG (p.Gly234_Gly238del) deletion Uncertain significance GRCh37 Chromosome 16, 79633090: 79633104
25 MAF NM_005360.4(MAF): c.295_312del18insTGCA (p.Gln99Cysfs) indel Uncertain significance GRCh38 Chromosome 16, 79599591: 79599608
26 MAF NM_005360.4(MAF): c.295_312del18insTGCA (p.Gln99Cysfs) indel Uncertain significance GRCh37 Chromosome 16, 79633488: 79633505
27 MAF NM_005360.4(MAF): c.942C> T (p.His314=) single nucleotide variant Likely benign rs765806184 GRCh37 Chromosome 16, 79632858: 79632858
28 MAF NM_005360.4(MAF): c.942C> T (p.His314=) single nucleotide variant Likely benign rs765806184 GRCh38 Chromosome 16, 79598961: 79598961
29 MAF NM_005360.4(MAF): c.293C> A (p.Pro98Gln) single nucleotide variant Uncertain significance rs878873480 GRCh37 Chromosome 16, 79633507: 79633507
30 MAF NM_005360.4(MAF): c.293C> A (p.Pro98Gln) single nucleotide variant Uncertain significance rs878873480 GRCh38 Chromosome 16, 79599610: 79599610
31 MAF NM_005360.4(MAF): c.696_701dup (p.Gly238_Ala239insGlyGly) duplication Uncertain significance GRCh38 Chromosome 16, 79599202: 79599207
32 MAF NM_005360.4(MAF): c.696_701dup (p.Gly238_Ala239insGlyGly) duplication Uncertain significance GRCh37 Chromosome 16, 79633099: 79633104

Expression for Ayme-Gripp Syndrome

Search GEO for disease gene expression data for Ayme-Gripp Syndrome.

Pathways for Ayme-Gripp Syndrome

GO Terms for Ayme-Gripp Syndrome

Sources for Ayme-Gripp 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
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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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