MCID: ABL002
MIFTS: 52

Ablepharon-Macrostomia Syndrome

Categories: Genetic diseases, Rare diseases, Eye diseases, Fetal diseases, Skin diseases

Aliases & Classifications for Ablepharon-Macrostomia Syndrome

MalaCards integrated aliases for Ablepharon-Macrostomia Syndrome:

Name: Ablepharon-Macrostomia Syndrome 54 24 71 69
Ablepharon Macrostomia Syndrome 12 50 56 29 42 14
Eye Abnormalities 42 69
Ams 50 71
Congenital Ablepharon, Absent Eyelashes/eyebrows, Macrostomia, Auricular, Nasal, Genital and Other Systemic Anomalies 50
Poikiloderma with Neutropenia, Clericuzio Type 12
Macrostomia 42

Characteristics:

Orphanet epidemiological data:

56
ablepharon macrostomia syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
overlapping features with barber-say syndrome


HPO:

32
ablepharon-macrostomia syndrome:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Ablepharon-Macrostomia Syndrome

NIH Rare Diseases : 50 ablepharon macrostomia syndrome is genetic disorder characterized by absent eyelids (ablepharon) and very large mouth (macrostomia). other common signs and symptoms include abnormal external ears, fusion (syndactyly) of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations, and developmental delay. other reported findings include underdeveloped cheeks (malar hypoplasia), absent or very small (hypoplastic) nipples, umbilical abnormalities and growth retardation. it belongs to a group of diseases called ectodermal dysplasias (genetic disorders that involve defects in the skin, hair, nails, sweat glands, and/or teeth). ablepharon macrostomia syndrome is caused by mutations in the twist2 gene. inheritance is autosomal dominant, but most cases are sporadic (when there are no other cases in the family). treatment is aimed toward correcting the problems that are present. mutations in twist2 gene also cause the barber say syndrome and setleis syndrome, other ectodermal dysplasia syndromes which have very similar features.   last updated: 3/6/2017

MalaCards based summary : Ablepharon-Macrostomia Syndrome, also known as ablepharon macrostomia syndrome, is related to coronary artery disease and macrostomia, isolated, and has symptoms including visual impairment, wide mouth and umbilical hernia. An important gene associated with Ablepharon-Macrostomia Syndrome is TWIST2 (Twist Family BHLH Transcription Factor 2), and among its related pathways/superpathways are Ectoderm Differentiation and Signaling pathways regulating pluripotency of stem cells. Affiliated tissues include skin, eye and bone, and related phenotypes are craniofacial and growth/size/body region

UniProtKB/Swiss-Prot : 71 Ablepharon-macrostomia syndrome: A congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth.

OMIM : 54
Ablepharon-macrostomia syndrome is a congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth (summary by Marchegiani et al., 2015). (200110)

Disease Ontology : 12 A syndrome characterized by by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay. Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is that has material basis in heterozygous mutation in the TWIST2 gene on chromosome 2q37.

Wikipedia : 72 Ablepharon macrostomia syndrome (AMS) is an extremely rare autosomal recessive genetic disorder... more...

Related Diseases for Ablepharon-Macrostomia Syndrome

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

(show top 50) (show all 234)
id Related Disease Score Top Affiliating Genes
1 coronary artery disease 21.0 CPN1 CYP26C1 FKRP FKTN FRAS1 FREM2
2 macrostomia, isolated 12.3
3 mandibulofacial dysostosis with macroblepharon and macrostomia 12.0
4 poikiloderma with neutropenia 11.9
5 apparent mineralocorticoid excess 11.8
6 phace syndrome 11.4
7 acute mountain sickness 11.1
8 amenorrhea 11.1
9 alport syndrome 11.0
10 walker-warburg syndrome 10.9
11 walker dyson syndrome 10.8
12 dysplastic nevus syndrome 10.8
13 hemosiderosis 10.8
14 muscular dystrophy-dystroglycanopathy , type b, 1 10.7 POMGNT1 POMT1
15 aniridia 10.7
16 microphthalmia 10.7
17 galactorrhoea-hyperprolactinaemia 10.7 FKRP FKTN
18 alport syndrome, autosomal recessive 10.6
19 alport syndrome, autosomal dominant 10.6
20 renal, genital, and middle ear anomalies 10.5 PAX6 SOX2
21 follicular lymphoreticuloma 10.5 CYP26C1 TWIST2
22 hirschsprung disease 5 10.5 FKRP FKTN
23 intellectual disability-hyperkinetic movement-truncal ataxia syndrome 10.5 FKRP LARGE1 POMT1
24 intellectual disability-facial dysmorphism-hand anomalies syndrome 10.5 FKRP POMGNT1 POMT1
25 muscular dystrophy, congenital, 1b 10.5 FKRP FKTN
26 obesity due to sim1 deficiency 10.5 FKRP FKTN POMT1
27 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.5
28 pierson syndrome 10.5
29 congenital disorder of glycosylation, type iik 10.5
30 knobloch syndrome, type 1 10.5
31 kaufman oculocerebrofacial syndrome 10.5
32 chromosome 16p13.3 deletion syndrome, proximal 10.5
33 stickler syndrome 10.5
34 tooth agenesis 10.5 FKRP POMGNT1 POMT1
35 miyoshi muscular dystrophy 3 10.5 FKRP FKTN POMT1
36 communicating hydrocephalus 10.4 PAX6 TWIST2
37 angiodysplasia 10.4 FKTN POMGNT1 POMT1
38 anal spasm 10.4 PAX6 SOX2
39 unilateral congenital megacalycosis 10.4 FRAS1 FREM2
40 peroxisome biogenesis disorder 5a 10.3
41 sebastian syndrome 10.3
42 marcus gunn phenomenon 10.3
43 peroxisome biogenesis disorder 6a 10.3
44 desanto-shinawi syndrome 10.3
45 weill-marchesani syndrome 3, recessive 10.3
46 epstein syndrome 10.3
47 peroxisome biogenesis disorder 13a 10.3
48 gillespie syndrome 10.3
49 central hypoventilation syndrome, congenital 10.3
50 peroxisome biogenesis disorder 7a 10.3

Graphical network of the top 20 diseases related to Ablepharon-Macrostomia Syndrome:



Diseases related to Ablepharon-Macrostomia Syndrome

Symptoms & Phenotypes for Ablepharon-Macrostomia Syndrome

Symptoms via clinical synopsis from OMIM:

54

Genitourinary- External Genitalia Female:
ambiguous genitalia

Head And Neck- Eyes:
hypertelorism
ablepharon (absent eyelids)
cryptophthalmos
microblepharon
eyebrows absent
more
Head And Neck- Mouth:
macrostomia
short upper lip (in some patients)
bilateral deficiency of lateral lower lip (in some patients)
unfused labial commissures (in some patients)
absent gingiva (in some patients)

Head And Neck- Ears:
external ears rudimentary

Chest- Breasts:
nipples absent or rudimentary

Skeletal- Hands:
syndactyly of fingers, variable (in some patients)
shortening of metacarpals, variable (in some patients)
fifth-finger camptodactyly (in some patients)

Skin Nails & Hair- Hair:
lanugo absent

Genitourinary- External Genitalia Male:
ambiguous genitalia

Skin Nails & Hair- Skin:
dry skin
coarse skin
redundant folds

Head And Neck- Face:
zygomatic arches absent

Head And Neck- Nose:
shape abnormal
deficiency of lateral alae nasi (in some patient)

Abdomen- External Features:
ventral hernia

Skeletal- Feet:
syndactyly of toes, variable (in some patients)
clubfeet (in some patients)

Neurologic- Central Nervous System:
language delayed


Clinical features from OMIM:

200110

Human phenotypes related to Ablepharon-Macrostomia Syndrome:

56 32 (show all 46)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000505
2 wide mouth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000154
3 umbilical hernia 56 32 frequent (33%) Frequent (79-30%) HP:0001537
4 myopia 56 32 frequent (33%) Frequent (79-30%) HP:0000545
5 depressed nasal bridge 56 32 occasional (7.5%) Occasional (29-5%) HP:0005280
6 ambiguous genitalia 56 32 frequent (33%) Frequent (79-30%) HP:0000062
7 sparse hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0008070
8 anteverted nares 56 32 frequent (33%) Frequent (79-30%) HP:0000463
9 global developmental delay 56 32 frequent (33%) Frequent (79-30%) HP:0001263
10 breast hypoplasia 56 32 frequent (33%) Frequent (79-30%) HP:0003187
11 thin skin 56 32 frequent (33%) Frequent (79-30%) HP:0000963
12 thin vermilion border 56 32 occasional (7.5%) Occasional (29-5%) HP:0000233
13 omphalocele 56 32 occasional (7.5%) Occasional (29-5%) HP:0001539
14 absent eyelashes 56 32 hallmark (90%) Very frequent (99-80%) HP:0000561
15 toe syndactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001770
16 dry skin 56 32 frequent (33%) Frequent (79-30%) HP:0000958
17 fine hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002213
18 microtia 56 32 hallmark (90%) Very frequent (99-80%) HP:0008551
19 microdontia 56 32 frequent (33%) Frequent (79-30%) HP:0000691
20 redundant skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0001582
21 cryptophthalmos 56 32 frequent (33%) Frequent (79-30%) HP:0001126
22 corneal opacity 56 32 frequent (33%) Frequent (79-30%) HP:0007957
23 hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000365
24 delayed speech and language development 56 32 hallmark (90%) Very frequent (99-80%) HP:0000750
25 growth delay 56 32 occasional (7.5%) Occasional (29-5%) HP:0001510
26 hypoplasia of penis 56 32 frequent (33%) Frequent (79-30%) HP:0008736
27 corneal erosion 56 32 occasional (7.5%) Occasional (29-5%) HP:0200020
28 aplasia/hypoplasia of the nipples 56 32 frequent (33%) Frequent (79-30%) HP:0006709
29 underdeveloped nasal alae 56 32 hallmark (90%) Very frequent (99-80%) HP:0000430
30 hypoplasia of the maxilla 56 32 frequent (33%) Frequent (79-30%) HP:0000327
31 abnormal hair pattern 56 32 occasional (7.5%) Occasional (29-5%) HP:0010720
32 abnormality of skin pigmentation 56 32 occasional (7.5%) Occasional (29-5%) HP:0001000
33 camptodactyly of finger 56 32 frequent (33%) Frequent (79-30%) HP:0100490
34 atresia of the external auditory canal 56 32 occasional (7.5%) Occasional (29-5%) HP:0000413
35 abnormality of female external genitalia 56 32 frequent (33%) Frequent (79-30%) HP:0000055
36 excessive wrinkled skin 56 32 frequent (33%) Frequent (79-30%) HP:0007392
37 absent eyebrow 56 32 hallmark (90%) Very frequent (99-80%) HP:0002223
38 ablepharon 56 32 hallmark (90%) Very frequent (99-80%) HP:0011224
39 hypertelorism 32 HP:0000316
40 talipes equinovarus 32 occasional (7.5%) HP:0001762
41 ventral hernia 32 HP:0002933
42 short upper lip 32 occasional (7.5%) HP:0000188
43 abnormal nasal morphology 32 HP:0005105
44 cheekbone underdevelopment 56 Very frequent (99-80%)
45 microtia, third degree 32 HP:0011267
46 hypoplasia of the zygomatic bone 32 hallmark (90%) HP:0010669

UMLS symptoms related to Ablepharon-Macrostomia Syndrome:


eye manifestations, dry skin

MGI Mouse Phenotypes related to Ablepharon-Macrostomia Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.18 POMGNT1 SMAD4 SOX2 TWIST2 CYP26C1 FKRP
2 growth/size/body region MP:0005378 10.18 CYP26C1 FKRP FKTN FRAS1 FREM2 LARGE1
3 mortality/aging MP:0010768 10.13 OCRL PAX6 POMGNT1 POMT1 SMAD4 SOX2
4 immune system MP:0005387 10.07 CPN1 FKRP FKTN LARGE1 LAX1 PAX6
5 digestive/alimentary MP:0005381 10 FRAS1 LARGE1 PAX6 POMGNT1 SMAD4 SOX2
6 embryo MP:0005380 9.98 CYP26C1 FKTN FREM2 PAX6 POMT1 SMAD4
7 muscle MP:0005369 9.96 FKRP FKTN FREM2 LARGE1 PAX6 POMGNT1
8 reproductive system MP:0005389 9.76 FREM2 LARGE1 OCRL PAX6 POMGNT1 SMAD4
9 skeleton MP:0005390 9.56 FRAS1 FREM2 LARGE1 PAX6 SMAD4 SOX2
10 vision/eye MP:0005391 9.28 FKRP FRAS1 FREM2 LARGE1 OCRL PAX6

Drugs & Therapeutics for Ablepharon-Macrostomia Syndrome

Search Clinical Trials , NIH Clinical Center for Ablepharon-Macrostomia Syndrome

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: macrostomia

Genetic Tests for Ablepharon-Macrostomia Syndrome

Genetic tests related to Ablepharon-Macrostomia Syndrome:

id Genetic test Affiliating Genes
1 Ablepharon Macrostomia Syndrome 29
2 Ablepharon-Macrostomia Syndrome 24 TWIST2

Anatomical Context for Ablepharon-Macrostomia Syndrome

MalaCards organs/tissues related to Ablepharon-Macrostomia Syndrome:

39
Skin, Eye, Bone, Breast

Publications for Ablepharon-Macrostomia Syndrome

Articles related to Ablepharon-Macrostomia Syndrome:

(show all 18)
id Title Authors Year
1
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View. ( 28690482 )
2017
2
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview. ( 27196381 )
2016
3
A Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane Grafting. ( 26600791 )
2015
4
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders. ( 24115501 )
2013
5
Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome. ( 21595001 )
2011
6
Clinical variant of ablepharon macrostomia syndrome. ( 23198177 )
2011
7
Ablepharon-Macrostomia syndrome--extension of the phenotype. ( 22002929 )
2011
8
Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder. ( 19760652 )
2009
9
Ablepharon-macrostomia syndrome in a 46-year-old woman. ( 15103726 )
2004
10
Ablepharon-macrostomia syndrome. ( 11807864 )
2002
11
Intermediate form of ablepharon-macrostomia syndrome with CNS abnormalities. ( 11746001 )
2001
12
Familial occurrence of ablepharon macrostomia syndrome: eyelid structure and surgical considerations. ( 10721975 )
2000
13
Ablepharon-macrostomia syndrome: first report of familial occurrence. ( 11038439 )
2000
14
Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q. ( 8834257 )
1996
15
Congenital shortening of the anterior lamella of all eyelids: the so-called ablepharon macrostomia syndrome. ( 8746822 )
1995
16
Ablepharon macrostomia syndrome. ( 2036354 )
1991
17
A new feature of the ablepharon macrostomia syndrome: zygomatic arch absence. ( 3293678 )
1988
18
Ablepharon macrostomia syndrome. ( 4003491 )
1985

Variations for Ablepharon-Macrostomia Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Ablepharon-Macrostomia Syndrome:

71
id Symbol AA change Variation ID SNP ID
1 TWIST2 p.Glu75Lys VAR_074675 rs796065049

ClinVar genetic disease variations for Ablepharon-Macrostomia Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TWIST2 NM_057179.2(TWIST2): c.223G> A (p.Glu75Lys) single nucleotide variant Pathogenic rs796065049 GRCh38 Chromosome 2, 238848438: 238848438

Expression for Ablepharon-Macrostomia Syndrome

Search GEO for disease gene expression data for Ablepharon-Macrostomia Syndrome.

Pathways for Ablepharon-Macrostomia Syndrome

Pathways related to Ablepharon-Macrostomia Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.49 PAX6 SMAD4 SOX2
2 11.27 PAX6 SMAD4 SOX2
3 10.38 FKRP FKTN LARGE1 POMGNT1 POMT1

GO Terms for Ablepharon-Macrostomia Syndrome

Cellular components related to Ablepharon-Macrostomia Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.17 CPN1 FKRP FKTN LARGE1 LAX1 OCRL

Biological processes related to Ablepharon-Macrostomia Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 anterior/posterior pattern specification GO:0009952 9.5 CYP26C1 PAX6 SMAD4
2 neuron fate commitment GO:0048663 9.43 PAX6 SMAD4
3 pituitary gland development GO:0021983 9.4 PAX6 SOX2
4 morphogenesis of an epithelium GO:0002009 9.37 FRAS1 FREM2
5 protein glycosylation GO:0006486 9.35 FKRP FKTN LARGE1 POMGNT1 POMT1
6 protein O-linked glycosylation GO:0006493 9.33 LARGE1 POMGNT1 POMT1
7 glycoprotein biosynthetic process GO:0009101 9.26 FKRP LARGE1
8 protein O-linked mannosylation GO:0035269 8.92 FKRP FKTN LARGE1 POMT1

Molecular functions related to Ablepharon-Macrostomia Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 R-SMAD binding GO:0070412 8.96 PAX6 SMAD4
2 acetylglucosaminyltransferase activity GO:0008375 8.62 LARGE1 POMGNT1

Sources for Ablepharon-Macrostomia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
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43 MESH via Orphanet
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48 NDF-RT
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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