AYGRP
MCID: AYM001
MIFTS: 39

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 58 76 30 6 41
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation 58 76
Fine-Lubinsky Syndrome 60 74
Aymé-Gripp Syndrome 60 17
Aygrp 58 76
Brachycephaly-Deafness-Cataract-Intellectual Disability Syndrome 60
Facies 45

Characteristics:

Orphanet epidemiological data:

60
aymé-gripp syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
ayme-gripp syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ayme-Gripp Syndrome

UniProtKB/Swiss-Prot : 76 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 brachycephaly, deafness, cataract, microstomia, and mental retardation and mental retardation-hypotonic facies syndrome, x-linked, 1, and has symptoms including seizures An important gene associated with Ayme-Gripp Syndrome is MAF (MAF BZIP Transcription Factor). Affiliated tissues include heart, breast and bone, and related phenotypes are intellectual disability and global developmental delay

OMIM : 58 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 373)
# Related Disease Score Top Affiliating Genes
1 brachycephaly, deafness, cataract, microstomia, and mental retardation 12.4
2 mental retardation-hypotonic facies syndrome, x-linked, 1 12.4
3 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 12.3
4 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 12.3
5 short stature with microcephaly and distinctive facies 12.3
6 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 12.3
7 macrocephaly, dysmorphic facies, and psychomotor retardation 12.3
8 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 12.2
9 intellectual developmental disorder with dysmorphic facies and ptosis 12.2
10 growth restriction, severe, with distinctive facies 12.2
11 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 12.2
12 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 12.2
13 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 12.2
14 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 12.2
15 short stature, hearing loss, retinitis pigmentosa, and distinctive facies 12.2
16 intellectual developmental disorder with hypertelorism and distinctive facies 12.2
17 intellectual developmental disorder with cardiac defects and dysmorphic facies 12.2
18 aortic arch anomaly - peculiar facies - intellectual disability 12.2
19 lymphedema, cardiac septal defects, and characteristic facies 12.1
20 fibromatosis, gingival, with distinctive facies 12.1
21 spondyloepiphyseal dysplasia tarda with characteristic facies 12.1
22 hand and foot deformity with flat facies 12.0
23 dextrocardia with unusual facies and microphthalmia 12.0
24 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 12.0
25 cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss 12.0
26 cubitus valgus with mental retardation and unusual facies 12.0
27 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 12.0
28 femoral-facial syndrome 11.9
29 aortic arch anomaly with peculiar facies and mental retardation 11.9
30 brachytelephalangy with characteristic facies and kallmann syndrome 11.9
31 corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation 11.9
32 arthrogryposis, distal, with mental retardation and characteristic facies 11.9
33 cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease 11.9
34 renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies 11.9
35 ichthyosis tapered fingers midline groove up 11.6
36 spastic paraplegia 23, autosomal recessive 11.6
37 chops syndrome 11.6
38 cayler cardiofacial syndrome 11.6
39 kbg syndrome 11.6
40 boomerang dysplasia 11.6
41 weaver syndrome 11.5
42 pfeiffer-palm-teller syndrome 11.5
43 myopathy, congenital, bailey-bloch 11.5
44 pierpont syndrome 11.5
45 hypotonia-speech impairment-severe cognitive delay syndrome 11.4
46 ramos arroyo clark syndrome 11.4
47 rubinstein-taybi syndrome 1 11.4
48 beaulieu-boycott-innes syndrome 11.4
49 al-gazali-bakalinova syndrome 11.3
50 growth retardation, developmental delay, and facial dysmorphism 11.3

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



Diseases related to Ayme-Gripp Syndrome

Symptoms & Phenotypes for Ayme-Gripp Syndrome

Human phenotypes related to Ayme-Gripp Syndrome:

60 33 (show top 50) (show all 82)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 very rare (1%) Very frequent (99-80%) HP:0001249
2 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
3 flat face 60 33 hallmark (90%) Very frequent (99-80%) HP:0012368
4 postnatal growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0008897
5 hypertelorism 60 33 very rare (1%) Frequent (79-30%) HP:0000316
6 low-set ears 60 33 frequent (33%) Frequent (79-30%) HP:0000369
7 hydrocephalus 60 33 frequent (33%) Frequent (79-30%) HP:0000238
8 eeg abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0002353
9 depressed nasal bridge 60 33 very rare (1%) Frequent (79-30%) HP:0005280
10 short nose 60 33 very rare (1%) Frequent (79-30%) HP:0003196
11 microtia 60 33 occasional (7.5%) Frequent (79-30%) HP:0008551
12 sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407
13 visual impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000505
14 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
15 brachycephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000248
16 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
17 long philtrum 60 33 very rare (1%) Frequent (79-30%) HP:0000343
18 limitation of joint mobility 60 33 frequent (33%) Frequent (79-30%) HP:0001376
19 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
20 ventriculomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002119
21 cerebral cortical atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002120
22 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
23 downslanted palpebral fissures 60 33 occasional (7.5%) Frequent (79-30%) HP:0000494
24 narrow mouth 60 33 very rare (1%) Frequent (79-30%) HP:0000160
25 upslanted palpebral fissure 60 33 occasional (7.5%) Frequent (79-30%) HP:0000582
26 thin upper lip vermilion 60 33 very rare (1%) Frequent (79-30%) HP:0000219
27 sparse scalp hair 60 33 occasional (7.5%) Frequent (79-30%) HP:0002209
28 high forehead 60 33 very rare (1%) Frequent (79-30%) HP:0000348
29 large fontanelles 60 33 frequent (33%) Frequent (79-30%) HP:0000239
30 plagiocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0001357
31 tapered finger 60 33 occasional (7.5%) Frequent (79-30%) HP:0001182
32 prominent metopic ridge 60 33 frequent (33%) Frequent (79-30%) HP:0005487
33 rocker bottom foot 60 33 frequent (33%) Frequent (79-30%) HP:0001838
34 posteriorly rotated ears 60 33 occasional (7.5%) Frequent (79-30%) HP:0000358
35 oligodontia 60 33 frequent (33%) Frequent (79-30%) HP:0000677
36 camptodactyly 60 33 occasional (7.5%) Frequent (79-30%) HP:0012385
37 asymmetric crying face 60 33 frequent (33%) Frequent (79-30%) HP:0011333
38 bilateral ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0001488
39 infantile muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0008947
40 arnold-chiari type i malformation 60 33 occasional (7.5%) Frequent (79-30%) HP:0007099
41 shallow orbits 60 33 frequent (33%) Frequent (79-30%) HP:0000586
42 developmental cataract 33 very rare (1%) HP:0000519
43 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
44 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
45 proteinuria 60 33 occasional (7.5%) Occasional (29-5%) HP:0000093
46 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
47 megalocornea 60 33 occasional (7.5%) Occasional (29-5%) HP:0000485
48 febrile seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0002373
49 glaucoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000501
50 pericarditis 60 33 very rare (1%) Occasional (29-5%) HP:0001701

Symptoms via clinical synopsis from OMIM:

58
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

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: facies

Genetic Tests for Ayme-Gripp Syndrome

Genetic tests related to Ayme-Gripp Syndrome:

# Genetic test Affiliating Genes
1 Ayme-Gripp Syndrome 30 MAF

Anatomical Context for Ayme-Gripp Syndrome

MalaCards organs/tissues related to Ayme-Gripp Syndrome:

42
Heart, Breast, Bone, Eye, Pituitary, T Cells, Retina

Publications for Ayme-Gripp Syndrome

Articles related to Ayme-Gripp Syndrome:

# Title Authors Year
1
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies. ( 25865493 )
2015
2
Fine-Lubinsky syndrome: managing the rare syndromic synostosis. ( 19251507 )
2010
3
Further clinical delineation of Fine-Lubinsky syndrome. ( 19396831 )
2009
4
Fetal manifestation of the Fine-Lubinsky syndrome. Brachycephaly, deafness, cataract, microstomia and mental retardation syndrome complicated by Pierre-Robin anomaly and polyhydramnios. ( 18417983 )
2008
5
Fine-Lubinsky syndrome: sibling pair suggests possible autosomal recessive inheritance. ( 17394214 )
2007
6
Syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation: two additional cases. ( 17935251 )
2007
7
A variant of Fine-Lubinsky syndrome: a Japanese boy with profound deafness, cataracts, mental retardation, and brachycephaly without craniosynostosis. ( 12072800 )
2002
8
Fine-Lubinsky syndrome: a fourth patient with brachycephaly, deafness, cataract, microstomia and mental retardation. ( 8867660 )
1996
9
Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation. ( 8834052 )
1996

Variations for Ayme-Gripp Syndrome

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

76
# 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 GRCh37 Chromosome 16, 79633189: 79633189
16 MAF NM_005360.4(MAF): c.611G> T (p.Gly204Val) single nucleotide variant Benign rs867401075 GRCh38 Chromosome 16, 79599292: 79599292
17 MAF NM_005360.4(MAF): c.905C> T (p.Ala302Val) single nucleotide variant Likely pathogenic rs1481963503 GRCh38 Chromosome 16, 79598998: 79598998
18 MAF NM_005360.4(MAF): c.905C> T (p.Ala302Val) single nucleotide variant Likely pathogenic rs1481963503 GRCh37 Chromosome 16, 79632895: 79632895
19 MAF NM_005360.4(MAF): c.768C> G (p.His256Gln) single nucleotide variant Uncertain significance rs1555529827 GRCh38 Chromosome 16, 79599135: 79599135
20 MAF NM_005360.4(MAF): c.768C> G (p.His256Gln) single nucleotide variant Uncertain significance rs1555529827 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 rs1229626204 GRCh38 Chromosome 16, 79599193: 79599207
24 MAF NM_005360.4(MAF): c.696_710delCGGCGGAGGCGGCGG (p.Gly234_Gly238del) deletion Uncertain significance rs1229626204 GRCh37 Chromosome 16, 79633090: 79633104
25 MAF NM_005360.4(MAF): c.295_312del18insTGCA (p.Gln99Cysfs) indel Uncertain significance rs1555530022 GRCh38 Chromosome 16, 79599591: 79599608
26 MAF NM_005360.4(MAF): c.295_312del18insTGCA (p.Gln99Cysfs) indel Uncertain significance rs1555530022 GRCh37 Chromosome 16, 79633488: 79633505
27 MAF NM_005360.4(MAF): c.942C> T (p.His314=) single nucleotide variant Likely benign rs765806184 GRCh38 Chromosome 16, 79598961: 79598961
28 MAF NM_005360.4(MAF): c.942C> T (p.His314=) single nucleotide variant Likely benign rs765806184 GRCh37 Chromosome 16, 79632858: 79632858
29 MAF NM_005360.4(MAF): c.293C> A (p.Pro98Gln) single nucleotide variant Uncertain significance rs878873480 GRCh38 Chromosome 16, 79599610: 79599610
30 MAF NM_005360.4(MAF): c.293C> A (p.Pro98Gln) single nucleotide variant Uncertain significance rs878873480 GRCh37 Chromosome 16, 79633507: 79633507
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

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