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
Cataract 45
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 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 bone, eye and breast, and related phenotypes are mandibular prognathia and microtia

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 1304)
# Related Disease Score Top Affiliating Genes
1 cataract 21, multiple types 32.9 LOC101928230 MAF
2 hyperferritinemia with or without cataract 12.6
3 cataract 1, multiple types 12.6
4 cataract 4, multiple types 12.6
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 12.5
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 12.4
21 congenital cataracts, facial dysmorphism, and neuropathy 12.4
22 mental retardation-hypotonic facies syndrome, x-linked, 1 12.4
23 cerulean cataract 12.4
24 brachycephaly, deafness, cataract, microstomia, and mental retardation 12.4
25 cataract 8, multiple types 12.4
26 cataract 34, multiple types 12.4
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 46, juvenile-onset 12.3
36 cataract microcornea syndrome 12.3
37 cataract 26, multiple types 12.3
38 cataract 25 12.3
39 cataract 12, multiple types 12.3
40 cataract 44 12.3
41 microphthalmia, isolated, with cataract 1 12.3
42 cataract 19, multiple types 12.3
43 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 12.3
44 cataract 15, multiple types 12.3
45 cataract 13 with adult i phenotype 12.3
46 cataract 35 12.3
47 cataract 37 12.3
48 cataract 30 12.3
49 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 12.3
50 cataract 47 12.3

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:

33 (show all 40)
# Description HPO Frequency HPO Source Accession
1 mandibular prognathia 33 occasional (7.5%) HP:0000303
2 microtia 33 occasional (7.5%) HP:0008551
3 nail dystrophy 33 occasional (7.5%) HP:0008404
4 downslanted palpebral fissures 33 occasional (7.5%) HP:0000494
5 upslanted palpebral fissure 33 occasional (7.5%) HP:0000582
6 sparse scalp hair 33 occasional (7.5%) HP:0002209
7 tapered finger 33 occasional (7.5%) HP:0001182
8 cerebral atrophy 33 occasional (7.5%) HP:0002059
9 delayed cranial suture closure 33 occasional (7.5%) HP:0000270
10 posteriorly rotated ears 33 occasional (7.5%) HP:0000358
11 camptodactyly 33 occasional (7.5%) HP:0012385
12 arnold-chiari type i malformation 33 occasional (7.5%) HP:0007099
13 craniofacial asymmetry 33 occasional (7.5%) HP:0004484
14 hypertelorism 33 very rare (1%) HP:0000316
15 pectus excavatum 33 very rare (1%) HP:0000767
16 intellectual disability 33 very rare (1%) HP:0001249
17 seizures 33 very rare (1%) HP:0001250
18 hearing impairment 33 very rare (1%) HP:0000365
19 depressed nasal bridge 33 very rare (1%) HP:0005280
20 abnormality of the dentition 33 very rare (1%) HP:0000164
21 short nose 33 very rare (1%) HP:0003196
22 long philtrum 33 very rare (1%) HP:0000343
23 narrow mouth 33 very rare (1%) HP:0000160
24 brachydactyly 33 very rare (1%) HP:0001156
25 thin upper lip vermilion 33 very rare (1%) HP:0000219
26 pericarditis 33 very rare (1%) HP:0001701
27 high forehead 33 very rare (1%) HP:0000348
28 midface retrusion 33 very rare (1%) HP:0011800
29 broad eyebrow 33 very rare (1%) HP:0011229
30 developmental cataract 33 very rare (1%) HP:0000519
31 malar flattening 33 HP:0000272
32 low-set ears 33 HP:0000369
33 ptosis 33 HP:0000508
34 wide nasal bridge 33 HP:0000431
35 smooth philtrum 33 HP:0000319
36 sensorineural hearing impairment 33 HP:0000407
37 short stature 33 HP:0004322
38 flat face 33 HP:0012368
39 radioulnar synostosis 33 HP:0002974
40 broad philtrum 33 HP:0000289

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: cataract

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
Bone, Eye, Breast, 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:

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 GRCh37 Chromosome 16, 79633099: 79633104
32 MAF NM_005360.4(MAF): c.696_701dup (p.Gly238_Ala239insGlyGly) duplication Uncertain significance GRCh38 Chromosome 16, 79599202: 79599207

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 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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